U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit [ Homo sapiens (human) ]

    Gene ID: 79868, updated on 3-Apr-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    ALG13provided by HGNC
    Official Full Name
    ALG13 UDP-N-acetylglucosaminyltransferase subunitprovided by HGNC
    Primary source
    HGNC:HGNC:30881
    See related
    Ensembl:ENSG00000101901 MIM:300776; AllianceGenome:HGNC:30881
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CDG1S; DEE36; EIEE36; MDS031; TDRD13; CXorf45; GLT28D1; YGL047W
    Summary
    The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes with asparagine-linked glycosylation 14 homolog to form a functional UDP-GlcNAc glycosyltransferase that catalyzes the second sugar addition of the highly conserved oligosaccharide precursor in endoplasmic reticulum N-linked glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
    Expression
    Ubiquitous expression in testis (RPKM 4.1), skin (RPKM 3.5) and 25 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    Location:
    Xq23
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (111681170..111760649)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (110129414..110208990)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (110924398..111003877)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L18a pseudogene 15 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:110924066-110924785 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29860 Neighboring gene RNA, 5S ribosomal pseudogene 512 Neighboring gene transient receptor potential cation channel subfamily C member 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20944 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:111155775-111156274 Neighboring gene TRPC5 opposite strand Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29861 Neighboring gene retrotransposon Gag like 4 Neighboring gene divergent-paired related homeobox pseudogene 7

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. Alsharhan H, et al. J Inherit Metab Dis, 2021 Jul. PMID 33734437, Free PMC Article
    2. Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG. Alsharhan H, et al. J Inherit Metab Dis, 2021 Jul. PMID 33583022, Free PMC Article
    3. The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy. Datta AN, et al. Epilepsia, 2021 Feb. PMID 33410528, Free PMC Article
    4. X-Linked ALG13 Gene Variant as a Cause of Epileptic Encephalopathy in Girls. Madaan P, et al. Indian J Pediatr, 2019 Nov. PMID 31444733
    5. Exome sequence identified a c.320A > G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature. Hamici S, et al. Eur J Med Genet, 2017 Oct. PMID 28778787

    See all (62) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.
      Title: ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.
    2. Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.
      Title: Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.
    3. The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.
      Title: The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.
    4. X-Linked ALG13 Gene Variant as a Cause of Epileptic Encephalopathy in Girls.
      Title: X-Linked ALG13 Gene Variant as a Cause of Epileptic Encephalopathy in Girls.
    5. ALG13-is2 could be an important modifier of renal filtration defects
      Title: Dysregulation of the Expression of Asparagine-Linked Glycosylation 13 Short Isoform 2 Affects Nephrin Function by Altering Its N-Linked Glycosylation.
    6. A female patient heterozygous for ALG13 Asn107Ser variant presented with infantile spasms, developmental delay, and dysmorphic features. The patient showed normal pattern of glycosylated transferrin and random pattern of X-inactivation.
      Title: Exome sequence identified a c.320A > G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature.
    7. We report on a novel missense variant in the ALG13 gene in a nonconsanguineous Arab family that co-segregates with nonsyndromic intellectual disability.
      Title: X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings.
    8. ALG13 and ALG14 form a functional endoplasmic reticulum UDP-N-acetylglucosamine transferase
      Title: Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation.
    Submit: New GeneRIF Correction

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

    Go to the top of the page Help

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Addition of peripheral sugar residues such as galactose, N-acetylglucosamine, and sialic acid to HIV-1 gp120 is processed by specific glycosyltransferase PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • FLJ23018, FLJ31785, MGC12423

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA binding HDA PubMed 
    enables cysteine-type deubiquitinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in dolichol-linked oligosaccharide biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13
    Names
    N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase
    UDP-N-acetylglucosamine transferase subunit ALG13 homolog
    asparagine-linked glycosylation 13 homolog
    glycosyltransferase 28 domain-containing protein 1
    hematopoietic stem/progenitor cells protein MDS031
    tudor domain containing 13
    NP_001034299.3
    NP_001093392.1
    NP_001161857.1
    NP_001244159.1
    NP_001244160.1
    NP_001244163.1
    NP_001244164.1
    NP_001244166.1
    NP_001244168.1
    NP_001244169.1
    NP_001244170.1
    NP_001311219.1
    NP_001311220.1
    NP_001311221.1
    NP_001311222.1
    NP_001311223.1
    NP_060936.1
    XP_006724756.1
    XP_006724760.2
    XP_006724761.2
    XP_011529330.1
    XP_011529332.1
    XP_011529333.1
    XP_011529334.1
    XP_011529335.1
    XP_011529336.1
    XP_016885335.1
    XP_016885336.1
    XP_016885337.1
    XP_016885338.1
    XP_016885339.1
    XP_016885341.1
    XP_024308217.1
    XP_047298476.1
    XP_047298477.1
    XP_047298478.1
    XP_047298479.1
    XP_047298480.1
    XP_047298481.1
    XP_047298482.1
    XP_047298483.1
    XP_047298484.1
    XP_047298485.1
    XP_047298486.1
    XP_047298487.1
    XP_054183853.1
    XP_054183854.1
    XP_054183855.1
    XP_054183856.1
    XP_054183857.1
    XP_054183858.1
    XP_054183859.1
    XP_054183860.1
    XP_054183861.1
    XP_054183862.1
    XP_054183863.1
    XP_054183864.1
    XP_054183865.1
    XP_054183866.1
    XP_054183867.1
    XP_054183868.1
    XP_054183869.1
    XP_054183870.1
    XP_054183871.1
    XP_054183872.1
    XP_054183873.1
    XP_054183874.1
    XP_054183875.1
    XP_054183876.1
    XP_054183877.1
    XP_054183878.1
    XP_054183879.1
    XP_054183880.1

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016238.1 RefSeqGene

      Range
      5053..84532
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001039210.5 → NP_001034299.3  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 3

      See identical proteins and their annotated locations for NP_001034299.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and has multiple differences in the coding region, compared to variant 1. The resulting isoform (3) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK056347, AL096764, BC005336, BF699152, BQ007420
      UniProtKB/TrEMBL
      A0A096LNL2
      Conserved Domains (1) summary
      cl10013
      Location:4 → 48
      Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology

    2. NM_001099922.3 → NP_001093392.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 1

      See identical proteins and their annotated locations for NP_001093392.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK302729, AK304712, BF699152, BQ015240, DB516751
      Consensus CDS
      CCDS55477.1
      UniProtKB/Swiss-Prot
      B1AKD6, B1AKM1, B2R5L5, B7Z6J0, B7Z804, B7Z847, B7Z9A8, B7ZAJ1, B7ZB57, Q17RC3, Q5JXY9, Q9H5U8, Q9NP73
      UniProtKB/TrEMBL
      A0A096LPI3
      Related
      ENSP00000378260.3, ENST00000394780.8
      Conserved Domains (3) summary
      cd04508
      Location:496 → 544
      TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
      cl10013
      Location:4 → 120
      Glycosyltransferase_GTB_type; Glycosyltransferases catalyze the transfer of sugar moieties from activated donor molecules to specific acceptor molecules, forming glycosidic bonds. The acceptor molecule can be a lipid, a protein, a heterocyclic compound, or another carbohydrate ...
      cl19932
      Location:239 → 345
      OTU; OTU-like cysteine protease

    3. NM_001168385.3 → NP_001161857.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 4

      See identical proteins and their annotated locations for NP_001161857.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 3' UTR and 3' coding region, compared to variant 1. The resulting isoform (4) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK056347, AL096764, BC005336, BE747995, BF699152
      Consensus CDS
      CCDS76011.1
      UniProtKB/TrEMBL
      A0A087WX43, A0A096LNJ4
      Related
      ENSP00000480711.1, ENST00000473389.5
      Conserved Domains (1) summary
      cl10013
      Location:4 → 131
      Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology

    4. NM_001257230.2 → NP_001244159.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 5

      See identical proteins and their annotated locations for NP_001244159.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the 5' region, initiates translation at a downstream, in-frame start codon and lacks an exon in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (5) is shorter than isoform 1.
      Source sequence(s)
      AK026671, AK300394, AK316522, BF699152, BQ015240
      Consensus CDS
      CCDS59173.1
      UniProtKB/TrEMBL
      A0A096LPI3
      Related
      ENSP00000392990.2, ENST00000436609.5
      Conserved Domains (2) summary
      cd04508
      Location:392 → 440
      TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
      cl19932
      Location:135 → 241
      OTU; OTU-like cysteine protease

    5. NM_001257231.2 → NP_001244160.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 6

      See identical proteins and their annotated locations for NP_001244160.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR, initiates translation at an alternate start codon and uses an alternate splice site in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (6) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK026671, AK302890, BP344481, BQ015240, DB292609
      UniProtKB/TrEMBL
      A0A096LPI3
      Conserved Domains (3) summary
      cd04508
      Location:418 → 466
      TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
      cl10013
      Location:4 → 42
      Glycosyltransferase_GTB_type; Glycosyltransferases catalyze the transfer of sugar moieties from activated donor molecules to specific acceptor molecules, forming glycosidic bonds. The acceptor molecule can be a lipid, a protein, a heterocyclic compound, or another carbohydrate ...
      cl19932
      Location:161 → 267
      OTU; OTU-like cysteine protease

    6. NM_001257234.2 → NP_001244163.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 5

      See identical proteins and their annotated locations for NP_001244163.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) has multiple differences, compared to variant 1, including the use of a downstream, in-frame start codon. Variants 5, 8 and 10 encode the same isoform (5), which is shorter than isoform 1.
      Source sequence(s)
      AK026671, AK316306, AK316522, BQ015240, DB292609
      Consensus CDS
      CCDS59173.1
      UniProtKB/TrEMBL
      A0A096LPI3
      Conserved Domains (2) summary
      cd04508
      Location:392 → 440
      TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
      cl19932
      Location:135 → 241
      OTU; OTU-like cysteine protease

    7. NM_001257235.3 → NP_001244164.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 7

      See identical proteins and their annotated locations for NP_001244164.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) has multiple differences, compared to variant 1, including the use of a downstream, in-frame start codon and alternate 3' UTR. Variants 9, 11 and 12 encode the same isoform (7) which is significantly shorter and has a unique C-terminus, compared to isoform 1.
      Source sequence(s)
      AL096764, CB268871, DB292609
      Consensus CDS
      CCDS76013.1
      UniProtKB/TrEMBL
      A0A087WT15

    8. NM_001257237.2 → NP_001244166.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 5

      See identical proteins and their annotated locations for NP_001244166.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) differs in the 5' UTR, initiates translation at a downstream, in-frame start codon and lacks an exon in the 3' coding region, but maintains the reading frame, compared to variant 1. Variants 5, 8 and 10 encode the same isoform (5), which is shorter than isoform 1.
      Source sequence(s)
      AK026671, AK316522, BQ015240, DB292609
      Consensus CDS
      CCDS59173.1
      UniProtKB/TrEMBL
      A0A096LPI3
      Conserved Domains (2) summary
      cd04508
      Location:392 → 440
      TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
      cl19932
      Location:135 → 241
      OTU; OTU-like cysteine protease

    9. NM_001257239.3 → NP_001244168.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 7

      See identical proteins and their annotated locations for NP_001244168.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) has multiple differences, compared to variant 1, including the use of a downstream, in-frame start codon and alternate 3' UTR. Variants 9, 11 and 12 encode the same isoform (7) which is significantly shorter and has a unique C-terminus, compared to isoform 1.
      Source sequence(s)
      AL096764, BG621042, BM759764, DC400909
      Consensus CDS
      CCDS76013.1
      UniProtKB/TrEMBL
      A0A087WT15
      Related
      ENSP00000477513.1, ENST00000482742.5
      Conserved Domains (1) summary
      COG0008
      Location:7 → 24
      GlnS; Glutamyl- and glutaminyl-tRNA synthetases [Translation, ribosomal structure and biogenesis]

    10. NM_001257240.3 → NP_001244169.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 7

      See identical proteins and their annotated locations for NP_001244169.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) has multiple differences, compared to variant 1, including the use of a downstream, in-frame start codon and alternate 3' UTR. Variants 9, 11 and 12 encode the same isoform (7) which is significantly shorter and has a unique C-terminus, compared to isoform 1.
      Source sequence(s)
      AL096764, DB292609, DN992019
      Consensus CDS
      CCDS76013.1
      UniProtKB/TrEMBL
      A0A087WT15
      Conserved Domains (1) summary
      COG0008
      Location:7 → 24
      GlnS; Glutamyl- and glutaminyl-tRNA synthetases [Translation, ribosomal structure and biogenesis]

    11. NM_001257241.3 → NP_001244170.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 8

      See identical proteins and their annotated locations for NP_001244170.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13) has multiple differences, compared to variant 1, including the use of an alternate start codon and alternate 3' UTR. The encoded isoform (8) is shorter and has distinct N- and C-termini, compared to isoform 1.
      Source sequence(s)
      AK302890, AL096764, BF239206, DB292609
      UniProtKB/Swiss-Prot
      Q9NP73
      Conserved Domains (1) summary
      cl10013
      Location:4 → 42
      Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology

    12. NM_001324290.2 → NP_001311219.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AL096764
      UniProtKB/TrEMBL
      A0A096LP10
      Related
      ENSP00000485333.1, ENST00000623255.1

    13. NM_001324291.2 → NP_001311220.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL096764
      Consensus CDS
      CCDS76013.1
      UniProtKB/TrEMBL
      A0A087WT15

    14. NM_001324292.2 → NP_001311221.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AL049563, AL096764
      UniProtKB/TrEMBL
      A0A096LPI3
      Conserved Domains (3) summary
      cd04508
      Location:496 → 544
      TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
      cl10013
      Location:4 → 120
      Glycosyltransferase_GTB_type; Glycosyltransferases catalyze the transfer of sugar moieties from activated donor molecules to specific acceptor molecules, forming glycosidic bonds. The acceptor molecule can be a lipid, a protein, a heterocyclic compound, or another carbohydrate ...
      cl19932
      Location:239 → 345
      OTU; OTU-like cysteine protease

    15. NM_001324293.1 → NP_001311222.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AL049563, AL096764
      UniProtKB/TrEMBL
      A0A096LPI3
      Related
      ENSP00000485624.2, ENST00000623622.2

    16. NM_001324294.2 → NP_001311223.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL096764
      Consensus CDS
      CCDS76013.1
      UniProtKB/TrEMBL
      A0A087WT15
      Related
      ENSP00000485392.1, ENST00000623189.1

    17. NM_018466.6 → NP_060936.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 2

      See identical proteins and their annotated locations for NP_060936.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a large portion of the 3' coding region and uses an alternate 3' terminal exon, compared to variant 1. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK056347, AL096764, BC005336, BF699152
      Consensus CDS
      CCDS14559.1
      UniProtKB/TrEMBL
      A0A096LP10
      Related
      ENSP00000361047.3, ENST00000371979.7
      Conserved Domains (1) summary
      cl10013
      Location:4 → 120
      Glycosyltransferase_GTB_type; Glycosyltransferases catalyze the transfer of sugar moieties from activated donor molecules to specific acceptor molecules, forming glycosidic bonds. The acceptor molecule can be a lipid, a protein, a heterocyclic compound, or another carbohydrate ...

    RNA

    1. NR_033125.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) has multiple differences, compared to variant 1. This variant is represented as non-coding because use of the downstream start codon used in variant 5 results in a short ORF that does not meet RefSeq criteria.
      Source sequence(s)
      AK056347, AL096764, AL524204, BC005336, BE747995, BF699152

    2. NR_136735.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) has multiple differences, compared to variant 1. This variant is represented as non-coding because use of the downstream start codon used in variant 5 results in a short ORF that does not meet RefSeq criteria.
      Source sequence(s)
      AL096764

    3. NR_148693.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL049563, AL096764
      Related
      ENST00000636363.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      111681170..111760649
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531031.2 → XP_011529333.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X9

      See identical proteins and their annotated locations for XP_011529333.1

      UniProtKB/TrEMBL
      A0A096LPI3
      Conserved Domains (2) summary
      cd20447
      Location:384 → 463
      Tudor_TDRD13; Tudor domain found in Tudor domain-containing protein 13 (TDRD13)
      cl19932
      Location:135 → 241
      OTU; OTU-like cysteine protease

    2. XM_006724698.4 → XP_006724761.2  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X9

      See identical proteins and their annotated locations for XP_006724761.2

      UniProtKB/TrEMBL
      A0A096LPI3
      Conserved Domains (2) summary
      cd20447
      Location:384 → 463
      Tudor_TDRD13; Tudor domain found in Tudor domain-containing protein 13 (TDRD13)
      cl19932
      Location:135 → 241
      OTU; OTU-like cysteine protease

    3. XM_011531028.3 → XP_011529330.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X1

      UniProtKB/TrEMBL
      A0A096LPI3
      Conserved Domains (3) summary
      cd04508
      Location:496 → 544
      TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
      cl10013
      Location:4 → 120
      Glycosyltransferase_GTB_type; Glycosyltransferases catalyze the transfer of sugar moieties from activated donor molecules to specific acceptor molecules, forming glycosidic bonds. The acceptor molecule can be a lipid, a protein, a heterocyclic compound, or another carbohydrate ...
      cl19932
      Location:239 → 345
      OTU; OTU-like cysteine protease

    4. XM_011531030.3 → XP_011529332.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X7

      UniProtKB/TrEMBL
      A0A096LPI3
      Conserved Domains (3) summary
      cd04508
      Location:496 → 544
      TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
      cl10013
      Location:4 → 120
      Glycosyltransferase_GTB_type; Glycosyltransferases catalyze the transfer of sugar moieties from activated donor molecules to specific acceptor molecules, forming glycosidic bonds. The acceptor molecule can be a lipid, a protein, a heterocyclic compound, or another carbohydrate ...
      cl19932
      Location:239 → 345
      OTU; OTU-like cysteine protease

    5. XM_017029847.2 → XP_016885336.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X3

      UniProtKB/TrEMBL
      A0A096LPI3

    6. XM_006724693.4 → XP_006724756.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X5

      UniProtKB/TrEMBL
      A0A096LPI3
      Conserved Domains (3) summary
      cd04508
      Location:496 → 544
      TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
      cl10013
      Location:4 → 120
      Glycosyltransferase_GTB_type; Glycosyltransferases catalyze the transfer of sugar moieties from activated donor molecules to specific acceptor molecules, forming glycosidic bonds. The acceptor molecule can be a lipid, a protein, a heterocyclic compound, or another carbohydrate ...
      cl19932
      Location:239 → 345
      OTU; OTU-like cysteine protease

    7. XM_047442523.1 → XP_047298479.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X11

    8. XM_017029846.2 → XP_016885335.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X2

      UniProtKB/TrEMBL
      A0A096LPI3

    9. XM_047442520.1 → XP_047298476.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X4

    10. XM_017029848.2 → XP_016885337.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X10

      UniProtKB/TrEMBL
      A0A096LPI3

    11. XM_047442521.1 → XP_047298477.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X6

    12. XM_047442522.1 → XP_047298478.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X8

    13. XM_047442525.1 → XP_047298481.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X13

    14. XM_006724697.4 → XP_006724760.2  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X9

      See identical proteins and their annotated locations for XP_006724760.2

      UniProtKB/TrEMBL
      A0A096LPI3
      Conserved Domains (2) summary
      cd20447
      Location:384 → 463
      Tudor_TDRD13; Tudor domain found in Tudor domain-containing protein 13 (TDRD13)
      cl19932
      Location:135 → 241
      OTU; OTU-like cysteine protease

    15. XM_017029850.3 → XP_016885339.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X16

      UniProtKB/TrEMBL
      A0A096LPI3

    16. XM_017029849.2 → XP_016885338.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X15

      UniProtKB/TrEMBL
      A0A096LPI3

    17. XM_024452449.2 → XP_024308217.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X17

      UniProtKB/TrEMBL
      A0A096LPI3
      Conserved Domains (3) summary
      cd04508
      Location:496 → 544
      TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
      cl10013
      Location:4 → 120
      Glycosyltransferase_GTB_type; Glycosyltransferases catalyze the transfer of sugar moieties from activated donor molecules to specific acceptor molecules, forming glycosidic bonds. The acceptor molecule can be a lipid, a protein, a heterocyclic compound, or another carbohydrate ...
      cl19932
      Location:239 → 345
      OTU; OTU-like cysteine protease

    18. XM_011531033.4 → XP_011529335.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X9

      See identical proteins and their annotated locations for XP_011529335.1

      UniProtKB/TrEMBL
      A0A096LPI3
      Conserved Domains (2) summary
      cd20447
      Location:384 → 463
      Tudor_TDRD13; Tudor domain found in Tudor domain-containing protein 13 (TDRD13)
      cl19932
      Location:135 → 241
      OTU; OTU-like cysteine protease

    19. XM_011531032.2 → XP_011529334.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X9

      See identical proteins and their annotated locations for XP_011529334.1

      UniProtKB/TrEMBL
      A0A096LPI3
      Conserved Domains (2) summary
      cd20447
      Location:384 → 463
      Tudor_TDRD13; Tudor domain found in Tudor domain-containing protein 13 (TDRD13)
      cl19932
      Location:135 → 241
      OTU; OTU-like cysteine protease

    20. XM_047442524.1 → XP_047298480.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X12

    21. XM_011531034.3 → XP_011529336.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X14

      Conserved Domains (2) summary
      cd04508
      Location:293 → 341
      TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
      cl19932
      Location:36 → 142
      OTU; OTU-like cysteine protease

    22. XM_047442526.1 → XP_047298482.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X18

    23. XM_047442528.1 → XP_047298484.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X21

    24. XM_047442529.1 → XP_047298485.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X22

    25. XM_047442527.1 → XP_047298483.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X20

    26. XM_017029852.2 → XP_016885341.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X19

    27. XM_047442531.1 → XP_047298487.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X24

    28. XM_047442530.1 → XP_047298486.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X23

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      110129414..110208990
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327894.1 → XP_054183869.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X9

    2. XM_054327888.1 → XP_054183863.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X9

    3. XM_054327878.1 → XP_054183853.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X1

    4. XM_054327884.1 → XP_054183859.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X7

    5. XM_054327880.1 → XP_054183855.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X3

    6. XM_054327882.1 → XP_054183857.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X5

    7. XM_054327891.1 → XP_054183866.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X11

    8. XM_054327879.1 → XP_054183854.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X2

    9. XM_054327881.1 → XP_054183856.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X4

    10. XM_054327890.1 → XP_054183865.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X10

    11. XM_054327883.1 → XP_054183858.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X6

    12. XM_054327885.1 → XP_054183860.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X8

    13. XM_054327893.1 → XP_054183868.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X13

    14. XM_054327889.1 → XP_054183864.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X9

    15. XM_054327897.1 → XP_054183872.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X16

    16. XM_054327896.1 → XP_054183871.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X15

    17. XM_054327898.1 → XP_054183873.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X17

    18. XM_054327886.1 → XP_054183861.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X9

    19. XM_054327887.1 → XP_054183862.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X9

    20. XM_054327892.1 → XP_054183867.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X12

    21. XM_054327895.1 → XP_054183870.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X14

    22. XM_054327899.1 → XP_054183874.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X18

    23. XM_054327902.1 → XP_054183877.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X21

    24. XM_054327903.1 → XP_054183878.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X22

    25. XM_054327901.1 → XP_054183876.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X20

    26. XM_054327900.1 → XP_054183875.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X19

    27. XM_054327905.1 → XP_054183880.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X24

    28. XM_054327904.1 → XP_054183879.1  putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform X23

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_024810.1: Suppressed sequence

      Description
      NM_024810.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NP73.2 GenPept UniProtKB/Swiss-Prot:Q9NP73

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous