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    ALG11 ALG11 alpha-1,2-mannosyltransferase [ Homo sapiens (human) ]

    Gene ID: 440138, updated on 1-Mar-2024

    Summary

    Official Symbol
    ALG11provided by HGNC
    Official Full Name
    ALG11 alpha-1,2-mannosyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:32456
    See related
    Ensembl:ENSG00000253710 MIM:613666; AllianceGenome:HGNC:32456
    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
    GT8; CDG1P
    Summary
    This gene encodes a GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which is localized to the cytosolic side of the endoplasmic reticulum (ER) and catalyzes the transfer of the fourth and fifth mannose residue from GDP-mannose (GDP-Man) to Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol resulting in the production of Man5GlcNAc2-PP-dolichol. Mutations in this gene are associated with congenital disorder of glycosylation type Ip (CDGIP). This gene overlaps but is distinct from the UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) gene. A pseudogene of the GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase has been identified on chromosome 19. [provided by RefSeq, Aug 2010]
    Expression
    Ubiquitous expression in thyroid (RPKM 12.1), kidney (RPKM 8.8) and 25 other tissues See more
    Orthologs
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    Genomic context

    See ALG11 in Genome Data Viewer
    Location:
    13q14.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (52012398..52033600)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (51227214..51248416)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (52586534..52607736)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene transmembrane protein 272 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:52501865-52503064 Neighboring gene CTAGE family member 3, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7783 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7784 Neighboring gene ATPase copper transporting beta Neighboring gene fatty acid binding protein 5 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 15635 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5378 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5379 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5380 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7785 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7786 Neighboring gene UTP14C small subunit processome component Neighboring gene NIMA related kinase 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:52653033-52653791 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:52653792-52654549 Neighboring gene Sharpr-MPRA regulatory region 10224 Neighboring gene Sharpr-MPRA regulatory region 2352 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:52696487-52696693 Neighboring gene uncharacterized LOC101929657 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:52706487-52707686 Neighboring gene uncharacterized LOC124903176 Neighboring gene NIMA related kinase 3

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase
    Names
    GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
    asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog
    asparagine-linked glycosylation protein 11 homolog
    glycolipid 2-alpha-mannosyltransferase
    NP_001004127.2

    NCBI Reference Sequences (RefSeq)

    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_028038.2 RefSeqGene

      Range
      5002..26204
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001004127.3NP_001004127.2  GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase

      See identical proteins and their annotated locations for NP_001004127.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (A) represents the longer transcript and encodes the functional protein.
      Source sequence(s)
      AK025456, AL139082, BC142998
      Consensus CDS
      CCDS31977.1
      UniProtKB/Swiss-Prot
      A5PLP3, B4DKW9, Q2TAA5, Q5TAN9, Q6DKI6, Q96FI7
      UniProtKB/TrEMBL
      A0A3B3IS90
      Related
      ENSP00000430236.1, ENST00000521508.2
      Conserved Domains (1) summary
      cd03806
      Location:63480
      GT1_ALG11_like; This family is most closely related to the GT1 family of glycosyltransferases. ALG11 in yeast is involved in adding the final 1,2-linked Man to the Man5GlcNAc2-PP-Dol synthesized on the cytosolic face of the ER. The deletion analysis of ALG11 was shown ...

    RNA

    1. NR_036571.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (B) lacks two alternate internal exons, compared to variant A. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant A.
      Source sequence(s)
      AL139082

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      52012398..52033600
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      51227214..51248416
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)