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    UEVLD UEV and lactate/malate dehyrogenase domains [ Homo sapiens (human) ]

    Gene ID: 55293, updated on 14-Nov-2024

    Summary

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    Official Symbol
    UEVLDprovided by HGNC
    Official Full Name
    UEV and lactate/malate dehyrogenase domainsprovided by HGNC
    Primary source
    HGNC:HGNC:30866
    See related
    Ensembl:ENSG00000151116 MIM:610985; AllianceGenome:HGNC:30866
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ATTP; UEV3
    Summary
    Predicted to enable ubiquitin binding activity. Predicted to be involved in endosome to lysosome transport. Located in extracellular exosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in colon (RPKM 4.6), thyroid (RPKM 3.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UEVLD in Genome Data Viewer
    Location:
    11p15.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (18529609..18588734, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (18627652..18686813, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (18551156..18610281, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene lactate dehydrogenase A like 6A Neighboring gene ReSE screen-validated silencer GRCh37_chr11:18507685-18507894 Neighboring gene tumor susceptibility 101 Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4502 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:18600575-18600756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4503 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4504 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4505 Neighboring gene Sharpr-MPRA regulatory region 13786 Neighboring gene uncharacterized LOC112268073 Neighboring gene MTCH1 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 7651 Neighboring gene mitochondrial sheath formation associated Neighboring gene SPT2 chromatin protein domain containing 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. identification, sequencing and analysis of cDNA in various colon carcinoma cell lines as well as normal and tumor samples from colon
      Title: Identification and characterization of UEV3, a human cDNA with similarities to inactive E2 ubiquitin-conjugating enzymes.
    Submit: New GeneRIF Correction

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ11068

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in carboxylic acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in endosome to lysosome transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein modification process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of ESCRT I complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    ubiquitin-conjugating enzyme E2 variant 3
    Names
    EV and lactate/malate dehydrogenase domain-containing protein
    UEV-3
    signaling molecule ATTP

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001040697.4 → NP_001035787.1  ubiquitin-conjugating enzyme E2 variant 3 isoform a

      See identical proteins and their annotated locations for NP_001035787.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC027544, AC112694
      Consensus CDS
      CCDS41624.1
      UniProtKB/Swiss-Prot
      B2RB69, B4DL43, F5H6L6, H7BYD6, Q6P2F0, Q8IX04, Q96FF5, Q9NUX7
      Related
      ENSP00000379500.2, ENST00000396197.8
      Conserved Domains (3) summary
      cd05293
      Location:180 → 468
      LDH_1; A subgroup of L-lactate dehydrogenases
      PLN02602
      Location:161 → 471
      PLN02602; lactate dehydrogenase
      pfam05743
      Location:21 → 138
      UEV; UEV domain

    2. NM_001261382.3 → NP_001248311.1  ubiquitin-conjugating enzyme E2 variant 3 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (c) lacks an internal segment, compared to isoform a.
      Source sequence(s)
      AC027544, AC112694
      Consensus CDS
      CCDS58124.1
      UniProtKB/Swiss-Prot
      Q8IX04
      Related
      ENSP00000368697.4, ENST00000379387.8
      Conserved Domains (3) summary
      cd05293
      Location:158 → 446
      LDH_1; A subgroup of L-lactate dehydrogenases
      PLN02602
      Location:139 → 449
      PLN02602; lactate dehydrogenase
      pfam05743
      Location:21 → 116
      UEV; UEV domain

    3. NM_001261383.3 → NP_001248312.1  ubiquitin-conjugating enzyme E2 variant 3 isoform d

      See identical proteins and their annotated locations for NP_001248312.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an in-frame exon in the 5' coding region and an exon in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 1. The resulting isoform (d) is shorter; it lacks an internal segment and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC027544, AC112694
      Consensus CDS
      CCDS58123.1
      UniProtKB/Swiss-Prot
      Q8IX04
      Related
      ENSP00000323353.6, ENST00000320750.10
      Conserved Domains (2) summary
      pfam05743
      Location:21 → 116
      UEV; UEV domain
      cl21454
      Location:158 → 339
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    4. NM_001261384.3 → NP_001248313.1  ubiquitin-conjugating enzyme E2 variant 3 isoform e

      See identical proteins and their annotated locations for NP_001248313.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks two exons in the 5' coding region, which results in a downstream start codon, compared to variant 1. The resulting isoform (e) has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AC027544, AC112694
      UniProtKB/TrEMBL
      B4DIA9, B7ZA76
      Conserved Domains (2) summary
      cd05293
      Location:50 → 338
      LDH_1; A subgroup of L-lactate dehydrogenases
      PLN02602
      Location:31 → 341
      PLN02602; lactate dehydrogenase

    5. NM_001261385.3 → NP_001248314.1  ubiquitin-conjugating enzyme E2 variant 3 isoform f

      See identical proteins and their annotated locations for NP_001248314.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) has an alternate 5' exon, which results in a downstream start codon, and also lacks an exon in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 1. The resulting isoform (f) is shorter and has a shorter N-terminus and a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC027544, AC112694
      Consensus CDS
      CCDS58122.1
      UniProtKB/Swiss-Prot
      Q8IX04
      Related
      ENSP00000441092.1, ENST00000535484.5
      Conserved Domains (2) summary
      pfam05743
      Location:1 → 100
      UEV; UEV domain
      cl21454
      Location:142 → 323
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    6. NM_001261386.3 → NP_001248315.1  ubiquitin-conjugating enzyme E2 variant 3 isoform g

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) has multiple differences in the coding region, compared to variant 1. The resulting isoform (g) lacks two internal segments and has a shorter and distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC027544, AC112694
      Consensus CDS
      CCDS58125.1
      UniProtKB/Swiss-Prot
      Q8IX04
      Related
      ENSP00000437538.1, ENST00000541984.5
      Conserved Domains (2) summary
      cl00154
      Location:21 → 67
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic (UBCc) domain. This is part of the ubiquitin-mediated protein degradation pathway in which a thiol-ester linkage forms between a conserved cysteine and the C-terminus of ubiquitin and complexes with ubiquitin ...
      cl21454
      Location:80 → 196
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    7. NM_001297771.3 → NP_001284700.1  ubiquitin-conjugating enzyme E2 variant 3 isoform h

      See identical proteins and their annotated locations for NP_001284700.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) has an alternate 3'-most exon in place of the last six exons compared to variant 1. The resulting isoform (h) has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC027544, AC112694
      Consensus CDS
      CCDS73266.1
      UniProtKB/Swiss-Prot
      Q8IX04
      Related
      ENSP00000300038.7, ENST00000300038.7
      Conserved Domains (2) summary
      pfam05743
      Location:21 → 138
      UEV; UEV domain
      cl21454
      Location:180 → 204
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    8. NM_018314.6 → NP_060784.3  ubiquitin-conjugating enzyme E2 variant 3 isoform b

      See identical proteins and their annotated locations for NP_060784.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 1. The resulting isoform (b) is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC027544, AC112694
      Consensus CDS
      CCDS7843.1
      UniProtKB/Swiss-Prot
      Q8IX04
      Related
      ENSP00000442974.1, ENST00000543987.5
      Conserved Domains (2) summary
      pfam05743
      Location:21 → 138
      UEV; UEV domain
      cl21454
      Location:180 → 361
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      18529609..18588734 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      18627652..18686813 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001040698.1: Suppressed sequence

      Description
      NM_001040698.1: This RefSeq was permanently suppressed because its 3' coding region is highly similar to an Alu repeat and the C-terminus of its protein has no support from any other proteins in the database.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IX04.2 GenPept UniProtKB/Swiss-Prot:Q8IX04

    Gene LinkOut

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

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