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

Gene ID: 55293, updated on 11-Apr-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 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Predicted to be involved in several processes, including carbohydrate metabolic process; cellular protein modification process; and protein transport. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in colon (RPKM 4.6), thyroid (RPKM 3.9) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
11p15.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (18529609..18588734, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (18627652..18686813, complement)
105.20220307 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
  • 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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Related articles in PubMed

  1. Identification and characterization of UEV3, a human cDNA with similarities to inactive E2 ubiquitin-conjugating enzymes. Kloor M, et al. Biochim Biophys Acta, 2002 Dec 12. PMID 12427560
  2. Ring finger protein 213 assembles into a sensor for ISGylated proteins with antimicrobial activity. Thery F, et al. Nat Commun, 2021 Oct 1. PMID 34599178, Free PMC Article
  3. Analysis of the human E2 ubiquitin conjugating enzyme protein interaction network. Markson G, et al. Genome Res, 2009 Oct. PMID 19549727, Free PMC Article
  4. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? Nathan JA, et al. EMBO J, 2013 Feb 20. PMID 23314748, Free PMC Article
  5. Interactome and Proteome Dynamics Uncover Immune Modulatory Associations of the Pathogen Sensing Factor cGAS. Lum KK, et al. Cell Syst, 2018 Dec 26. PMID 30471916, Free PMC Article

See all (22) citations in PubMed

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)

Genotypes

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 molecular_function ND
No biological Data available
more info
  
enables ubiquitin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
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_2023_10

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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