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

Summary

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, Oct 2024]
Expression: Ubiquitous expression in colon (RPKM 4.6), thyroid (RPKM 3.9) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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

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)

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

D11S955E (e-PCR)
- UniSTS:76839

STS-M78353 (e-PCR)
- UniSTS:30512

D7S2067E (e-PCR)
- UniSTS:151120

UEVLD (e-PCR)
- UniSTS:504159

D15S1477 (e-PCR)
- UniSTS:474482

D11S955E (e-PCR)
- UniSTS:472954

D11S4096 (e-PCR)
- UniSTS:77007

SHGC-151201 (e-PCR)
- UniSTS:173531

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info
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 biological_process	ND No biological Data available more info
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 more info	PubMed

General protein information

Go to the top of the page Help

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)

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.

mRNA and Protein(s)

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
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
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
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
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
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
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
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

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

18529609..18588734 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

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

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.