UBE2H ubiquitin conjugating enzyme E2 H [Homo sapiens (human)] - Gene

Summary

Official Symbol: UBE2Hprovided by HGNC
Official Full Name: ubiquitin conjugating enzyme E2 Hprovided by HGNC
Primary source: HGNC:HGNC:12484
See related: Ensembl:ENSG00000186591 MIM:601082; AllianceGenome:HGNC:12484
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: GID3; UBC8; UBCH; UBCH2; E2-20K
Summary: The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein sequence is 100% identical to the mouse homolog and 98% identical to the frog and zebrafish homologs. Three alternatively spliced transcript variants have been found for this gene and they encode distinct isoforms. [provided by RefSeq, Feb 2011]
Expression: Ubiquitous expression in heart (RPKM 38.0), adrenal (RPKM 36.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q32.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (129830732..129952960, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (131144032..131266314, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (129470572..129592800, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Predictive Potential of Circulating Ube2h mRNA as an E2 Ubiquitin-Conjugating Enzyme for Diagnosis or Treatment of Alzheimer's Disease.
Title: Predictive Potential of Circulating Ube2h mRNA as an E2 Ubiquitin-Conjugating Enzyme for Diagnosis or Treatment of Alzheimer's Disease.
Tal1 expression activated UBE2H expression, whereas Tal1 knock-down reduced UBE2H expression and ubiquitin transfer activity.
Title: Targets of the Tal1 transcription factor in erythrocytes: E2 ubiquitin conjugase regulation by Tal1.
Results suggest that the UBE2H gene is not implicated in sporadic ALS.
Title: Association study of the ubiquitin conjugating enzyme gene UBE2H in sporadic ALS.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association study of the ubiquitin conjugating enzyme gene UBE2H in sporadic ALS.
UBE2H gene could be one of the 7q-susceptibility loci for autistic disorder.
Title: Mutation screening and association study of the UBE2H gene on chromosome 7q32 in autistic disorder.

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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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of ubiquitin-conjugating enzyme E2H (UBE2H) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH69712 (e-PCR)
- UniSTS:91909

WI-11310 (e-PCR)
- UniSTS:80398

SHGC-35496 (e-PCR)
- UniSTS:23568

D7S2072E (e-PCR)
- UniSTS:71993

WI-12125 (e-PCR)
- UniSTS:3141

G15859 (e-PCR)
- UniSTS:43102

D7S2638 (e-PCR)
- UniSTS:39519

HSC01F092 (e-PCR)
- UniSTS:15751

STS-H93071 (e-PCR)
- UniSTS:15768

RH104132 (e-PCR)
- UniSTS:98457

D7S1462 (e-PCR)
- UniSTS:26268

D7S2072E (e-PCR)
- UniSTS:44706

WI-14752 (e-PCR)
- UniSTS:82853

RH12795 (e-PCR)
- UniSTS:4526

RH45635 (e-PCR)
- UniSTS:64695

D7S2052E (e-PCR)
- UniSTS:35514

RH16438 (e-PCR)
- UniSTS:43471

STS-Z29330 (e-PCR)
- UniSTS:16875

A008X46 (e-PCR)
- UniSTS:57326

RH36422 (e-PCR)
- UniSTS:5364

RH70187 (e-PCR)
- UniSTS:32757

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin conjugating enzyme activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin-protein transferase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in protein K11-linked ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein K48-linked ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein polyubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ubiquitin-conjugating enzyme E2 H

Names: (E3-independent) E2 ubiquitin-conjugating enzyme H; E2 ubiquitin-conjugating enzyme H; GID complex subunit 3, UBC8 homolog; ubiquitin carrier protein H; ubiquitin conjugating enzyme E2H; ubiquitin-conjugating enzyme E2-20K; ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast); ubiquitin-conjugating enzyme E2H (homologous to yeast UBC8); ubiquitin-protein ligase H

NP_001189427.1

EC 2.3.2.23

EC 2.3.2.24

NP_003335.1

EC 2.3.2.23

EC 2.3.2.24

NP_874356.1

EC 2.3.2.23

EC 2.3.2.24

XP_047276752.1

EC 2.3.2.23

EC 2.3.2.24

XP_054214903.1

EC 2.3.2.23

EC 2.3.2.24

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)

NM_001202498.2 → NP_001189427.1 ubiquitin-conjugating enzyme E2 H isoform 3

See identical proteins and their annotated locations for NP_001189427.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) has an alternate splice site in the 5' region, resulting in a downstream AUG start codon, as compared to variant 1. The resulting isoform (3) has a shorter N-terminus, as compared to isoform 1.

Source sequence(s)

AC073320, AC084865, AK026094, BC006277, BI088146

Consensus CDS

CCDS94197.1

UniProtKB/TrEMBL

A0A3B3IU20

Related

ENSP00000497987.1, ENST00000649897.1

Conserved Domains (1) summary

cl00154
Location:1 → 75

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 ...
NM_003344.4 → NP_003335.1 ubiquitin-conjugating enzyme E2 H isoform 1

See identical proteins and their annotated locations for NP_003335.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AB451490, AC073320, AC084865, AK026094

Consensus CDS

CCDS5814.1

UniProtKB/Swiss-Prot

A4D1L6, C9JY93, P37286, P62256, Q7Z6F4

UniProtKB/TrEMBL

A4D1L5

Related

ENSP00000347836.3, ENST00000355621.8

Conserved Domains (1) summary

pfam00179
Location:31 → 145

UQ_con; Ubiquitin-conjugating enzyme
NM_182697.3 → NP_874356.1 ubiquitin-conjugating enzyme E2 H isoform 2

See identical proteins and their annotated locations for NP_874356.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks two consecutive in-frame exons in the coding region, as compared to variant 1. The resulting isoform (2) lacks an internal segment, as compared to isoform 1.

Source sequence(s)

AC073320, AC084865, AK026094, AY302138

Consensus CDS

CCDS47710.1

UniProtKB/Swiss-Prot

P62256

Related

ENSP00000419097.2, ENST00000473814.6

Conserved Domains (1) summary

cl00154
Location:31 → 114

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 ...