UBA7 ubiquitin like modifier activating enzyme 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UBA7provided by HGNC
Official Full Name: ubiquitin like modifier activating enzyme 7provided by HGNC
Primary source: HGNC:HGNC:12471
See related: Ensembl:ENSG00000182179 MIM:191325
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: D8; UBE2; UBA1B; UBE1L
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 E1 ubiquitin-activating enzyme family. The encoded enzyme is a retinoid target that triggers promyelocytic leukemia (PML)/retinoic acid receptor alpha (RARalpha) degradation and apoptosis in acute promyelocytic leukemia, where it is involved in the conjugation of the ubiquitin-like interferon-stimulated gene 15 protein. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in spleen (RPKM 37.8), lymph node (RPKM 34.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p21.31

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
109.20210226	current	GRCh38.p13 (GCF_000001405.39)	3	NC_000003.12 (49805205..49813953, complement)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (49842642..49851386, complement)

Chromosome 3 - NC_000003.12 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?

TNF-alpha, similar to the response by IFN-beta, could directly induce expression of ISG15 and its conjugation machinery, UbE1L and UbcH8, in human lung carcinoma.
Title: Up-regulation of interferon-stimulated gene 15 and its conjugation machinery, UbE1L and UbcH8 expression by tumor necrosis factor-α through p38 MAPK and JNK signaling pathways in human lung carcinoma.
RNF170, an endoplasmic reticulum (ER)-associated ubiquitin E3 ligase, interacted with pUL50 and promoted pUL50-mediated UBE1L degradation via ubiquitination.
Title: Transmembrane Protein pUL50 of Human Cytomegalovirus Inhibits ISGylation by Downregulating UBE1L.
the cellular effects of progerin expression in Hutchinson-Gilford progeria syndrome are transduced, at least in part, through reduced function of the Ran GTPase and E2 SUMOylation pathways.
Title: The defective nuclear lamina in Hutchinson-gilford progeria syndrome disrupts the nucleocytoplasmic Ran gradient and inhibits nuclear localization of Ubc9.
Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
Title: Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association analysis of 3p21 with Crohn's disease in a New Zealand population.
UBE1L-ISG15 preferentially inhibits cyclin D1 in lung cancer
Title: UBE1L causes lung cancer growth suppression by targeting cyclin D1.
Ube1L was required for transfer of ISG15 to UbcH8 and for binding of Ube1L to UbcH8
Title: The basis for selective E1-E2 interactions in the ISG15 conjugation system.
RA treatment of APL and other RA-responsive leukemic cells induced expression of UBE1L and ISG15 as well as intracellular ISG15 conjugates. A physical association was found between UBE1L and ISG15 in vivo.
Title: Involvement of UBE1L in ISG15 conjugation during retinoid-induced differentiation of acute promyelocytic leukemia.
UBE1L is a retinoid target that triggers PML/RARalpha degradation and apoptosis in acute promyelocytic leukemia
Title: UBE1L is a retinoid target that triggers PML/RARalpha degradation and apoptosis in acute promyelocytic leukemia.

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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

Associated conditions

Description	Tests
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. GeneReviews: Not available
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. GeneReviews: Not available

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

RH17798 (e-PCR)
- UniSTS:48916

SGC33684 (e-PCR)
- UniSTS:21077

GDB:365672 (e-PCR)
- UniSTS:156809

RH103198 (e-PCR)
- UniSTS:97531

Homology

Homologs of the UBA7 gene: The UBA7 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, and rat.
Orthologs from Annotation Pipeline: 244 organisms have orthologs with human gene UBA7
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
ISG15 activating enzyme activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
ISG15 activating enzyme activity	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
ubiquitin-protein transferase activity	EXP Inferred from Experiment more info	PubMed

Process	Evidence Code	Pubs
ISG15-protein conjugation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
ISG15-protein conjugation	IDA Inferred from Direct Assay more info	PubMed
cellular protein modification process	IDA Inferred from Direct Assay more info	PubMed
cellular response to DNA damage stimulus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
modification-dependent protein catabolic process	IEA Inferred from Electronic Annotation more info
negative regulation of type I interferon production	TAS Traceable Author Statement more info
protein modification by small protein conjugation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
protein phosphopantetheinylation	IEA Inferred from Electronic Annotation more info
protein ubiquitination	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cytosol	TAS Traceable Author Statement more info
nucleoplasm	TAS Traceable Author Statement more info
nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: ubiquitin-like modifier-activating enzyme 7

Names: UBA1, ubiquitin-activating enzyme E1 homolog B; UBA7, ubiquitin-activating enzyme E1; ubiquitin-activating enzyme 7; ubiquitin-activating enzyme E1 homolog; ubiquitin-activating enzyme E1-related protein; ubiquitin-activating enzyme-2

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_003335.3 → NP_003326.2 ubiquitin-like modifier-activating enzyme 7

See identical proteins and their annotated locations for NP_003326.2

Status: REVIEWED

Source sequence(s)

BC006378, BM152341

Consensus CDS

CCDS2805.1

UniProtKB/Swiss-Prot

P41226

Related

ENSP00000333266.3, ENST00000333486.4

Conserved Domains (1) summary

cl25380
Location:10 → 1010

ThiF; ThiF family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p13 Primary Assembly

Range

49805205..49813953 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011534072.1 → XP_011532374.1 ubiquitin-like modifier-activating enzyme 7 isoform X5

Conserved Domains (2) summary

pfam16191
Location:47 → 110

E1_4HB; Ubiquitin-activating enzyme E1 four-helix bundle

cl22428
Location:218 → 751

E1_enzyme_family; Superfamily of activating enzymes (E1) of the ubiquitin-like proteins. This family includes classical ubiquitin-activating enzymes E1, ubiquitin-like (ubl) activating enzymes and other mechanistic homologes, like MoeB, Thif1 and others. The common ...
XM_011534070.1 → XP_011532372.1 ubiquitin-like modifier-activating enzyme 7 isoform X3

Conserved Domains (4) summary

cd01491
Location:14 → 399

Ube1_repeat1; Ubiquitin activating enzyme (E1), repeat 1. E1, a highly conserved small protein present universally in eukaryotic cells, is part of cascade to attach ubiquitin (Ub) covalently to substrate proteins. This cascade consists of activating (E1), conjugating ...

TIGR01408
Location:10 → 958

Ube1; ubiquitin-activating enzyme E1

pfam16191
Location:263 → 326

E1_4HB; Ubiquitin-activating enzyme E1 four-helix bundle

cl22428
Location:430 → 915

E1_enzyme_family; Superfamily of activating enzymes (E1) of the ubiquitin-like proteins. This family includes classical ubiquitin-activating enzymes E1, ubiquitin-like (ubl) activating enzymes and other mechanistic homologes, like MoeB, Thif1 and others. The common ...
XM_011534071.1 → XP_011532373.1 ubiquitin-like modifier-activating enzyme 7 isoform X4

Conserved Domains (4) summary

cd01491
Location:14 → 399

Ube1_repeat1; Ubiquitin activating enzyme (E1), repeat 1. E1, a highly conserved small protein present universally in eukaryotic cells, is part of cascade to attach ubiquitin (Ub) covalently to substrate proteins. This cascade consists of activating (E1), conjugating ...

TIGR01408
Location:10 → 908

Ube1; ubiquitin-activating enzyme E1

pfam16191
Location:263 → 326

E1_4HB; Ubiquitin-activating enzyme E1 four-helix bundle

cl22428
Location:438 → 865

E1_enzyme_family; Superfamily of activating enzymes (E1) of the ubiquitin-like proteins. This family includes classical ubiquitin-activating enzymes E1, ubiquitin-like (ubl) activating enzymes and other mechanistic homologes, like MoeB, Thif1 and others. The common ...
XM_005265430.2 → XP_005265487.1 ubiquitin-like modifier-activating enzyme 7 isoform X2

Conserved Domains (4) summary

cd01491
Location:14 → 399

Ube1_repeat1; Ubiquitin activating enzyme (E1), repeat 1. E1, a highly conserved small protein present universally in eukaryotic cells, is part of cascade to attach ubiquitin (Ub) covalently to substrate proteins. This cascade consists of activating (E1), conjugating ...

TIGR01408
Location:10 → 985

Ube1; ubiquitin-activating enzyme E1

pfam16191
Location:263 → 326

E1_4HB; Ubiquitin-activating enzyme E1 four-helix bundle

cl22428
Location:434 → 942

E1_enzyme_family; Superfamily of activating enzymes (E1) of the ubiquitin-like proteins. This family includes classical ubiquitin-activating enzymes E1, ubiquitin-like (ubl) activating enzymes and other mechanistic homologes, like MoeB, Thif1 and others. The common ...
XM_006713321.2 → XP_006713384.1 ubiquitin-like modifier-activating enzyme 7 isoform X1

Conserved Domains (4) summary

cd01491
Location:14 → 399

Ube1_repeat1; Ubiquitin activating enzyme (E1), repeat 1. E1, a highly conserved small protein present universally in eukaryotic cells, is part of cascade to attach ubiquitin (Ub) covalently to substrate proteins. This cascade consists of activating (E1), conjugating ...

TIGR01408
Location:10 → 1003

Ube1; ubiquitin-activating enzyme E1

pfam16191
Location:263 → 326

E1_4HB; Ubiquitin-activating enzyme E1 four-helix bundle

cl22428
Location:434 → 960

E1_enzyme_family; Superfamily of activating enzymes (E1) of the ubiquitin-like proteins. This family includes classical ubiquitin-activating enzymes E1, ubiquitin-like (ubl) activating enzymes and other mechanistic homologes, like MoeB, Thif1 and others. The common ...
XM_024453740.1 → XP_024309508.1 ubiquitin-like modifier-activating enzyme 7 isoform X6

Conserved Domains (1) summary

cl22428
Location:1 → 467

E1_enzyme_family; Superfamily of activating enzymes (E1) of the ubiquitin-like proteins. This family includes classical ubiquitin-activating enzymes E1, ubiquitin-like (ubl) activating enzymes and other mechanistic homologes, like MoeB, Thif1 and others. The common ...