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

Gene ID: 7318, updated on 13-May-2022

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; AllianceGenome:HGNC:12471
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; UBE7; 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
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Genomic context

See UBA7 in Genome Data Viewer
Location:
3p21.31
Exon count:
24
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (49805209..49813953, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (49835086..49843840, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (49842642..49851386, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene cadherin related family member 4 Neighboring gene Sharpr-MPRA regulatory region 10954 Neighboring gene inka box actin regulator 1 Neighboring gene microRNA 5193 Neighboring gene TRAF interacting protein Neighboring gene CaM kinase like vesicle associated Neighboring gene RNA, 7SL, cytoplasmic 217, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
EBI GWAS Catalog
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC12713

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ISG15 activating enzyme activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ISG15 activating enzyme activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables ubiquitin-protein transferase activity EXP
Inferred from Experiment
more info
PubMed 
Process Evidence Code Pubs
involved_in ISG15-protein conjugation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in ISG15-protein conjugation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular protein modification process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to DNA damage stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in modification-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in protein modification by small protein conjugation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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)

  1. NM_003335.3NP_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:101010
    ThiF; ThiF family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    49805209..49813953 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    49835086..49843840 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)