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UBA1 ubiquitin like modifier activating enzyme 1 [ Homo sapiens (human) ]

Gene ID: 7317, updated on 12-Aug-2018

Summary

Official Symbol
UBA1provided by HGNC
Official Full Name
ubiquitin like modifier activating enzyme 1provided by HGNC
Primary source
HGNC:HGNC:12469
See related
Ensembl:ENSG00000130985 MIM:314370; Vega:OTTHUMG00000021436
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
A1S9; A1ST; GXP1; UBE1; A1S9T; AMCX1; POC20; SMAX2; UBA1A; UBE1X; CFAP124
Summary
The protein encoded by this gene catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation. This gene complements an X-linked mouse temperature-sensitive defect in DNA synthesis, and thus may function in DNA repair. It is part of a gene cluster on chromosome Xp11.23. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in thyroid (RPKM 27.6), brain (RPKM 26.8) and 25 other tissues See more
Orthologs

Genomic context

See UBA1 in Genome Data Viewer
Location:
Xp11.3
Exon count:
31
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (47190800..47215128)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (47050199..47074527)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene NADH:ubiquinone oxidoreductase subunit B11 Neighboring gene RNA binding motif protein 10 Neighboring gene inositol 1,3,4-triphosphate 5/6 kinase pseudogene Neighboring gene uncharacterized LOC105373194 Neighboring gene inactivation escape 1 Neighboring gene cyclin dependent kinase 16 Neighboring gene ubiquitin specific peptidase 11

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Ubiquitination of HIV-1 Tat by Hdm2 requires ubiquitin-activating enzyme E1 PubMed
Vif vif HIV-1 is dependent on UBA1 (lysine at position 48, UbK48) for A3G degradation; results suggest that UbK48 is the primary ubiquitin conjugate needed for A3G degradation PubMed
integrase gag-pol HIV-1 IN is identified to have a physical interaction with ubiquitin-like modifier activating enzyme 1 (UBA1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
    Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
  • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
    Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Parkin-Ubiquitin Proteasomal System pathway, organism-specific biosystem (from WikiPathways)
    Parkin-Ubiquitin Proteasomal System pathway, organism-specific biosystemThis pathway describes the Parkin-Ubiquitin proteasome degradation system.
  • Parkinson's disease, organism-specific biosystem (from KEGG)
    Parkinson's disease, organism-specific biosystemParkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc). Mutations...
  • Parkinsons Disease Pathway, organism-specific biosystem (from WikiPathways)
    Parkinsons Disease Pathway, organism-specific biosystemMost people with Parkinson's disease have idiopathic Parkinson's disease (having no specific known cause). A small proportion of cases, however, can be attributed to known genetic factors. Mutations ...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Proteasome Degradation, organism-specific biosystem (from WikiPathways)
    Proteasome Degradation, organism-specific biosystem
    Proteasome Degradation
  • Protein ubiquitination, organism-specific biosystem (from REACTOME)
    Protein ubiquitination, organism-specific biosystemUbiquitin is a small, 76 amino acid residue protein that is conjugated by E3 ubiquitin ligases to other proteins in order to regulate their function or degradation (enzymatic cascade reviewed in Neut...
  • Synthesis of active ubiquitin: roles of E1 and E2 enzymes, organism-specific biosystem (from REACTOME)
    Synthesis of active ubiquitin: roles of E1 and E2 enzymes, organism-specific biosystemUbiquitin monomers are processed from larger precursors and then activated by formation of a thiol ester bond between ubiquitin and a cysteine residue of an E1 activating enzyme (UBA1 or UBA6, Jin et...
  • Ubiquitin mediated proteolysis, organism-specific biosystem (from KEGG)
    Ubiquitin mediated proteolysis, organism-specific biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
  • Ubiquitin mediated proteolysis, conserved biosystem (from KEGG)
    Ubiquitin mediated proteolysis, conserved biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
  • protein ubiquitylation, organism-specific biosystem (from BIOCYC)
    protein ubiquitylation, organism-specific biosystem
    protein ubiquitylation
  • protein ubiquitylation, conserved biosystem (from BIOCYC)
    protein ubiquitylation, conserved biosystem|FRAME: Ubiquitins Ubiquitin| is a small (76-amino-acids), highly-conserved (almost invariant from yeast to man) regulatory protein that is ubiquitously expressed in eukaryotes. Many proteins are mod...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC4781

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
RNA binding HDA PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin activating enzyme activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin activating enzyme activity IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin activating enzyme activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
cellular response to DNA damage stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
protein ubiquitination TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
colocalizes_with desmosome IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
colocalizes_with heterochromatin IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus HDA PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with rough endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ubiquitin-like modifier-activating enzyme 1
Names
A1S9T and BN75 temperature sensitivity complementing
POC20 centriolar protein homolog
UBA1, ubiquitin-activating enzyme E1 homolog A
testicular secretory protein Li 63
NP_003325.2
NP_695012.1
XP_005272706.1
XP_011542256.1
XP_016885266.1
XP_016885267.1
XP_016885268.1
XP_016885269.1
XP_016885270.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_009161.1 RefSeqGene

    Range
    5001..29329
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003334.3NP_003325.2  ubiquitin-like modifier-activating enzyme 1

    See identical proteins and their annotated locations for NP_003325.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC013041, BI547207, M58028
    Consensus CDS
    CCDS14275.1
    UniProtKB/Swiss-Prot
    P22314
    UniProtKB/TrEMBL
    A0A024R1A3
    Related
    ENSP00000338413.6, OTTHUMP00000023197, ENST00000335972.10, OTTHUMT00000056389
    Conserved Domains (4) summary
    cd01490
    Location:4701011
    Ube1_repeat2; Ubiquitin activating enzyme (E1), repeat 2. 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 ...
    cd01491
    Location:54436
    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:491055
    Ube1; ubiquitin-activating enzyme E1
    pfam16191
    Location:302366
    E1_4HB; Ubiquitin-activating enzyme E1 four-helix bundle
  2. NM_153280.2NP_695012.1  ubiquitin-like modifier-activating enzyme 1

    See identical proteins and their annotated locations for NP_695012.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC013041, BG703038
    Consensus CDS
    CCDS14275.1
    UniProtKB/Swiss-Prot
    P22314
    UniProtKB/TrEMBL
    A0A024R1A3
    Related
    ENSP00000366568.4, OTTHUMP00000023198, ENST00000377351.8, OTTHUMT00000056390
    Conserved Domains (4) summary
    cd01490
    Location:4701011
    Ube1_repeat2; Ubiquitin activating enzyme (E1), repeat 2. 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 ...
    cd01491
    Location:54436
    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:491055
    Ube1; ubiquitin-activating enzyme E1
    pfam16191
    Location:302366
    E1_4HB; Ubiquitin-activating enzyme E1 four-helix bundle

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    47190800..47215128
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005272649.1XP_005272706.1  ubiquitin-like modifier-activating enzyme 1 isoform X4

    See identical proteins and their annotated locations for XP_005272706.1

    Conserved Domains (4) summary
    cd01490
    Location:4761017
    Ube1_repeat2; Ubiquitin activating enzyme (E1), repeat 2. 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 ...
    cd01491
    Location:60442
    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:551061
    Ube1; ubiquitin-activating enzyme E1
    pfam16191
    Location:308372
    E1_4HB; Ubiquitin-activating enzyme E1 four-helix bundle
  2. XM_011543954.2XP_011542256.1  ubiquitin-like modifier-activating enzyme 1 isoform X3

    Conserved Domains (4) summary
    cd01490
    Location:4841025
    Ube1_repeat2; Ubiquitin activating enzyme (E1), repeat 2. 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 ...
    cd01491
    Location:68450
    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:631069
    Ube1; ubiquitin-activating enzyme E1
    pfam16191
    Location:316380
    E1_4HB; Ubiquitin-activating enzyme E1 four-helix bundle
  3. XM_017029779.2XP_016885268.1  ubiquitin-like modifier-activating enzyme 1 isoform X4

    Conserved Domains (4) summary
    cd01490
    Location:4761017
    Ube1_repeat2; Ubiquitin activating enzyme (E1), repeat 2. 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 ...
    cd01491
    Location:60442
    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:551061
    Ube1; ubiquitin-activating enzyme E1
    pfam16191
    Location:308372
    E1_4HB; Ubiquitin-activating enzyme E1 four-helix bundle
  4. XM_017029778.2XP_016885267.1  ubiquitin-like modifier-activating enzyme 1 isoform X2

    Conserved Domains (4) summary
    cd01490
    Location:4981039
    Ube1_repeat2; Ubiquitin activating enzyme (E1), repeat 2. 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 ...
    cd01491
    Location:82464
    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:771083
    Ube1; ubiquitin-activating enzyme E1
    pfam16191
    Location:330394
    E1_4HB; Ubiquitin-activating enzyme E1 four-helix bundle
  5. XM_017029780.1XP_016885269.1  ubiquitin-like modifier-activating enzyme 1 isoform X5

    UniProtKB/Swiss-Prot
    P22314
    UniProtKB/TrEMBL
    A0A024R1A3
    Conserved Domains (4) summary
    cd01490
    Location:4701011
    Ube1_repeat2; Ubiquitin activating enzyme (E1), repeat 2. 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 ...
    cd01491
    Location:54436
    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:491055
    Ube1; ubiquitin-activating enzyme E1
    pfam16191
    Location:302366
    E1_4HB; Ubiquitin-activating enzyme E1 four-helix bundle
  6. XM_017029777.1XP_016885266.1  ubiquitin-like modifier-activating enzyme 1 isoform X1

  7. XM_017029781.1XP_016885270.1  ubiquitin-like modifier-activating enzyme 1 isoform X5

    UniProtKB/Swiss-Prot
    P22314
    UniProtKB/TrEMBL
    A0A024R1A3
    Conserved Domains (4) summary
    cd01490
    Location:4701011
    Ube1_repeat2; Ubiquitin activating enzyme (E1), repeat 2. 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 ...
    cd01491
    Location:54436
    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:491055
    Ube1; ubiquitin-activating enzyme E1
    pfam16191
    Location:302366
    E1_4HB; Ubiquitin-activating enzyme E1 four-helix bundle
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