Your browser version may not work well with NCBI's Web applications. More information here...

1: UBA1 ubiquitin-like modifier activating enzyme 1 [ Homo sapiens ]

GeneID: 7317 updated 05-Jul-2009

[Top][Help]Summary

Official Symbol
UBA1provided by HGNC
Official Full Name
ubiquitin-like modifier activating enzyme 1provided by HGNC
Primary source
HGNC:12469
Locus tag
CTD-2522E6.1
See related
Ensembl:ENSG00000130985; HPRD:02440; MIM:314370
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; SMAX2; UBA1A; UBE1X; MGC4781; UBA1
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]

[Top][Help]Genomic regions, transcripts, and products

Go to reference sequence detailsTry our new Sequence Viewer




Genomic context[Top][Help]

chromosome: X; Location: Xp11.23See UBA1 in MapViewer

[Top][Help]Bibliography

Related Articles in PubMed

GeneRIFs: Gene References Into FunctionWhat's a GeneRIF?

PubMed 1. high-level expression of UBE1 was seen inextranodal NK/T cell lymphoma, nasal type; there was no significant difference between UBE1 expression and patients' outcome
PubMed 2. Observational study of gene-disease association. (HuGE Navigator)
PubMed 3. Large-scale mutation analysis in genes resulted in detection of 3 rare novel variants in exon 15 of UBE1 that segregate with X-linked infantile spinal muscular atrophy.
PubMed 4. Human Uba6 and Ube1 have distinct preferences for E2 charging in vitro, and their specificity depends in part on their C-terminal ubiquitin-fold domains, which recruit E2s
PubMed 5. In conclusion, nUBE1L is a novel human E1 like gene highly expressed in adult testis, which plays key role in ubiquitin system, and accordingly influences spermatogenesis and male fertility.
PubMed 6. unusual type of regulation at the level of the E1 enzyme is likely to affect numerous cellular processes and may represent a strategy to coordinate multiple phenotypic changes upon differentiation by using E1 as a "master switch."
PubMed 7. analysis of ATP.Mg2+ binding in the catalytic cycle of ubiquitin-activating enzyme
Submit: New GeneRIFCorrection

[Top][Help]HIV-1 protein interactions

Protein    Interaction
1.Tat    Ubiquitination of HIV-1 Tat by Hdm2 requires ubiquitin-activating enzyme E1       PubMed

Go to the HIV-1, Human Protein Interaction Database


[Top][Help]Interactions

Description ..........
  Product Interactant Other Gene Complex Source Pubs          
 
  NP_003325.2   NP_006635.2   HSPH1     HPRD   PubMed
 
  NP_003325.2   NP_002403.1   MGMT     HPRD   PubMed
Reconstituted Complex
  BioGRID:113165   BioGRID:107056   BARD1     BioGRID   PubMed
Reconstituted Complex
  BioGRID:113165   BioGRID:107140   BRCA1     BioGRID   PubMed
Reconstituted Complex
  BioGRID:113165   BioGRID:114457   BTRC     BioGRID   PubMed
Reconstituted Complex
  BioGRID:113165   BioGRID:107315   CBL     BioGRID   PubMed
Reconstituted Complex
  BioGRID:113165   BioGRID:115021   DZIP3     BioGRID   PubMed
Reconstituted Complex
  BioGRID:113165   BioGRID:108474   FANCD2     BioGRID   PubMed
Reconstituted Complex
  BioGRID:113165   BioGRID:114593   HGS     BioGRID   PubMed
Reconstituted Complex
  BioGRID:113165   BioGRID:116022   HSPH1     BioGRID   PubMed
Reconstituted Complex
  BioGRID:113165   BioGRID:110811   NEDD4     BioGRID   PubMed
Reconstituted Complex
  BioGRID:113165   BioGRID:116915   NEDD4L     BioGRID   PubMed
Reconstituted Complex
  BioGRID:113165   BioGRID:111426   POLR2A     BioGRID   PubMed
Reconstituted Complex
  BioGRID:113165   BioGRID:115862   RBCK1     BioGRID   PubMed
Reconstituted Complex
  BioGRID:113165   BioGRID:115563   STUB1     BioGRID   PubMed
Affinity Capture-MS
  BioGRID:113165   BioGRID:113164   UBC     BioGRID   PubMed

[Top][Help]General gene information

Markers

INE1_8829(e-PCR)
Links: UniSTS:467726
mUbe1y(e-PCR)
Links: UniSTS:514597
DXS6974E(e-PCR)
Links: UniSTS:31527
Alternate names: GDB:444765; RH11388; RH35768; stSG2926
D8S2279(e-PCR)
Links: UniSTS:473907
Alternate name: GDB:1323207
AL032564(e-PCR)
Links: UniSTS:93239
Alternate name: stSG51209
RH48434(e-PCR)
Links: UniSTS:34369
Alternate name: stSG30227
G42694(e-PCR)
Links: UniSTS:140881
Alternate name: sY754
RH18112(e-PCR)
Links: UniSTS:12632
Alternate name: X56976
WI-18308(e-PCR)
Links: UniSTS:80301
Alternate names: EST373748; RH63617
AL031251(e-PCR)
Links: UniSTS:9141
Alternate name: stSG51215
MARC_4929-4930:991938967:3(e-PCR)
Links: UniSTS:231125
NoName(e-PCR)
Links: UniSTS:484337

Phenotypes

Arthrogryposis, X-linked (spinal muscular atrophy, infantile, X-linked)
MIM: 301830
Spinal muscular atrophy, X-linked 2, infantile
MIM: 301830

Pathways

KEGG pathway: Parkinson's disease
05020
KEGG pathway: Ubiquitin mediated proteolysis
04120

Homology

Mouse, Rat
Map Viewer

GeneOntology Provided by GOA

Function Evidence
ATP binding IEA
ligase activity IEA
nucleotide binding IEA
protein binding
PubMed 16227972,17956732		 IPI PubMed
small protein activating enzyme activity IEA
Process Evidence
cell death IEA
metabolic process IEA
modification-dependent protein catabolic process IEA
protein modification process IEA
Component Evidence
cytoplasm
PubMed 18029348		 IDA PubMed
nucleus
PubMed 18029348		 IDA PubMed

[Top][Help]General protein information

Preferred Names
ubiquitin-activating enzyme E1
Names
ubiquitin-activating enzyme E1
OTTHUMP00000023197
OTTHUMP00000023198
UBA1, ubiquitin-activating enzyme E1 homolog A
A1S9T and BN75 temperature sensitivity complementing
NP_003325.2
EC 6.3.2.19
NP_695012.1
EC 6.3.2.19

[Top][Help]NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

Genomic

  1. NG_009161.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_003334.3→NP_003325.2 ubiquitin-activating enzyme E1

    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
    Conserved Domains (6) summary
    cd01490
    Location:470–780
    Blast Score:1344
    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)...
    cd01491
    Location:54–303
    Blast Score:1114
    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)...
    pfam02134
    Location:753–820
    Blast Score:204
    UBACT; Repeat in ubiquitin-activating (UBA) protein
    cl00287
    Location:843–1011
    Blast Score:613
    Location:394–436
    Blast Score:225
    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...
    TIGR01408
    Location:49–1058
    Blast Score:3165
    Ube1; ubiquitin-activating enzyme E1

  2. NM_153280.2→NP_695012.1 ubiquitin-activating enzyme E1

    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
    Conserved Domains (6) summary
    cd01490
    Location:470–780
    Blast Score:1344
    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)...
    cd01491
    Location:54–303
    Blast Score:1114
    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)...
    pfam02134
    Location:753–820
    Blast Score:204
    UBACT; Repeat in ubiquitin-activating (UBA) protein
    cl00287
    Location:843–1011
    Blast Score:613
    Location:394–436
    Blast Score:225
    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...
    TIGR01408
    Location:49–1058
    Blast Score:3165
    Ube1; ubiquitin-activating enzyme E1

RefSeqs of Annotated Genomes: Build 37.1

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

Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

Genomic

  1. NC_000023.10 Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

    Range
    47050199..47074527
    Download
    GenBank  FASTA Sequence Viewer (Graphics)

  2. NT_079573.4

    Range
    9901943..9926271
    Download
    GenBank  FASTA Sequence Viewer (Graphics)

Alternate assembly (Celera)

Genomic

  1. AC_000066.1 Alternate assembly (Celera)

    Range
    51245489..51269819
    Download
    GenBank  FASTA Sequence Viewer (Graphics)

  2. NW_927702.1

    Range
    2056830..2081160
    Download
    GenBank  FASTA Sequence Viewer (Graphics)

Alternate assembly (HuRef)

Genomic

  1. AC_000155.1 Alternate assembly (HuRef)

    Range
    44761319..44784789
    Download
    GenBank  FASTA Sequence Viewer (Graphics)

  2. NW_001842362.1

    Range
    2047316..2070786
    Download
    GenBank  FASTA Sequence Viewer (Graphics)

[Top][Help]Related Sequences

Nucleotide   Protein
Genomic   AJ003111.1   CAA05866.1
Genomic   AL513366.11   CAI41703.1
    CAI41704.1
    CAI41705.1
    CAI41706.1
    CAI41707.1
    CAI41708.1
    CAI41710.1
Genomic   CH471164.1   EAW59290.1
    EAW59291.1
    EAW59292.1
    EAW59293.1
mRNA   AF258566.1   AAG23769.1
mRNA   AK097343.1   BAG53454.1
mRNA   AK131341.1    None
mRNA   AK293161.1   BAG56705.1
mRNA   AK296866.1   BAG59429.1
mRNA   BC009900.2    None
mRNA   BC013041.2   AAH13041.1
mRNA   BC020261.1    None
mRNA   BG703038.1    None
mRNA   BI547207.1    None
mRNA   CR594399.1    None
mRNA   CR596473.1    None
mRNA   CR600825.1    None
mRNA   CR621823.1    None
mRNA   M58028.1   AAA61246.1
mRNA   X52897.1   CAA37078.1
mRNA   X56976.1   CAA40296.1
Synthetic   EU176375.1   ABW03826.1
Synthetic   EU176712.1   ABW03513.1
Protein Accession   Links
P22314.3   GenPept   UniProtKB/Swiss-Prot
Q5JRR6   GenPept   UniProtKB/TrEMBL
Q5JRR9   GenPept   UniProtKB/TrEMBL
Q5JRS0   GenPept   UniProtKB/TrEMBL
Q712V1   GenPept   UniProtKB/TrEMBL
Q8WY81   GenPept   UniProtKB/TrEMBL