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

GeneID: 7317 updated 20-Oct-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

(plus) Go to reference sequence detailsTry our new Sequence Viewer


[Top][Help]Bibliography

Related Articles in PubMed

GeneRIFs: Gene References Into Function What'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 GeneRIF Correction

[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        HPRD    PubMed
 
  NP_003325.2   NP_002403.1        HPRD    PubMed
Reconstituted Complex
  BioGRID:113165   BioGRID:107056        BioGRID    PubMed
Reconstituted Complex
  BioGRID:113165   BioGRID:107140        BioGRID    PubMed
Reconstituted Complex
  BioGRID:113165   BioGRID:114457        BioGRID    PubMed
Reconstituted Complex
  BioGRID:113165   BioGRID:107315        BioGRID    PubMed
Reconstituted Complex
  BioGRID:113165   BioGRID:115021        BioGRID    PubMed
Reconstituted Complex
  BioGRID:113165   BioGRID:108474        BioGRID    PubMed
Reconstituted Complex
  BioGRID:113165   BioGRID:114593        BioGRID    PubMed
Reconstituted Complex
  BioGRID:113165   BioGRID:116022        BioGRID    PubMed
Reconstituted Complex
  BioGRID:113165   BioGRID:110811        BioGRID    PubMed
Reconstituted Complex
  BioGRID:113165   BioGRID:116915        BioGRID    PubMed
Reconstituted Complex
  BioGRID:113165   BioGRID:111426        BioGRID    PubMed
Reconstituted Complex
  BioGRID:113165   BioGRID:115862        BioGRID    PubMed
Reconstituted Complex
  BioGRID:113165   BioGRID:115563        BioGRID    PubMed
Affinity Capture-MS
  BioGRID:113165   BioGRID:113164        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
D8S2279(e-PCR)
Links: UniSTS:473907
AL032564(e-PCR)
Links: UniSTS:93239
RH48434(e-PCR)
Links: UniSTS:34369
G42694(e-PCR)
Links: UniSTS:140881
RH18112(e-PCR)
Links: UniSTS:12632
WI-18308(e-PCR)
Links: UniSTS:80301
AL031251(e-PCR)
Links: UniSTS:9141
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

Homology

Homologs of the UBA1 gene The UBA1 gene is conserved in chimpanzee, dog, cow, mouse, rat, zebrafish, fruit fly, mosquito, C.elegans, S.pombe, S.cerevisiae, K.lactis, E.gossypii, M.grisea, N.crassa, A.thaliana, rice, and P.falciparum.


Map Viewer (Mouse, Rat)

Pathways

KEGG pathway: Parkinson's disease
05012
KEGG pathway: Ubiquitin mediated proteolysis
04120

Gene Ontology Provided by GOA

[Top][Help]General protein information

Preferred Names
ubiquitin-activating enzyme E1
Names
ubiquitin-activating enzyme E1
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
    5000..29328
    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 (5) 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
    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 (5) 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
    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

    Range
    47050198..47074526
    Download
    GenBank FASTA Sequence Viewer (Graphics)

  2. NT_079573.4 

    Range
    9901942..9926270
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (Celera)

Genomic

  1. AC_000066.1

    Range
    51245488..51269818
    Download
    GenBank FASTA Sequence Viewer (Graphics)

  2. NW_927702.1 

    Range
    2056829..2081159
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (HuRef)

Genomic

  1. AC_000155.1

    Range
    44761318..44784788
    Download
    GenBank FASTA Sequence Viewer (Graphics)

  2. NW_001842362.1 

    Range
    2047315..2070785
    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
  other-genetic   EU176375.1   ABW03826.1
  other-genetic   EU176712.1   ABW03513.1
Protein Accession   Links
P22314.3   GenPept   UniProtKB/Swiss-Prot:P22314
Q5JRR6   GenPept   UniProtKB/TrEMBL:Q5JRR6
Q5JRR9   GenPept   UniProtKB/TrEMBL:Q5JRR9
Q5JRS0   GenPept   UniProtKB/TrEMBL:Q5JRS0
Q712V1   GenPept   UniProtKB/TrEMBL:Q712V1
Q8WY81   GenPept   UniProtKB/TrEMBL:Q8WY81

[Top][Help]Additional Links