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Uba1 Gene Detail
Summary
  • Symbol
    Uba1
  • Name
    ubiquitin-like modifier activating enzyme 1
  • Synonyms
    A1S9, Sbx, Ube-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:98890
    NCBI Gene: 22201
  • Alliance
    gene page
  • Transcription Start Sites
    15 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:20524660-20549420 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 16.15 cM, cytoband A2-A3
  • Mapping Data
    11 experiments
Strain
Comparison
more
  • SNPs within 2kb
    539 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98890
 protein coding gene ChrX:20524565-20549420 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035594
 protein coding gene ChrX:15546477-15570585 (+)
A/J MGP_AJ_G0035571
 protein coding gene ChrX:15636561-15661429 (+)
AKR/J MGP_AKRJ_G0035504
 protein coding gene ChrX:16177724-16205587 (+)
BALB/cJ MGP_BALBcJ_G0035564
 protein coding gene ChrX:15383062-15407411 (+)
C3H/HeJ MGP_C3HHeJ_G0035282
 protein coding gene ChrX:15767144-15792306 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036100
 protein coding gene ChrX:15957902-15981678 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032964
 protein coding gene ChrX:13887698-13910981 (+)
CAST/EiJ MGP_CASTEiJ_G0034573
 protein coding gene ChrX:15060106-15084268 (+)
CBA/J MGP_CBAJ_G0035251
 protein coding gene ChrX:16692043-16717247 (+)
DBA/2J MGP_DBA2J_G0035403
 protein coding gene ChrX:15438988-15464088 (+)
FVB/NJ MGP_FVBNJ_G0035349
 protein coding gene ChrX:15341042-15365076 (+)
LP/J MGP_LPJ_G0035485
 protein coding gene ChrX:15796171-15822552 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035393
 protein coding gene ChrX:16948308-16973240 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036107
 protein coding gene ChrX:15460585-15488908 (+)
PWK/PhJ MGP_PWKPhJ_G0034274
 protein coding gene ChrX:14626395-14651858 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034114
 protein coding gene ChrX:15444268-15470557 (+)
WSB/EiJ MGP_WSBEiJ_G0034708
 protein coding gene ChrX:15328737-15354717 (+)



Homology
more
  • Human Ortholog
    UBA1, ubiquitin like modifier activating enzyme 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    UBA1, ubiquitin like modifier activating enzyme 1
  • Synonyms
    A1S9, A1S9T, A1ST, AMCX1, CFAP124, GXP1, POC20, SMAX2, UBA1A, UBE1, UBE1X, VEXAS
  • Links
    NCBI Gene ID: 7317
    neXtProt AC: NX_P22314
    UniProt: P22314

  • Chr Location
    Xp11.3; chrX:47190847-47215128 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with human UBA1 associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    2 phenotypes from 1 allele in 1 genetic background
    1 phenotype from multigenic genotypes
    7 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Male mice hemozygous for a null allele exhibit peri-implantation lethality.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    35
  • GO References
    9
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    760
  • Tissues
    15
  • cDNA Data
    723
  • Literature Summary
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 22201 NCBI Gene Model | MGI Sequence Detail 24761 C57BL/6J ±  kb
    transcript NM_001276317 RefSeq | MGI Sequence Detail 4153 C57BL/6  
    polypeptide Q02053 UniProt | EBI | MGI Sequence Detail 1058 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000016950 ubiquitin-like modifier-activating enzyme 1
      (term hierarchy)
    • PDB
      1Z7L, 2LZJ, 2V31
    • EC
      6.2.1.45
    • InterPro Domains
      IPR045886 ThiF/MoeB/HesA family
      IPR000594 THIF-type NAD/FAD binding fold
      IPR035985 Ubiquitin-activating enzyme
      IPR018075 Ubiquitin-activating enzyme E1
      IPR018074 Ubiquitin-activating enzyme E1, conserved site
      IPR018965 Ubiquitin-activating enzyme E1, C-terminal
      IPR038252 Ubiquitin-activating enzyme E1, C-terminal domain superfamily
      IPR033127 Ubiquitin-activating enzyme E1, Cys active site
      IPR032418 Ubiquitin-activating enzyme E1, FCCH domain
      IPR042302 Ubiquitin-activating enzyme E1, FCCH domain superfamily
      IPR032420 Ubiquitin-activating enzyme E1, four-helix bundle
      IPR042449 Ubiquitin-activating enzyme E1, inactive adenylation domain, subdomain 1
      IPR042063 Ubiquitin-activating enzyme E1, SCCH domain
      IPR019572 Ubiquitin-activating enzyme, SCCH domain
      IPR000011 Ubiquitin/SUMO-activating enzyme E1-like
    • GlyGen
      Q02053 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 731
      Genomic 1
      cDNA 726
      Primer pair 3
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-1003, MGD-MRK-14297, MGD-MRK-15328, MGD-MRK-15331, MGI:2147838
    References
    more
    • Summaries
      All 70
      Developmental Gene Expression 9
      Gene Ontology 9
      Phenotypes 7
    • Earliest
      J:615 Kay GF, et al., A candidate spermatogenesis gene on the mouse Y chromosome is homologous to ubiquitin-activating enzyme E1. Nature. 1991 Dec 12;354(6353):486-9
    • Latest
      J:330439 Liu H, et al., Validation of superior reference genes in mouse submandibular glands under developmental and functional regeneration states. Int J Mol Med. 2022 Nov;50(5)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    10/29/2024
    MGI 6.24     		The Jackson Laboratory