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Babam1 Gene Detail
Summary
  • Symbol
    Babam1
  • Name
    BRISC and BRCA1 A complex member 1
  • Synonyms
    5430437P03Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1915501
    NCBI Gene: 68251
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:71849505-71857263 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 34.43 cM, cytoband C1
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    268 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1915501
 protein coding gene Chr8:71848809-71857416 (+)
129S1/SvImJ MGP_129S1SvImJ_G0033743
 protein coding gene Chr8:71787872-71795733 (+)
A/J MGP_AJ_G0033726
 protein coding gene Chr8:68868241-68876093 (+)
AKR/J MGP_AKRJ_G0033651
 protein coding gene Chr8:70887687-70900371 (+)
BALB/cJ MGP_BALBcJ_G0033722
 protein coding gene Chr8:69034585-69042513 (+)
C3H/HeJ MGP_C3HHeJ_G0033432
 protein coding gene Chr8:71472261-71480168 (+)
C57BL/6NJ MGP_C57BL6NJ_G0034240
 protein coding gene Chr8:74529169-74537084 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031182
 protein coding gene Chr8:63504714-63512394 (+)
CAST/EiJ MGP_CASTEiJ_G0032757
 protein coding gene Chr8:70926474-70938283 (+)
CBA/J MGP_CBAJ_G0033410
 protein coding gene Chr8:77149420-77162860 (+)
DBA/2J MGP_DBA2J_G0033564
 protein coding gene Chr8:68597574-68605563 (+)
FVB/NJ MGP_FVBNJ_G0033506
 protein coding gene Chr8:67674707-67685629 (+)
LP/J MGP_LPJ_G0033651
 protein coding gene Chr8:71764459-71773907 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033553
 protein coding gene Chr8:79728055-79735979 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0034257
 protein coding gene Chr8:70958559-70968207 (+)
PWK/PhJ MGP_PWKPhJ_G0032464
 protein coding gene Chr8:67869131-67877666 (+)
SPRET/EiJ MGP_SPRETEiJ_G0032301
 protein coding gene Chr8:69920341-69928200 (+)
WSB/EiJ MGP_WSBEiJ_G0032872
 protein coding gene Chr8:71308046-71317310 (+)



Homology
more
  • Human Ortholog
    BABAM1, BRISC and BRCA1 A complex member 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BABAM1, BRISC and BRCA1 A complex member 1
  • Synonyms
    C19orf62, HSPC142, MERIT40, NBA1
  • Links
    NCBI Gene ID: 29086
    neXtProt AC: NX_Q9NWV8
    UniProt: Q9NWV8

  • Chr Location
    19p13.11; chr19:17267376-17281249 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    27 phenotypes from 2 alleles in 2 genetic backgrounds
    2 phenotypes from multigenic genotypes
    10 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.
Mice homozygous for a knock-out allele show thrombocytosis and increased hematopoietic stem cell (HSC) number. HSCs are more resistant to cytotoxic stress and show increased quiescence, decelerated cell cycle kinetics, and enhanced repopulating ability and self-renewal upon serial transplantation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    36
  • GO References
    8
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
membraneless 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
    706
  • cDNA Data
    124
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031820 Ensembl Gene Model | MGI Sequence Detail 7759 C57BL/6J ±  kb
    transcript ENSMUST00000002473 Ensembl | MGI Sequence Detail 1433 Not Applicable  
    polypeptide ENSMUSP00000002473 Ensembl | MGI Sequence Detail 333 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000010328 BRISC and BRCA1-A complex member 1
      (term hierarchy)
    • PDB
      6GVW
    • InterPro Domains
      IPR026126 BRISC and BRCA1-A complex member 1
      IPR036465 von Willebrand factor A-like domain superfamily
    • GlyGen
      Q3UI43 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 124
      cDNA 124

      Microarray probesets 3
    References
    more
    • Summaries
      All 38
      Gene Ontology 8
      Phenotypes 10
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory