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Smarcd1 Gene Detail
Summary
  • Symbol
    Smarcd1
  • Name
    SWI/SNF related BAF chromatin remodeling complex subunit D1
  • Synonyms
    Baf60a, D15Kz1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1933623
    NCBI Gene: 83797
  • Alliance
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:99600175-99611872 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 56.13 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    332 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1933623
 protein coding gene Chr15:99600010-99611872 (+)
129S1/SvImJ MGP_129S1SvImJ_G0022340
 protein coding gene Chr15:101573639-101590834 (+)
A/J MGP_AJ_G0022298
 protein coding gene Chr15:97517260-97529917 (+)
AKR/J MGP_AKRJ_G0022274
 protein coding gene Chr15:100519070-100532875 (+)
BALB/cJ MGP_BALBcJ_G0022304
 protein coding gene Chr15:97704172-97715158 (+)
C3H/HeJ MGP_C3HHeJ_G0022072
 protein coding gene Chr15:100587029-100600960 (+)
C57BL/6NJ MGP_C57BL6NJ_G0022749
 protein coding gene Chr15:105358513-105371040 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020275
 protein coding gene Chr15:93411717-93422635 (+)
CAST/EiJ MGP_CASTEiJ_G0021596
 protein coding gene Chr15:101457324-101469396 (+)
CBA/J MGP_CBAJ_G0022041
 protein coding gene Chr15:108954081-108965067 (+)
DBA/2J MGP_DBA2J_G0022168
 protein coding gene Chr15:96955105-96968475 (+)
FVB/NJ MGP_FVBNJ_G0022148
 protein coding gene Chr15:95946348-95958552 (+)
LP/J MGP_LPJ_G0022239
 protein coding gene Chr15:101721169-101735153 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022168
 protein coding gene Chr15:112835792-112848231 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0022764
 protein coding gene Chr15:100638185-100650549 (+)
PWK/PhJ MGP_PWKPhJ_G0021335
 protein coding gene Chr15:97098757-97110894 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021170
 protein coding gene Chr15:100480246-100491113 (+)
WSB/EiJ MGP_WSBEiJ_G0021647
 protein coding gene Chr15:101153184-101164731 (+)



Homology
more
  • Human Ortholog
    SMARCD1, SWI/SNF related BAF chromatin remodeling complex subunit D1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SMARCD1, SWI/SNF related BAF chromatin remodeling complex subunit D1
  • Synonyms
    BAF60A, CRACD1, CSS11, Rsc6p
  • Links
    NCBI Gene ID: 6602
    neXtProt AC: NX_Q96GM5
    UniProt: Q96GM5

  • Chr Location
    12q13.12; chr12:50085200-50100707 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human SMARCD1 associations

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

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    11 phenotypes from 1 allele in 1 genetic background
    3 phenotypes from multigenic genotypes
    29 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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    51
  • GO References
    34
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
    853
  • Tissues
    93
  • cDNA Data
    107
  • Literature Summary
    24
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 83797 NCBI Gene Model | MGI Sequence Detail 11698 C57BL/6J ±  kb
    transcript NM_031842 RefSeq | MGI Sequence Detail 3142 ZRU/MplStud  
    polypeptide Q61466 UniProt | EBI | MGI Sequence Detail 515 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000015265 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1
      (term hierarchy)
    • PDB
      1UHR
    • InterPro Domains
      IPR019835 SWIB domain
      IPR003121 SWIB/MDM2 domain
      IPR036885 SWIB/MDM2 domain superfamily
      IPR038041 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D 1, SWIB domain
    • GlyGen
      Q61466 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 113
      Genomic 3
      cDNA 108
      Primer pair 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-4023, MGI:2145894, MGI:90224
    References
    more
    • Summaries
      All 109
      Developmental Gene Expression 24
      Diseases 1
      Gene Ontology 34
      Phenotypes 29
    • Earliest
      J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
    • Latest
      J:348148 Zhao Y, et al., Myeloid BAF60a deficiency alters metabolic homeostasis and exacerbates atherosclerosis. Cell Rep. 2023 Sep 26;42(10):113171
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory