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Smarcd1 Gene Detail
Summary
  • Symbol
    Smarcd1
  • Name
    SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1
  • Synonyms
    Baf60a, D15Kz1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1933623
    NCBI Gene: 83797
  • Gene Overview
    MyGene.info: SMARCD1
  • Alliance
    gene page
Location & Maps
more
  • Sequence Map
    Chr15:99702287-99713995 bp, + strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      11709 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 56.13 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    SMARCD1, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SMARCD1, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BAF60A, CRACD1, Rsc6p
  • Links
    NCBI Gene ID: 6602
    neXtProt AC: NX_Q96GM5
    UniProt: Q96GM5

  • Chr Location
    12q13.12; chr12:50085200-50100711 (+)  GRCh38.p7
Human Diseases
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  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    11 phenotypes from 1 allele in 1 genetic background
    3 phenotypes from multigenic genotypes
    22 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
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  • All GO Annotations
    20
  • GO References
    11
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
synapse
vacuole
Click cells to view annotations.
Expression
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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
    132
  • Tissues
    83
  • cDNA Data
    106
  • Literature Summary
    12
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 83797 NCBI Gene Model | MGI Sequence Detail 11709 C57BL/6J ±  kb
transcript NM_031842 RefSeq | MGI Sequence Detail 3153 C57BL/6  
polypeptide Q61466 UniProt | EBI | MGI Sequence Detail 515 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    70 from dbSNP Build 142
  • RFLP
    1
Protein
Information
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  • UniProt
    2 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 member 1
Molecular
Reagents
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  • All nucleic 111
    Genomic 3
    cDNA 107
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-4023, MGI:2145894, MGI:90224
References
more
  • Summaries
    All 69
    Developmental Gene Expression 12
    Diseases 1
    Gene Ontology 11
    Phenotypes 22
  • 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:255165 Meng ZX, et al., Uncoupling Exercise Bioenergetics From Systemic Metabolic Homeostasis by Conditional Inactivation of Baf60 in Skeletal Muscle. Diabetes. 2018 Jan;67(1):85-97
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
04/17/2018
MGI 6.11 		The Jackson Laboratory