About   Help   FAQ
Smarcad1 Gene Detail
Summary
  • Symbol
    Smarcad1
  • Name
    SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
  • Synonyms
    D6Pas1, Etl1, mKIAA1122
  • Feature Type
    protein coding gene
  • IDs
    MGI:95453
    NCBI Gene: 13990
  • Gene Overview
    MyGene.info: SMARCAD1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr6:65042583-65116061 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      73479 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 30.11 cM
  • Mapping Data
    7 experiments
Homology
more
  • Human Ortholog
    SMARCAD1, SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
  • Vertebrate Orthologs
    11
  • Human Ortholog
    SMARCAD1, SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ADERM, BASNS, ETL1, HEL1
  • Links
    NCBI Gene ID: 56916
    neXtProt AC: NX_Q9H4L7
    UniProt: Q9H4L7

  • Chr Location
    4q22.3; chr4:94207608-94291292 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Smarcad1 mouse models

Human Disease Mouse Models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    28 phenotypes from 2 alleles in 2 genetic backgrounds
    14 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygotes for a targeted null mutation exhibit retarded growth, impaired fertility, skeletal dysplasias, and peri- and postnatal lethality. Mutant phenotypes are influenced by genetic background.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000057081 VEGA Gene Model | MGI Sequence Detail 73479 C57BL/6J ±  kb
    transcript OTTMUST00000140580 VEGA | MGI Sequence Detail 5168 Not Applicable  
    polypeptide OTTMUSP00000073610 VEGA | MGI Sequence Detail 1021 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      187 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000032458 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1
    • EC
    • InterPro Domains
      IPR001650 Helicase, C-terminal
      IPR014001 Helicase superfamily 1/2, ATP-binding domain
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
      IPR038718 SNF2-like, N-terminal domain superfamily
      IPR000330 SNF2-related, N-terminal domain
      IPR003892 Ubiquitin system component Cue
    Molecular
    Reagents
    less
    • All nucleic 163
      Genomic 1
      cDNA 160
      Primer pair 1
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-7699, MGD-MRK-9660, MGI:2141618, MGI:2141670, MGI:93794
    References
    more
    • Summaries
      All 49
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 6
      Phenotypes 14
    • Earliest
      J:14930 O'Kane CJ, et al., Detection in situ of genomic regulatory elements in Drosophila. Proc Natl Acad Sci U S A. 1987 Dec;84(24):9123-7
    • Latest
      J:183196 Rowbotham SP, et al., Maintenance of silent chromatin through replication requires SWI/SNF-like chromatin remodeler SMARCAD1. Mol Cell. 2011 May 6;42(3):285-96

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    07/31/2018
    MGI 6.12
    The Jackson Laboratory