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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
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: HGNC, HomoloGene
  • Synonyms
    ADERM, ETL1, HEL1
  • Links
    NCBI Gene ID: 56916
    neXtProt AC: NX_Q9H4L7

  • Chr Location
    4q22.3; chr4:94207608-94291292 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human SMARCAD1 associations

Human Disease Mouse Models
       Adermatoglyphia; ADERM   OMIM: 136000
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • 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
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.
  • All Mutations and Alleles
    318
  • Gene trapped
    313
  • Targeted
    5
  • Incidental Mutations
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
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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
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  • SNPs within 2kb
    187 from dbSNP Build 142
Protein
Information
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  • 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
    IPR000330 SNF2-related, N-terminal domain
    IPR003892 Ubiquitin system component Cue
Molecular
Reagents
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  • All nucleic 160
    Genomic 1
    cDNA 157
    Primer pair 1
    Other 1

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-7699, MGD-MRK-9660, MGI:2141618, MGI:2141670, MGI:93794
References
more
  • Summaries
    All 48
    Developmental Gene Expression 5
    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
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory