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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
  • Alliance
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:65042591-65116061 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 30.11 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    187 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95453
protein coding gene Chr6:65042583-65116061 (+)
129S1/SvImJ MGP_129S1SvImJ_G0030829
protein coding gene Chr6:64968264-65041989 (+)
A/J MGP_AJ_G0030796
protein coding gene Chr6:62126919-62194900 (+)
AKR/J MGP_AKRJ_G0030724
protein coding gene Chr6:64109215-64177149 (+)
BALB/cJ MGP_BALBcJ_G0030807
protein coding gene Chr6:62530069-62601677 (+)
C3H/HeJ MGP_C3HHeJ_G0030905
protein coding gene Chr6:120055976-120128024 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031265
protein coding gene Chr6:66455059-66531080 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028458
protein coding gene Chr6:59477487-59537503 (+)
CAST/EiJ MGP_CASTEiJ_G0029919
protein coding gene Chr6:64367193-64439576 (+)
CBA/J MGP_CBAJ_G0030494
protein coding gene Chr6:69165360-69254811 (+)
DBA/2J MGP_DBA2J_G0030646
protein coding gene Chr6:61815905-61891876 (+)
FVB/NJ MGP_FVBNJ_G0030599
protein coding gene Chr6:61348188-61425647 (+)
LP/J MGP_LPJ_G0030730
protein coding gene Chr6:64921341-64992931 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030634
protein coding gene Chr6:72939764-73019578 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031291
protein coding gene Chr6:64062900-64130088 (+)
PWK/PhJ MGP_PWKPhJ_G0029634
protein coding gene Chr6:60990680-61060756 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029462
protein coding gene Chr6:63583624-63658216 (+)
WSB/EiJ MGP_WSBEiJ_G0030001
protein coding gene Chr6:64343516-64419745 (+)



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, HRZ
  • 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; 1 with human SMARCAD1 associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
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
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  • Phenotype Summary
    31 phenotypes from 3 alleles in 3 genetic backgrounds
    15 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
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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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population 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
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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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 13990 NCBI Gene Model | MGI Sequence Detail 73471 C57BL/6J ±  kb
    transcript NM_007958 RefSeq | MGI Sequence Detail 5174 C57BL/6  
    polypeptide Q04692 UniProt | EBI | MGI Sequence Detail 1021 Not Applicable  
    For the selected sequence
    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 50
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 7
      Phenotypes 15
    • 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:265628 Gaudet P, et al., Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief Bioinform. 2011 Sep;12(5):449-62

    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)
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    Funding Information
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    last database update
    11/26/2019
    MGI 6.14
    The Jackson Laboratory