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Smarcad1 Gene Detail
Summary
  • Symbol
    Smarcad1
  • Name
    SNF2 related chromatin remodeling ATPase with DExD box 1
  • Synonyms
    D6Pas1, Etl1, mKIAA1122
  • Feature Type
    protein coding gene
  • IDs
    MGI:95453
    NCBI Gene: 13990
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:65019577-65093045 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 30.11 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1298 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 Chr6:65019567-65093045 (+)
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, SNF2 related chromatin remodeling ATPase with DExD box 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SMARCAD1, SNF2 related chromatin remodeling ATPase with DExD box 1
  • Synonyms
    ADERM, BASNS, ETL1, HEL1, HRZ, TYS
  • Links
    NCBI Gene ID: 56916
    neXtProt AC: NX_Q9H4L7
    UniProt: Q9H4L7

  • Chr Location
    4q22.3; chr4:94207608-94291292 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Smarcad1 mouse models; 2 with human SMARCAD1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
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
    32 phenotypes from 3 alleles in 3 genetic backgrounds
    18 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.
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
    39
  • GO References
    12
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
    963
  • Tissues
    122
  • cDNA Data
    156
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 13990 NCBI Gene Model | MGI Sequence Detail 73469 C57BL/6J ±  kb
    transcript NM_001409790 RefSeq | MGI Sequence Detail 5016 ZRU/MplStud  
    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
      (term hierarchy)
    • EC
      3.6.4.12
    • InterPro Domains
      IPR001650 Helicase, C-terminal domain-like
      IPR014001 Helicase superfamily 1/2, ATP-binding domain
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
      IPR038718 SNF2-like, N-terminal domain superfamily
      IPR000330 SNF2, N-terminal
      IPR049730 SNF2/RAD5-like, C-terminal helicase 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 62
      Developmental Gene Expression 7
      Diseases 1
      Gene Ontology 12
      Phenotypes 18
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory