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Smarcal1
Gene Detail
 Symbol
Name
ID
Smarcal1
SWI/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
MGI:1859183
Synonyms 6030401P21Rik, Mharp
Feature Type protein coding gene
Genetic Map
Chromosome 1
36.72 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr1:72583251-72633134 bp, + strand
From VEGA annotation of GRCm38

  49884 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:8558  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Smarcal1

Human
homologs
Human Homolog SMARCAL1, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
NCBI Gene ID 50485
neXtProt AC  NX_Q9NZC9
Human Synonyms  HARP, HHARP
Human Chr (Location)  2q35; chr2:216412414-216483053 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human SMARCAL1
Mutations,
alleles, and
phenotypes
All mutations/alleles(17) : Gene trapped(11) Targeted(6)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a null allele display reduced B cell counts and increased susceptibility to heat induced mortality. Treatment of homozygous null mice with alpha-amanitin results in phenotypes similar to Schimke Type Immunoosseous Dysplasia.
 
Human Diseases Modeled Using Mouse Smarcal1 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Smarcal1 interacts with 79 markers (Mir19a, Mir19b-1, Mir19b-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (20 annotations)
Process ATP catabolic process, cellular response to DNA damage stimulus, ...
Component DNA replication factor A complex, nucleus, ...
Function annealing helicase activity, ATP binding, ...
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (24)    Tissues (15)    Images (2)
Theiler Stages: 23
Assay TypeResults
RNA in situ 24
cDNA source data(95)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(95) cDNA(95)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000021499 (Evidence)
Ensembl Gene ModelENSMUSG00000039354 (Evidence)
Entrez Gene54380 (Evidence)
UniGene274232
DFCITC1576136, TC1591696, TC1697061
DoTSDT.101737715, DT.110943546, DT.40178063, DT.486058, DT.91335259, DT.94142932, DT.94274510, DT.97379034
NIA Mouse Gene IndexU042174, U077010
EC3.6.4.-
PDB4O66
Consensus CDS ProjectCCDS35609.1
International Mouse Knockout Project StatusSmarcal1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021499 VEGA Gene Model | MGI Sequence Detail 49884 C57BL/6J ±  kb
transcript OTTMUST00000050950 VEGA | MGI Sequence Detail 3059 Not Applicable 
polypeptide OTTMUSP00000023911 VEGA | MGI Sequence Detail 910 Not Applicable 

For the selected sequences
All sequences(74) RefSeq(13) UniProt(3)
Polymorphisms RFLP(1) : SNPs within 2kb(409 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR010003 HARP domain
InterPro IPR001650 Helicase, C-terminal
InterPro IPR014001 Helicase, superfamily 1/2, ATP-binding domain
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
InterPro IPR000330 SNF2-related
Protein Ontology PR:000015261 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1
References (Earliest) J:62169 Coleman MA, et al., Cloning and characterization of HARP/SMARCAL1: a prokaryotic HepA-related SNF2 helicase protein from human and mouse. Genomics. 2000 May 1;65(3):274-82
(Latest) J:183899 Baradaran-Heravi A, et al., Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression. Hum Mol Genet. 2012 Jun 1;21(11):2572-87
All references(39)
Disease annotation references (1)
Other
accession IDs
MGI:2138358, MGI:2445177

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
09/09/2014
MGI 5.19
The Jackson Laboratory