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 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; chr2:217277137-217347776 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human SMARCAL1

Alleles and phenotypes

All alleles(17) : Targeted(6) Gene trapped(11)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (17 annotations)

Process	ATP catabolic process, chromatin modification, ...
Component	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 Type	Results
RNA in situ	24

cDNA source data(95)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(95) cDNA(95)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000021499 (Evidence)
Ensembl Gene Model	ENSMUSG00000039354 (Evidence)
Entrez Gene	54380 (Evidence)
UniGene	274232
DFCI	TC1576136, TC1591696, TC1697061
DoTS	DT.101737715, DT.110943546, DT.40178063, DT.486058, DT.91335259, DT.94142932, DT.94274510, DT.97379034
NIA Mouse Gene Index	U042174, U077010
EC	3.6.4.-
Consensus CDS Project	CCDS35609.1
International Mouse Knockout Project Status	Smarcal1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000021499	VEGA Gene Model | MGI Sequence Detail	49884	C57BL/6J
transcript	OTTMUST00000050950	VEGA | MGI Sequence Detail	3059	Not Applicable
polypeptide	OTTMUSP00000023911	VEGA | MGI Sequence Detail	910	Not Applicable

All sequences(69) RefSeq(2) UniProt(3)

Polymorphisms

RFLP(1) : SNPs(279 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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)

Other accession IDs

MGI:2138358, MGI:2445177