Smarcad1
Gene Detail

Symbol Name ID

Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 MGI:95453

Synonyms

D6Pas1, Etl1, mKIAA1122

Feature Type

protein coding gene

Genetic Map

Chromosome 6

30.11 cM
Detailed Genetic Map ± 1 cM


Mapping data(7)

Sequence Map

Chr6:65042667-65116049 bp, + strand From NCBI annotation of GRCm38   73383 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Mammalian homology

human; rat; cattle; chimpanzee; dog, domestic    (Mammalian Orthology)
Comparative Map (Mouse/Human Smarcad1 ± 2 cM)

Gene Tree: Smarcad1

Human ortholog

SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 NCBI Gene ID 56916
Human Synonyms: ADERM, ETL1, HEL1
Human Chr4:95128759-95212443 bp, + strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human SMARCAD1 (1)

Alleles and phenotypes

All alleles(317) : Targeted(4) Gene trapped(313)
 

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.

 
Human Diseases Modeled Using Mouse Smarcad1 (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (22 annotations)

Process	ATP-dependent chromatin remodeling, chromatin modification, ...
Component	chromosome, heterochromatin, ...
Function	ATP binding, DNA binding, ...

External Resources: FuncBase

Expression

Literature Summary: (5 records)
Data Summary: Results (252)    Tissues (118)    Images (12)
Theiler Stages: 2, 3, 16, 20, 23, 26, 28

Assay Type	Results
RNA in situ	124
In situ reporter (knock in)	92
RT-PCR	36

cDNA source data(156)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(163) Genomic(1) cDNA(160) Primer pair(1) Other(1)
Microarray probesets(3)

Other database links

Ensembl Gene Model	ENSMUSG00000029920 (Evidence)
Entrez Gene	13990 (Evidence)
UniGene	99113
DFCI	TC1577390, TC1597073, TC1604618, TC1622237
DoTS	DT.101380956, DT.529694, DT.91289950, DT.91446986
EC	3.6.4.12
Consensus CDS Project	CCDS20204.1
International Mouse Knockout Project Status	Smarcad1

Sequences

Length	Strain/Species
genomic	13990	NCBI Gene Model | MGI Sequence Detail	73383	C57BL/6J
transcript	NM_007958	RefSeq | MGI Sequence Detail	5098	C57BL/6
polypeptide	Q04692	UniProt | EBI | MGI Sequence Detail	1021	Not Applicable

All sequences(32) RefSeq(4) UniProt(3)

Polymorphisms

SNPs(158 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR001650	Helicase, C-terminal
InterPro	IPR014001	Helicase, superfamily 1/2, ATP-binding domain
InterPro	IPR000330	SNF2-related
InterPro	IPR003892	Ubiquitin system component Cue
Protein Ontology	PR:000032458	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1

Graphical View of Protein Domain Structure

References

(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
All references(49)

Other accession IDs

MGD-MRK-7699, MGD-MRK-9660, MGI:2141618, MGI:2141670, MGI:93794