InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SMARCAD1

Summary

InnateDB Protein

IDBP-30362.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SMARCAD1

Protein Name

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

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000351947

InnateDB Gene

IDBG-30360 (SMARCAD1)

Protein Structure

UniProt Annotation

Function

DNA helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity and is both required for DNA repair and heterochromatin organization. Promotes DNA end resection of double-strand breaks (DSBs) following DNA damage: probably acts by weakening histone DNA interactions in nucleosomes flanking DSBs. Required for the restoration of heterochromatin organization after replication. Acts at replication sites to facilitate the maintenance of heterochromatin by directing H3 and H4 histones deacetylation, H3 'Lys-9' trimethylation (H3K9me3) and restoration of silencing. {ECO:0000269PubMed:21549307, ECO:0000269PubMed:22960744}.

Subcellular Localization

Nucleus. Chromosome. Note=Colocalizes with PCNA at replication forks during S phase. Recruited to double- strand breaks (DSBs) sites of DNA damage.

Disease Associations

Adermatoglyphia (ADERM) [MIM:136000]: An autosomal dominant condition characterized by the lack of epidermal ridges on the palms and soles, which results in the absence of fingerprints, and is associated with a reduced number of sweat gland openings and reduced sweating of palms and soles. {ECO:0000269PubMed:21820097}. Note=The disease is caused by mutations affecting the gene represented in this entry. A splice site mutation causing aberrant splicing of isoform 3 is likely to exert a loss-of-function effect and is associated with ADERM.

Tissue Specificity

Isoform 1 is expressed ubiquitously. Isoform 3 is expressed mainly in skin, fibroblasts, keratinocytes and esophagus. {ECO:0000269PubMed:11031099, ECO:0000269PubMed:21820097}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 124 experimentally validated interaction(s) in this database.

Experimentally validated
Total	124 [view]
Protein-Protein	124 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003676	nucleic acid binding
GO:0003677	DNA binding
GO:0004386	helicase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0016787	hydrolase activity

Biological Process

GO:0000018	regulation of DNA recombination
GO:0000729	DNA double-strand break processing
GO:0006338	chromatin remodeling
GO:0009117	nucleotide metabolic process
GO:0016568	chromatin modification
GO:0043044	ATP-dependent chromatin remodeling
GO:0045893	positive regulation of transcription, DNA-templated
GO:0051260	protein homooligomerization
GO:0051304	chromosome separation
GO:0070932	histone H3 deacetylation
GO:0070933	histone H4 deacetylation

Cellular Component

GO:0000792	heterochromatin
GO:0005634	nucleus
GO:0016363	nuclear matrix
GO:0035861	site of double-strand break
GO:0043596	nuclear replication fork

Protein Structure and Domains

PDB ID

InterPro

IPR000330 SNF2-related
IPR001650 Helicase, C-terminal
IPR003892 Ubiquitin system component Cue
IPR006935 Helicase/UvrB domain
IPR009060 UBA-like
IPR014001 Helicase, superfamily 1/2, ATP-binding domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00176
PF00271
PF02845
PF04851

PRINTS

PIRSF

SMART

SM00490
SM00546
SM00487

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9H4L7