Homo sapiens Protein: SMARCAD1 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-478618.4 | ||||||||||||||||||||||
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 | ENSP00000423286 | ||||||||||||||||||||||
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.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000330
SNF2-related IPR001650 Helicase, C-terminal IPR006935 Helicase/UvrB domain IPR014001 Helicase, superfamily 1/2, ATP-binding domain IPR027417 P-loop containing nucleoside triphosphate hydrolase |
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PFAM |
PF00176
PF00271 PF04851 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00490
SM00487 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q9H4L7 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q9H4L7 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 56916 | ||||||||||||||||||||||
UniGene | Hs.410406 | ||||||||||||||||||||||
RefSeq | NP_001241878 | ||||||||||||||||||||||
HUGO | HGNC:18398 | ||||||||||||||||||||||
OMIM | 612761 | ||||||||||||||||||||||
CCDS | CCDS58914 | ||||||||||||||||||||||
HPRD | 11586 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB032948 AC096746 AK023990 AK027490 AK301668 AL359929 AL512768 AY008271 BC017953 BC045534 | ||||||||||||||||||||||
GenPept | AAG16639 AAH17953 AAH45534 BAA86436 BAB14759 BAB55150 BAH13535 CAB95769 CAC21685 | ||||||||||||||||||||||