InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SMARCAL1

Summary

InnateDB Protein

IDBP-80651.5

Last Modified

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

Gene Symbol

SMARCAL1

Protein Name

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000349823

InnateDB Gene

IDBG-80649 (SMARCAL1)

Protein Structure

UniProt Annotation

Function

ATP-dependent annealing helicase that binds selectively to fork DNA relative to ssDNA or dsDNA and catalyzes the rewinding of the stably unwound DNA. Rewinds single-stranded DNA bubbles that are stably bound by replication protein A (RPA). Acts throughout the genome to reanneal stably unwound DNA, performing the opposite reaction of many enzymes, such as helicases and polymerases, that unwind DNA. May play an important role in DNA damage response by acting at stalled replication forks. {ECO:0000269PubMed:18974355, ECO:0000269PubMed:19793861, ECO:0000269PubMed:19793862}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:19793862, ECO:0000269PubMed:19793863}. Note=Recruited to damaged DNA regions.

Disease Associations

Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]: Causes spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. Approximately half of all patients also exhibit hyperthyroidism, while around half also exhibit episodal cerebral ischemia. {ECO:0000269PubMed:11799392}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitously expressed, with high levels in testis. {ECO:0000269PubMed:10857751, ECO:0000269PubMed:11799392}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.

Experimentally validated
Total	8 [view]
Protein-Protein	7 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0004386	helicase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0008094	DNA-dependent ATPase activity
GO:0036310	annealing helicase activity

Biological Process

GO:0000733	DNA strand renaturation
GO:0006200	ATP catabolic process
GO:0006259	DNA metabolic process
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0006974	cellular response to DNA damage stimulus
GO:0016568	chromatin modification
GO:0031297	replication fork processing

Cellular Component

GO:0005634	nucleus
GO:0005662	DNA replication factor A complex
GO:0035861	site of double-strand break

Protein Structure and Domains

PDB ID

InterPro

IPR000330 SNF2-related
IPR001650 Helicase, C-terminal
IPR010003 HARP domain
IPR014001 Helicase, superfamily 1/2, ATP-binding domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00176
PF00271
PF07443

PRINTS

PIRSF

SMART

SM00490
SM00487

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9NZC9