SMARCAL1

The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq, Jul 2008]

Description

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

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

2 (216412414 - 216483053)

Ensembl ID

ENSG00000138375  (ver. 103.38)

Orthologs

Mouse Smarcal1: ENSMUSG00000039354

UniProt

Q9NZC9

neXtProt

NX_Q9NZC9

Human splice variants
Mouse splice variants

Protein structure