SMARCAL1
Sign in to saveAlso known as HARP, HHARP, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 is a protein that in humans is encoded by the SMARCAL1 gene.
Gene data
SMARCAL1- Name
- SNF2 related chromatin remodeling annealing helicase 1
- Type
- protein-coding
- Position
- 216,412,383–216,483,056 (+)
- Aliases
- HARP, HHARP
- Ensembl
- ENSG00000138375
- RefSeq RNA
- NM_001127207.2, NM_014140.4
- RefSeq protein
- NP_001120679.1, NP_054859.2
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].
Gene Ontology
Biological process
Molecular function
via MyGene.info
Gene · Ensembl
SNF2 related chromatin remodeling annealing helicase 1
- Symbol
- SMARCAL1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 2:216,412,383-216,483,056
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
~1 min read
Encyclopedic overview
4 sectionsContents
- Function
- References
- Further reading
- External links
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 is a protein that in humans is encoded by the SMARCAL1 gene.
== Function ==
Excerpted from Wikipedia’s “SMARCAL1” article, available under the CC BY-SA 4.0 licence.