SMARCAL1

GENE INFORMATION

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Gene name

SMARCAL1 (HGNC Symbol)

Synonyms

HARP, HHARP

Description

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

Entrez gene summary

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]

Chromosome

2 (Chromosome progress)

Cytoband

q35

Chromosome location (bp)

217277137 - 217347776

Ensembl

ENSG00000138375 (version 73.37)

Entrez gene

50485

UniProt

Q9NZC9 (UniProt - Evidence at protein level)

neXtProt

NX_Q9NZC9

Antibodypedia

SMARCAL1 antibodies
 

PROTEIN VIEW

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SMARCAL1-001
 
SMARCAL1-002
 
SMARCAL1-003
 
SMARCAL1-004
 
SMARCAL1-005
 
SMARCAL1-006
 
SMARCAL1-007
 
SMARCAL1-009
 
SMARCAL1-010
 
SMARCAL1-012
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SMARCAL1-001 ENSP00000349823
ENST00000357276
Q9NZC9
Show all »
Show » Show » 954 105.9 No 0
SMARCAL1-002 ENSP00000375974
ENST00000392128
H7BYI2
Show all »
Show » Show » 796 88.4 No 0
SMARCAL1-003 ENSP00000350940
ENST00000358207
Q9NZC9
Show all »
Show » Show » 954 105.9 No 0
SMARCAL1-004 ENSP00000405077
ENST00000430374
C9J6I8
Show all »
Show » 146 16.1 No 0
SMARCAL1-005 ENSP00000394410
ENST00000425815
19 2.4 No 0
SMARCAL1-006 ENSP00000398969
ENST00000444508
C9J8F8
Show all »
Show » 130 14.3 No 0
SMARCAL1-007 ENSP00000402967
ENST00000434435
C9JP32
Show all »
Show » 92 10.3 No 0
SMARCAL1-009 ENSP00000390248
ENST00000412913
C9JHQ1
Show all »
Show » 141 15.6 No 0
SMARCAL1-010 ENSP00000392997
ENST00000427645
H7C051
Show all »
Show » 326 35.3 No 0
SMARCAL1-012 ENSP00000400473
ENST00000445153
Show » Show » 162 18.1 No 0