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SMARCAL1

GENERAL INFORMATION

Gene name

 SMARCAL1

Gene description

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

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 10
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Nuclear expression in several different tissue types.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data. Pending external verification.

Reliability score

 Uncertain based on 1 antibody.
HPA020337
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

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

Cytoband

 q35

Chromosome location (bp)

 216412414 - 216483053

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000138375 (version 83.38)

Entrez gene

 50485

UniProt

 Q9NZC9 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9NZC9

Antibodypedia

 SMARCAL1 antibodies

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

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
SMARCAL1-001
ENSP00000349823
ENST00000357276
Q9NZC9 [Direct mapping]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1
Show all
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000733 [DNA strand renaturation]
GO:0004386 [helicase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005662 [DNA replication factor A complex]
GO:0006259 [DNA metabolic process]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0008094 [DNA-dependent ATPase activity]
GO:0031297 [replication fork processing]
GO:0035861 [site of double-strand break]
GO:0036310 [annealing helicase activity]
Show all
 954 aa
105.9 kDa 		No 0
SMARCAL1-002
ENSP00000375974
ENST00000392128
H7BYI2 [Direct mapping]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1
Show all
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005524 [ATP binding]
GO:0005654 [nucleoplasm]
Show all
 796 aa
88.4 kDa 		No 0
SMARCAL1-003
ENSP00000350940
ENST00000358207
Q9NZC9 [Direct mapping]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1
Show all
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000733 [DNA strand renaturation]
GO:0004386 [helicase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005662 [DNA replication factor A complex]
GO:0006259 [DNA metabolic process]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0008094 [DNA-dependent ATPase activity]
GO:0031297 [replication fork processing]
GO:0035861 [site of double-strand break]
GO:0036310 [annealing helicase activity]
Show all
 954 aa
105.9 kDa 		No 0
SMARCAL1-004
ENSP00000405077
ENST00000430374
C9J6I8 [Direct mapping]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 146 aa
16.1 kDa 		No 0
SMARCAL1-005
ENSP00000394410
ENST00000425815
C9JS37 [Direct mapping]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 19 aa
2.4 kDa 		No 0
SMARCAL1-006
ENSP00000398969
ENST00000444508
C9J8F8 [Direct mapping]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 130 aa
14.3 kDa 		No 0
SMARCAL1-007
ENSP00000402967
ENST00000434435
C9JP32 [Direct mapping]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 92 aa
10.3 kDa 		No 0
SMARCAL1-009
ENSP00000390248
ENST00000412913
C9JHQ1 [Direct mapping]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 141 aa
15.6 kDa 		No 0
SMARCAL1-010
ENSP00000392997
ENST00000427645
H7C051 [Direct mapping]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005654 [nucleoplasm]
Show all
 326 aa
35.3 kDa 		No 0
SMARCAL1-012
ENSP00000400473
ENST00000445153
H7C1I3 [Direct mapping]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1
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   SCAMPI predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005524 [ATP binding]
Show all
 162 aa
18.1 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.