Expression of SMARCAL1 in cancer - Summary - The Human Protein Atlas

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SMARCAL1

TISSUE

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CELL

PATHOLOGY

PATHOLOGY ATLAS

GENE/PROTEIN

Antibody validation

Dictionary


Level of antibody staining/expression
	High Medium Low Not detected

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 category

TCGA (cancer tissue):	Expressed in all
HPA (cell line):	Expressed in all
HPA (normal tissue):	Expressed in all

Protein evidence

Evidence at protein level

Protein expression
normal tissue

Nuclear expression in several different tissue types.

ANTIBODY IHC 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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PROGNOSTIC SUMMARY
Prognostic marker in liver cancer (unfavourable).
Liver cancer p<0.001 Show all

RNA EXPRESSION OVERVIEW
TCGA dataset RNA cancer category: Expressed in all

PROTEIN EXPRESSION

Colorectal cancer

Prostate cancer

STAINING SUMMARY

HPA020337

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 Show all	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 Show all	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 Show all	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

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