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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CAPNS1 Gene

protein-coding GIFtS: 57
GCID: GC19P036630

calpain, small subunit 1

(Previous symbol: CAPN4)

Explore 15 diseases affiliated with
CAPNS1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Calpain, Small Subunit 1¹ ²		CSS1² ³
CAPN4¹ ² ³ ⁵		CANP Small Subunit² ³
CDPS¹ ² ³		CALPAIN4²
30K¹ ²		Calcium-Dependent Protease, Small Subunit²
CANP¹ ²		Calpain 4, Small Subunit (30K)²
CANPS¹ ²		Calpain Small Subunit 1²
Calcium-Activated Neutral Proteinase Small Subunit² ³		Calpain, Small Polypeptide²
Calcium-Dependent Protease Small Subunit 1² ³		CAPNS³
Calpain Regulatory Subunit² ³		Calcium-Dependent Protease Small Subunit³

External Ids:	HGNC: 1481¹	Entrez Gene: 826²	Ensembl: ENSG00000126247⁷	OMIM: 114170⁵	UniProtKB: P04632³

Export aliases for CAPNS1 gene to outside databases

Previous GC identifers: GC19P037270 GC19P037079 GC19P041306 GC19P041322 GC19P033136

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CAPNS1:

Calpains are a ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. Calpain families have been

implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative

stress. Calpain I and II are heterodimeric with distinct large subunits associated with common small subunits, all of

which are encoded by different genes. This gene encodes a small subunit common to both calpain I and II and is

associated with myotonic dystrophy. Two transcript variants encoding the same protein have been identified for this

gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CPNS1_HUMAN, P04632

Function: Regulatory subunit of the calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis

of substrates involved in cytoskeletal remodeling and signal transduction

summary for CAPNS1:

Calpains are a group of calcium-sensitive cysteine proteases that are ubiquitously expressed in mammals.

This family contains 14 members with mu-calpain (calpain 1) and m-calpain (calpain 2) being the most

well-characterized. Structurally, calpains contain two subunits; an 80 kDa catalytic subunit and a 28 kDa

regulatory subunit that functions as a chaperone to stabilize the 80 kDa structure. Calpains are regulated

by Ca2+ concentration, phosphorylation, calpastatin and probably by altering their subcellular localization

(limiting access to substrate). These endopeptidases have numerous functions including, but not limited to,

remodeling of cytoskeletal attachments to the plasma membrane during cell fusion and cell motility,

proteolytic modification of molecules in signal transduction pathways, degradation of enzymes controlling

progression through the cell cycle, regulation of gene expression, substrate degradation in some apoptotic

pathways, and an involvement in long-term potentiation. Perturbations in calpain activity have been

associated in pathophysiological processes contributing to type II diabetes (calpain 10), Alzheimer's

disease (calpain 1), gastric cancer (calpain 9) and muscular dystrophy (calpain 3).

Gene Wiki entry for CAPNS1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000019.9 NC_018930.1 NT_011109.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CAPNS1 gene promoter:
SRF CREB AML1a SRF (504 AA) deltaCREB Pax-2 Pax-2a LCR-F1 GATA-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CAPNS1 promoter sequence

Search SABiosciences Chromatin IP Primers for CAPNS1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CAPNS1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.12 Ensembl cytogenetic band: 19q13.12 HGNC cytogenetic band: 19q13.1

CAPNS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CAPNS1 gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19P036630: view genomic region (about GC identifiers)

Start:	36,630,477 bp from pter	End:	36,641,255 bp from pter
Size:	10,779 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CPNS1_HUMAN, P04632 (See protein sequence)

Recommended Name: Calpain small subunit 1

Size: 268 amino acids; 28316 Da

Cofactor: Calcium (By similarity)

Subunit: Homodimer or heterodimer of a large (catalytic) and a small (regulatory) subunit. In presence of calcium, the

heterodimer dissociates (By similarity)

Subcellular location: Cytoplasm (By similarity). Cell membrane (By similarity). Note=Translocates to the plasma

membrane upon calcium binding (By similarity)

2 PDB 3D structures from and Proteopedia for CAPNS1:

1KFU (3D)

1KFX (3D)

Secondary accessions: A8K0P1 Q8WTX3 Q96EW0

Explore the universe of human proteins at neXtProt for CAPNS1: NX_P04632

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P04632

CAPNS1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001003962.1 NP_001740.1

ENSEMBL proteins:

ENSP00000246533 ENSP00000466601 ENSP00000468041 ENSP00000468591 ENSP00000465575

ENSP00000464849 ENSP00000466386 ENSP00000466113 ENSP00000464903 ENSP00000468596

ENSP00000467265 ENSP00000465407

Human Recombinant Protein Products for CAPNS1:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Proteins (see all 2): CAPNS1 OriGene Protein Over-expression Lysate: CAPNS1 OriGene Custom Protein Services for CAPNS1
	GenScript Custom Purified and Recombinant Proteins Services for CAPNS1
	Novus Biologicals CAPNS1 Proteins Novus Biologicals CAPNS1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CAPNS1

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--
GO:0005886	plasma membrane	IEA	--

CAPNS1 for ontologies About GeneDecksing

CAPNS1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of CAPNS1
	Browse R&D Systems for Antibodies
	OriGene Antibodies (see all 2): CAPNS1 OriGene Custom Antibody Services for CAPNS1
	GenScript Custom Superior Antibodies Services for CAPNS1
	Novus Biologicals CAPNS1 Antibodies
	Abcam antibodies for CAPNS1
	Uscn Antibodies for CAPNS1
	ThermoFisher Antibody for CAPNS1

Assay Products for CAPNS1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for CAPNS1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for CAPNS1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CAPNS1 for domains About GeneDecksing

3 InterPro domains/families:

IPR011992 EF-hand-like_dom

IPR002048 EF_hand_Ca-bd

IPR018247 EF_Hand_1_Ca_BS

Graphical View of Domain Structure for InterPro Entry P04632

ProtoNet protein and cluster: P04632

UniProtKB/Swiss-Prot: CPNS1_HUMAN, P04632

Domain: The contact of the 5th EF-hand domain from each monomer allows the formation of the homodimer and also appears

to mediate the contact between the large catalytic subunit and small regulatory subunit for the formation of the

heterodimer (By similarity)

Domain: EF-hand domains are paired. EF-hand 1 is paired with EF-hand 2 and EF-hand 3 is paired with EF-hand 4. The

fifth EF-hand domain, left unpaired, does not bind the calcium but is responsible of the dimerization by EF-embrace.

The first four EF-hand domains bind calcium, however it is not sure if the binding of EF-hand 4 to calcium is

physiologically relevant

Similarity: Contains 5 EF-hand domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: CPNS1_HUMAN, P04632

Function: Regulatory subunit of the calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis

of substrates involved in cytoskeletal remodeling and signal transduction

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004198	calcium-dependent cysteine-type endopeptidase activity	IEA	--
GO:0005509	calcium ion binding	IEA	--
GO:0005515	protein binding	IPI	10639123
GO:0046982	protein heterodimerization activity	--	--

CAPNS1 for ontologies About GeneDecksing

Phenotypes:
8 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Capns1):

cardiovascular system	cellular	embryogenesis	hematopoietic system	homeostasis/metabolism
mortality/aging	muscle	respiratory system

CAPNS1 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for CAPNS1: Capns1^tm1Ujz Capns1^tm1Pag Capns1^tm2.1Pag

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CAPNS1

miRNA Products:		OriGene 3'-UTR Clone (see all 2): CAPNS1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CAPNS1
		6 QIAGEN miScript miRNA Assays for microRNAs that regulate CAPNS1:
		hsa-miR-30c-2* hsa-miR-124 hsa-miR-30c-1* hsa-miR-506 hsa-miR-1271 hsa-miR-96
		SwitchGear 3'UTR luciferase reporter plasmid: CAPNS1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CAPNS1 (see all 7) OriGene shRNA RFP: CAPNS1 OriGene siRNA: CAPNS1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CAPNS1
		Sirion Biotech Custom design and validation of potent shRNA sequences against CAPNS1

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for CAPNS1
			Sirion Biotech Customized adenovirus for overexpression of CAPNS1 Sirion Biotech Customized adenovirus for potent knockdown of CAPNS1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CAPNS1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CAPNS1 (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): CAPNS1 (NM_001003962)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CAPNS1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CAPNS1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CAPNS1
		Search LifeMap BioReagents cell lines for CAPNS1
		Sirion Biotech Customized stable knockdown cell line services for CAPNS1 Sirion Biotech Customized inducible knockdown cell line services for CAPNS1 Sirion Biotech Customized stable overexpressing cell line services for CAPNS1 Sirion Biotech Customized inducible overexpressing cell line services for CAPNS1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAPNS1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

DREAM Repression and Dynorphin Expression

	nNOS Signaling in Skeletal Muscle	0.37			Calpain Protease Regulates Cellular Mechanics	0.22
	Caspase Cascade	0.24

Apoptosis Modulation and Signaling

Apoptosis Modulation and Signaling

1.00

Integrin Pathway

FAK1 Signaling

0.67

Rho Family GTPases

ERK Signaling

0.61

Focal Adhesion

Integrin-mediated cell adhesion

0.38

5 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CAPNS1

	Caspase Cascade
	ERK Signaling
	Calpain Protease Regulates Cellular Mechanics
	FAK1 Signaling
	nNOS Signaling in Skeletal Muscle

2 BioSystems Pathways for CAPNS1

	Apoptosis Modulation and Signaling
	Integrin-mediated cell adhesion

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CAPNS1

STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

5/35 Interacting proteins for CAPNS1 (P04632^{1, 2, 3} ENSP00000246533⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 35)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CAPN1	P07384²^,³, ENSP00000279247⁴	MINT-7234481 MINT-7234562 MINT-7234580 I2D: score=3 STRING: ENSP00000279247
RASA1	P20936²^,³, ENSP00000274376⁴	MINT-7304956 MINT-7304983 MINT-7304902 I2D: score=1 STRING: ENSP00000274376
ATP5J2	P56134²^,³, ENSP00000292475⁴	MINT-63892 I2D: score=5 STRING: ENSP00000292475
DRG1	Q9Y295²^,³, ENSP00000329715⁴	MINT-65798 I2D: score=5 STRING: ENSP00000329715
GET4	Q7L5D6²^,³	MINT-65700 I2D: score=5

About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006508	proteolysis	--	--
GO:0008284	positive regulation of cell proliferation	TAS	8702541

CAPNS1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CAPNS1 for compounds About GeneDecksing

EMD Millipore small molecules for CAPNS1:
Small Molecule - inhibitor

Browse drugs & compounds from Enzo Life Sciences

Compounds for CAPNS1 available from Tocris Bioscience About this table

Compound	Action	CAS #
Calpeptin	Calpain and cathepsin L inhibitor	[117591-20-5]
Acetyl-Calpastatin (184-210) (human)	Selective calpain inhibitor	[123714-50-1]
MDL 28170	Potent, selective calpain and cathepsin B inhibitor	[88191-84-8]
MG 132	Proteasome and calpain inhibitor. Inhibits NF-kappaB activation	[133407-82-6]
MG 101	Calpain inhibitor; activates p53-dependent apoptosis	[110044-82-1]

1 HMDB Compound for CAPNS1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

1 DrugBank Compound for CAPNS1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
PD150606	--	--	target	--	10592235

5 Novoseek chemical compound relationships for CAPNS1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
calpeptin	76.5	1	12851726 (1)
leupeptin	51.8	1	2115174 (1)
cysteine	30.5	4	11943592 (1), 7847693 (1), 2115174 (1)
calcium	29	18	9605476 (2), 2351746 (1), 2156356 (1), 10360947 (1) (see all 10)
serine	0	2	2115174 (1), 12469182 (1)

Search CenterWatch for drugs/clinical trials and news about CAPNS1 / CPNS1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CAPNS1 gene (2 alternative transcripts):

NM_001003962.1 NM_001749.2

Unigene Cluster for CAPNS1:

Calpain, small subunit 1

Hs.515371 [show with all ESTs]

Unigene Representative Sequence: BC011903

15 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000246533(uc002odi.1 uc002odk.3 uc002odj.3 uc002odl.3)

ENST00000589146 ENST00000587718 ENST00000592483 ENST00000590874 ENST00000588815

ENST00000591041 ENST00000588780 ENST00000590049 ENST00000586851 ENST00000590211

ENST00000592354 ENST00000586963 ENST00000588546 ENST00000589162

miRNA Products:		OriGene 3'-UTR Clone (see all 2): CAPNS1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CAPNS1
		6 QIAGEN miScript miRNA Assays for microRNAs that regulate CAPNS1:
		hsa-miR-30c-2* hsa-miR-124 hsa-miR-30c-1* hsa-miR-506 hsa-miR-1271 hsa-miR-96
		SwitchGear 3'UTR luciferase reporter plasmid: CAPNS1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CAPNS1 (see all 7) OriGene shRNA RFP: CAPNS1 OriGene siRNA: CAPNS1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CAPNS1
		Sirion Biotech Custom design and validation of potent shRNA sequences against CAPNS1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CAPNS1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CAPNS1 (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): CAPNS1 (NM_001003962)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CAPNS1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CAPNS1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CAPNS1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat CAPNS1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CAPNS1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CAPNS1

Additional cDNA sequence:

AK289606.1 AY007141.1 BC000592.2 BC007779.2 BC011903.2 BC017308.2 BC018931.2 BC021933.1

BC023643.2 BC064998.1 BT009775.1 X04106.1

24/37 DOTS entries (see all 37):

DT.85103663 DT.100670778 DT.101987068 DT.121499682 DT.100670775 DT.95193989 DT.91960890 DT.95194082

DT.121499709 DT.92463918 DT.95193981 DT.121499694 DT.100670777 DT.100864254 DT.92463902 DT.100034963

DT.100642817 DT.100670784 DT.95193987 DT.100670779 DT.100670780 DT.100670783 DT.100867886 DT.101987526

24/1083 AceView cDNA sequences (see all 1083):

CR591634 CR612316 BC023643 AI432651 BQ217327 AI291874 BC017308 H80441

NM_001749 BM662298 BQ478226 AA640147 AI765828 BF725976 CR590756 CR601153

CB157615 BU166111 CF127623 BM905752 BQ672528 CN484108 BC000592 CR625596

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CAPNS1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCCCAGTTGC

About this image

CAPNS1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

6 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Cartilage

Lumbar Intervertebral Disc

Intervertebral Disc Nucleus Pulposus Cells

Cartilage

Spinal Cord

Spinal Ventral Columns

Ventral Spinal Cord Progenitor Cells

Motor Neurons

Brain

Neural Tube

Primitive Streak

Spinal Ventral Columns

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CAPNS1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CAPNS1

SOURCE GeneReport for Unigene cluster: Hs.515371

SABiosciences Expression via Pathway-Focused PCR Arrays including CAPNS1:

Nitric Oxide Signaling Pathway in human mouse rat

Necrosis in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CAPNS1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat CAPNS1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CAPNS1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CAPNS1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAPNS1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for CAPNS1 gene from 3/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	CAPNS1⁶	--	81(a)	1 ↔ 1	GL343635.1(79657-89735)
African clawed frog (Xenopus laevis)	Amphibia	Xl.23845²	Xenopus laevis transcribed sequence with moderate similarity more	74.27(n)		BQ731366.1
zebrafish (Danio rerio)	Actinopterygii	capns1²	calpain, small subunit 1	73.64(n)		317736 BC054926.1

ENSEMBL Gene Tree for CAPNS1 (if available)
TreeFam Gene Tree for CAPNS1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CAPNS1 gene

PDCD6² CAPNS2² PEF1² SRI² GCA²

12 SIMAP similar genes for CAPNS1 using alignment to 10 protein entries: CPNS1_HUMAN (see all proteins):

CAPNS2 CAPN3 CAPN1 CAPN11 CAPN2 CAPN9

CAPN13 CAPN14 CAPN8 SRI PDCD6 GCA

CAPNS1 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for CAPNS1
PGOHUM00000244788

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs182404967^1,2		--	36628919(+)	`ATTTAC/TTTATT`	2	--	us2k¹		0	--	--	--	--
rs185939874^1,2		--	36628930(+)	`GGAGAC/GGGAGT`	2	--	us2k¹		0	--	--	--	--
rs190601942^1,2		--	36629034(+)	`CTCCCA/GAGTAG`	2	--	us2k¹		0	--	--	--	--
rs142663754^1,2		--	36629062(+)	`CACCAC/TCACAT`	2	--	us2k¹		0	--	--	--	--
rs2091825^1,2	C,F,A	--	36629101(+)	`ACAGGT/GTTTCT`	2	--	us2k¹		7		NA WA CSA	13
rs56909282^1,2		--	36629129(+)	`GTCTCC/GAACTC`	2	--	us2k¹		0	--	--	--	--
rs183373564^1,2	C	--	36629132(+)	`TCGAAC/TTCCCG`	2	--	us2k¹		0	--	--	--	--
rs189227146^1,2		--	36629137(+)	`CTCCCA/GACCTC`	2	--	us2k¹		0	--	--	--	--
rs79995342^1,2	C	--	36629385(+)	`GAGACA/GAGGTC`	2	--	us2k¹		3		NA EA	242
rs201837813^1,2		--	36629505(+)	`TTAAG-/TTTTTT`	2	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CAPNS1 (36630477 - 36641255 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CAPNS1: --

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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CAPNS1 for disorders           About GeneDecksing

OMIM gene information: 114170    OMIM disorders: --

15 diseases for CAPNS1:    About MalaCards

myotonic dystrophy muscular dystrophy limb-girdle muscular dystrophy gastric cancer

alzheimer's disease chronic neutrophilic leukemia chickenpox hepatitis b

hepatocellular carcinoma leukemia neuropathy lung cancer

hepatitis carcinoma neuronitis

3 Novoseek disease relationships for CAPNS1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
leukemia t-cell	38.4	1	7663378 (1)
tumors	2.58	3	12569370 (2), 12851726 (1)
leukemia	0	1	7663378 (1)

Human Genome Epidemiology (HuGE) Navigator: CAPNS1 (3 documents)

Export disorders for CAPNS1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for CAPNS1 gene, integrated from 9 sources (see all 81):
(articles sorted by number of sources associating them with CAPNS1)

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Gene organization of the small subunit of human calcium-activated neutral protease. (PubMed id 3024120)^{1, 2, 3} Miyake S.... Suzuki K. (1986)
Nucleotide sequence of a cDNA coding for the small subunit of human calcium-dependent protease. (PubMed id 3016651)^{1, 2, 3} Ohno S.... Suzuki K. (1986)
The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)^{1, 2} Grimwood J.... Lucas S.M. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
The crystal structure of calcium-free human m-calpain suggests an electrostatic switch mechanism for activation by calcium. (PubMed id 10639123)^{1, 2} Strobl S.... Bode W. (2000)
NRF-1, and AP-1 regulate the promoter of the human calpain small subunit 1 (CAPNS1) gene. (PubMed id 18234454)^{1, 9} Asangani I.A....Allgayer H. (2008)
Hepatitis B virus X protein upregulates expression of calpain small subunit 1 via nuclear factor-kappaB/p65 in hepatoma cells. (PubMed id 20419804)^{1, 9} Zhang F....Zhang X. (2010)
An integrated expression phenotype mapping approach d efines common variants in LEP, ALOX15 and CAPNS1 associated with induction of I L-6. (PubMed id 19942621)^{1, 9} Fairfax B.P....Knight J.C. (2010)
The major calpain isozymes are long-lived proteins. Design of an antisense strategy for calpain depletion in cultured cells. (PubMed id 8702541)^{1, 9} Zhang W....Mellgren R.L. (1996)
Four genes for the calpain family locate on four distinct human chromosomes. (PubMed id 2209092)^{1, 9} Ohno S....Suzuki K. (1990)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 826	HGNC: 1481	AceView: CAPNS1	Ensembl:ENSG00000126247	euGenes: HUgn826
ECgene: CAPNS1	H-InvDB: CAPNS1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for CAPNS1	Pharmacogenomics, SNPs, Pathways
CaBP	http://structbio.vanderbilt.edu/cabp_database/general/prot_pages/calpain.html
Calpains homepage	http://ag.arizona.edu/calpains/
NIEHS-SNPs	http://egp.gs.washington.edu/data/capns1/

Intellectual Property for CAPNS1 gene
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Patent Information for CAPNS1 gene:
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GeneCards and IP:
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calpain, small subunit 1

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CAPNS1 Gene

calpain, small subunit 1

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