CAPNS1 calpain, small subunit 1 [Homo sapiens] - Gene

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Summary

Official Symbol: CAPNS1provided by HGNC
Official Full Name: calpain, small subunit 1provided by HGNC
Primary source: HGNC:1481
See related: Ensembl:ENSG00000126247; HPRD:00240; MIM:114170
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: 30K; CANP; CDPS; CSS1; CANPS; CAPN4; CALPAIN4
Summary: 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]

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Genomic context

Location :: 19q13.12

Sequence :: Chromosome: 19; NC_000019.9 (36630918..36641255)

See CAPNS1 in Epigenomics, MapViewer

Chromosome 19 - NC_000019.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

The expression of both CAPN 1 and CAPNS 1 is increased in transplant kidneys with acute rejection, and increased expression of CAPN 1 alone was observed in kidneys with chronic rejection.
Title: Critical role of the calpain/calpastatin balance in acute allograft rejection.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
The authors conclude that hepatitis B virus X protein upregulate Capn4 through NF-kappaB/p65 to promote migration of hepatoma cells.
Title: Hepatitis B virus X protein upregulates expression of calpain small subunit 1 via nuclear factor-kappaB/p65 in hepatoma cells.
CAPNS1 depletion is coupled to reduced levels of H2AX phosphorylation, not only in Ras(v12) induced BJ-ET fibroblasts, but also in a number of cellular systems upon genotoxic stress
Title: DNA damage response links calpain to cellular senescence.
Genetic variations in LEP, CAPNS1 and ALOX15 show significant association with IL-6 expression.
Title: An integrated expression phenotype mapping approach defines common variants in LEP, ALOX15 and CAPNS1 associated with induction of IL-6.
RasGAP and Capns1 interaction in oncogenic Ras cells is involved in regulating migration and cell survival.
Title: Capns1, a new binding partner of RasGAP-SH3 domain in K-Ras(V12) oncogenic cells: modulation of cell survival and migration.
c-Myc regulates calpain activity through calpastatin; apoptosis induced by calpain inhibition is dependent on c-Myc, and calpastatin knockdown promotes transformation in c-Myc-negative cells
Title: Regulation of calpain activity by c-Myc through calpastatin and promotion of transformation in c-Myc-negative cells by calpastatin suppression.
results reveal that especially NRF-1, along with AP-1 and, to a minor extent, an Sp1 site, is essential for human CAPNS1 promoter activity and gene expression
Title: NRF-1, and AP-1 regulate the promoter of the human calpain small subunit 1 (CAPNS1) gene.
calpain-mediated XIAP degradation contributes to initiation of apoptosis in normal neutrophils and dysfunction of this regulatory pathway can lead to pathological neutrophil accumulation.
Title: Calpain-mediated X-linked inhibitor of apoptosis degradation in neutrophil apoptosis and its impairment in chronic neutrophilic leukemia.

Submit: New GeneRIF Correction See all (11)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_001740.1	NP_005177.2	CAPN1	BIND	PubMed	CAPN1 interacts with CAPNS1.
P04632	Q15052	ARHGEF6	HPRD	PubMed
P04632	P36575	ARR3	HPRD	PubMed
P04632	P56134	ATP5J2	HPRD	PubMed
P04632	P07384	CAPN1	HPRD	PubMed
P04632	P17655	CAPN2	HPRD	PubMed
P04632	P20810	CAST	HPRD	PubMed
P04632	P11802	CDK4	HPRD	PubMed
P04632	Q9Y295	DRG1	HPRD	PubMed
P04632	Q7L5D6	GET4	HPRD	PubMed
P04632	P62879	GNB2	HPRD	PubMed
P04632	P31785	IL2RG	HPRD	PubMed
P04632	Leucine rich repeat and coiled-coil domain containing 1	LRRCC1	HPRD	PubMed
P04632	P62820	RAB1A	HPRD	PubMed
P04632	P54274	TERF1	HPRD	PubMed
BioGRID:107276	BioGRID:106900	ARR3	BioGRID	PubMed	Two-hybrid
BioGRID:107276	BioGRID:114923	ATP5J2	BioGRID	PubMed	Two-hybrid
BioGRID:107276	BioGRID:107274	CAPN2	BioGRID	PubMed	Co-crystal Structure
BioGRID:107276	BioGRID:107454	CDK4	BioGRID	PubMed	Two-hybrid
BioGRID:107276	BioGRID:110810	DRG1	BioGRID	PubMed	Two-hybrid
BioGRID:107276	BioGRID:119636	GET4	BioGRID	PubMed	Two-hybrid
BioGRID:107276	BioGRID:109045	GNB2	BioGRID	PubMed	Two-hybrid
BioGRID:107276	BioGRID:109776	IL2RG	BioGRID	PubMed	Two-hybrid
BioGRID:107276	BioGRID:121122	MEPCE	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107276	BioGRID:111456	POU5F1	BioGRID	PubMed	Affinity Capture-RNA
BioGRID:107276	BioGRID:111799	RAB1A	BioGRID	PubMed	Two-hybrid
BioGRID:107276	BioGRID:114166	RUVBL1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107276	BioGRID:112872	TERF1	BioGRID	PubMed	Two-hybrid
BioGRID:107276	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
calcium ion binding	IEA Inferred from Electronic Annotation more info
calcium-dependent cysteine-type endopeptidase activity	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein heterodimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
metabolic process	IEA Inferred from Electronic Annotation more info
positive regulation of cell proliferation	TAS Traceable Author Statement more info	PubMed
proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytoplasm	IEA Inferred from Electronic Annotation more info
plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: calpain small subunit 1

Names: calpain small subunit 1; CANP small subunit; calpain regulatory subunit; calpain, small polypeptide; calpain 4, small subunit (30K); calcium-dependent protease, small subunit; calcium-dependent protease small subunit 1; calcium-activated neutral proteinase small subunit

NP_001003962.1

EC 3.4.22.17

NP_001740.1

EC 3.4.22.17

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001003962.1 → NP_001003962.1 calpain small subunit 1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks a segment in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

BC007779, BC011903, BC018931, BC064998, BF822052, BQ898664

Consensus CDS

CCDS12489.1

UniProtKB/Swiss-Prot

P04632

Conserved Domains (2) summary

cd00051
Location:144 – 194
Blast Score: 93

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

pfam13833
Location:111 – 168
Blast Score: 77

EF_hand_6; EF-hand domain pair
NM_001749.2 → NP_001740.1 calpain small subunit 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

BC007779, BC011903, BC018931, BC064998, BF822052, BQ898664

Consensus CDS

CCDS12489.1

UniProtKB/Swiss-Prot

P04632

Related

ENSP00000246533, ENST00000246533

Conserved Domains (2) summary

cd00051
Location:144 – 194
Blast Score: 93

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

pfam13833
Location:111 – 168
Blast Score: 77

EF_hand_6; EF-hand domain pair

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000019.9 Reference GRCh37.p5 Primary Assembly

Range

36630918..36641255

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000151.1 Alternate HuRef

Range

33136390..33146727

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC002984.1	AAB81546.1
genomic	AD001527.1	AAB51183.1
genomic	AY789642.1	AAV40829.1
genomic	M31501.1	None
genomic	M31511.1	AAA35646.1
genomic	X64180.1	None
genomic	X64190.1	None
mRNA	AK289606.1	BAF82295.1
mRNA	AY007141.1	None
mRNA	BC000592.2	AAH00592.1
mRNA	BC007779.2	AAH07779.1
mRNA	BC011903.2	AAH11903.1
mRNA	BC017308.2	AAH17308.1
mRNA	BC018931.2	AAH18931.1
mRNA	BC021933.1	AAH21933.1
mRNA	BC023643.2	AAH23643.1
mRNA	BC064998.1	AAH64998.1
mRNA	BF822052.1	None
mRNA	BQ898664.1	None
mRNA	BT009775.1	AAP88777.1
mRNA	X04106.1	CAA27726.1