CAPNS1 calpain small subunit 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CAPNS1provided by HGNC
Official Full Name: calpain small subunit 1provided by HGNC
Primary source: HGNC:HGNC:1481
See related: Ensembl:ENSG00000126247 MIM:114170; AllianceGenome:HGNC:1481
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: CANP; CDPS; CSS1; PPH6; CANPS; CAPN4; CALPAIN4
Summary: This gene is a member of the calpain small subunit family. Calpains are calcium-dependent cysteine proteinases that are widely distributed in mammalian cells. Calpains operate as heterodimers, comprising a specific large catalytic subunit (calpain 1 subunit in Calpain I, and calpain 2 subunit in Calpain II), and a common small regulatory subunit encoded by this gene. This encoded protein is essential for the stability and function of both calpain heterodimers, whose proteolytic activities influence various cellular functions including apoptosis, proliferation, migration, adhesion, and autophagy. Calpains have been implicated in neurodegenerative processes, such as myotonic dystrophy. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Expression: Ubiquitous expression in esophagus (RPKM 128.4), heart (RPKM 97.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.12

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (36140066..36150353)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (38685882..38696171)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (36630968..36641255)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of Crucial Genes and Key Functions in Type 2 Diabetic Hearts by Bioinformatic Analysis.
Title: Identification of Crucial Genes and Key Functions in Type 2 Diabetic Hearts by Bioinformatic Analysis.
Overexpression of Capns1 Predicts Poor Prognosis and Correlates with Tumor Progression in Renal Cell Carcinoma.
Title: Overexpression of Capns1 Predicts Poor Prognosis and Correlates with Tumor Progression in Renal Cell Carcinoma.
Circular RNA ABCB10 promotes cell proliferation and invasion, but inhibits apoptosis via regulating the microRNA1271mediated Capn4/Wnt/betacatenin signaling pathway in epithelial ovarian cancer.
Title: Circular RNA ABCB10 promotes cell proliferation and invasion, but inhibits apoptosis via regulating the microRNA‑1271‑mediated Capn4/Wnt/β‑catenin signaling pathway in epithelial ovarian cancer.
Capn4 contributes to tumor invasion and metastasis in gastric cancer via activation of the Wnt/beta-catenin/MMP9 signalling pathways.
Title: Capn4 contributes to tumor invasion and metastasis in gastric cancer via activation of the Wnt/β-catenin/MMP9 signalling pathways.
Capn4 coordination with LMP1 enhances NPC migration.
Title: Capn4 is induced by and required for Epstein-Barr virus latent membrane protein 1 promotion of nasopharyngeal carcinoma metastasis through ERK/AP-1 signaling.
our results show that enhanced Capn4 expression activates the Wnt/beta-catenin signaling pathway, resulting in increased ZEB1 expression and the promotion of esophageal squamous cell carcinoma (ESCC) cell metastasis.
Title: Capn4 promotes esophageal squamous cell carcinoma metastasis by regulating ZEB1 through the Wnt/β-catenin signaling pathway.
Collectively, these data suggested the tumor suppressive role of miR-337-3p in ccRCC. MiR-337-3p suppressed cell proliferation and metastasis in lear cell renal cell carcinoma partially via targeting Capn4.
Title: MiR-337-3p suppresses the proliferation and metastasis of clear cell renal cell carcinoma cells via modulating Capn4.
Suppression of Capn4 by miR-520b inhibits the growth and invasion of prostate cancer cells associated with downregulated Wnt/beta-catenin signaling.
Title: Capn4 expression is modulated by microRNA-520b and exerts an oncogenic role in prostate cancer cells by promoting Wnt/β-catenin signaling.
Low calpain 4 expression is associated with ovarian cancer.
Title: Calpain system protein expression and activity in ovarian cancer.
that Capn4 promotes cell proliferation by increasing MAPK7 expression
Title: Capn4 promotes colorectal cancer cell proliferation by increasing MAPK7 through activation of the Wnt/β-Catenin pathway.

Submit: New GeneRIF Correction See all GeneRIFs (33)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Pulmonary hypertension, primary, 6 MedGen: CN377269 OMIM: 620777 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D19S640E (e-PCR)
- UniSTS:150563

STS-X04106 (e-PCR)
- UniSTS:50726

D19S1102 (e-PCR)
- UniSTS:58946

CAPNS1 (e-PCR)
- UniSTS:504414

RH69431 (e-PCR)
- UniSTS:64935

G13289 (e-PCR)
- UniSTS:77500

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in positive regulation of cell population proliferation	TAS Traceable Author Statement more info	PubMed
involved_in proteolysis	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of macroautophagy	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of calpain complex	IBA Inferred from Biological aspect of Ancestor more info
part_of calpain complex	IPI Inferred from Physical Interaction more info	PubMed
part_of calpain complex	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: calpain small subunit 1

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

NP_001003962.1

EC 3.4.22.52

NP_001289561.1

EC 3.4.22.52

NP_001289562.1

EC 3.4.22.52

NP_001740.1

EC 3.4.22.52

XP_005259352.1

EC 3.4.22.52

XP_005259353.1

EC 3.4.22.52

XP_011525661.1

EC 3.4.22.52

XP_054178264.1

EC 3.4.22.52

XP_054178265.1

EC 3.4.22.52

XP_054178266.1

EC 3.4.22.52

XP_054178267.1

EC 3.4.22.52

NCBI Reference Sequences (RefSeq)

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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_001003962.3 → NP_001003962.1 calpain small subunit 1 isoform 1

See identical proteins and their annotated locations for NP_001003962.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

AK289606, BC000592, BQ891655

Consensus CDS

CCDS12489.1

UniProtKB/Swiss-Prot

A8K0P1, P04632, Q8WTX3, Q96EW0

UniProtKB/TrEMBL

K7ELJ7

Related

ENSP00000465575.1, ENST00000590874.5

Conserved Domains (2) summary

cd00051
Location:144 → 194

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 ...

cl08302
Location:175 → 230

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 ...
NM_001302632.2 → NP_001289561.1 calpain small subunit 1 isoform 1

See identical proteins and their annotated locations for NP_001289561.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

AD001527, AK289606, BC064998

Consensus CDS

CCDS12489.1

UniProtKB/Swiss-Prot

A8K0P1, P04632, Q8WTX3, Q96EW0

UniProtKB/TrEMBL

K7ELJ7

Related

ENSP00000464849.1, ENST00000588815.5

Conserved Domains (2) summary

cd00051
Location:144 → 194

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 ...

cl08302
Location:175 → 230

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 ...
NM_001302633.2 → NP_001289562.1 calpain small subunit 1 isoform 2

See identical proteins and their annotated locations for NP_001289562.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks two 5' exons and uses an alternate 5' terminal exon which results in the use of a downstream in-frame start codon, compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AD001527, AK289606, BC000592, BQ891655, CN349928, HY003903

UniProtKB/Swiss-Prot

P04632

Conserved Domains (1) summary

cd16188
Location:1 → 156

EFh_PEF_CPNS1_2; Penta-EF hand, calcium binding motifs, found in calcium-dependent protease small subunit CAPNS1 and CAPNS2
NM_001749.4 → NP_001740.1 calpain small subunit 1 isoform 1

See identical proteins and their annotated locations for NP_001740.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

AK289606, BC000592, BQ891655

Consensus CDS

CCDS12489.1

UniProtKB/Swiss-Prot

A8K0P1, P04632, Q8WTX3, Q96EW0

UniProtKB/TrEMBL

K7ELJ7

Related

ENSP00000246533.2, ENST00000246533.8

Conserved Domains (2) summary

cd00051
Location:144 → 194

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 ...

cl08302
Location:175 → 230

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 ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

36140066..36150353

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005259295.2 → XP_005259352.1 calpain small subunit 1 isoform X1

See identical proteins and their annotated locations for XP_005259352.1

UniProtKB/TrEMBL

A0A0C4DGQ5, K7ELJ7

Related

ENSP00000468041.1, ENST00000587718.5

Conserved Domains (1) summary

cd16188
Location:100 → 260

EFh_PEF_CPNS1_2; Penta-EF hand, calcium binding motifs, found in calcium-dependent protease small subunit CAPNS1 and CAPNS2
XM_005259296.2 → XP_005259353.1 calpain small subunit 1 isoform X1

See identical proteins and their annotated locations for XP_005259353.1

UniProtKB/TrEMBL

A0A0C4DGQ5, K7ELJ7

Conserved Domains (1) summary

cd16188
Location:100 → 260

EFh_PEF_CPNS1_2; Penta-EF hand, calcium binding motifs, found in calcium-dependent protease small subunit CAPNS1 and CAPNS2
XM_011527359.2 → XP_011525661.1 calpain small subunit 1 isoform X2

UniProtKB/TrEMBL

K7EIV0

Related

ENSP00000464903.2, ENST00000586851.5

Conserved Domains (2) summary

cd00051
Location:76 → 126

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 ...

cl08302
Location:107 → 162

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 ...

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

38685882..38696171

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054322289.1 → XP_054178264.1 calpain small subunit 1 isoform X1

UniProtKB/TrEMBL

A0A0C4DGQ5
XM_054322290.1 → XP_054178265.1 calpain small subunit 1 isoform X1

UniProtKB/TrEMBL

A0A0C4DGQ5
XM_054322292.1 → XP_054178267.1 calpain small subunit 1 isoform X2
XM_054322291.1 → XP_054178266.1 calpain small subunit 1 isoform X3