Format

Send to:

Choose Destination

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

Gene ID: 826, updated on 11-Sep-2019

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
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; 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

Genomic context

See CAPNS1 in Genome Data Viewer
Location:
19q13.12
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (36140066..36150353)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36630918..36641255)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372385 Neighboring gene tubulin folding cofactor B Neighboring gene cytochrome c oxidase subunit 7A1 Neighboring gene zinc finger protein 565 Neighboring gene zinc finger protein 146 Neighboring gene uncharacterized LOC107985304

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

  • Apoptosis Modulation and Signaling, organism-specific biosystem (from WikiPathways)
    Apoptosis Modulation and Signaling, organism-specific biosystemApoptosis, or cell death program, can be activated by various mechanisms within the extrinsic and the intrinsic pathway. While activation of cell death receptors leads to the engagement of the extrin...
  • Degradation of the extracellular matrix, organism-specific biosystem (from REACTOME)
    Degradation of the extracellular matrix, organism-specific biosystemMatrix metalloproteinases (MMPs), previously referred to as matrixins because of their role in degradation of the extracellular matrix (ECM), are zinc and calcium dependent proteases belonging to the...
  • Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models, organism-specific biosystem (from REACTOME)
    Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models, organism-specific biosystemPost-mitotic neurons do not have an active cell cycle. However, deregulation of Cyclin Dependent Kinase-5 (CDK5) activity in these neurons can aberrantly activate various components of cell cycle lea...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
  • Formation of the cornified envelope, organism-specific biosystem (from REACTOME)
    Formation of the cornified envelope, organism-specific biosystemAs keratinocytes progress towards the upper epidermis, they undergo a unique process of cell death termed cornification (Eckhart et al. 2013). This involves the crosslinking of keratinocyte proteins ...
  • Integrin-mediated Cell Adhesion, organism-specific biosystem (from WikiPathways)
    Integrin-mediated Cell Adhesion, organism-specific biosystemIntegrins are receptors that mediate attachment between a cell and the tissues surrounding it, which may be other cells or the extracellular matrix (ECM). They also play a role in cell signaling and ...
  • Keratinization, organism-specific biosystem (from REACTOME)
    Keratinization, organism-specific biosystemKeratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filamen...
  • Neurodegenerative Diseases, organism-specific biosystem (from REACTOME)
    Neurodegenerative Diseases, organism-specific biosystemNeurodegenerative diseases manifest as the progressive dysfunction and loss of neurons, which is frequently accompanied by formation of misfolded protein deposits in the brain. Classification of neur...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
calcium-dependent cysteine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cornification TAS
Traceable Author Statement
more info
 
extracellular matrix disassembly TAS
Traceable Author Statement
more info
 
positive regulation of cell proliferation TAS
Traceable Author Statement
more info
PubMed 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
regulation of macroautophagy NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

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
NP_001289561.1
NP_001289562.1
NP_001740.1
XP_005259352.1
XP_005259353.1
XP_011525661.1
XP_024307500.1

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)

  1. NM_001003962.3NP_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
    P04632
    Related
    ENSP00000465575.1, ENST00000590874.5
    Conserved Domains (2) summary
    cd00051
    Location:144194
    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:175230
    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 ...
  2. NM_001302632.2NP_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
    P04632
    Related
    ENSP00000464849.1, ENST00000588815.5
    Conserved Domains (2) summary
    cd00051
    Location:144194
    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:175230
    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 ...
  3. NM_001302633.2NP_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
    cl08302
    Location:3282
    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 ...
  4. NM_001749.4NP_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
    P04632
    Related
    ENSP00000246533.2, ENST00000246533.7
    Conserved Domains (2) summary
    cd00051
    Location:144194
    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:175230
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    36140066..36150353
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005259296.1XP_005259353.1  calpain small subunit 1 isoform X1

    See identical proteins and their annotated locations for XP_005259353.1

    UniProtKB/Swiss-Prot
    P04632
    UniProtKB/TrEMBL
    A0A0C4DGQ5
    Conserved Domains (1) summary
    cd16188
    Location:100260
    EFh_PEF_CPNS1_2; Penta-EF hand, calcium binding motifs, found in calcium-dependent protease small subunit CAPNS1 and CAPNS2
  2. XM_005259295.1XP_005259352.1  calpain small subunit 1 isoform X1

    See identical proteins and their annotated locations for XP_005259352.1

    UniProtKB/Swiss-Prot
    P04632
    UniProtKB/TrEMBL
    A0A0C4DGQ5
    Related
    ENSP00000468041.1, ENST00000587718.5
    Conserved Domains (1) summary
    cd16188
    Location:100260
    EFh_PEF_CPNS1_2; Penta-EF hand, calcium binding motifs, found in calcium-dependent protease small subunit CAPNS1 and CAPNS2
  3. XM_011527359.1XP_011525661.1  calpain small subunit 1 isoform X3

    Related
    ENSP00000464903.2, ENST00000586851.5
    Conserved Domains (2) summary
    cd00051
    Location:76126
    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:107162
    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 ...
  4. XM_024451732.1XP_024307500.1  calpain small subunit 1 isoform X2

    Conserved Domains (1) summary
    cd16188
    Location:37205
    EFh_PEF_CPNS1_2; Penta-EF hand, calcium binding motifs, found in calcium-dependent protease small subunit CAPNS1 and CAPNS2
Support Center