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CAPN10 calpain 10 [ Homo sapiens (human) ]

Gene ID: 11132, updated on 15-Dec-2018

Summary

Official Symbol
CAPN10provided by HGNC
Official Full Name
calpain 10provided by HGNC
Primary source
HGNC:HGNC:1477
See related
Ensembl:ENSG00000142330 MIM:605286
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
CANP10; NIDDM1
Summary
Calpains represent a ubiquitous, well-conserved family of calcium-dependent cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large catalytic subunit has four domains: domain I, the N-terminal regulatory domain that is processed upon calpain activation; domain II, the protease domain; domain III, a linker domain of unknown function; and domain IV, the calmodulin-like calcium-binding domain. This gene encodes a large subunit. It is an atypical calpain in that it lacks the calmodulin-like calcium-binding domain and instead has a divergent C-terminal domain. It is similar in organization to calpains 5 and 6. This gene is associated with type 2 or non-insulin-dependent diabetes mellitus (NIDDM), and is located within the NIDDM1 region. Multiple alternative transcript variants have been described for this gene. [provided by RefSeq, Sep 2010]
Expression
Ubiquitous expression in spleen (RPKM 8.4), testis (RPKM 6.6) and 25 other tissues See more
Orthologs

Genomic context

See CAPN10 in Genome Data Viewer
Location:
2q37.3
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (240586716..240599109)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (241526133..241538526)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene arginyl aminopeptidase like 1 Neighboring gene CAPN10 divergent transcript Neighboring gene G protein-coupled receptor 35 Neighboring gene galactose-3-O-sulfotransferase 1 pseudogene

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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...
  • 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...
  • 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 ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: GPR35

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SNARE binding ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium-dependent cysteine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium-dependent cysteine-type endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytoskeletal protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
actin cytoskeleton reorganization ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cellular component disassembly involved in execution phase of apoptosis IC
Inferred by Curator
more info
 
cellular response to insulin stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of glucose import IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of insulin secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of intracellular transport ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of type B pancreatic cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proteolysis IMP
Inferred from Mutant Phenotype
more info
PubMed 
type B pancreatic cell apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
calpain-10
Names
calcium-activated neutral proteinase 10
calpain-like protease CAPN10
NP_075573.2

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.

Genomic

  1. NG_011558.2 RefSeqGene

    Range
    5001..17394
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_023083.4NP_075571.2  calpain-10 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as CAPN10a) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC124862
    Consensus CDS
    CCDS42838.1
    Related
    ENSP00000375844.2, ENST00000391984.6
    Conserved Domains (2) summary
    cd00044
    Location:2319
    CysPc; Calpains, domains IIa, IIb; calcium-dependent cytoplasmic cysteine proteinases, papain-like. Functions in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction.
    cd00214
    Location:335496
    Calpain_III; Calpain, subdomain III. Calpains are calcium-activated cytoplasmic cysteine proteinases, participate in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction. Catalytic domain and the two calmodulin-like domains are ...
  2. NM_023085.3NP_075573.2  calpain-10 isoform c

    See identical proteins and their annotated locations for NP_075573.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3, also known as CAPN10c) lacks two consecutive exons, resulting in the loss of an in-frame segment in the 3' coding region, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
    Source sequence(s)
    AF089091, AK074807, AL558905, AU310002, BQ052841, BQ962770, DA413480
    Consensus CDS
    CCDS33420.1
    UniProtKB/Swiss-Prot
    Q9HC96
    Related
    ENSP00000270362.6, ENST00000354082.8
    Conserved Domains (2) summary
    cd00044
    Location:2319
    CysPc; Calpains, domains IIa, IIb; calcium-dependent cytoplasmic cysteine proteinases, papain-like. Functions in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction.
    cd00214
    Location:335498
    Calpain_III; Calpain, subdomain III. Calpains are calcium-activated cytoplasmic cysteine proteinases, participate in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction. Catalytic domain and the two calmodulin-like domains are ...

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.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    240586716..240599109
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_021251.3: Suppressed sequence

    Description
    NM_021251.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  2. NM_023084.1: Suppressed sequence

    Description
    NM_023084.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
  3. NM_023086.1: Suppressed sequence

    Description
    NM_023086.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
  4. NM_023087.1: Suppressed sequence

    Description
    NM_023087.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
  5. NM_023088.1: Suppressed sequence

    Description
    NM_023088.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
  6. NM_023089.1: Suppressed sequence

    Description
    NM_023089.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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