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CAPN13 calpain 13 [ Homo sapiens (human) ]

Gene ID: 92291, updated on 23-Nov-2021

Summary

Official Symbol
CAPN13provided by HGNC
Official Full Name
calpain 13provided by HGNC
Primary source
HGNC:HGNC:16663
See related
Ensembl:ENSG00000162949 MIM:610228
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012]
Expression
Biased expression in small intestine (RPKM 8.2), duodenum (RPKM 5.3) and 6 other tissues See more
Orthologs
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Genomic context

See CAPN13 in Genome Data Viewer
Location:
2p23.1
Exon count:
28
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (30722771..30809527, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (30945637..31030312, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1936 Neighboring gene lysocardiolipin acyltransferase 1 Neighboring gene uncharacterized LOC105374435 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 14

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?

Phenotypes

Associated conditions

Description Tests
Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23523

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in negative regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
calpain-13
Names
CANP 13
calcium-activated neutral proteinase 13

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)

  1. NM_144575.3NP_653176.2  calpain-13

    See identical proteins and their annotated locations for NP_653176.2

    Status: VALIDATED

    Source sequence(s)
    AC092569, AK074418, BM127691, BX476842, BX640793, BX647678
    Consensus CDS
    CCDS46252.1
    UniProtKB/Swiss-Prot
    Q6MZZ7
    Related
    ENSP00000295055.8, ENST00000295055.12
    Conserved Domains (3) summary
    cd16195
    Location:501669
    EFh_PEF_CAPN13_14; Penta-EF hand, calcium binding motifs, found in calpain-13 (CAPN13), calpain-14 (CAPN14), and similar proteins
    pfam00648
    Location:35331
    Peptidase_C2; Calpain family cysteine protease
    cl00165
    Location:347474
    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 Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    30722771..30809527 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017005264.1XP_016860753.1  calpain-13 isoform X1

    UniProtKB/Swiss-Prot
    Q6MZZ7
    Conserved Domains (3) summary
    cd16195
    Location:501669
    EFh_PEF_CAPN13_14; Penta-EF hand, calcium binding motifs, found in calpain-13 (CAPN13), calpain-14 (CAPN14), and similar proteins
    pfam00648
    Location:35331
    Peptidase_C2; Calpain family cysteine protease
    cl00165
    Location:347474
    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. XM_011533161.3XP_011531463.1  calpain-13 isoform X1

    See identical proteins and their annotated locations for XP_011531463.1

    UniProtKB/Swiss-Prot
    Q6MZZ7
    Conserved Domains (3) summary
    cd16195
    Location:501669
    EFh_PEF_CAPN13_14; Penta-EF hand, calcium binding motifs, found in calpain-13 (CAPN13), calpain-14 (CAPN14), and similar proteins
    pfam00648
    Location:35331
    Peptidase_C2; Calpain family cysteine protease
    cl00165
    Location:347474
    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 ...
  3. XM_011533160.2XP_011531462.1  calpain-13 isoform X1

    See identical proteins and their annotated locations for XP_011531462.1

    UniProtKB/Swiss-Prot
    Q6MZZ7
    Conserved Domains (3) summary
    cd16195
    Location:501669
    EFh_PEF_CAPN13_14; Penta-EF hand, calcium binding motifs, found in calpain-13 (CAPN13), calpain-14 (CAPN14), and similar proteins
    pfam00648
    Location:35331
    Peptidase_C2; Calpain family cysteine protease
    cl00165
    Location:347474
    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 ...
  4. XM_017005266.2XP_016860755.1  calpain-13 isoform X2

  5. XM_011533159.3XP_011531461.1  calpain-13 isoform X1

    See identical proteins and their annotated locations for XP_011531461.1

    UniProtKB/Swiss-Prot
    Q6MZZ7
    Conserved Domains (3) summary
    cd16195
    Location:501669
    EFh_PEF_CAPN13_14; Penta-EF hand, calcium binding motifs, found in calpain-13 (CAPN13), calpain-14 (CAPN14), and similar proteins
    pfam00648
    Location:35331
    Peptidase_C2; Calpain family cysteine protease
    cl00165
    Location:347474
    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 ...
  6. XM_011533163.3XP_011531465.1  calpain-13 isoform X3

    Related
    ENSP00000416191.2, ENST00000458085.6
    Conserved Domains (1) summary
    pfam00648
    Location:35331
    Peptidase_C2; Calpain family cysteine protease

RNA

  1. XR_001739074.1 RNA Sequence

  2. XR_939743.3 RNA Sequence

  3. XR_939741.3 RNA Sequence

  4. XR_939742.3 RNA Sequence

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