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CAPN5 calpain 5 [ Homo sapiens (human) ]

Gene ID: 726, updated on 8-Oct-2018

Summary

Official Symbol
CAPN5provided by HGNC
Official Full Name
calpain 5provided by HGNC
Primary source
HGNC:HGNC:1482
See related
Ensembl:ENSG00000149260 MIM:602537; Vega:OTTHUMG00000165192
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
VRNI; ADNIV; HTRA3; nCL-3
Summary
Calpains are calcium-dependent cysteine proteases involved in signal transduction in a variety of cellular processes. A functional calpain protein consists of an invariant small subunit and 1 of a family of large subunits. CAPN5 is one of the large subunits. Unlike some of the calpains, CAPN5 and CAPN6 lack a calmodulin-like domain IV. Because of the significant similarity to Caenorhabditis elegans sex determination gene tra-3, CAPN5 is also called as HTRA3. [provided by RefSeq, Jul 2008]
Expression
Broad expression in colon (RPKM 33.5), duodenum (RPKM 28.3) and 19 other tissues See more
Orthologs

Genomic context

See CAPN5 in Genome Data Viewer
Location:
11q13.5
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (77066945..77126155)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (76777992..76837201)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369399 Neighboring gene uncharacterized LOC105369400 Neighboring gene olfactory marker protein Neighboring gene myosin VIIA Neighboring gene glycerophosphodiester phosphodiesterase domain containing 4

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?

Phenotypes

Associated conditions

Description Tests
Vitreoretinopathy, neovascular inflammatory
MedGen: C0242852 OMIM: 193235 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
NHGRI GWA Catalog
Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.
NHGRI GWA Catalog

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

Homology

Clone Names

  • FLJ46245

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium-dependent cysteine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular exosome HDA PubMed 
focal adhesion HDA PubMed 
synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
calpain-5
Names
calpain htra-3
new calpain 3
testis tissue sperm-binding protein Li 91mP

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_033002.1 RefSeqGene

    Range
    5001..64210
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004055.4NP_004046.2  calpain-5

    See identical proteins and their annotated locations for NP_004046.2

    Status: REVIEWED

    Source sequence(s)
    AP000752, BC018123
    Consensus CDS
    CCDS8248.1
    UniProtKB/Swiss-Prot
    O15484
    UniProtKB/TrEMBL
    A0A140VKH4
    Related
    ENSP00000278559.3, OTTHUMP00000228836, ENST00000278559.7, OTTHUMT00000382564
    Conserved Domains (3) summary
    cd04046
    Location:515638
    C2_Calpain; C2 domain present in Calpain proteins
    cd00214
    Location:352498
    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 ...
    pfam00648
    Location:27341
    Peptidase_C2; Calpain family cysteine protease

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_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    77066945..77126155
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545225.1XP_011543527.1  calpain-5 isoform X1

    See identical proteins and their annotated locations for XP_011543527.1

    Conserved Domains (3) summary
    smart00230
    Location:53391
    CysPc; Calpain-like thiol protease family
    cd04046
    Location:555678
    C2_Calpain; C2 domain present in Calpain proteins
    pfam01067
    Location:394533
    Calpain_III; Calpain large subunit, domain III
  2. XM_017018223.2XP_016873712.2  calpain-5 isoform X2

    Related
    ENSP00000496931.1, ENST00000648752.1
    Conserved Domains (3) summary
    cd04046
    Location:515638
    C2_Calpain; C2 domain present in Calpain proteins
    cd00214
    Location:352498
    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 ...
    pfam00648
    Location:27341
    Peptidase_C2; Calpain family cysteine protease
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