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CAPN14 calpain 14 [ Homo sapiens (human) ]

Gene ID: 440854, updated on 25-Jan-2022

Summary

Official Symbol
CAPN14provided by HGNC
Official Full Name
calpain 14provided by HGNC
Primary source
HGNC:HGNC:16664
See related
Ensembl:ENSG00000214711 MIM:610229; AllianceGenome:HGNC:16664
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
Calpains are a family of cytosolic calcium-activated cysteine proteases involved in a variety of cellular processes including apoptosis, cell division, modulation of integrin-cytoskeletal interactions, and synaptic plasticity (Dear et al., 2000 [PubMed 10964513]). CAPN14 belongs to the calpain large subunit family.[supplied by OMIM, Mar 2008]
Expression
Restricted expression toward esophagus (RPKM 73.0) See more
Orthologs
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Genomic context

See CAPN14 in Genome Data Viewer
Location:
2p23.1
Exon count:
26
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (31173056..31233970, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (31395922..31456823, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene polypeptide N-acetylgalactosaminyltransferase 14 Neighboring gene uncharacterized LOC107985861 Neighboring gene RNA, 5S ribosomal pseudogene 90 Neighboring gene EH domain containing 3 Neighboring gene ribosomal protein L21 pseudogene 70

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

EBI GWAS Catalog

Description
Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.
EBI GWAS Catalog
GWAS identifies four novel eosinophilic esophagitis loci.
EBI GWAS Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120-treated vaginal epithelial cells show upregulation of calpain 14 (CAPN14) expression as compared to untreated control PubMed

Go to the HIV-1, Human Interaction Database

General gene information

Markers

Homology

Clone Names

  • FLJ54788

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 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-14
Names
CANP 14
calcium-activated neutral proteinase 14
NP_001138594.1
NP_001308199.1
XP_011531165.1
XP_011531166.1
XP_011531167.1
XP_011531168.1

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_001145122.2NP_001138594.1  calpain-14 isoform 1

    See identical proteins and their annotated locations for NP_001138594.1

    Status: VALIDATED

    Source sequence(s)
    AA743820, AC015980, AK092257, AK296910, DC347418
    Consensus CDS
    CCDS46254.1
    UniProtKB/Swiss-Prot
    A8MX76
    UniProtKB/TrEMBL
    B7Z467
    Related
    ENSP00000385247.3, ENST00000403897.4
    Conserved Domains (3) summary
    pfam00648
    Location:44334
    Peptidase_C2; Calpain family cysteine protease
    pfam01067
    Location:348496
    Calpain_III; Calpain large subunit, domain III
    cl08302
    Location:562616
    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_001321270.2NP_001308199.1  calpain-14 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC015980, AK092257, BX091474, DC372029
    UniProtKB/Swiss-Prot
    A8MX76
    Conserved Domains (2) summary
    pfam01067
    Location:172320
    Calpain_III; Calpain large subunit, domain III
    cl00051
    Location:13158
    CysPc; Calpains, domains IIa, IIb; calcium-dependent cytoplasmic cysteine proteinases, papain-like. Functions in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction.

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
    31173056..31233970 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532864.3XP_011531166.1  calpain-14 isoform X1

    See identical proteins and their annotated locations for XP_011531166.1

    UniProtKB/Swiss-Prot
    A8MX76
    Conserved Domains (3) summary
    pfam00648
    Location:44334
    Peptidase_C2; Calpain family cysteine protease
    pfam01067
    Location:348496
    Calpain_III; Calpain large subunit, domain III
    cl08302
    Location:562616
    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. XM_011532865.1XP_011531167.1  calpain-14 isoform X1

    See identical proteins and their annotated locations for XP_011531167.1

    UniProtKB/Swiss-Prot
    A8MX76
    Conserved Domains (3) summary
    pfam00648
    Location:44334
    Peptidase_C2; Calpain family cysteine protease
    pfam01067
    Location:348496
    Calpain_III; Calpain large subunit, domain III
    cl08302
    Location:562616
    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. XM_011532863.2XP_011531165.1  calpain-14 isoform X1

    See identical proteins and their annotated locations for XP_011531165.1

    UniProtKB/Swiss-Prot
    A8MX76
    Conserved Domains (3) summary
    pfam00648
    Location:44334
    Peptidase_C2; Calpain family cysteine protease
    pfam01067
    Location:348496
    Calpain_III; Calpain large subunit, domain III
    cl08302
    Location:562616
    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_011532866.2XP_011531168.1  calpain-14 isoform X2

    See identical proteins and their annotated locations for XP_011531168.1

    UniProtKB/Swiss-Prot
    A8MX76
    Conserved Domains (2) summary
    pfam01067
    Location:172320
    Calpain_III; Calpain large subunit, domain III
    cl00051
    Location:13158
    CysPc; Calpains, domains IIa, IIb; calcium-dependent cytoplasmic cysteine proteinases, papain-like. Functions in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction.

RNA

  1. XR_939683.2 RNA Sequence

  2. XR_939684.2 RNA Sequence

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