Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 726
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol CAPN5   Gene   UCSC   Ensembl
Aliases ADNIV, HTRA3, VRNI, nCL-3
Gene name calpain 5
Alternate names calpain-5, calpain htra-3, new calpain 3, testis tissue sperm-binding protein Li 91mP,
Gene location 11q13.5 (77066944: 77126154)     Exons: 15     NC_000011.10
Gene summary(Entrez) 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]
OMIM 602537

Protein Summary

Protein general information O15484  

Name: Calpain 5 (EC 3.4.22. ) (Calpain htra 3) (New calpain 3) (nCL 3)

Length: 640  Mass: 73,169

Tissue specificity: Expressed in many tissues. Strong expression in the photoreceptor cells of the retina, with a punctate pattern of labeling over the nuclei and inner segments with less expression along the other segments and outer plexiform layer. {ECO

Sequence MFSCVKPYEDQNYSALRRDCRRRKVLFEDPLFPATDDSLYYKGTPGPAVRWKRPKGICEDPRLFVDGISSHDLHQ
GQVGNCWFVAACSSLASRESLWQKVIPDWKEQEWDPEKPNAYAGIFHFHFWRFGEWVDVVIDDRLPTVNNQLIYC
HSNSRNEFWCALVEKAYAKLAGCYQALDGGNTADALVDFTGGVSEPIDLTEGDFANDETKRNQLFERMLKVHSRG
GLISASIKAVTAADMEARLACGLVKGHAYAVTDVRKVRLGHGLLAFFKSEKLDMIRLRNPWGEREWNGPWSDTSE
EWQKVSKSEREKMGVTVQDDGEFWMTFEDVCRYFTDIIKCRVINTSHLSIHKTWEEARLHGAWTLHEDPRQNRGG
GCINHKDTFFQNPQYIFEVKKPEDEVLICIQQRPKRSTRREGKGENLAIGFDIYKVEENRQYRMHSLQHKAASSI
YINSRSVFLRTDQPEGRYVIIPTTFEPGHTGEFLLRVFTDVPSNCRELRLDEPPHTCWSSLCGYPQLVTQVHVLG
AAGLKDSPTGANSYVIIKCEGDKVRSAVQKGTSTPEYNVKGIFYRKKLSQPITVQVWNHRVLKDEFLGQVHLKAD
PDNLQALHTLHLRDRNSRQPSNLPGTVAVHILSSTSLMAV
Structural information
Protein Domains
Calpain (26-343)
C2. (518-619)
Interpro:  IPR033884 IPR000008 IPR033883 IPR022684 IPR022682 IPR022683 IPR000169 IPR001300
Prosite:   PS50203 PS00139

Pfam:  
PF01067 PF00648
CDD:   cd04046 cd00214 cd00044
STRING:   ENSP00000278559;
Other Databases GeneCards:  CAPN5;  Malacards:  CAPN5

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001541 ovarian follicle developm
ent
IEA biological_process
GO:0001553 luteinization
IEA biological_process
GO:0004198 calcium-dependent cystein
e-type endopeptidase acti
vity
IEA molecular_function
GO:0005737 cytoplasm
IBA cellular_component
GO:0005925 focal adhesion
IDA cellular_component
GO:0006508 proteolysis
IEA biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0009986 cell surface
IDA cellular_component
GO:0060014 granulosa cell differenti
ation
IEA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0001541 ovarian follicle developm
ent
IEA biological_process
GO:0001553 luteinization
IEA biological_process
GO:0004198 calcium-dependent cystein
e-type endopeptidase acti
vity
IEA molecular_function
GO:0004198 calcium-dependent cystein
e-type endopeptidase acti
vity
TAS molecular_function
GO:0005622 intracellular
IEA cellular_component
GO:0005737 cytoplasm
IBA cellular_component
GO:0005925 focal adhesion
IDA cellular_component
GO:0006508 proteolysis
IEA biological_process
GO:0006508 proteolysis
IEA biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0008233 peptidase activity
IEA molecular_function
GO:0008234 cysteine-type peptidase a
ctivity
IEA molecular_function
GO:0009986 cell surface
IDA cellular_component
GO:0016787 hydrolase activity
IEA molecular_function
GO:0060014 granulosa cell differenti
ation
IEA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0004198 calcium-dependent cystein
e-type endopeptidase acti
vity
TAS molecular_function
GO:0005737 cytoplasm
IBA cellular_component
GO:0005925 focal adhesion
IDA cellular_component
GO:0007165 signal transduction
TAS biological_process
GO:0009986 cell surface
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component

Diseases

Associated diseases References
Autosomal dominant neovascular inflammatory vitreoretinopathy KEGG: H01798, OMIM: 602537
Diabetes PMID: 16396936
Endometriosis PMID: 18829447
Polycystic ovary syndrome (PCOS) PMID: 16396936
Endometriosis INFBASE18829447

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
18829447 Endometrio
sis

50 (30 controls
, 20 subjects w
ith endometrios
is)
Calpain5
HOXA10
Show abstract