• Gene id: 726

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 (77066970: 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 subuni
• OMIM: 603695

SNPs

rs10246939

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.141972804T>C
NC_000007.13   g.141672604T>C
NG_016141.1   g.5970A>G
NM_176817.5   c.886A>G
NM_176817.4   c.886A>G
NW_003571040.1   g.114755T>C
NP_789787.5   p.Ile296Val|SEQ=[T/C]|GENE=TAS2R38

Protein Summary

• Protein general information: O15484  
  • Name: Calpain 5 (EC 3.4.22. ) (Calpain htra 3) (New calpain 3) (nCL 3)
  • Length: 640  
  • Mass: 73169
  • 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: (26..34-)
    (/note="Calpain-catalytic)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00239-)
    (499..61-)
    (/note="C2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041"-)
  • Interpro: IPR033884  IPR000008  IPR035892  IPR033883  IPR022684   IPR022682  IPR022683  IPR036213  IPR038765  IPR000169  IPR001300  
  • Prosite: PS50004 PS50203 PS00139
  • CDD: cd04046 cd00214 cd00044
  • STRING: ENSP00000278559
• Other Databases: GeneCards:  CAPN5  Malacards:  CAPN5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004198	calcium-dependent cysteine-type endopeptidase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0006508	proteolysis	IBA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0004198	calcium-dependent cysteine-type endopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0004198	calcium-dependent cysteine-type endopeptidase activity	TAS	molecular function
GO:0007165	signal transduction	TAS	biological process
GO:0045202	synapse	IEA	cellular component
GO:0005925	focal adhesion	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0004198	calcium-dependent cysteine-type endopeptidase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0006508	proteolysis	IBA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0004198	calcium-dependent cysteine-type endopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0004198	calcium-dependent cysteine-type endopeptidase activity	TAS	molecular function
GO:0007165	signal transduction	TAS	biological process
GO:0045202	synapse	IEA	cellular component
GO:0005925	focal adhesion	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Autosomal dominant neovascular inflammatory vitreoretinopathy	KEGG:H01798
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq