• Gene id: 831

Gene Summary

• Gene Symbol: CAST   Gene   UCSC   Ensembl
• Aliases: BS-17, PLACK
• Gene name: calpastatin
• Alternate names: calpastatin, calpain inhibitor, sperm BS-17 component,
• Gene location: 5q15 (96662036: 96774682)     Exons: 36     NC_000005.10
• Gene summary(Entrez): The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains 1-4), and it is involved in the proteolysis of amyloid
• OMIM: 114090

SNPs

rs11763979

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

NC_000007.14   g.141762737G>A
NC_000007.14   g.141762737G>T
NC_000007.13   g.141462537G>A
NC_000007.13   g.141462537G>T|SEQ=[G/A/T]|GENE=TAS2R3

rs370681

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

NC_000016.10   g.342461C>T
NC_000016.9   g.392461C>T
NG_012267.1   g.15004G>A|SEQ=[C/T]|GENE=AXIN1

rs1805105

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

NC_000016.10   g.346264A>G
NC_000016.9   g.396264A>G
NG_012267.1   g.11201T>C
NM_003502.4   c.762T>C
NM_003502.3   c.762T>C
NM_181050.3   c.762T>C
NM_181050.2   c.762T>C
NR_134879.2   n.1198T>C
NR_134879.1   n.1151T>C
XM_011522682.2   c.909T>C
XM_011522683.2   c.909T>C
XM  

Protein Summary

• Protein general information: P20810  
  • Name: Calpastatin (Calpain inhibitor) (Sperm BS 17 component)
  • Length: 708  
  • Mass: 76573
• Sequence:

  MNPTETKAIPVSQQMEGPHLPNKKKHKKQAVKTEPEKKSQSTKLSVVHEKKSQEGKPKEHTEPKSLPKQASDTGS
  NDAHNKKAVSRSAEQQPSEKSTEPKTKPQDMISAGGESVAGITAISGKPGDKKKEKKSLTPAVPVESKPDKPSGK
  SGMDAALDDLIDTLGGPEETEEENTTYTGPEVSDPMSSTYIEELGKREVTIPPKYRELLAKKEGITGPPADSSKP
  IGPDDAIDALSSDFTCGSPTAAGKKTEKEESTEVLKAQSAGTVRSAAPPQEKKRKVEKDTMSDQALEALSASLGT
  RQAEPELDLRSIKEVDEAKAKEEKLEKCGEDDETIPSEYRLKPATDKDGKPLLPEPEEKPKPRSESELIDELSED
  FDRSECKEKPSKPTEKTEESKAAAPAPVSEAVCRTSMCSIQSAPPEPATLKGTVPDDAVEALADSLGKKEADPED
  GKPVMDKVKEKAKEEDREKLGEKEETIPPDYRLEEVKDKDGKPLLPKESKEQLPPMSEDFLLDALSEDFSGPQNA
  SSLKFEDAKLAAAISEVVSQTPASTTQAGAPPRDTSQSDKDLDDALDKLSDSLGQRQPDPDENKPMEDKVKEKAK
  AEHRDKLGERDDTIPPEYRHLLDDNGQDKPVKPPTKKSEDSKKPADDQDPIDALSGDLDSCPSTTETSQNTAKDK
  CKKAASSSKAPKNGGKAKDSAKTTEETSKPKDD

• Structural information:
  • Interpro: IPR026998  IPR001259  
  • STRING: ENSP00000379157
• Other Databases: GeneCards:  CAST  Malacards:  CAST

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990709	presynaptic active zone organization	TAS	biological process
GO:0097340	inhibition of cysteine-type endopeptidase activity	IBA	biological process
GO:0010859	calcium-dependent cysteine-type endopeptidase inhibitor activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0010466	negative regulation of peptidase activity	IEA	biological process
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0004869	cysteine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0004866	endopeptidase inhibitor activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0045296	cadherin binding	HDA	molecular function
GO:2000675	negative regulation of type B pancreatic cell apoptotic process	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0097340	inhibition of cysteine-type endopeptidase activity	IMP	biological process
GO:0010859	calcium-dependent cysteine-type endopeptidase inhibitor activity	IMP	molecular function
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05131	Shigellosis

Diseases

Associated diseases	References
Congenital myasthenic syndrome 1A	PMID:17853947
Alzheimer's disease	PMID:19020018
Sjogren's syndrome	PMID:15540513
Parkinson's disease	PMID:10722997
Parkinson's disease	PMID:20127884
Rheumatoid arthritis	PMID:7706496
Psoriasis	PMID:15654835
Systemic lupus erythematosus	PMID:12367559
Pemphigus	PMID:16314468
acute lymphocytic leukemia	PMID:11264179
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray