CAST (calpastatin)

Gene

• Entrez ID: 831
• Gene name: Calpastatin
• Gene symbol: CAST
• Synonyms: BS-17, MIR583HG, PLACK
• Chromosome: 5
• Chromosome location: 5q15
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs786204842	A>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs786205140	->A	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022430	hsa-miR-124-3p	Microarray	18668037
MIRT023661	hsa-miR-1-3p	Proteomics	18668040
MIRT028450	hsa-miR-30a-5p	Proteomics	18668040
MIRT046826	hsa-miR-222-3p	CLASH	23622248
MIRT437633	hsa-miR-150-5p	Microarray, qRT-PCR	22815788
MIRT864299	hsa-miR-129-5p	CLIP-seq
MIRT864300	hsa-miR-1912	CLIP-seq
MIRT864301	hsa-miR-19a	CLIP-seq
MIRT864302	hsa-miR-19b	CLIP-seq
MIRT864303	hsa-miR-3910	CLIP-seq
MIRT864304	hsa-miR-4269	CLIP-seq
MIRT864305	hsa-miR-4438	CLIP-seq
MIRT864306	hsa-miR-4476	CLIP-seq
MIRT864307	hsa-miR-4493	CLIP-seq
MIRT864308	hsa-miR-4521	CLIP-seq
MIRT864309	hsa-miR-4639-5p	CLIP-seq
MIRT864310	hsa-miR-4753-5p	CLIP-seq
MIRT864311	hsa-miR-4777-5p	CLIP-seq
MIRT864312	hsa-miR-5095	CLIP-seq
MIRT864313	hsa-miR-518d-5p	CLIP-seq
MIRT864314	hsa-miR-519b-5p	CLIP-seq
MIRT864315	hsa-miR-519c-5p	CLIP-seq
MIRT864316	hsa-miR-520c-5p	CLIP-seq
MIRT864317	hsa-miR-526a	CLIP-seq
MIRT864318	hsa-miR-759	CLIP-seq
MIRT864319	hsa-miR-892a	CLIP-seq
MIRT864320	hsa-miR-1275	CLIP-seq
MIRT864321	hsa-miR-4260	CLIP-seq
MIRT864322	hsa-miR-4665-5p	CLIP-seq
MIRT864323	hsa-miR-4723-5p	CLIP-seq
MIRT864324	hsa-miR-496	CLIP-seq
MIRT864325	hsa-miR-576-3p	CLIP-seq
MIRT1956185	hsa-miR-224	CLIP-seq
MIRT1956186	hsa-miR-340	CLIP-seq
MIRT1956187	hsa-miR-4307	CLIP-seq
MIRT1956188	hsa-miR-495	CLIP-seq
MIRT864301	hsa-miR-19a	CLIP-seq
MIRT864302	hsa-miR-19b	CLIP-seq
MIRT2436056	hsa-miR-1228	CLIP-seq
MIRT2436057	hsa-miR-2115	CLIP-seq
MIRT2436058	hsa-miR-3128	CLIP-seq
MIRT2436059	hsa-miR-3907	CLIP-seq
MIRT2436060	hsa-miR-3936	CLIP-seq
MIRT2436061	hsa-miR-4470	CLIP-seq
MIRT2436062	hsa-miR-516a-3p	CLIP-seq
MIRT2436056	hsa-miR-1228	CLIP-seq
MIRT2446211	hsa-miR-133a	CLIP-seq
MIRT2446212	hsa-miR-133b	CLIP-seq
MIRT2446213	hsa-miR-298	CLIP-seq
MIRT2436058	hsa-miR-3128	CLIP-seq
MIRT2446214	hsa-miR-342-3p	CLIP-seq
MIRT2446215	hsa-miR-3622a-3p	CLIP-seq
MIRT2446216	hsa-miR-3622b-3p	CLIP-seq
MIRT2446217	hsa-miR-3688-3p	CLIP-seq
MIRT2446218	hsa-miR-3914	CLIP-seq
MIRT2446219	hsa-miR-3915	CLIP-seq
MIRT2446220	hsa-miR-3928	CLIP-seq
MIRT2446221	hsa-miR-4328	CLIP-seq
MIRT2446222	hsa-miR-4802-3p	CLIP-seq
MIRT2446223	hsa-miR-494	CLIP-seq
MIRT2446224	hsa-miR-544b	CLIP-seq
MIRT2497090	hsa-miR-1245b-3p	CLIP-seq
MIRT864299	hsa-miR-129-5p	CLIP-seq
MIRT2497091	hsa-miR-1297	CLIP-seq
MIRT2497092	hsa-miR-1911	CLIP-seq
MIRT864301	hsa-miR-19a	CLIP-seq
MIRT864302	hsa-miR-19b	CLIP-seq
MIRT2497093	hsa-miR-26a	CLIP-seq
MIRT2497094	hsa-miR-26b	CLIP-seq
MIRT2497095	hsa-miR-3064-3p	CLIP-seq
MIRT2497096	hsa-miR-3653	CLIP-seq
MIRT2497097	hsa-miR-3658	CLIP-seq
MIRT2497098	hsa-miR-4465	CLIP-seq
MIRT2497099	hsa-miR-4694-5p	CLIP-seq
MIRT2497100	hsa-miR-4760-5p	CLIP-seq
MIRT2497101	hsa-miR-4797-5p	CLIP-seq
MIRT1956188	hsa-miR-495	CLIP-seq
MIRT864319	hsa-miR-892a	CLIP-seq
MIRT2497095	hsa-miR-3064-3p	CLIP-seq
MIRT2497102	hsa-miR-4768-5p	CLIP-seq
MIRT2497095	hsa-miR-3064-3p	CLIP-seq
MIRT2497095	hsa-miR-3064-3p	CLIP-seq
MIRT2497095	hsa-miR-3064-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674
GO:0004866	Function	Endopeptidase inhibitor activity	TAS	7638179
GO:0005515	Function	Protein binding	IPI	17474147, 24462690
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005829	Component	Cytosol	IDA	14559243
GO:0005829	Component	Cytosol	TAS
GO:0010859	Function	Calcium-dependent cysteine-type endopeptidase inhibitor activity	IBA	21873635
GO:0010859	Function	Calcium-dependent cysteine-type endopeptidase inhibitor activity	IMP	2407243
GO:0016020	Component	Membrane	IDA	14559243
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0097340	Process	Inhibition of cysteine-type endopeptidase activity	IBA	21873635
GO:0097340	Process	Inhibition of cysteine-type endopeptidase activity	IMP	2407243
GO:1990709	Process	Presynaptic active zone organization	TAS	27626661
GO:2000675	Process	Negative regulation of type B pancreatic cell apoptotic process	IDA	15044459

Other IDs

• MIM: 114090
• HGNC: 1515
• e!Ensembl: ENSG00000310517

Protein

• UniProt ID: P20810
• Protein name: Calpastatin (Calpain inhibitor) (Sperm BS-17 component)
• Protein function: Specific inhibition of calpain (calcium-dependent cysteine protease). Plays a key role in postmortem tenderization of meat and have been proposed to be involved in muscle protein degradation in living tissue.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00748	Calpain_inhib	71 → 225	Calpain inhibitor	Family
  PF00748	Calpain_inhib	232 → 358	Calpain inhibitor	Family
  PF00748	Calpain_inhib	369 → 500	Calpain inhibitor	Family
  PF00748	Calpain_inhib	512 → 639	Calpain inhibitor	Family

• Sequence:

  MNPTETKAIPVSQQMEGPHLPNKKKHKKQAVKTEPEKKSQSTKLSVVHEKKSQEGKPKEH
  TEPKSLPKQASDTGSNDAHNKKAVSRSAEQQPSEKSTEPKTKPQDMISAGGESVAGITAI
  SGKPGDKKKEKKSLTPAVPVESKPDKPSGKSGMDAALDDLIDTLGGPEETEEENTTYTGP
  EVSDPMSSTYIEELGKREVTIPPKYRELLAKKEGITGPPADSSKPIGPDDAIDALSSDFT
  CGSPTAAGKKTEKEESTEVLKAQSAGTVRSAAPPQEKKRKVEKDTMSDQALEALSASLGT
  RQAEPELDLRSIKEVDEAKAKEEKLEKCGEDDETIPSEYRLKPATDKDGKPLLPEPEEKP
  KPRSESELIDELSEDFDRSECKEKPSKPTEKTEESKAAAPAPVSEAVCRTSMCSIQSAPP
  EPATLKGTVPDDAVEALADSLGKKEADPEDGKPVMDKVKEKAKEEDREKLGEKEETIPPD
  YRLEEVKDKDGKPLLPKESKEQLPPMSEDFLLDALSEDFSGPQNASSLKFEDAKLAAAIS
  EVVSQTPASTTQAGAPPRDTSQSDKDLDDALDKLSDSLGQRQPDPDENKPMEDKVKEKAK
  AEHRDKLGERDDTIPPEYRHLLDDNGQDKPVKPPTKKSEDSKKPADDQDPIDALSGDLDS
  CPSTTETSQNTAKDKCKKAASSSKAPKNGGKAKDSAKTTEETSKPKDD

• Sequence length: 708

Pathways

KEGG:

Shigellosis

Reactome:

Degradation of the extracellular matrix
Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Liver failure	Liver Failure, Acute	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682	16871587
Lymphoblastic leukemia	Precursor Cell Lymphoblastic Leukemia Lymphoma	rs387906351, rs104894562, rs398122513, rs398122840, rs398123063, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591	28090653
Palmoplantar keratoderma	Keratoderma, Palmoplantar	rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951, rs397515640, rs397515641, rs142859678, rs797044479, rs577442939, rs672601344, rs568609861, rs1057518846, rs1182196436, rs1567037561
Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS, Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome	rs786205140, rs786204842, rs786205141	25683118
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	25574825, 20953190

Unknown
Disease name	Disease term	dbSNP ID	References
Angular cheilitis	Angular cheilitis
Ankylosing spondylitis	Ankylosing spondylitis		20062062
Onycholysis	Onycholysis