Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	823
Gene name	Calpain 1
Gene symbol	CAPN1
Synonyms (NCBI Gene)	CANPCANP1CANPL1SPG76muCANPmuCL
Chromosome	11
Chromosome location	11q13.1
Summary	The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct

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SNP ID	Visualize variation	Clinical significance	Consequence
rs375817528	G>A	Likely-pathogenic	Intron variant
rs756205995	G>A,C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs756830713	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs778722037	AG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs875989787	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs955142329	C>T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1033093801	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant

278

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miRTarBase ID	miRNA	Experiments	Reference
MIRT023560	hsa-miR-1-3p	Proteomics	18668040
MIRT025341	hsa-miR-34a-5p	Proteomics	21566225
MIRT025341	hsa-miR-34a-5p	Proteomics	21566225
MIRT267872	hsa-miR-140-5p	PAR-CLIP	22012620
MIRT267877	hsa-miR-203b-5p	PAR-CLIP	22012620
MIRT267879	hsa-miR-6718-5p	PAR-CLIP	22012620
MIRT538731	hsa-miR-4742-5p	PAR-CLIP	22012620
MIRT538730	hsa-miR-3158-5p	PAR-CLIP	22012620
MIRT538729	hsa-miR-1184	PAR-CLIP	22012620
MIRT267875	hsa-miR-1205	PAR-CLIP	22012620
MIRT538728	hsa-miR-17-3p	PAR-CLIP	22012620
MIRT538727	hsa-miR-4708-3p	PAR-CLIP	22012620
MIRT538726	hsa-miR-6809-5p	PAR-CLIP	22012620
MIRT267876	hsa-miR-4460	PAR-CLIP	22012620
MIRT538725	hsa-miR-6511b-5p	PAR-CLIP	22012620
MIRT538724	hsa-miR-6811-5p	PAR-CLIP	22012620
MIRT267873	hsa-miR-487a-5p	PAR-CLIP	22012620
MIRT267874	hsa-miR-487b-5p	PAR-CLIP	22012620
MIRT538726	hsa-miR-6809-5p	PAR-CLIP	26701625
MIRT538726	hsa-miR-6809-5p	PAR-CLIP	26701625
MIRT538726	hsa-miR-6809-5p	PAR-CLIP	26701625
MIRT267872	hsa-miR-140-5p	PAR-CLIP	22012620
MIRT267877	hsa-miR-203b-5p	PAR-CLIP	22012620
MIRT267879	hsa-miR-6718-5p	PAR-CLIP	22012620
MIRT538731	hsa-miR-4742-5p	PAR-CLIP	22012620
MIRT538730	hsa-miR-3158-5p	PAR-CLIP	22012620
MIRT538729	hsa-miR-1184	PAR-CLIP	22012620
MIRT267875	hsa-miR-1205	PAR-CLIP	22012620
MIRT538728	hsa-miR-17-3p	PAR-CLIP	22012620
MIRT538727	hsa-miR-4708-3p	PAR-CLIP	22012620
MIRT538726	hsa-miR-6809-5p	PAR-CLIP	22012620
MIRT267876	hsa-miR-4460	PAR-CLIP	22012620
MIRT538725	hsa-miR-6511b-5p	PAR-CLIP	22012620
MIRT538724	hsa-miR-6811-5p	PAR-CLIP	22012620
MIRT267873	hsa-miR-487a-5p	PAR-CLIP	22012620
MIRT267874	hsa-miR-487b-5p	PAR-CLIP	22012620
MIRT861820	hsa-miR-1203	CLIP-seq
MIRT861821	hsa-miR-124	CLIP-seq
MIRT861822	hsa-miR-1245b-3p	CLIP-seq
MIRT861823	hsa-miR-1254	CLIP-seq
MIRT861824	hsa-miR-1269	CLIP-seq
MIRT861825	hsa-miR-1269b	CLIP-seq
MIRT861826	hsa-miR-1288	CLIP-seq
MIRT861827	hsa-miR-1293	CLIP-seq
MIRT861828	hsa-miR-151-5p	CLIP-seq
MIRT861829	hsa-miR-1913	CLIP-seq
MIRT861830	hsa-miR-3116	CLIP-seq
MIRT861831	hsa-miR-3150a-3p	CLIP-seq
MIRT861832	hsa-miR-3166	CLIP-seq
MIRT861833	hsa-miR-3175	CLIP-seq
MIRT861834	hsa-miR-324-3p	CLIP-seq
MIRT861835	hsa-miR-3545-5p	CLIP-seq
MIRT861836	hsa-miR-3616-5p	CLIP-seq
MIRT861837	hsa-miR-3647-5p	CLIP-seq
MIRT861838	hsa-miR-3690	CLIP-seq
MIRT861839	hsa-miR-378	CLIP-seq
MIRT861840	hsa-miR-378b	CLIP-seq
MIRT861841	hsa-miR-378c	CLIP-seq
MIRT861842	hsa-miR-378d	CLIP-seq
MIRT861843	hsa-miR-378e	CLIP-seq
MIRT861844	hsa-miR-378f	CLIP-seq
MIRT861845	hsa-miR-378h	CLIP-seq
MIRT861846	hsa-miR-378i	CLIP-seq
MIRT861847	hsa-miR-422a	CLIP-seq
MIRT861848	hsa-miR-4277	CLIP-seq
MIRT861849	hsa-miR-4418	CLIP-seq
MIRT861850	hsa-miR-4468	CLIP-seq
MIRT861851	hsa-miR-4476	CLIP-seq
MIRT861852	hsa-miR-4481	CLIP-seq
MIRT861853	hsa-miR-4483	CLIP-seq
MIRT861854	hsa-miR-4494	CLIP-seq
MIRT861855	hsa-miR-4515	CLIP-seq
MIRT861856	hsa-miR-4727-5p	CLIP-seq
MIRT861857	hsa-miR-4740-5p	CLIP-seq
MIRT861858	hsa-miR-4745-5p	CLIP-seq
MIRT861859	hsa-miR-4757-5p	CLIP-seq
MIRT861860	hsa-miR-4758-5p	CLIP-seq
MIRT861861	hsa-miR-4771	CLIP-seq
MIRT861862	hsa-miR-4795-5p	CLIP-seq
MIRT861863	hsa-miR-491-5p	CLIP-seq
MIRT861864	hsa-miR-506	CLIP-seq
MIRT861865	hsa-miR-509-3-5p	CLIP-seq
MIRT861866	hsa-miR-509-5p	CLIP-seq
MIRT861867	hsa-miR-573	CLIP-seq
MIRT861868	hsa-miR-615-3p	CLIP-seq
MIRT861869	hsa-miR-642b	CLIP-seq
MIRT861870	hsa-miR-892a	CLIP-seq
MIRT861871	hsa-miR-939	CLIP-seq
MIRT861872	hsa-miR-3649	CLIP-seq
MIRT861873	hsa-miR-3922-5p	CLIP-seq
MIRT861874	hsa-miR-4286	CLIP-seq
MIRT861875	hsa-miR-4753-5p	CLIP-seq
MIRT861876	hsa-miR-602	CLIP-seq
MIRT861820	hsa-miR-1203	CLIP-seq
MIRT1955715	hsa-miR-1207-5p	CLIP-seq
MIRT861822	hsa-miR-1245b-3p	CLIP-seq
MIRT861823	hsa-miR-1254	CLIP-seq
MIRT861824	hsa-miR-1269	CLIP-seq
MIRT861825	hsa-miR-1269b	CLIP-seq
MIRT861826	hsa-miR-1288	CLIP-seq
MIRT1955716	hsa-miR-1289	CLIP-seq
MIRT861827	hsa-miR-1293	CLIP-seq
MIRT1955717	hsa-miR-1343	CLIP-seq
MIRT1955718	hsa-miR-182	CLIP-seq
MIRT1955719	hsa-miR-1909	CLIP-seq
MIRT861829	hsa-miR-1913	CLIP-seq
MIRT1955720	hsa-miR-1915	CLIP-seq
MIRT861830	hsa-miR-3116	CLIP-seq
MIRT861831	hsa-miR-3150a-3p	CLIP-seq
MIRT1955721	hsa-miR-3151	CLIP-seq
MIRT861833	hsa-miR-3175	CLIP-seq
MIRT861834	hsa-miR-324-3p	CLIP-seq
MIRT861836	hsa-miR-3616-5p	CLIP-seq
MIRT861837	hsa-miR-3647-5p	CLIP-seq
MIRT861872	hsa-miR-3649	CLIP-seq
MIRT1955722	hsa-miR-3652	CLIP-seq
MIRT1955723	hsa-miR-3688-3p	CLIP-seq
MIRT861838	hsa-miR-3690	CLIP-seq
MIRT1955724	hsa-miR-371-3p	CLIP-seq
MIRT1955725	hsa-miR-371b-3p	CLIP-seq
MIRT861839	hsa-miR-378	CLIP-seq
MIRT861840	hsa-miR-378b	CLIP-seq
MIRT861841	hsa-miR-378c	CLIP-seq
MIRT861842	hsa-miR-378d	CLIP-seq
MIRT861843	hsa-miR-378e	CLIP-seq
MIRT861844	hsa-miR-378f	CLIP-seq
MIRT861845	hsa-miR-378h	CLIP-seq
MIRT861846	hsa-miR-378i	CLIP-seq
MIRT861847	hsa-miR-422a	CLIP-seq
MIRT1955726	hsa-miR-4270	CLIP-seq
MIRT861848	hsa-miR-4277	CLIP-seq
MIRT861874	hsa-miR-4286	CLIP-seq
MIRT1955727	hsa-miR-4326	CLIP-seq
MIRT861849	hsa-miR-4418	CLIP-seq
MIRT1955728	hsa-miR-4430	CLIP-seq
MIRT1955729	hsa-miR-4441	CLIP-seq
MIRT861850	hsa-miR-4468	CLIP-seq
MIRT861852	hsa-miR-4481	CLIP-seq
MIRT861853	hsa-miR-4483	CLIP-seq
MIRT1955730	hsa-miR-4505	CLIP-seq
MIRT1955731	hsa-miR-4506	CLIP-seq
MIRT1955732	hsa-miR-4514	CLIP-seq
MIRT861855	hsa-miR-4515	CLIP-seq
MIRT1955733	hsa-miR-4532	CLIP-seq
MIRT1955734	hsa-miR-4692	CLIP-seq
MIRT861856	hsa-miR-4727-5p	CLIP-seq
MIRT861857	hsa-miR-4740-5p	CLIP-seq
MIRT861858	hsa-miR-4745-5p	CLIP-seq
MIRT861859	hsa-miR-4757-5p	CLIP-seq
MIRT1955735	hsa-miR-4763-3p	CLIP-seq
MIRT861862	hsa-miR-4795-5p	CLIP-seq
MIRT861863	hsa-miR-491-5p	CLIP-seq
MIRT861865	hsa-miR-509-3-5p	CLIP-seq
MIRT861866	hsa-miR-509-5p	CLIP-seq
MIRT1955736	hsa-miR-515-3p	CLIP-seq
MIRT1955737	hsa-miR-519e	CLIP-seq
MIRT861867	hsa-miR-573	CLIP-seq
MIRT861876	hsa-miR-602	CLIP-seq
MIRT861868	hsa-miR-615-3p	CLIP-seq
MIRT861869	hsa-miR-642b	CLIP-seq
MIRT861871	hsa-miR-939	CLIP-seq
MIRT1955738	hsa-miR-940	CLIP-seq
MIRT1955738	hsa-miR-940	CLIP-seq
MIRT2193346	hsa-miR-1207-3p	CLIP-seq
MIRT1955715	hsa-miR-1207-5p	CLIP-seq
MIRT861821	hsa-miR-124	CLIP-seq
MIRT2193347	hsa-miR-1301	CLIP-seq
MIRT861828	hsa-miR-151-5p	CLIP-seq
MIRT1955719	hsa-miR-1909	CLIP-seq
MIRT861829	hsa-miR-1913	CLIP-seq
MIRT861834	hsa-miR-324-3p	CLIP-seq
MIRT2193348	hsa-miR-342-5p	CLIP-seq
MIRT2193349	hsa-miR-4266	CLIP-seq
MIRT861848	hsa-miR-4277	CLIP-seq
MIRT1955732	hsa-miR-4514	CLIP-seq
MIRT2193350	hsa-miR-4651	CLIP-seq
MIRT2193351	hsa-miR-4660	CLIP-seq
MIRT2193352	hsa-miR-4664-5p	CLIP-seq
MIRT1955734	hsa-miR-4692	CLIP-seq
MIRT2193353	hsa-miR-4695-5p	CLIP-seq
MIRT2193354	hsa-miR-4716-3p	CLIP-seq
MIRT861856	hsa-miR-4727-5p	CLIP-seq
MIRT2193355	hsa-miR-4731-5p	CLIP-seq
MIRT1955735	hsa-miR-4763-3p	CLIP-seq
MIRT2193356	hsa-miR-5047	CLIP-seq
MIRT861864	hsa-miR-506	CLIP-seq
MIRT2193357	hsa-miR-608	CLIP-seq
MIRT861871	hsa-miR-939	CLIP-seq
MIRT1955738	hsa-miR-940	CLIP-seq
MIRT1955722	hsa-miR-3652	CLIP-seq
MIRT1955728	hsa-miR-4430	CLIP-seq
MIRT1955730	hsa-miR-4505	CLIP-seq
MIRT1955732	hsa-miR-4514	CLIP-seq
MIRT2193351	hsa-miR-4660	CLIP-seq
MIRT1955734	hsa-miR-4692	CLIP-seq
MIRT861820	hsa-miR-1203	CLIP-seq
MIRT1955715	hsa-miR-1207-5p	CLIP-seq
MIRT861822	hsa-miR-1245b-3p	CLIP-seq
MIRT2496408	hsa-miR-125a-5p	CLIP-seq
MIRT2496409	hsa-miR-125b	CLIP-seq
MIRT1955719	hsa-miR-1909	CLIP-seq
MIRT861829	hsa-miR-1913	CLIP-seq
MIRT2496410	hsa-miR-2114	CLIP-seq
MIRT2496411	hsa-miR-3150b-3p	CLIP-seq
MIRT2496412	hsa-miR-3183	CLIP-seq
MIRT2496413	hsa-miR-3192	CLIP-seq
MIRT861834	hsa-miR-324-3p	CLIP-seq
MIRT1955722	hsa-miR-3652	CLIP-seq
MIRT2496414	hsa-miR-3689a-3p	CLIP-seq
MIRT2496415	hsa-miR-3689c	CLIP-seq
MIRT861848	hsa-miR-4277	CLIP-seq
MIRT2496416	hsa-miR-4319	CLIP-seq
MIRT1955728	hsa-miR-4430	CLIP-seq
MIRT2496417	hsa-miR-4459	CLIP-seq
MIRT861850	hsa-miR-4468	CLIP-seq
MIRT1955730	hsa-miR-4505	CLIP-seq
MIRT1955732	hsa-miR-4514	CLIP-seq
MIRT1955734	hsa-miR-4692	CLIP-seq
MIRT2496418	hsa-miR-4709-3p	CLIP-seq
MIRT2496419	hsa-miR-4712-5p	CLIP-seq
MIRT2496420	hsa-miR-4723-3p	CLIP-seq
MIRT861856	hsa-miR-4727-5p	CLIP-seq
MIRT2496421	hsa-miR-4731-3p	CLIP-seq
MIRT2496422	hsa-miR-4732-3p	CLIP-seq
MIRT1955735	hsa-miR-4763-3p	CLIP-seq
MIRT2496423	hsa-miR-4784	CLIP-seq
MIRT2496424	hsa-miR-4801	CLIP-seq
MIRT2496425	hsa-miR-485-5p	CLIP-seq
MIRT2496426	hsa-miR-670	CLIP-seq
MIRT2496427	hsa-miR-765	CLIP-seq
MIRT2496428	hsa-miR-767-3p	CLIP-seq
MIRT2496429	hsa-miR-770-5p	CLIP-seq
MIRT1955738	hsa-miR-940	CLIP-seq
MIRT861820	hsa-miR-1203	CLIP-seq
MIRT2193346	hsa-miR-1207-3p	CLIP-seq
MIRT1955715	hsa-miR-1207-5p	CLIP-seq
MIRT861821	hsa-miR-124	CLIP-seq
MIRT861822	hsa-miR-1245b-3p	CLIP-seq
MIRT2496408	hsa-miR-125a-5p	CLIP-seq
MIRT2496409	hsa-miR-125b	CLIP-seq
MIRT2193347	hsa-miR-1301	CLIP-seq
MIRT1955719	hsa-miR-1909	CLIP-seq
MIRT861829	hsa-miR-1913	CLIP-seq
MIRT2496410	hsa-miR-2114	CLIP-seq
MIRT2496411	hsa-miR-3150b-3p	CLIP-seq
MIRT2496412	hsa-miR-3183	CLIP-seq
MIRT2496413	hsa-miR-3192	CLIP-seq
MIRT861834	hsa-miR-324-3p	CLIP-seq
MIRT1955722	hsa-miR-3652	CLIP-seq
MIRT2496414	hsa-miR-3689a-3p	CLIP-seq
MIRT2496415	hsa-miR-3689c	CLIP-seq
MIRT861848	hsa-miR-4277	CLIP-seq
MIRT2496416	hsa-miR-4319	CLIP-seq
MIRT1955728	hsa-miR-4430	CLIP-seq
MIRT2496417	hsa-miR-4459	CLIP-seq
MIRT861850	hsa-miR-4468	CLIP-seq
MIRT861851	hsa-miR-4476	CLIP-seq
MIRT1955730	hsa-miR-4505	CLIP-seq
MIRT1955732	hsa-miR-4514	CLIP-seq
MIRT2193351	hsa-miR-4660	CLIP-seq
MIRT1955734	hsa-miR-4692	CLIP-seq
MIRT2496418	hsa-miR-4709-3p	CLIP-seq
MIRT2496419	hsa-miR-4712-5p	CLIP-seq
MIRT2496420	hsa-miR-4723-3p	CLIP-seq
MIRT861856	hsa-miR-4727-5p	CLIP-seq
MIRT2496421	hsa-miR-4731-3p	CLIP-seq
MIRT2496422	hsa-miR-4732-3p	CLIP-seq
MIRT1955735	hsa-miR-4763-3p	CLIP-seq
MIRT2496423	hsa-miR-4784	CLIP-seq
MIRT2496424	hsa-miR-4801	CLIP-seq
MIRT2496425	hsa-miR-485-5p	CLIP-seq
MIRT2193356	hsa-miR-5047	CLIP-seq
MIRT861864	hsa-miR-506	CLIP-seq
MIRT2496426	hsa-miR-670	CLIP-seq
MIRT2496427	hsa-miR-765	CLIP-seq
MIRT2496428	hsa-miR-767-3p	CLIP-seq
MIRT2496429	hsa-miR-770-5p	CLIP-seq
MIRT1955738	hsa-miR-940	CLIP-seq

Show/Hide all (44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IEA
GO:0004198	Function	Calcium-dependent cysteine-type endopeptidase activity	IBA
GO:0004198	Function	Calcium-dependent cysteine-type endopeptidase activity	IDA	2407243, 16411745, 19617626
GO:0004198	Function	Calcium-dependent cysteine-type endopeptidase activity	IEA
GO:0004198	Function	Calcium-dependent cysteine-type endopeptidase activity	ISS
GO:0004198	Function	Calcium-dependent cysteine-type endopeptidase activity	TAS	17526495
GO:0005509	Function	Calcium ion binding	IDA	9271093
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	9407132, 19712109, 21988832, 22805611, 31324722, 32814053, 33961781, 35271311, 36012204
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005829	Component	Cytosol	IDA	8769305, 12150984, 14559243, 21531719
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	8769305, 12150984
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IDA	2400579, 2407243, 16411745, 21531719
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	ISS
GO:0006508	Process	Proteolysis	NAS	16411745
GO:0008233	Function	Peptidase activity	IDA	23707407
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	TAS	8702541
GO:0016020	Component	Membrane	IDA	14559243
GO:0016020	Component	Membrane	IEA
GO:0016241	Process	Regulation of macroautophagy	NAS	17264674
GO:0016787	Function	Hydrolase activity	IEA
GO:0032801	Process	Receptor catabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050790	Process	Regulation of catalytic activity	IDA	8954105, 9271093
GO:0060056	Process	Mammary gland involution	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145
GO:0097264	Process	Self proteolysis	IDA	8769305, 8954105
GO:0098989	Process	NMDA selective glutamate receptor signaling pathway	TAS	17526495
GO:0110158	Component	Calpain complex	ISS
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

MIM	HGNC	e!Ensembl
114220	1476	ENSG00000014216

P07384

Protein name

Calpain-1 catalytic subunit (EC 3.4.22.52) (Calcium-activated neutral proteinase 1) (CANP 1) (Calpain mu-type) (Calpain-1 large subunit) (Cell proliferation-inducing gene 30 protein) (Micromolar-calpain) (muCANP)

Protein function

Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction (PubMed:19617626, PubMed:21531719, PubMed:2400579). Proteolytically cleaves CTBP1 at 'As

PDB

1ZCM , 2ARY , 7W7O , 7X79 , 8GX3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00648	Peptidase_C2	56 → 352	Calpain family cysteine protease	Family
PF01067	Calpain_III	373 → 514	Calpain large subunit, domain III	Domain
PF13833	EF-hand_8	557 → 616	EF-hand domain pair	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:2400579, ECO:0000269|PubMed:3017764, ECO:0000269|PubMed:8769305, ECO:0000269|PubMed:8954105, ECO:0000269|PubMed:9271093}.

Sequence

MSEEIITPVYCTGVSAQVQKQRARELGLGRHENAIKYLGQDYEQLRVRCLQSGTLFRDEA
FPPVPQSLGYKDLGPNSSKTYGIKWKRPTELLSNPQFIVDGATRTDICQGALGDCWLLAA
IASLTLNDTLLHRVVPHGQSFQNGYAGIFHFQLWQFGEWVDVVVDDLLPIKDGKLVFVHS
AEGNEFWSALLEKAYAKVNGSYEALSGGSTSEGFEDFTGGVTEWYELRKAPSDLYQIILK
ALERGSLLGCSIDISSVLDMEAITFKKLVKGHAYSVTGAKQVNYRGQVVSLIRMRNPWGE
VEWTGAWSDSSSEWNNVDPYERDQLRVKMEDGEFWMSFRDFMREFTRLEICNLTPDALKS
RTIRKWNTTLYEGTWRRGSTAGGCRNYPATFWVNPQFKIRLDETDDPDDYGDRESGCSFV
LALMQKHRRRERRFGRDMETIGFAVYEVPPELVGQPAVHLKRDFFLANASRARSEQFINL
REVSTRFRLPPGEYVVVPSTFEPNKEGDFVLRFFSEKSAGTVELDDQIQANLPDEQVLSE
EEIDENFKALFRQLAGEDMEISVKELRTILNRIISKHKDLRTKGFSLESCRSMVNLMDRD
GNGKLGLVEFNILWNRIRNYLSIFRKFDLDKSGSMSAYEMRMAIESAGFKLNKKLYELII
TRYSEPDLAVDFDNFVCCLVRLETMFRFFKTLDTDLDGVVTFDLFKWLQLTMFA

Sequence length

714

Interactions

View interactions

	KEGG		Reactome
	Protein processing in endoplasmic reticulum Apoptosis Necroptosis Cellular senescence Alzheimer disease Pathways of neurodegeneration - multiple diseases Shigellosis		Degradation of the extracellular matrix Neutrophil degranulation Formation of the cornified envelope Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive spastic paraplegia type 76	Likely pathogenic; Pathogenic	rs1356340954, rs778438052, rs199559271, rs781683198, rs2539251246, rs756205995, rs875989787, rs875989845, rs375817528, rs779787878, rs1033093801, rs955142329, rs1590847310, rs778722037, rs756830713 View all (11 more)	RCV001330477 RCV001784066 RCV005419210 RCV003226494 RCV002465070 RCV000211054 RCV000211052 RCV000211053 RCV000211055 RCV003340713 RCV005252969 RCV001290099 RCV000786858 RCV000988577 RCV000988578 RCV005630852 RCV001251140 RCV001290095 RCV001290096 RCV001290097 RCV001290098 RCV001290100 RCV001290101 RCV001290102 RCV001290103 RCV001290104
CAPN1-related disorder	Likely pathogenic; Pathogenic	rs2539312217, rs778722037	RCV003416783 RCV004754668
Gastric cancer	Likely pathogenic; Pathogenic	rs199559271	RCV005922473
Hereditary spastic paraplegia 11	Likely pathogenic; Pathogenic	rs1033093801	RCV005645104

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs201171346	RCV005928072
Clear cell carcinoma of kidney	Likely benign	rs201602806	RCV005932151
Lung cancer	Benign	rs201171346	RCV005928077
Malignant tumor of esophagus	Benign	rs181157347, rs201171346	RCV005925895 RCV005928071
Malignant tumor of urinary bladder	Likely benign	rs201602806	RCV005932150
Ovarian serous cystadenocarcinoma	Benign	rs201171346	RCV005928075
Sarcoma	Benign	rs201171346	RCV005928073
Thymoma	Benign	rs201171346	RCV005928076
Uterine corpus endometrial carcinoma	Benign	rs201171346	RCV005928078
Uveal melanoma	Conflicting classifications of pathogenicity	rs17883283	RCV005911386

Show/Hide Text Mining Associations (40)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	32998713, 34252349
Adenocarcinoma Mucinous	Associate	30737623
Adenocarcinoma of Lung	Associate	32395869, 34728688
Adenoma	Associate	18085799
Ataxia	Associate	32860341
Autism Spectrum Disorder	Associate	37168851
Breast Neoplasms	Associate	25539577, 27798717
Carcinoma Renal Cell	Associate	35308143
Carcinoma Small Cell	Stimulate	27456359
Cerebellar Ataxia	Associate	32860341
Choriocarcinoma	Associate	24413738
Cognition Disorders	Associate	33486633
Cystic Fibrosis	Inhibit	14612448
Depressive Disorder	Associate	33486633
Diabetes Mellitus	Associate	25790544
Diabetes Mellitus Type 2	Associate	30598071
Disease	Associate	35297214
Freiberg's disease	Associate	25790544
Gait Disorders Neurologic	Inhibit	35297214
Glioblastoma	Associate	31262726
Inflammation	Associate	27323818
Laryngeal Neoplasms	Associate	27456359
Leukemia Myeloid Acute	Associate	27294874
Lewy Body Disease	Inhibit	25476568
Melanoma	Associate	19177143
Mental Disorders	Associate	35297214
Myelodysplastic Syndromes	Associate	27294874
Myocardial Infarction	Associate	35432334
Neoplasms	Associate	11882908, 27456359, 30448882, 30737623, 32395869, 35756844
Ovarian Neoplasms	Associate	30448882, 35941978
Paraplegia	Associate	32860341, 33486633
Pre Eclampsia	Associate	24413738
Preeclamptic toxemia	Associate	24413738
Psychotic Disorders	Associate	35297214
Rotator Cuff Injuries	Stimulate	18941855
Spastic Ataxia	Associate	33486633
Spastic Paraplegia Hereditary	Associate	30611022, 32860341, 35297214
Tachycardia Atrioventricular Nodal Reentry	Associate	27456359
Triple Negative Breast Neoplasms	Associate	28536704
Urinary Bladder Neurogenic	Inhibit	35297214

CAPN1 (calpain 1)