CAPN1 (calpain 1)

Gene

• Entrez ID: 823
• Gene name: Calpain 1
• Gene symbol: CAPN1
• Synonyms (NCBI Gene): CANP, CANP1, CANPL1, SPG76, muCANP, muCL
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 114220
• HGNC: 1476
• e!Ensembl: ENSG00000014216

Protein

• UniProt ID: 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

Pathways

KEGG:

Protein processing in endoplasmic reticulum
Apoptosis
Necroptosis
Cellular senescence
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Shigellosis

Reactome:

Degradation of the extracellular matrix
Neutrophil degranulation
Formation of the cornified envelope
Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal recessive spastic paraplegia type 76	Likely pathogenic; Pathogenic	rs1356340954, rs778438052, rs199559271, rs781683198, rs2539251246, rs756205995, rs875989787, rs875989845, rs375817528, rs779787878, rs1033093801, rs955142329, rs1590847310, rs778722037, rs756830713, rs758312955, rs1033887530, rs1948565964, rs776839253, rs1428333006, rs1948677308, rs781004578, rs1471188671, rs1948961118, rs1948992593, rs1949027966	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CAPN1-related disorder	Likely pathogenic; Pathogenic	rs2539312217, rs778722037	RCV003416783 RCV004754668	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer	Likely pathogenic; Pathogenic	rs199559271	RCV005922473	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia 11	Likely pathogenic; Pathogenic	rs1033093801	RCV005645104	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC NEURITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute pancreatitis	Pancreatitis	BEFREE	27282980		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Clear Cell	Adenocarcinoma	BEFREE	9988224		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	25151305		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	23085996, 29101791		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	9562261		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	30199441		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	23006733, 28448973		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	32860341	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	23741357, 27320912		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	23006733, 28448973		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	12063299		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	37168851	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Hereditary Spastic Paraplegia	Spastic paraplegia	BEFREE	27153400		★☆☆☆☆ Found in Text Mining only
Autosomal recessive spastic paraplegia type 76	Spastic Paraplegia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Benign Neoplasm	Benign Neoplasm	CTD_human_DG	19266085		★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27215381, 27798717, 30279968		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25539577, 27798717	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	27456359		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35308143	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	27456359	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	12635142		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	BEFREE	14575308		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	31830479		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	32860341	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	17728442		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	11516996, 27832728		★☆☆☆☆ Found in Text Mining only
Cervical spondylosis	Cervical spondylosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	30372842		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	33486633	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31002357		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29267303, 30874894		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	9988224		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	14612448	Inhibit	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	31324722		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30273822		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	33486633	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28013348, 31323271, 31791003		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	25790544	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28013348, 31323271, 31791003		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	30598071	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	17151322, 30598071		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	18071073		★☆☆☆☆ Found in Text Mining only
Distal lower limb amyotrophy	Distal lower limb amyotrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dysferlinopathy	Dysferlinopathy	BEFREE	30572172		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31262726		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	31262726	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31262726		★☆☆☆☆ Found in Text Mining only
Harlequin Fetus	Harlequin Ichthyosis	BEFREE	12823437		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	30874894		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29267303, 30874894		★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	27153400, 29847346, 30572172, 31023339, 31231303		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	28562483		★☆☆☆☆ Found in Text Mining only
Horizontal Nystagmus	Horizontal nystagmus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	28082186		★☆☆☆☆ Found in Text Mining only
Hypertension, Renovascular	Hypertension	BEFREE	31830479		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	23006733, 31830479		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	29533935		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	26248159, 29101791		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28232802, 30372842		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	30508278		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	27456359	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	27294874	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	27294874		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	25476568	Inhibit	★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	29993134		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	22366408		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27215381, 27798717, 30279968		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	27456359		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30565085		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28927135		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CTD_human_DG	19266085		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30565085, 9988224		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	19177143	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	CTD_human_DG	22535842		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	30131853, 30863494		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	BEFREE	29572388		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30273822		★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	30737623		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	8641689, 9888998		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	16598790, 8088891		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	LHGDN	16598790		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	27294874		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	27294874	Associate	★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA	Myeloproliferative Disorder with Eosinophilia	BEFREE	29997916		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	35432334	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	CTD_human_DG	19266085		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27456359, 29947213, 30131853, 30565085, 30863494, 31002357, 31532896, 9988224		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	30508278		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	11516996		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	29152136		★☆☆☆☆ Found in Text Mining only
Neuropapillitis	Neuropapillitis	CTD_human_DG	23860028		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	17151322		★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	BEFREE	31502361		★☆☆☆☆ Found in Text Mining only
Optic Neuritis	Optic Neuritis	CTD_human_DG	23860028		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	30448882, 35941978	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30565085		★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	32860341, 33486633	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	24619358, 29993134		★☆☆☆☆ Found in Text Mining only
Pelizaeus-Merzbacher Disease	Pelizaeus-Merzbacher disease	BEFREE	9562261		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	12393869, 18726991		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	28060905		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	35297214	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29101791		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	9988224		★☆☆☆☆ Found in Text Mining only
Retrobulbar Neuritis	Retrobulbar Neuritis	CTD_human_DG	23860028		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	27456359		★☆☆☆☆ Found in Text Mining only
Spastic Ataxia	Spastic Ataxia	BEFREE	30572172		★☆☆☆☆ Found in Text Mining only
Spastic Ataxia	Spastic ataxia	Pubtator	33486633	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE	Spastic Paraplegia	UNIPROT_DG	27153400		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE	Spastic Paraplegia	GENOMICS_ENGLAND_DG	28566166		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE	Spastic Paraplegia	BEFREE	30611022		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE	Spastic Paraplegia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE	Spastic Paraplegia	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE	Spastic Paraplegia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	30611022, 32860341, 35297214	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	30572172, 30611022, 31023339, 31231303		★☆☆☆☆ Found in Text Mining only
Spinal stenosis of lumbar region	Spinal Stenosis Of Lumbar Region	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	12635142		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28927135		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28089626, 28536704		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	28536704	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neurogenic	Neurogenic bladder	Pubtator	35297214	Inhibit	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	30266074		★☆☆☆☆ Found in Text Mining only