CAPN1 (calpain 1)

Gene

• Entrez ID: 823
• Gene name: Calpain 1
• Gene symbol: CAPN1
• Synonyms: 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:0004198	Function	Calcium-dependent cysteine-type endopeptidase activity	IBA	21873635
GO:0004198	Function	Calcium-dependent cysteine-type endopeptidase activity	IDA	2407243, 16411745
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:0005515	Function	Protein binding	IPI	9407132, 19712109, 21988832, 22805611, 32814053
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005739	Component	Mitochondrion	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005829	Component	Cytosol	IDA	8769305, 12150984, 14559243, 21531719
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	8769305, 12150984
GO:0005886	Component	Plasma membrane	TAS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006508	Process	Proteolysis	IBA	21873635
GO:0006508	Process	Proteolysis	IDA	2400579, 2407243, 16411745, 21531719
GO:0006508	Process	Proteolysis	ISS
GO:0008233	Function	Peptidase activity	IDA	23707407
GO:0008284	Process	Positive regulation of cell population proliferation	TAS	8702541
GO:0016020	Component	Membrane	IDA	14559243
GO:0016241	Process	Regulation of macroautophagy	NAS	17264674
GO:0022617	Process	Extracellular matrix disassembly	TAS
GO:0032801	Process	Receptor catabolic process	IEA
GO:0043312	Process	Neutrophil degranulation	TAS
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:0070268	Process	Cornification	TAS
GO:0097264	Process	Self proteolysis	IDA	8769305, 8954105
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS
GO:2000310	Process	Regulation of NMDA receptor activity	TAS	17526495

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

• 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

Causal
Disease name	Disease term	dbSNP ID	References
Melanoma	melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050	22535842
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Spastic paraplegia	Spastic Paraplegia, SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE, Autosomal recessive spastic paraplegia type 76	rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520, rs137852521, rs137852524, rs137852525, rs879253716, rs387906970, rs587776888, rs759947457, rs587776891, rs753426920, rs387907057, rs397514478, rs387907285, rs387907287, rs387907288, rs281865120, rs397514513, rs141431913, rs312262755, rs398123013, rs398123014, rs398122382, rs745744124, rs483352924, rs483352925, rs587777222, rs587779388, rs587783179, rs587783772, rs587784383, rs587784384, rs730882249, rs762947018, rs786204628, rs141315518, rs786204416, rs786204750, rs770866403, rs775059063, rs797044787, rs794729214, rs794729215, rs797045050, rs370828455, rs146262009, rs797045244, rs780247476, rs185246578, rs766773277, rs863224494, rs752669339, rs869320690, rs200737038, rs869312914, rs752283089, rs751713917, rs756205995, rs875989787, rs875989845, rs375817528, rs200440467, rs876661295, rs794727501, rs770285398, rs878854745, rs878854975, rs878855013, rs878855011, rs878855083, rs878853979, rs879255397, rs879255396, rs886039410, rs886039409, rs886039407, rs886039408, rs886039405, rs886039406, rs752598529, rs752059006, rs202199411, rs886041949, rs886041127, rs886042238, rs1057517123, rs747868017, rs1057517294, rs565203731, rs753205260, rs1057517002, rs779338945, rs755186798, rs1057517250, rs1057517060, rs753012964, rs758572409, rs1057516959, rs1057516438, rs145766983, rs1057516689, rs1057516932, rs1057516635, rs1057517366, rs759166250, rs1057517138, rs761089024, rs1057517297, rs1057517311, rs1057516779, rs1057517039, rs1057517285, rs1057516365, rs1057516625, rs1057516987, rs1057516837, rs1057518016, rs1057518880, rs1057518697, rs1057519289, rs1057519290, rs1057519291, rs1057519292, rs1057519293, rs1057521784, rs1060499756, rs1060499771, rs1060502224, rs1060502523, rs371019314, rs1060503431, rs774906736, rs372350326, rs776976178, rs370837940, rs1064793162, rs1064793920, rs1555177629, rs1555394376, rs377445018, rs767024102, rs768176054, rs1557090943, rs1557090161, rs1555178616, rs1555251539, rs754439135, rs1321353475, rs1555186937, rs767871841, rs867249938, rs1440541889, rs1555456727, rs1268722908, rs1557092247, rs1557092248, rs765632065, rs773246271, rs1554380391, rs1554517327, rs200268523, rs1156566314, rs1160357920, rs773182375, rs768366199, rs774809466, rs1555542889, rs915291720, rs1021034246, rs769676029, rs746979262, rs1033093801, rs955142329, rs760559263, rs1557091773, rs1372213267, rs1557091678, rs1402429085, rs1555179091, rs1555179087, rs374128662, rs142209254, rs1553259463, rs1555254256, rs755820725, rs1335804396, rs568176223, rs1555979596, rs780030221, rs1553314978, rs923921184, rs1556840029, rs374894037, rs1553262438, rs1555249362, rs950356390, rs1557091278, rs1557090220, rs1259615333, rs1555249276, rs1555249425, rs1555249479, rs1555249555, rs1555250949, rs1555252349, rs1167474602, rs1175545518, rs1555249648, rs1555249878, rs1400601705, rs1555252086, rs745907077, rs1555249371, rs1555249904, rs1555393393, rs1028098148, rs766711286, rs767164213, rs1470672632, rs1555252184, rs1224762841, rs769329153, rs1555254734, rs1555397331, rs941230062, rs545219731, rs200832994, rs1555250255, rs1240368715, rs1555393338, rs1049504575, rs1485209013, rs868672014, rs1214483973, rs558285072, rs1555398241, rs1186788102, rs981804211, rs935301743, rs1555251822, rs1555255676, rs369459721, rs772400670, rs1558119445, rs759033144, rs1565705251, rs1566055368, rs1566058677, rs1006060877, rs1448182827, rs1569544908, rs754944359, rs754944429, rs1569544723, rs1569285562, rs367916692, rs1566893090, rs1177577061, rs1566881181, rs1569280986, rs1590847310, rs746220436, rs1569281085, rs529495094, rs1563920268, rs1563920252, rs1563920172, rs1563919973, rs1563920000, rs1563920132, rs751568153, rs1569274606, rs1455411788, rs1571908452, rs768640920, rs1578729121, rs1585896928, rs1585808059, rs1588001500, rs1011987148, rs1594915468, rs1594925773, rs1361370524, rs1593121507, rs1365858851, rs1593125341, rs1181477970, rs1593129673, rs1593133395, rs1593133714, rs1593144167, rs1593144544, rs1593144887, rs767435985, rs1593147785, rs994374354, rs1593157923, rs1594900921, rs1594906944, rs1594910045, rs1594913346, rs1594930532, rs1594938339, rs140354725, rs1418885000, rs1603275195, rs1603276234, rs1574077569, rs1603275315, rs1587878722, rs1587879449, rs1593133607, rs770490672, rs1602099961, rs778722037, rs756830713, rs1593121484, rs763869212, rs1594912625, rs1597556143, rs778113360, rs377278120, rs933233143, rs1572337800, rs1573072864, rs1593125290, rs1593126754, rs1593123432, rs1571563769, rs1584514057, rs772704931, rs1587878961, rs1802811311, rs1052410160, rs1298132281, rs748480664, rs139015012, rs1340636078, rs927804920, rs1883405453, rs1883566609, rs1868403104, rs1868480299, rs1868481514, rs1868567420, rs1868626730, rs1868628768, rs1868872666, rs1869006331, rs769212398, rs757179309, rs2039098098, rs2039228359, rs774867891, rs2039613696, rs2039616151, rs2039786680, rs2039997721, rs748149642, rs2040215878, rs760484081, rs1204169977, rs367665974, rs201311640, rs1034820850, rs1930458591, rs1882179247, rs2039758874, rs1885117995, rs1805435464	28566166, 27153400

Unknown
Disease name	Disease term	dbSNP ID	References
Benign neoplasm	Benign Neoplasm		19266085
Brain atrophy	Brain atrophy
Cervical spondylosis	Cervical spondylosis
Distal lower limb amyotrophy	Distal lower limb amyotrophy
Dysarthria	Dysarthria
Horizontal nystagmus	Horizontal Nystagmus
Malignant neoplasm	Malignant Neoplasms		19266085
Neoplasms	Neoplasms		19266085
Nervous system diseases	Peripheral Nervous System Diseases
Neuropapillitis	Neuropapillitis		23860028
Optic neuritis	Optic Neuritis		23860028
Retrobulbar neuritis	Retrobulbar Neuritis		23860028
Spinal stenosis of lumbar region	Spinal stenosis of lumbar region