CAN15_HUMAN
ID CAN15_HUMAN Reviewed; 1086 AA.
AC O75808; B1B1M4; Q2KHS2; Q8WTY9; Q9BUW0;
DT 20-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1998, sequence version 1.
DT 03-AUG-2022, entry version 158.
DE RecName: Full=Calpain-15;
DE EC=3.4.22.-;
DE AltName: Full=Small optic lobes homolog;
GN Name=CAPN15; Synonyms=SOLH;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
RC TISSUE=Hippocampus;
RX PubMed=9722942; DOI=10.1006/geno.1998.5395;
RA Kamei M., Webb G.C., Young I.G., Campbell H.D.;
RT "SOLH, a human homologue of the Drosophila melanogaster small optic lobes
RT gene is a member of the calpain and zinc-finger gene families and maps to
RT human chromosome 16p13.3 near CATM (cataract with microphthalmia).";
RL Genomics 51:197-206(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11157797; DOI=10.1093/hmg/10.4.339;
RA Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., Tufarelli C.,
RA Kearney L., Buckle V.J., Doggett N.A., Flint J., Higgs D.R.;
RT "Sequence, structure and pathology of the fully annotated terminal 2 Mb of
RT the short arm of human chromosome 16.";
RL Hum. Mol. Genet. 10:339-352(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15616553; DOI=10.1038/nature03187;
RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA Myers R.M., Rubin E.M., Pennacchio L.A.;
RT "The sequence and analysis of duplication-rich human chromosome 16.";
RL Nature 432:988-994(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 525-1086 (ISOFORM 1).
RC TISSUE=Embryonic stem cell, Lung, and Placenta;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in a
RT refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-296; SER-335; SER-338 AND
RP SER-1070, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [8]
RP INVOLVEMENT IN OGIN, AND VARIANTS OGIN LEU-613; PHE-720; TRP-800; SER-969
RP AND LYS-1028.
RX PubMed=32885237; DOI=10.1093/hmg/ddaa198;
RA Zha C., Farah C.A., Holt R.J., Ceroni F., Al-Abdi L., Thuriot F.,
RA Khan A.O., Helaby R., Levesque S., Alkuraya F.S., Kraus A., Ragge N.K.,
RA Sossin W.S.;
RT "Biallelic variants in the small optic lobe calpain CAPN15 are associated
RT with congenital eye anomalies, deafness and other neurodevelopmental
RT deficits.";
RL Hum. Mol. Genet. 29:3054-3063(2020).
CC -!- INTERACTION:
CC O75808; Q15038: DAZAP2; NbExp=3; IntAct=EBI-6149008, EBI-724310;
CC O75808; P28799: GRN; NbExp=3; IntAct=EBI-6149008, EBI-747754;
CC O75808; P07686: HEXB; NbExp=3; IntAct=EBI-6149008, EBI-7133736;
CC O75808; Q9NWF9: RNF216; NbExp=3; IntAct=EBI-6149008, EBI-723313;
CC O75808; Q12933: TRAF2; NbExp=3; IntAct=EBI-6149008, EBI-355744;
CC O75808; Q9UHD9: UBQLN2; NbExp=3; IntAct=EBI-6149008, EBI-947187;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O75808-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O75808-2; Sequence=VSP_023361, VSP_023362;
CC -!- TISSUE SPECIFICITY: Widely expressed with higher expression in brain.
CC {ECO:0000269|PubMed:9722942}.
CC -!- DISEASE: Oculogastrointestinal neurodevelopmental syndrome (OGIN)
CC [MIM:619318]: An autosomal recessive neurodevelopmental disorder
CC characterized by growth deficits, microcephaly, global developmental
CC delay, hearing loss, and microphthalmia and/or coloboma. Other
CC congenital anomalies include imperforate anus, horseshoe kidney, and
CC structural cardiac defects. Some patients have been reported with
CC normal motor and cognitive development. {ECO:0000269|PubMed:32885237}.
CC Note=The disease may be caused by variants affecting the gene
CC represented in this entry.
CC -!- SIMILARITY: Belongs to the peptidase C2 family. {ECO:0000305}.
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DR EMBL; U85647; AAC33822.1; -; mRNA.
DR EMBL; AE006464; AAK61233.1; -; Genomic_DNA.
DR EMBL; Z97986; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471112; EAW85803.1; -; Genomic_DNA.
DR EMBL; BC001869; AAH01869.1; -; mRNA.
DR EMBL; BC021854; AAH21854.1; -; mRNA.
DR EMBL; BC112918; AAI12919.1; -; mRNA.
DR CCDS; CCDS10410.1; -. [O75808-1]
DR RefSeq; NP_005623.1; NM_005632.2. [O75808-1]
DR AlphaFoldDB; O75808; -.
DR SMR; O75808; -.
DR BioGRID; 112533; 32.
DR IntAct; O75808; 17.
DR MINT; O75808; -.
DR STRING; 9606.ENSP00000219611; -.
DR MEROPS; C02.031; -.
DR GlyGen; O75808; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; O75808; -.
DR PhosphoSitePlus; O75808; -.
DR BioMuta; CAPN15; -.
DR EPD; O75808; -.
DR jPOST; O75808; -.
DR MassIVE; O75808; -.
DR MaxQB; O75808; -.
DR PaxDb; O75808; -.
DR PeptideAtlas; O75808; -.
DR PRIDE; O75808; -.
DR ProteomicsDB; 50203; -. [O75808-1]
DR ProteomicsDB; 50204; -. [O75808-2]
DR Antibodypedia; 22715; 76 antibodies from 15 providers.
DR DNASU; 6650; -.
DR Ensembl; ENST00000219611.7; ENSP00000219611.2; ENSG00000103326.12. [O75808-1]
DR GeneID; 6650; -.
DR KEGG; hsa:6650; -.
DR MANE-Select; ENST00000219611.7; ENSP00000219611.2; NM_005632.3; NP_005623.1.
DR UCSC; uc002chi.3; human. [O75808-1]
DR CTD; 6650; -.
DR DisGeNET; 6650; -.
DR GeneCards; CAPN15; -.
DR HGNC; HGNC:11182; CAPN15.
DR HPA; ENSG00000103326; Low tissue specificity.
DR MIM; 603267; gene.
DR MIM; 619318; phenotype.
DR neXtProt; NX_O75808; -.
DR OpenTargets; ENSG00000103326; -.
DR PharmGKB; PA36019; -.
DR VEuPathDB; HostDB:ENSG00000103326; -.
DR eggNOG; KOG0045; Eukaryota.
DR GeneTree; ENSGT00940000158312; -.
DR HOGENOM; CLU_003001_0_0_1; -.
DR InParanoid; O75808; -.
DR OMA; HELMPHG; -.
DR PhylomeDB; O75808; -.
DR TreeFam; TF322245; -.
DR BRENDA; 3.4.22.B35; 2681.
DR PathwayCommons; O75808; -.
DR Reactome; R-HSA-1474228; Degradation of the extracellular matrix.
DR SignaLink; O75808; -.
DR BioGRID-ORCS; 6650; 12 hits in 1064 CRISPR screens.
DR GenomeRNAi; 6650; -.
DR Pharos; O75808; Tbio.
DR PRO; PR:O75808; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; O75808; protein.
DR Bgee; ENSG00000103326; Expressed in lower esophagus mucosa and 154 other tissues.
DR ExpressionAtlas; O75808; baseline and differential.
DR Genevisible; O75808; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0004198; F:calcium-dependent cysteine-type endopeptidase activity; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0006508; P:proteolysis; IBA:GO_Central.
DR CDD; cd00044; CysPc; 1.
DR InterPro; IPR022684; Calpain_cysteine_protease.
DR InterPro; IPR038765; Papain-like_cys_pep_sf.
DR InterPro; IPR000169; Pept_cys_AS.
DR InterPro; IPR001300; Peptidase_C2_calpain_cat.
DR InterPro; IPR001876; Znf_RanBP2.
DR InterPro; IPR036443; Znf_RanBP2_sf.
DR Pfam; PF00648; Peptidase_C2; 1.
DR Pfam; PF00641; zf-RanBP; 3.
DR PRINTS; PR00704; CALPAIN.
DR SMART; SM00230; CysPc; 1.
DR SMART; SM00547; ZnF_RBZ; 5.
DR SUPFAM; SSF54001; SSF54001; 1.
DR SUPFAM; SSF90209; SSF90209; 3.
DR PROSITE; PS50203; CALPAIN_CAT; 1.
DR PROSITE; PS00139; THIOL_PROTEASE_CYS; 1.
DR PROSITE; PS01358; ZF_RANBP2_1; 5.
DR PROSITE; PS50199; ZF_RANBP2_2; 4.
PE 1: Evidence at protein level;
KW Alternative splicing; Deafness; Hydrolase; Metal-binding; Microphthalmia;
KW Phosphoprotein; Protease; Reference proteome; Repeat; Thiol protease; Zinc;
KW Zinc-finger.
FT CHAIN 1..1086
FT /note="Calpain-15"
FT /id="PRO_0000278770"
FT DOMAIN 487..793
FT /note="Calpain catalytic"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00239"
FT ZN_FING 3..32
FT /note="RanBP2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00322"
FT ZN_FING 44..73
FT /note="RanBP2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00322"
FT ZN_FING 143..172
FT /note="RanBP2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00322"
FT ZN_FING 338..369
FT /note="RanBP2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00322"
FT ZN_FING 412..441
FT /note="RanBP2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00322"
FT REGION 111..148
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 199..280
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 299..321
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1064..1086
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 219..233
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 250..264
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT ACT_SITE 552
FT /evidence="ECO:0000250"
FT ACT_SITE 717
FT /evidence="ECO:0000250"
FT ACT_SITE 737
FT /evidence="ECO:0000250"
FT MOD_RES 296
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 335
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 338
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 1070
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 355..415
FT /note="TVAPRCSACGCSKLHGFQEHGEPPTHCPDCGADKPSPCGRSCGRVSSAQKAA
FT RVLPERPGQ -> CPPGLQPLGRGPESLPRAAGPRAGCVQLEAGHGGARGSPADHAGRR
FT HHPAHREPRRAARGP (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_023361"
FT VAR_SEQ 416..1086
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_023362"
FT VARIANT 613
FT /note="S -> L (in OGIN; unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:32885237"
FT /id="VAR_085921"
FT VARIANT 720
FT /note="S -> F (in OGIN; unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:32885237"
FT /id="VAR_085922"
FT VARIANT 800
FT /note="R -> W (in OGIN; unknown pathological significance;
FT dbSNP:rs762523863)"
FT /evidence="ECO:0000269|PubMed:32885237"
FT /id="VAR_085923"
FT VARIANT 969
FT /note="G -> S (in OGIN; unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:32885237"
FT /id="VAR_085924"
FT VARIANT 1028
FT /note="R -> K (in OGIN; unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:32885237"
FT /id="VAR_085925"
SQ SEQUENCE 1086 AA; 117314 MW; 9809A5CF9134A12C CRC64;
MATVGEWSCV RCTFLNPAGQ RQCSICEAPR HKPDLNHILR LSVEEQKWPC ARCTFRNFLG
KEACEVCGFT PEPAPGAAFL PVLNGVLPKP PAILGEPKGS CQEEAGPVRT AGLVATEPAR
GQCEDKDEEE KEEQEEEEGA AEPRGGWACP RCTLHNTPVA SSCSVCGGPR RLSLPRIPPE
ALVVPEVVAP AGFHVVPAAP PPGLPGEGAE ANPPATSQGP AAEPEPPRVP PFSPFSSTLQ
NNPVPRSRRE VPPQLQPPVP EAAQPSPSAG CRGAPQGSGW AGASRLAELL SGKRLSVLEE
EATEGGTSRV EAGSSTSGSD IIDLAGDTVR YTPASPSSPD FTTWSCAKCT LRNPTVAPRC
SACGCSKLHG FQEHGEPPTH CPDCGADKPS PCGRSCGRVS SAQKAARVLP ERPGQWACPA
CTLLNALRAK HCAACHTPQL LVAQRRGAAP LRRRESMHVE QRRQTDEGEA KALWENIVAF
CRENNVSFVD DSFPPGPESV GFPAGDSVQQ RVRQWLRPQE INCSVFRDHR ATWSVFHTLR
PSDILQGLLG NCWFLSALAV LAERPDLVER VMVTRSLCAE GAYQVRLCKD GTWTTVLVDD
MLPCDEAGCL LFSQAQRKQL WVALIEKALA KLHGSYFALQ AGRAIEGLAT LTGAPCESLA
LQLSSTNPRE EPVDTDLIWA KMLSSKEAGF LMGASCGGGN MKVDDSAYES LGLRPRHAYS
ILDVRDVQGT RLLRLRNPWG RFSWNGSWSD EWPHWPGHLR GELMPHGSSE GVFWMEYGDF
VRYFDSVDIC KVHSDWQEAR VQGCFPSSAS APVGVTALTV LERASLEFAL FQEGSRRSDA
VDSHLLDLCI LVFRATFGSG GHLSLGRLLA HSKRAVKKFV SCDVMLEPGE YAVVCCAFNH
WGPPLPGTPA PQASSPSAGV PRASPEPPGH VLAVYSSRLV MVEPVEAQPT TLADAIILLT
ESRGERHEGR EGMTCYYLTH GWAGLIVVVE NRHPKAYLHV QCDCTDSFNV VSTRGSLRTQ
DSVPPLHRQV LVILSQLEGN AGFSITHRLA HRKAAQAFLS DWTASKGTHS PPLTPEVAGL
HGPRPL
