CAPN15
entrez
6650
canonical
uniprot
O75808
canonical
ensembl
ENSG00000103326
resolver
ensp
ENSP00000219611
resolver
ensp
ENSP00000541973
resolver
ensp
ENSP00000541976
resolver
ensp
ENSP00000541977
resolver
ensp
ENSP00000581927
resolver
ensp
ENSP00000788167
resolver
genesymbol
CAPN15
resolver
genesymbol_syn
SOLH
resolver
hgnc
HGNC:11182
resolver
uniprot
B1B1M4
resolver
uniprot
Q2KHS2
resolver
uniprot
Q8WTY9
resolver
uniprot
Q9BUW0
resolver
uniprot_entry
CAN15_HUMAN
resolver
uniprot_sec
B1B1M4
resolver
uniprot_sec
Q2KHS2
resolver
uniprot_sec
Q8WTY9
resolver
uniprot_sec
Q9BUW0
resolver
amino_acid_sequence
MATVGEWSCVRCTFLNPAGQRQCSICEAPRHKPDLNHILRLSVEEQKWPCARCTFRNFLGKEACEVCGFTPEPAPGAAFLPVLNGVLPKPPAILGEPKGSCQEEAGPVRTAGLVATEPARGQCEDKDEEEKEEQEEEEGAAEPRGGWACPRCTLHNTPVASSCSVCGGPRRLSLPRIPPEALVVPEVVAPAGFHVVPAAPPPGLPGEGAEANPPATSQGPAAEPEPPRVPPFSPFSSTLQNNPVPRSRREVPPQLQPPVPEAAQPSPSAGCRGAPQGSGWAGASRLAELLSGKRLSVLEEEATEGGTSRVEAGSSTSGSDIIDLAGDTVRYTPASPSSPDFTTWSCAKCTLRNPTVAPRCSACGCSKLHGFQEHGEPPTHCPDCGADKPSPCGRSCGRVSSAQKAARVLPERPGQWACPACTLLNALRAKHCAACHTPQLLVAQRRGAAPLRRRESMHVEQRRQTDEGEAKALWENIVAFCRENNVSFVDDSFPPGPESVGFPAGDSVQQRVRQWLRPQEINCSVFRDHRATWSVFHTLRPSDILQGLLGNCWFLSALAVLAERPDLVERVMVTRSLCAEGAYQVRLCKDGTWTTVLVDDMLPCDEAGCLLFSQAQRKQLWVALIEKALAKLHGSYFALQAGRAIEGLATLTGAPCESLALQLSSTNPREEPVDTDLIWAKMLSSKEAGFLMGASCGGGNMKVDDSAYESLGLRPRHAYSILDVRDVQGTRLLRLRNPWGRFSWNGSWSDEWPHWPGHLRGELMPHGSSEGVFWMEYGDFVRYFDSVDICKVHSDWQEARVQGCFPSSASAPVGVTALTVLERASLEFALFQEGSRRSDAVDSHLLDLCILVFRATFGSGGHLSLGRLLAHSKRAVKKFVSCDVMLEPGEYAVVCCAFNHWGPPLPGTPAPQASSPSAGVPRASPEPPGHVLAVYSSRLVMVEPVEAQPTTLADAIILLTESRGERHEGREGMTCYYLTHGWAGLIVVVENRHPKAYLHVQCDCTDSFNVVSTRGSLRTQDSVPPLHRQVLVILSQLEGNAGFSITHRLAHRKAAQAFLSDWTASKGTHSPPLTPEVAGLHGPRPL
uniprot
proteins
disease_involvement
DISEASE: Oculogastrointestinal neurodevelopmental syndrome (OGIN) [MIM:619318]: An autosomal recessive neurodevelopmental disorder characterized by growth deficits, microcephaly, global developmental delay, hearing loss, and microphthalmia and/or coloboma. Other congenital anomalies include imperforate anus, horseshoe kidney, and structural cardiac defects. Some patients have been reported with normal motor and cognitive development. {ECO:0000269|PubMed:32885237}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.22.-
uniprot
proteins
function
FUNCTION: Calcium-dependent cysteine protease that functions as a non-proteasomal, ubiquitin-directed protease regulating cell adhesion through cleavage of E-cadherin/CDH1. Binds to ubiquitinated proteins via its N-terminal, preferentially recognizing longer polyubiquitin chains including both 'Lys-48- and 'Lys-63'-linked chains. Recognizes the ubiquitinated E-cadherin-catenin complex and cleaves E-cadherin in a calcium- and ubiquitination-dependent manner resulting in lysosomal degradation of the resultant fragment (PubMed:41380969). Plays a critical role in eye, brain and cerebellar development (By similarity). In the developing brain, may regulate transcription factor abundance including PAX2 and PAX5 levels. Additional putative substrates include P-cadherin/CDH3, DCX and TUBB3 (By similarity). {ECO:0000250|UniProtKB:Q9JLG8, ECO:0000269|PubMed:32885237, ECO:0000269|PubMed:41380969}.
uniprot
proteins
mass_dalton
117314
uniprot
proteins
mutagenesis
MUTAGEN 552; /note="C->S: Complete loss of catalytic activity."; /evidence="ECO:0000269|PubMed:41380969
uniprot
proteins
protein_family
Peptidase C2 family
uniprot
proteins
pubmed
11157797
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
32885237
uniprot
proteins
pubmed
41380969
uniprot
proteins
pubmed
9722942
uniprot
proteins
sequence_length
1086
uniprot
proteins