CRTAP
entrez
10491
canonical
uniprot
O75718
canonical
ensembl
ENSG00000170275
resolver
ensp
ENSP00000323696
resolver
ensp
ENSP00000409997
resolver
ensp
ENSP00000528706
resolver
ensp
ENSP00000528707
resolver
enst
ENST00000320954
resolver
enst
ENST00000449224
resolver
genesymbol
CRTAP
resolver
genesymbol_syn
CASP
resolver
hgnc
HGNC:2379
resolver
uniprot
B2RBL6
resolver
uniprot
C9JP16
resolver
uniprot_entry
C9JP16_HUMAN
resolver
uniprot_entry
CRTAP_HUMAN
resolver
uniprot_sec
B2RBL6
resolver
amino_acid_sequence
MEPGRRGAAALLALLCVACALRAGRAQYERYSFRSFPRDELMPLESAYRHALDKYSGEHWAESVGYLEISLRLHRLLRDSEAFCHRNCSAAPQPEPAAGLASYPELRLFGGLLRRAHCLKRCKQGLPAFRQSQPSREVLADFQRREPYKFLQFAYFKANNLPKAIAAAHTFLLKHPDDEMMKRNMAYYKSLPGAEDYIKDLETKSYESLFIRAVRAYNGENWRTSITDMELALPDFFKAFYECLAACEGSREIKDFKDFYLSIADHYVEVLECKIQCEENLTPVIGGYPVEKFVATMYHYLQFAYYKLNDLKNAAPCAVSYLLFDQNDKVMQQNLVYYQYHRDTWGLSDEHFQPRPEAVQFFNVTTLQKELYDFAKENIMDDDEGEVVEYVDDLLELEETS
uniprot
proteins
disease_involvement
DISEASE: Osteogenesis imperfecta 7 (OI7) [MIM:610682]: A form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI7 is an autosomal recessive, severe form. Multiple fractures are present at birth and patients have short stature, short humeri and femora, coxa vara, and white sclera. Dentinogenesis imperfecta is absent. Death can occur in the perinatal period due to secondary respiratory insufficiency. {ECO:0000269|PubMed:17055431, ECO:0000269|PubMed:18566967, ECO:0000269|PubMed:19550437, ECO:0000269|PubMed:21955071}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Necessary for efficient 3-hydroxylation of fibrillar collagen prolyl residues. {ECO:0000269|PubMed:17055431, ECO:0000269|PubMed:39245686}.
uniprot
proteins
mass_dalton
46562
uniprot
proteins
mutagenesis
MUTAGEN 255; /note="D->K: Decreased interaction with P3H1 and PPIB."; /evidence="ECO:0000269|PubMed:39245686
uniprot
proteins
protein_family
Leprecan family
uniprot
proteins
pubmed
10702664
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17055431
uniprot
proteins
pubmed
18566967
uniprot
proteins
pubmed
19550437
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21955071
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
39245686
uniprot
proteins
sequence_length
401
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
uniprot
proteins