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Protein

Cartilage-associated protein

Gene

CRTAP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Necessary for efficient 3-hydroxylation of fibrillar collagen prolyl residues.1 Publication

GO - Molecular functioni

GO - Biological processi

  • chaperone-mediated protein folding Source: UniProtKB
  • negative regulation of post-translational protein modification Source: UniProtKB
  • peptidyl-proline hydroxylation to 3-hydroxy-L-proline Source: Ensembl
  • protein stabilization Source: UniProtKB
  • spermatogenesis Source: Ensembl

Enzyme and pathway databases

ReactomeiR-HSA-1650814. Collagen biosynthesis and modifying enzymes.

Names & Taxonomyi

Protein namesi
Recommended name:
Cartilage-associated protein
Gene namesi
Name:CRTAP
Synonyms:CASP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:2379. CRTAP.

Subcellular locationi

GO - Cellular componenti

  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum lumen Source: Reactome
  • extracellular space Source: UniProtKB
  • macromolecular complex Source: UniProtKB
  • proteinaceous extracellular matrix Source: UniProtKB-SubCell

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Osteogenesis imperfecta 7 (OI7)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of osteogenesis imperfecta, a connective tissue disorder 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.
See also OMIM:610682
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06359913A → E in OI7; severe form. 1 PublicationCorresponds to variant dbSNP:rs137853938Ensembl.1
Natural variantiVAR_05444267L → P in OI7. 1 PublicationCorresponds to variant dbSNP:rs72659358Ensembl.1
Natural variantiVAR_063600157K → E in OI7; severe form. 1 PublicationCorresponds to variant dbSNP:rs137853942Ensembl.1

Keywords - Diseasei

Disease mutation, Dwarfism, Osteogenesis imperfecta

Organism-specific databases

DisGeNETi10491.
MalaCardsiCRTAP.
MIMi610682. phenotype.
OpenTargetsiENSG00000170275.
Orphaneti216804. Osteogenesis imperfecta type 2.
216812. Osteogenesis imperfecta type 3.
216820. Osteogenesis imperfecta type 4.
PharmGKBiPA26900.

Polymorphism and mutation databases

BioMutaiCRTAP.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 26Sequence analysisAdd BLAST26
ChainiPRO_000000631927 – 401Cartilage-associated proteinAdd BLAST375

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi87N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi363N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein, Hydroxylation

Proteomic databases

EPDiO75718.
MaxQBiO75718.
PaxDbiO75718.
PeptideAtlasiO75718.
PRIDEiO75718.

PTM databases

iPTMnetiO75718.
PhosphoSitePlusiO75718.
SwissPalmiO75718.

Expressioni

Tissue specificityi

Found in articular chondrocytes. Expressed in a variety of tissues.

Gene expression databases

BgeeiENSG00000170275.
CleanExiHS_CRTAP.
ExpressionAtlasiO75718. baseline and differential.
GenevisibleiO75718. HS.

Organism-specific databases

HPAiHPA043598.
HPA044150.

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi115754. 42 interactors.
IntActiO75718. 10 interactors.
STRINGi9606.ENSP00000323696.

Structurei

3D structure databases

ProteinModelPortaliO75718.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the leprecan family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410IQZH. Eukaryota.
ENOG410Y7XP. LUCA.
GeneTreeiENSGT00550000074573.
HOGENOMiHOG000247068.
HOVERGENiHBG005540.
InParanoidiO75718.
KOiK19606.
OMAiSEAFCNL.
OrthoDBiEOG091G06WO.
PhylomeDBiO75718.
TreeFamiTF320837.

Family and domain databases

Gene3Di1.25.40.10. 2 hits.
InterProiView protein in InterPro
IPR033212. Crtap.
IPR011990. TPR-like_helical_dom.
PANTHERiPTHR13986:SF10. PTHR13986:SF10. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

O75718-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MEPGRRGAAA LLALLCVACA LRAGRAQYER YSFRSFPRDE LMPLESAYRH
60 70 80 90 100
ALDKYSGEHW AESVGYLEIS LRLHRLLRDS EAFCHRNCSA APQPEPAAGL
110 120 130 140 150
ASYPELRLFG GLLRRAHCLK RCKQGLPAFR QSQPSREVLA DFQRREPYKF
160 170 180 190 200
LQFAYFKANN LPKAIAAAHT FLLKHPDDEM MKRNMAYYKS LPGAEDYIKD
210 220 230 240 250
LETKSYESLF IRAVRAYNGE NWRTSITDME LALPDFFKAF YECLAACEGS
260 270 280 290 300
REIKDFKDFY LSIADHYVEV LECKIQCEEN LTPVIGGYPV EKFVATMYHY
310 320 330 340 350
LQFAYYKLND LKNAAPCAVS YLLFDQNDKV MQQNLVYYQY HRDTWGLSDE
360 370 380 390 400
HFQPRPEAVQ FFNVTTLQKE LYDFAKENIM DDDEGEVVEY VDDLLELEET

S
Length:401
Mass (Da):46,562
Last modified:November 1, 1998 - v1
Checksum:i4BEED4089195456F
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06359913A → E in OI7; severe form. 1 PublicationCorresponds to variant dbSNP:rs137853938Ensembl.1
Natural variantiVAR_05444267L → P in OI7. 1 PublicationCorresponds to variant dbSNP:rs72659358Ensembl.1
Natural variantiVAR_032846137E → D1 PublicationCorresponds to variant dbSNP:rs17850371Ensembl.1
Natural variantiVAR_063600157K → E in OI7; severe form. 1 PublicationCorresponds to variant dbSNP:rs137853942Ensembl.1
Natural variantiVAR_053050261L → V. Corresponds to variant dbSNP:rs1135127Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ006470 mRNA. Translation: CAA07054.1.
AK314719 mRNA. Translation: BAG37263.1.
BC008745 mRNA. Translation: AAH08745.1.
CCDSiCCDS2657.1.
RefSeqiNP_006362.1. NM_006371.4.
UniGeneiHs.517888.

Genome annotation databases

EnsembliENST00000320954; ENSP00000323696; ENSG00000170275.
GeneIDi10491.
KEGGihsa:10491.
UCSCiuc003cfl.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCRTAP_HUMAN
AccessioniPrimary (citable) accession number: O75718
Secondary accession number(s): B2RBL6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: November 1, 1998
Last modified: August 30, 2017
This is version 139 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families