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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
  • extracellular matrix organization Source: Reactome
  • 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
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_121139. 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
ProteomesiUP000005640 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
Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti13 – 131A → E in OI7; severe form. 1 Publication
VAR_063599
Natural varianti67 – 671L → P in OI7. 1 Publication
VAR_054442
Natural varianti157 – 1571K → E in OI7; severe form. 1 Publication
VAR_063600

Keywords - Diseasei

Disease mutation, Dwarfism, Osteogenesis imperfecta

Organism-specific databases

MIMi610682. phenotype.
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)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2626Sequence AnalysisAdd
BLAST
Chaini27 – 401375Cartilage-associated proteinPRO_0000006319Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi87 – 871N-linked (GlcNAc...)Sequence Analysis
Glycosylationi363 – 3631N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein, Hydroxylation

Proteomic databases

MaxQBiO75718.
PaxDbiO75718.
PRIDEiO75718.

PTM databases

PhosphoSiteiO75718.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiO75718.
CleanExiHS_CRTAP.
ExpressionAtlasiO75718. baseline and differential.
GenevestigatoriO75718.

Organism-specific databases

HPAiHPA043598.
HPA044150.

Interactioni

Protein-protein interaction databases

BioGridi115754. 22 interactions.
IntActiO75718. 3 interactions.
STRINGi9606.ENSP00000323696.

Structurei

3D structure databases

ProteinModelPortaliO75718.
SMRiO75718. Positions 302-335.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the leprecan family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG306541.
GeneTreeiENSGT00550000074573.
HOGENOMiHOG000247068.
HOVERGENiHBG005540.
InParanoidiO75718.
OMAiFPRHELM.
OrthoDBiEOG7F7W8W.
PhylomeDBiO75718.
TreeFamiTF320837.

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti13 – 131A → E in OI7; severe form. 1 Publication
VAR_063599
Natural varianti67 – 671L → P in OI7. 1 Publication
VAR_054442
Natural varianti137 – 1371E → D.1 Publication
Corresponds to variant rs17850371 [ dbSNP | Ensembl ].
VAR_032846
Natural varianti157 – 1571K → E in OI7; severe form. 1 Publication
VAR_063600
Natural varianti261 – 2611L → V.
Corresponds to variant rs1135127 [ dbSNP | Ensembl ].
VAR_053050

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.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Osteogenesis imperfecta variant database

Cartilage-associated protein (CRTAP)

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.

3D structure databases

ProteinModelPortaliO75718.
SMRiO75718. Positions 302-335.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115754. 22 interactions.
IntActiO75718. 3 interactions.
STRINGi9606.ENSP00000323696.

PTM databases

PhosphoSiteiO75718.

Polymorphism and mutation databases

BioMutaiCRTAP.

Proteomic databases

MaxQBiO75718.
PaxDbiO75718.
PRIDEiO75718.

Protocols and materials databases

DNASUi10491.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000320954; ENSP00000323696; ENSG00000170275.
GeneIDi10491.
KEGGihsa:10491.
UCSCiuc003cfl.4. human.

Organism-specific databases

CTDi10491.
GeneCardsiGC03P033155.
HGNCiHGNC:2379. CRTAP.
HPAiHPA043598.
HPA044150.
MIMi605497. gene.
610682. phenotype.
neXtProtiNX_O75718.
Orphaneti216804. Osteogenesis imperfecta type 2.
216812. Osteogenesis imperfecta type 3.
216820. Osteogenesis imperfecta type 4.
PharmGKBiPA26900.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG306541.
GeneTreeiENSGT00550000074573.
HOGENOMiHOG000247068.
HOVERGENiHBG005540.
InParanoidiO75718.
OMAiFPRHELM.
OrthoDBiEOG7F7W8W.
PhylomeDBiO75718.
TreeFamiTF320837.

Enzyme and pathway databases

ReactomeiREACT_121139. Collagen biosynthesis and modifying enzymes.

Miscellaneous databases

ChiTaRSiCRTAP. human.
GeneWikiiCartilage_associated_protein.
GenomeRNAii10491.
NextBioi39808.
PROiO75718.
SOURCEiSearch...

Gene expression databases

BgeeiO75718.
CleanExiHS_CRTAP.
ExpressionAtlasiO75718. baseline and differential.
GenevestigatoriO75718.

Family and domain databases

ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "cDNA cloning, characterization and chromosome mapping of the gene encoding human cartilage associated protein (CRTAP)."
    Tonachini L., Morello R., Monticone M., Skaug J., Scherer S.W., Cancedda R., Castagnola P.
    Cytogenet. Cell Genet. 87:191-194(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Fetal brain.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Placenta.
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ASP-137.
    Tissue: Kidney.
  4. Cited for: FUNCTION, INVOLVEMENT IN OI7.
  5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  6. "Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix."
    Valli M., Barnes A.M., Gallanti A., Cabral W.A., Viglio S., Weis M.A., Makareeva E., Eyre D., Leikin S., Antoniazzi F., Marini J.C., Mottes M.
    Clin. Genet. 82:453-459(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN OI7.
  7. Cited for: VARIANT OI7 PRO-67.
  8. Cited for: VARIANTS OI7 GLU-13 AND GLU-157.

Entry informationi

Entry nameiCRTAP_HUMAN
AccessioniPrimary (citable) accession number: O75718
Secondary accession number(s): B2RBL6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: November 1, 1998
Last modified: May 27, 2015
This is version 116 of the entry and version 1 of the sequence. [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

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.