SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

O75718

- CRTAP_HUMAN

UniProt

O75718 - CRTAP_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Cartilage-associated protein

Gene
CRTAP, CASP
Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. protein complex binding Source: UniProt

GO - Biological processi

  1. chaperone-mediated protein folding Source: UniProt
  2. extracellular matrix organization Source: Reactome
  3. negative regulation of post-translational protein modification Source: UniProt
  4. peptidyl-proline hydroxylation to 3-hydroxy-L-proline Source: Ensembl
  5. protein stabilization Source: UniProt
  6. 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: Chromosome 3

Organism-specific databases

HGNCiHGNC:2379. CRTAP.

Subcellular locationi

GO - Cellular componenti

  1. endoplasmic reticulum Source: UniProt
  2. endoplasmic reticulum lumen Source: Reactome
  3. extracellular space Source: UniProt
  4. macromolecular complex Source: UniProt
  5. proteinaceous extracellular matrix Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Osteogenesis imperfecta 7 (OI7) [MIM:610682]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.4 Publications
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.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2626 Reviewed predictionAdd
BLAST
Chaini27 – 401375Cartilage-associated proteinPRO_0000006319Add
BLAST

Amino acid modifications

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

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

ArrayExpressiO75718.
BgeeiO75718.
CleanExiHS_CRTAP.
GenevestigatoriO75718.

Organism-specific databases

HPAiHPA043598.
HPA044150.

Interactioni

Protein-protein interaction databases

BioGridi115754. 13 interactions.
IntActiO75718. 3 interactions.
STRINGi9606.ENSP00000323696.

Structurei

3D structure databases

ProteinModelPortaliO75718.
SMRiO75718. Positions 150-182.

Family & Domainsi

Sequence similaritiesi

Belongs to the leprecan family.

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG306541.
HOGENOMiHOG000247068.
HOVERGENiHBG005540.
InParanoidiO75718.
OMAiKRAQCLK.
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

MEPGRRGAAA LLALLCVACA LRAGRAQYER YSFRSFPRDE LMPLESAYRH    50
ALDKYSGEHW AESVGYLEIS LRLHRLLRDS EAFCHRNCSA APQPEPAAGL 100
ASYPELRLFG GLLRRAHCLK RCKQGLPAFR QSQPSREVLA DFQRREPYKF 150
LQFAYFKANN LPKAIAAAHT FLLKHPDDEM MKRNMAYYKS LPGAEDYIKD 200
LETKSYESLF IRAVRAYNGE NWRTSITDME LALPDFFKAF YECLAACEGS 250
REIKDFKDFY LSIADHYVEV LECKIQCEEN LTPVIGGYPV EKFVATMYHY 300
LQFAYYKLND LKNAAPCAVS YLLFDQNDKV MQQNLVYYQY HRDTWGLSDE 350
HFQPRPEAVQ FFNVTTLQKE LYDFAKENIM DDDEGEVVEY VDDLLELEET 400
S 401
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:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
Links Updated
AJ006470 mRNA. Translation: CAA07054.1 .
AK314719 mRNA. Translation: BAG37263.1 .
BC008745 mRNA. Translation: AAH08745.1 .
CCDSi CCDS2657.1.
RefSeqi NP_006362.1. NM_006371.4.
UniGenei Hs.517888.

3D structure databases

ProteinModelPortali O75718.
SMRi O75718. Positions 150-182.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115754. 13 interactions.
IntActi O75718. 3 interactions.
STRINGi 9606.ENSP00000323696.

PTM databases

PhosphoSitei O75718.

Proteomic databases

MaxQBi O75718.
PaxDbi O75718.
PRIDEi O75718.

Protocols and materials databases

DNASUi 10491.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000320954 ; ENSP00000323696 ; ENSG00000170275 .
GeneIDi 10491.
KEGGi hsa:10491.
UCSCi uc003cfl.4. human.

Organism-specific databases

CTDi 10491.
GeneCardsi GC03P033155.
HGNCi HGNC:2379. CRTAP.
HPAi HPA043598.
HPA044150.
MIMi 605497. gene.
610682. phenotype.
neXtProti NX_O75718.
Orphaneti 216804. Osteogenesis imperfecta type 2.
216812. Osteogenesis imperfecta type 3.
216820. Osteogenesis imperfecta type 4.
PharmGKBi PA26900.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG306541.
HOGENOMi HOG000247068.
HOVERGENi HBG005540.
InParanoidi O75718.
OMAi KRAQCLK.
OrthoDBi EOG7F7W8W.
PhylomeDBi O75718.
TreeFami TF320837.

Enzyme and pathway databases

Reactomei REACT_121139. Collagen biosynthesis and modifying enzymes.

Miscellaneous databases

ChiTaRSi CRTAP. human.
GeneWikii Cartilage_associated_protein.
GenomeRNAii 10491.
NextBioi 39808.
PROi O75718.
SOURCEi Search...

Gene expression databases

ArrayExpressi O75718.
Bgeei O75718.
CleanExi HS_CRTAP.
Genevestigatori O75718.

Family and domain databases

ProtoNeti Search...

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: September 3, 2014
This is version 110 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