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O75718

- CRTAP_HUMAN

UniProt

O75718 - CRTAP_HUMAN

Protein

Cartilage-associated protein

Gene

CRTAP

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 111 (01 Oct 2014)
      Sequence version 1 (01 Nov 1998)
      Previous versions | rss
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    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

    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

    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.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 – 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

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the leprecan family.Curated

    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

    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: October 1, 2014
    This is version 111 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