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O75718 (CRTAP_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 109. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Cartilage-associated protein
Gene names
Name:CRTAP
Synonyms:CASP
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length401 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Necessary for efficient 3-hydroxylation of fibrillar collagen prolyl residues. Ref.4

Subcellular location

Secretedextracellular spaceextracellular matrix By similarity.

Tissue specificity

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

Involvement in disease

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. Ref.4 Ref.6 Ref.7 Ref.8

Sequence similarities

Belongs to the leprecan family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2626 Potential
Chain27 – 401375Cartilage-associated protein
PRO_0000006319

Amino acid modifications

Glycosylation871N-linked (GlcNAc...) Potential
Glycosylation3631N-linked (GlcNAc...) Potential

Natural variations

Natural variant131A → E in OI7; severe form. Ref.8
VAR_063599
Natural variant671L → P in OI7. Ref.7
VAR_054442
Natural variant1371E → D. Ref.3
Corresponds to variant rs17850371 [ dbSNP | Ensembl ].
VAR_032846
Natural variant1571K → E in OI7; severe form. Ref.8
VAR_063600
Natural variant2611L → V.
Corresponds to variant rs1135127 [ dbSNP | Ensembl ].
VAR_053050

Sequences

Sequence LengthMass (Da)Tools
O75718 [UniParc].

Last modified November 1, 1998. Version 1.
Checksum: 4BEED4089195456F

FASTA40146,562
        10         20         30         40         50         60 
MEPGRRGAAA LLALLCVACA LRAGRAQYER YSFRSFPRDE LMPLESAYRH ALDKYSGEHW 

        70         80         90        100        110        120 
AESVGYLEIS LRLHRLLRDS EAFCHRNCSA APQPEPAAGL ASYPELRLFG GLLRRAHCLK 

       130        140        150        160        170        180 
RCKQGLPAFR QSQPSREVLA DFQRREPYKF LQFAYFKANN LPKAIAAAHT FLLKHPDDEM 

       190        200        210        220        230        240 
MKRNMAYYKS LPGAEDYIKD LETKSYESLF IRAVRAYNGE NWRTSITDME LALPDFFKAF 

       250        260        270        280        290        300 
YECLAACEGS REIKDFKDFY LSIADHYVEV LECKIQCEEN LTPVIGGYPV EKFVATMYHY 

       310        320        330        340        350        360 
LQFAYYKLND LKNAAPCAVS YLLFDQNDKV MQQNLVYYQY HRDTWGLSDE HFQPRPEAVQ 

       370        380        390        400 
FFNVTTLQKE LYDFAKENIM DDDEGEVVEY VDDLLELEET S 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta."
Morello R., Bertin T.K., Chen Y., Hicks J., Tonachini L., Monticone M., Castagnola P., Rauch F., Glorieux F.H., Vranka J., Baechinger H.P., Pace J.M., Schwarze U., Byers P.H., Weis M., Fernandes R.J., Eyre D.R., Yao Z., Boyce B.F., Lee B.
Cell 127:291-304(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INVOLVEMENT IN OI7.
[5]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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]"CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta."
Baldridge D., Schwarze U., Morello R., Lennington J., Bertin T.K., Pace J.M., Pepin M.G., Weis M., Eyre D.R., Walsh J., Lambert D., Green A., Robinson H., Michelson M., Houge G., Lindman C., Martin J., Ward J. expand/collapse author list , Lemyre E., Mitchell J.J., Krakow D., Rimoin D.L., Cohn D.H., Byers P.H., Lee B.
Hum. Mutat. 29:1435-1442(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT OI7 PRO-67.
[8]"CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis."
Van Dijk F.S., Nesbitt I.M., Nikkels P.G.J., Dalton A., Bongers E.M.H.F., van de Kamp J.M., Hilhorst-Hofstee Y., Den Hollander N.S., Lachmeijer A.M.A., Marcelis C.L., Tan-Sindhunata G.M.B., van Rijn R.R., Meijers-Heijboer H., Cobben J.M., Pals G.
Eur. J. Hum. Genet. 17:1560-1569(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS OI7 GLU-13 AND GLU-157.
+Additional computationally mapped references.

Web resources

Osteogenesis imperfecta variant database

Cartilage-associated protein (CRTAP)

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ006470 mRNA. Translation: CAA07054.1.
AK314719 mRNA. Translation: BAG37263.1.
BC008745 mRNA. Translation: AAH08745.1.
CCDSCCDS2657.1.
RefSeqNP_006362.1. NM_006371.4.
UniGeneHs.517888.

3D structure databases

ProteinModelPortalO75718.
SMRO75718. Positions 150-182.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115754. 13 interactions.
IntActO75718. 3 interactions.
STRING9606.ENSP00000323696.

PTM databases

PhosphoSiteO75718.

Proteomic databases

MaxQBO75718.
PaxDbO75718.
PRIDEO75718.

Protocols and materials databases

DNASU10491.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000320954; ENSP00000323696; ENSG00000170275.
GeneID10491.
KEGGhsa:10491.
UCSCuc003cfl.4. human.

Organism-specific databases

CTD10491.
GeneCardsGC03P033155.
HGNCHGNC:2379. CRTAP.
HPAHPA043598.
HPA044150.
MIM605497. gene.
610682. phenotype.
neXtProtNX_O75718.
Orphanet216804. Osteogenesis imperfecta type 2.
216812. Osteogenesis imperfecta type 3.
216820. Osteogenesis imperfecta type 4.
PharmGKBPA26900.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG306541.
HOGENOMHOG000247068.
HOVERGENHBG005540.
InParanoidO75718.
OMAKRAQCLK.
OrthoDBEOG7F7W8W.
PhylomeDBO75718.
TreeFamTF320837.

Enzyme and pathway databases

ReactomeREACT_118779. Extracellular matrix organization.

Gene expression databases

ArrayExpressO75718.
BgeeO75718.
CleanExHS_CRTAP.
GenevestigatorO75718.

Family and domain databases

ProtoNetSearch...

Other

ChiTaRSCRTAP. human.
GeneWikiCartilage_associated_protein.
GenomeRNAi10491.
NextBio39808.
PROO75718.
SOURCESearch...

Entry information

Entry nameCRTAP_HUMAN
AccessionPrimary (citable) accession number: O75718
Secondary accession number(s): B2RBL6
Entry history
Integrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: November 1, 1998
Last modified: July 9, 2014
This is version 109 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM