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Aliases for CRTAP Gene

Aliases for CRTAP Gene

  • Cartilage Associated Protein 2 3
  • CASP 3 4 6
  • Prolyl 3-Hydroxylase Family Member 5 (Non-Enzymatic) 2 3
  • Leprecan-Like 3 2 3
  • OI7 3 6
  • Cartilage-Associated Protein 3
  • LEPREL3 3
  • P3H5 3

External Ids for CRTAP Gene

Previous GeneCards Identifiers for CRTAP Gene

  • GC03P032462
  • GC03P033002
  • GC03P033127
  • GC03P033130
  • GC03P033155
  • GC03P033083

Summaries for CRTAP Gene

Entrez Gene Summary for CRTAP Gene

  • The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. [provided by RefSeq, Jul 2008]

GeneCards Summary for CRTAP Gene

CRTAP (Cartilage Associated Protein) is a Protein Coding gene. Diseases associated with CRTAP include osteogenesis imperfecta, type vii and crtap-related osteogenesis imperfecta. Among its related pathways are Degradation of the extracellular matrix and Collagen biosynthesis and modifying enzymes. An important paralog of this gene is P3H4.

UniProtKB/Swiss-Prot for CRTAP Gene

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

Gene Wiki entry for CRTAP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CRTAP Gene

Genomics for CRTAP Gene

Regulatory Elements for CRTAP Gene

Genomic Location for CRTAP Gene

Start:
33,113,958 bp from pter
End:
33,147,773 bp from pter
Size:
33,816 bases
Orientation:
Plus strand

Genomic View for CRTAP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CRTAP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CRTAP Gene

Proteins for CRTAP Gene

  • Protein details for CRTAP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75718-CRTAP_HUMAN
    Recommended name:
    Cartilage-associated protein
    Protein Accession:
    O75718
    Secondary Accessions:
    • B2RBL6

    Protein attributes for CRTAP Gene

    Size:
    401 amino acids
    Molecular mass:
    46562 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CRTAP Gene

Proteomics data for CRTAP Gene at MOPED

Post-translational modifications for CRTAP Gene

  • Glycosylation at Asn87 and Asn363
  • Modification sites at PhosphoSitePlus

Other Protein References for CRTAP Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CRTAP Gene

Domains for CRTAP Gene

Protein Domains for CRTAP Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O75718

UniProtKB/Swiss-Prot:

CRTAP_HUMAN :
  • O75718
Family:
  • Belongs to the leprecan family.
genes like me logo Genes that share domains with CRTAP: view

No data available for Gene Families for CRTAP Gene

Function for CRTAP Gene

Molecular function for CRTAP Gene

UniProtKB/Swiss-Prot Function: Necessary for efficient 3-hydroxylation of fibrillar collagen prolyl residues.

Gene Ontology (GO) - Molecular Function for CRTAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032403 protein complex binding ISS --
genes like me logo Genes that share ontologies with CRTAP: view

Phenotypes for CRTAP Gene

genes like me logo Genes that share phenotypes with CRTAP: view

Animal Models for CRTAP Gene

MGI Knock Outs for CRTAP:

miRNA for CRTAP Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for CRTAP Gene

Localization for CRTAP Gene

Subcellular locations from UniProtKB/Swiss-Prot for CRTAP Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CRTAP Gene COMPARTMENTS Subcellular localization image for CRTAP gene
Compartment Confidence
endoplasmic reticulum 4
extracellular 2
golgi apparatus 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CRTAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005615 extracellular space IDA 19846465
GO:0005783 endoplasmic reticulum IDA 19846465
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0032991 macromolecular complex ISS --
genes like me logo Genes that share ontologies with CRTAP: view

Pathways for CRTAP Gene

genes like me logo Genes that share pathways with CRTAP: view

Pathways by source for CRTAP Gene

Gene Ontology (GO) - Biological Process for CRTAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007283 spermatogenesis IEA --
GO:0018400 peptidyl-proline hydroxylation to 3-hydroxy-L-proline IEA --
GO:0030198 extracellular matrix organization TAS --
GO:0050821 protein stabilization IMP 19846465
GO:0061077 chaperone-mediated protein folding ISS --
genes like me logo Genes that share ontologies with CRTAP: view

Transcripts for CRTAP Gene

mRNA/cDNA for CRTAP Gene

(13) Additional mRNA sequences :
(15) Selected AceView cDNA sequences:
(1) REFSEQ mRNAs :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CRTAP Gene

Cartilage associated protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CRTAP Gene

No ASD Table

Relevant External Links for CRTAP Gene

GeneLoc Exon Structure for
CRTAP
ECgene alternative splicing isoforms for
CRTAP

Expression for CRTAP Gene

mRNA expression in normal human tissues for CRTAP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CRTAP Gene

SOURCE GeneReport for Unigene cluster for CRTAP Gene Hs.517888

mRNA Expression by UniProt/SwissProt for CRTAP Gene

O75718-CRTAP_HUMAN
Tissue specificity: Found in articular chondrocytes. Expressed in a variety of tissues
genes like me logo Genes that share expressions with CRTAP: view

No data available for mRNA differential expression in normal tissues for CRTAP Gene

Orthologs for CRTAP Gene

This gene was present in the common ancestor of animals.

Orthologs for CRTAP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CRTAP 35
  • 99.5 (n)
  • 99.5 (a)
CRTAP 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CRTAP 35
  • 90.19 (n)
  • 95.26 (a)
CRTAP 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CRTAP 35
  • 91.6 (n)
  • 92.77 (a)
CRTAP 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Crtap 35
  • 87.44 (n)
  • 91.78 (a)
Crtap 16
Crtap 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CRTAP 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CRTAP 36
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC102555086 35
  • 86.16 (n)
  • 91.27 (a)
chicken
(Gallus gallus)
Aves CRTAP 35
  • 79.15 (n)
  • 78.88 (a)
CRTAP 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CRTAP 36
  • 78 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.24676 35
tropical clawed frog
(Silurana tropicalis)
Amphibia crtap 35
  • 71.82 (n)
  • 74.13 (a)
Str.12426 35
zebrafish
(Danio rerio)
Actinopterygii crtap 35
  • 69.88 (n)
  • 69.17 (a)
crtap 36
  • 66 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003898 35
  • 46.34 (n)
  • 29.06 (a)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y73F8A.26 35
  • 43.52 (n)
  • 26.22 (a)
Y73F8A.26 36
  • 19 (a)
OneToMany
Y73F8A.26 37
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 29 (a)
OneToMany
Species with no ortholog for CRTAP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CRTAP Gene

ENSEMBL:
Gene Tree for CRTAP (if available)
TreeFam:
Gene Tree for CRTAP (if available)

Paralogs for CRTAP Gene

Paralogs for CRTAP Gene

Selected SIMAP similar genes for CRTAP Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CRTAP: view

Variants for CRTAP Gene

Sequence variations from dbSNP and Humsavar for CRTAP Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs13211 -- 33,144,753(+) GAGAA(C/G)CAACA utr-variant-3-prime
rs13637 -- 33,130,033(+) GCTAC(C/T)ATGTA reference, synonymous-codon
rs1127898 -- 33,144,864(+) TGTGG(C/T)GTTCT utr-variant-3-prime
rs1132392 -- 33,145,933(+) GACCC(A/G)GGTGA utr-variant-3-prime
rs1135127 - 33,132,664(+) GACAC(G/T)TGGGG synonymous-codon, reference

Structural Variations from Database of Genomic Variants (DGV) for CRTAP Gene

Variant ID Type Subtype PubMed ID
esv1292944 OTHER Inversion 17803354

Relevant External Links for CRTAP Gene

HapMap Linkage Disequilibrium report
CRTAP
Human Gene Mutation Database (HGMD)
CRTAP
Locus Specific Mutation Databases (LSDB)
CRTAP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CRTAP Gene

Disorders for CRTAP Gene

(1) OMIM Diseases for CRTAP Gene (605497)

UniProtKB/Swiss-Prot

CRTAP_HUMAN
  • 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. {ECO:0000269 PubMed:17055431, ECO:0000269 PubMed:18566967, ECO:0000269 PubMed:19550437, ECO:0000269 PubMed:21955071}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for CRTAP Gene

Relevant External Links for CRTAP

Genetic Association Database (GAD)
CRTAP
Human Genome Epidemiology (HuGE) Navigator
CRTAP
genes like me logo Genes that share disorders with CRTAP: view

Publications for CRTAP Gene

  1. cDNA cloning, characterization and chromosome mapping of the gene encoding human cartilage associated protein (CRTAP). (PMID: 10702664) Tonachini L. … Castagnola P. (Cytogenet. Cell Genet. 1999) 3 4 23
  2. CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. (PMID: 18566967) Baldridge D. … Lee B. (Hum. Mutat. 2008) 3 4 23
  3. CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis. (PMID: 19550437) Van Dijk F.S. … Pals G. (Eur. J. Hum. Genet. 2009) 3 4 23
  4. Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex. (PMID: 19846465) Chang W. … Marini J.C. (Hum. Mol. Genet. 2010) 3 23
  5. Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta. (PMID: 19862557) Marini J.C. … Barnes A.M. (Cell Tissue Res. 2010) 3 23

Products for CRTAP Gene

Sources for CRTAP Gene

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