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Aliases for CRTAP Gene

Aliases for CRTAP Gene

  • Cartilage Associated Protein 2 3 5
  • Prolyl 3-Hydroxylase Family Member 5 (Non-Enzymatic) 2 3
  • Leprecan-Like 3 2 3
  • CASP 3 4
  • Cartilage-Associated Protein 3
  • LEPREL3 3
  • P3H5 3
  • OI7 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 Osteogenesis Imperfecta, Type Ii. Among its related pathways are Collagen biosynthesis and modifying enzymes and Degradation of the extracellular matrix. GO annotations related to this gene include protein complex binding. 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

Enhancers for CRTAP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F033088 1 Ensembl ENCODE 19.9 -24.8 -24808 2.3 CTCF ESRRA USF1 TBL1XR1 RAD21 TEAD3 ZNF143 SMC3 ETV6 CREM CRTAP PDCD6IP ENSG00000236732 GLB1 GC03P033091 SUMO2P10
GH03F033113 1.1 ENCODE 14.8 +0.7 749 3.1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 FOS ZNF263 SP3 CRTAP PDCD6IP TMPPE GLB1 ENSG00000271643 ENSG00000236732 ENSG00000271020 GC03P033114 PIR55934
GH03F033060 0.8 ENCODE 19.8 -53.2 -53217 1.3 ELF3 HDGF SOX13 BCOR ARNT ARID4B CEBPG YBX1 YY1 ZNF316 GLB1 CRTAP PDCD6IP TMPPE ENSG00000236732 SUGT1P2 CNOT10-AS1 CNOT10 SUMO2P10 SEC13P1
GH03F033054 1.4 Ensembl ENCODE 8.7 -58.9 -58892 1.9 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 TMPPE GLB1 SUGT1P2 CNOT10-AS1 CNOT10 UBP1 CRTAP SEC13P1 SUMO2P10
GH03F033061 0.6 ENCODE 18.5 -51.0 -50965 2.1 ZNF121 JUND USF1 ZMYM3 CEBPB JUNB GLB1 CRTAP TMPPE SUGT1P2 CNOT10-AS1 CNOT10 SUMO2P10 SEC13P1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CRTAP on UCSC Golden Path with GeneCards custom track

Promoters for CRTAP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001360751 742 3001 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 FOS SP3 SP5 JUNB

Genomic Location for CRTAP Gene

Chromosome:
3
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

Genes around CRTAP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CRTAP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for CRTAP Gene

  • Glycosylation at Asn 87 and Asn 363
  • Modification sites at PhosphoSitePlus

Other Protein References for CRTAP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CRTAP Gene

Domains & Families for CRTAP Gene

Protein Domains for CRTAP Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O75718

UniProtKB/Swiss-Prot:

CRTAP_HUMAN :
  • Belongs to the leprecan family.
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

Human Phenotype Ontology for CRTAP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CRTAP Gene

MGI Knock Outs for CRTAP:

Animal Model Products

  • Taconic Biosciences Mouse Models for CRTAP

miRNA for CRTAP Gene

miRTarBase miRNAs that target CRTAP

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CRTAP gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
cytoskeleton 2
cytosol 2
lysosome 1
golgi apparatus 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 IEA,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 & Interactions 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:0050821 protein stabilization IMP 19846465
GO:0061077 chaperone-mediated protein folding ISS --
GO:1901874 negative regulation of post-translational protein modification IMP 19846465
genes like me logo Genes that share ontologies with CRTAP: view

No data available for SIGNOR curated interactions for CRTAP Gene

Transcripts for CRTAP Gene

mRNA/cDNA for CRTAP Gene

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

Unigene Clusters for CRTAP Gene

Cartilage associated protein:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for CRTAP Gene

Protein differential expression in normal tissues from HIPED for CRTAP Gene

This gene is overexpressed in Bone (29.2), Bone marrow stromal cell (10.7), and Fetal testis (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CRTAP Gene



Protein tissue co-expression partners for CRTAP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CRTAP Gene:

CRTAP

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 expression patterns with CRTAP: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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 34 35
  • 99.5 (n)
dog
(Canis familiaris)
Mammalia CRTAP 34 35
  • 91.6 (n)
cow
(Bos Taurus)
Mammalia CRTAP 34 35
  • 90.19 (n)
mouse
(Mus musculus)
Mammalia Crtap 34 16 35
  • 87.44 (n)
rat
(Rattus norvegicus)
Mammalia LOC102555086 34
  • 86.16 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CRTAP 35
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CRTAP 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves CRTAP 34 35
  • 79.15 (n)
lizard
(Anolis carolinensis)
Reptilia CRTAP 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia crtap 34
  • 71.82 (n)
Str.12426 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.24676 34
zebrafish
(Danio rerio)
Actinopterygii crtap 34 35
  • 69.88 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003898 34
  • 46.34 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y73F8A.26 34
  • 43.52 (n)
Y73F8A.26 36 35
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 29 (a)
OneToMany
Species where no ortholog for CRTAP was found in the sources mined by GeneCards:
  • 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

(3) 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
rs137853938 Osteogenesis imperfecta 7 (OI7) [MIM:610682] 33,114,115(+) GCTAG(A/C)GCTGC reference, missense
rs137853942 Osteogenesis imperfecta 7 (OI7) [MIM:610682] 33,114,546(+) ACTTC(A/C/G)AGGCA reference, missense
rs72659358 Osteogenesis imperfecta 7 (OI7) [MIM:610682] 33,114,277(+) CTACC(C/T)GGAGA reference, missense
rs137853943 Pathogenic 33,114,550(+) CAAGG(A/C)AAGTC splice-donor-variant
rs387907333 Pathogenic 33,114,195(+) GGGAC(GAGCTGATGCCGCTCG/TACCC)AGTCG reference, frameshift-variant

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

Variant ID Type Subtype PubMed ID
esv1292944 OTHER inversion 17803354
nsv1003285 CNV gain 25217958
nsv590050 CNV loss 21841781

Variation tolerance for CRTAP Gene

Residual Variation Intolerance Score: 78.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.89; 79.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CRTAP Gene

Human Gene Mutation Database (HGMD)
CRTAP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CRTAP

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

Disorders for CRTAP Gene

MalaCards: The human disease database

(11) MalaCards diseases for CRTAP Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
osteogenesis imperfecta, type vii
  • osteogenesis imperfecta type 7
osteogenesis imperfecta, type ii
  • osteogenesis imperfecta type 2
crtap-related osteogenesis imperfecta
  • crtap-related oi
osteogenesis imperfecta, type iii
  • osteogenesis imperfecta type 3
osteogenesis imperfecta, type iv
  • osteogenesis imperfecta type 4
- elite association - COSMIC cancer census association via MalaCards
Search CRTAP in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for CRTAP

Genetic Association Database (GAD)
CRTAP
Human Genome Epidemiology (HuGE) Navigator
CRTAP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CRTAP
genes like me logo Genes that share disorders with CRTAP: view

No data available for Genatlas for CRTAP Gene

Publications for CRTAP Gene

  1. 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 22 64
  2. CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. (PMID: 18566967) Baldridge D. … Lee B. (Hum. Mutat. 2008) 3 4 22 64
  3. 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 22 64
  4. Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta. (PMID: 19862557) Marini J.C. … Barnes A.M. (Cell Tissue Res. 2010) 3 22 64
  5. Role of cartilage-associated protein in skeletal development. (PMID: 20425614) Morello R. … Rauch F. (Curr Osteoporos Rep 2010) 3 22 64

Products for CRTAP Gene

Sources for CRTAP Gene

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