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CRTAP Gene

protein-coding   GIFtS: 59
GCID: GC03P033155

Cartilage Associated Protein

  See CRTAP-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cartilage Associated Protein1 2
CASP2 3 5
Leprecan-Like 31 2
OI72 5
LEPREL32
Cartilage-Associated Protein2

External Ids:    HGNC: 23791   Entrez Gene: 104912   Ensembl: ENSG000001702757   OMIM: 6054975   UniProtKB: O757183   

Export aliases for CRTAP gene to outside databases

Previous GC identifers: GC03P032462 GC03P033002 GC03P033127 GC03P033130 GC03P033083


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 crtap-related osteogenesis imperfecta, and osteogenesis imperfecta type 7. An important paralog of this gene is LEPRE1.

UniProtKB/Swiss-Prot: CRTAP_HUMAN, O75718
Function: Necessary for efficient 3-hydroxylation of fibrillar collagen prolyl residues

Gene Wiki entry for CRTAP (Cartilage associated protein) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_022517.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the CRTAP gene promoter:
         Sp1   NRSF form 1   NRSF form 2   Nkx5-1   HEN1   RORalpha1   POU2F1   HSF2   POU2F1a   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCRTAP promoter sequence
   Search Chromatin IP Primers for CRTAP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CRTAP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p22.3   Ensembl cytogenetic band:  3p22.3   HGNC cytogenetic band: 3p22

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

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P033155:  view genomic region     (about GC identifiers)

Start:
33,155,450 bp from pter      End:
33,189,265 bp from pter
Size:
33,816 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CRTAP_HUMAN, O75718 (See protein sequence)
Recommended Name: Cartilage-associated protein precursor  
Size: 401 amino acids; 46562 Da
Secondary accessions: B2RBL6

Explore the universe of human proteins at neXtProt for CRTAP: NX_O75718

Explore proteomics data for CRTAP at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn87, Asn363
  • Modification sites at PhosphoSitePlus

  • See CRTAP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006362.1  
    ENSEMBL proteins: 
     ENSP00000323696   ENSP00000409997  
    Reactome Protein details: O75718

    CRTAP Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    ProtoNet protein and cluster: O75718

    UniProtKB/Swiss-Prot: CRTAP_HUMAN, O75718
    Similarity: Belongs to the leprecan family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CRTAP_HUMAN, O75718
    Function: Necessary for efficient 3-hydroxylation of fibrillar collagen prolyl residues

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0032403protein complex binding ISS--
         
    Find genes that share ontologies with CRTAP           About GenesLikeMe


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Crtap):
     growth/size/body  skeleton 

    Find genes that share phenotypes with CRTAP           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Crtaptm1Brle for CRTAP

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CRTAP
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CRTAP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CRTAP
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CRTAP

    miRNA
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    miRTarBase miRNAs that target CRTAP:
    hsa-mir-7-5p (MIRT025763), hsa-mir-98-5p (MIRT027681), hsa-mir-296-3p (MIRT038419), hsa-mir-484 (MIRT041994), hsa-mir-1296-5p (MIRT036134)

    Block miRNA regulation of human, mouse, rat CRTAP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CRTAP (see all 85):
    hsa-miR-194* hsa-miR-3138 hsa-miR-3921 hsa-miR-877* hsa-miR-629 hsa-miR-3116 hsa-miR-29a* hsa-miR-200b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Predesigned siRNA for gene silencing in human, mouse, rat CRTAP

    Gene Editing
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRTAP


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CRTAP_HUMAN, O75718: Secreted, extracellular space, extracellular matrix (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum4
    extracellular2
    golgi apparatus1
    lysosome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0005615extracellular space IDA19846465
    GO:0005783endoplasmic reticulum IDA19846465
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0032991macromolecular complex ISS--

    Find genes that share ontologies with CRTAP           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CRTAP About    
    See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Collagen biosynthesis and modifying enzymes0.75
    Collagen formation0.75
    2Degradation of the extracellular matrix
    Extracellular matrix organization0.34


    Find genes that share SuperPaths with CRTAP           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for CRTAP
        Collagen biosynthesis and modifying enzymes


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CRTAP
    Interactions:

        GeneGlobe Interaction Network for CRTAP

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5 Interacting proteins for CRTAP (O757183 ENSP000003236964) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    WDR48Q8TAF33, ENSP000003074914I2D: score=2 STRING: ENSP00000307491
    SERPINH1ENSP000003508944STRING: ENSP00000350894
    UBCENSP000003448184STRING: ENSP00000344818
    PPIBENSP000003000264STRING: ENSP00000300026
    LEPRE1ENSP000002963884STRING: ENSP00000296388
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007283spermatogenesis IEA--
    GO:0018400peptidyl-proline hydroxylation to 3-hydroxy-L-proline IEA--
    GO:0030198extracellular matrix organization TAS--
    GO:0050821protein stabilization IMP19846465
    GO:0061077chaperone-mediated protein folding ISS--

    Find genes that share ontologies with CRTAP           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CRTAP



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CRTAP gene: 
    NM_006371.4  

    Unigene Cluster for CRTAP:

    Cartilage associated protein
    Hs.517888  [show with all ESTs]
    Unigene Representative Sequence: NM_006371
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000320954(uc003cfl.4 uc010hfz.3 uc003cfn.3) ENST00000449224
    ENST00000485310
    miRNA
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    Block miRNA regulation of human, mouse, rat CRTAP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CRTAP (see all 85):
    hsa-miR-194* hsa-miR-3138 hsa-miR-3921 hsa-miR-877* hsa-miR-629 hsa-miR-3116 hsa-miR-29a* hsa-miR-200b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CRTAP
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    Primer
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    OriGene qPCR primer pairs and template standards for CRTAP
    OriGene qSTAR qPCR primer pairs in human, mouse for CRTAP
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CRTAP
      QuantiTect SYBR Green Assays in human, mouse, rat CRTAP
      QuantiFast Probe-based Assays in human, mouse, rat CRTAP

    Additional mRNA sequence: 

    AJ006470.1 AK001634.1 AK027235.1 AK075401.1 AK092990.1 AK097650.1 AK126433.1 AK298250.1 
    AK314719.1 AL110145.1 BC008745.2 BC073904.1 BC094866.1 

    Selected DOTS entries (see all 31):

    DT.210017  DT.91783090  DT.91783053  DT.120890865  DT.91783059  DT.86846860  DT.455969  DT.100648099 
    DT.120890869  DT.97843248  DT.120890846  DT.120890881  DT.120890898  DT.100648093  DT.100059481  DT.100642227 
    DT.100642235  DT.95162034  DT.100648094  DT.120890861  DT.95162038  DT.100052798  DT.100642234  DT.100874576 

    15 AceView cDNA sequences:

    CR618116 CR594104 CR622212 CR597717 CR613224 CR625365 AK091772 AK126433 
    AJ006470 AK075401 AK001634 BC008745 NM_006371 AK092990 AK097650 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CRTAP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCATAGCTG
    CRTAP Expression
    About this image


    CRTAP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 21) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Kidney (Urinary System)
             Metanephros
     
     Ovary (Reproductive System)
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    CRTAP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CRTAP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.517888

    UniProtKB/Swiss-Prot: CRTAP_HUMAN, O75718
    Tissue specificity: Found in articular chondrocytes. Expressed in a variety of tissues

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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CRTAP gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Crtap1 , 5 cartilage associated protein1, 5 87.44(n)1
    91.78(a)1
      9 (64.39 cM)5
    566931  NM_019922.21  NP_064306.21 
     1143751345 
    chicken
    (Gallus gallus)
    Aves CRTAP1 cartilage associated protein 79.15(n)
    78.88(a)
      395992  NM_205100.1  NP_990431.1 
    lizard
    (Anolis carolinensis)
    Reptilia CRTAP6
    cartilage associated protein
    78(a)
    1 ↔ 1
    GL343324.1(693380-716761)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.246762 Xenopus laevis transcribed sequence with moderate similarity more 79.26(n)    CB563015.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CD778165.12   -- 72.25(n)    CD778165.1 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0038981 AgaP_AGAP003898 46.34(n)
    29.06(a)
      5667501  XM_001687790.2  XP_001687842.2 
    worm
    (Caenorhabditis elegans)
    Secernentea Y73F8A.263
    CELE_Y73F8A.261
    CELE_Y73F8A.261 24(a)3
    43.52(n)1
    26.22(a)1
      IV(15473896-15477219)3
    1784351  NM_070461.41  NP_502862.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CRTAP gene
    LEPRE12  LEPREL22  LEPREL12  LEPREL42  
    3 SIMAP similar genes for CRTAP using alignment to 3 protein entries:     CRTAP_HUMAN (see all proteins):
    LEPREL4    LEPRE1    LEPREL1

    Find genes that share paralogs with CRTAP           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CRTAP (see all 816)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0635994
    Osteogenesis imperfecta 7 (OI7)4--see VAR_0635992 A E mis40--------
    VAR_0544424
    Osteogenesis imperfecta 7 (OI7)4--see VAR_0544422 L P mis40--------
    VAR_0636004
    Osteogenesis imperfecta 7 (OI7)4--see VAR_0636002 K E mis40--------
    rs726593571,2
    Cpathogenic133088661(+) GCGATA/GGAGCC 2 I M mis10--------
    rs726593611,2
    Cpathogenic133104553(+) AAATAC/TAGTGT 2 Q * stg11Minor allele frequency- T:0.01WA 216
    rs743151541,2
    Cuntested133088682(+) GGGGC-/CGC   
       GGCGC
    TGCTA
    2 S AL fra10--------
    rs726593581,2
    Cuntested133088858(+) CTACCC/TGGAGA 2 P L mis10--------
    rs726593591,2
    Cuntested133089130(+) TCAAGC/GCAAGT 1 -- spd10--------
    rs726593601,2
    Cuntested133093904(+) CACAGC/GTGGGT 1 -- int10--------
    rs40760861,2
    C,F,Huntested133094987(-) ATTTCG/ATCATC 2 /D syn1 ese341Minor allele frequency- A:0.24NS EA NA MN WA CSA EU 10404

    HapMap Linkage Disequilibrium report for CRTAP (33155450 - 33189265 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CRTAP:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1292944OTHER Inversion17803354

    Human Gene Mutation Database (HGMD): CRTAP
    Locus Specific Mutation Databases (LSDB): CRTAP

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CRTAP
    DNA2.0 Custom Variant and Variant Library Synthesis for CRTAP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605497   
    OMIM disorders: 610682  
    UniProtKB/Swiss-Prot: CRTAP_HUMAN, O75718
  • 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

  • 8 diseases for CRTAP:    
    About MalaCards
    crtap-related osteogenesis imperfecta    osteogenesis imperfecta type 7    mucopolysaccharidosis iv    osteogenesis imperfecta type 4
    osteogenesis imperfecta    osteogenesis imperfecta type iii    osteogenesis imperfecta, type ii    dentinogenesis imperfecta

    3 diseases from the University of Copenhagen DISEASES database for CRTAP:
    Osteogenesis imperfecta     Dentinogenesis imperfecta     Mucopolysaccharidosis IV

    Find genes that share disorders with CRTAP           About GenesLikeMe

    Genetic Association Database (GAD): CRTAP
    Human Genome Epidemiology (HuGE) Navigator: CRTAP (1 document)

    Export disorders for CRTAP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CRTAP gene, integrated from 10 sources (see all 37):
    (articles sorted by number of sources associating them with CRTAP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis. (PubMed id 19550437)1, 2, 9 Van Dijk F.S.... Pals G. (Eur. J. Hum. Genet. 2009)
    2. cDNA cloning, characterization and chromosome mapping of the gene encoding human cartilage associated protein (CRTAP). (PubMed id 10702664)1, 2, 9 Tonachini L.... Castagnola P. (Cytogenet. Cell Genet. 1999)
    3. CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. (PubMed id 18566967)1, 2, 9 Baldridge D.... Lee B. (Hum. Mutat. 2008)
    4. Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women. (PubMed id 19727905)1, 4 Li G.H....Huang Q.Y. (Osteoporos Int 2010)
    5. CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta. (PubMed id 17055431)1, 2 Morello R.... Lee B. (Cell 2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. cDNA cloning, characterization and chromosome mapping of Crtap encoding the mouse cartilage associated protein. (PubMed id 10429950)1, 3 Morello R....Castagnola P. (Matrix Biol. 1999)
    9. Cartilage associated protein (CASP) is a novel developmentally regulated chick embryo protein. (PubMed id 9217321)1, 3 Castagnola P....Cancedda R. (J. Cell. Sci. 1997)
    10. Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex. (PubMed id 19846465)1, 9 Chang W....Marini J.C. (Hum. Mol. Genet. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10491 HGNC: 2379 AceView: CRTAP Ensembl:ENSG00000170275 euGenes: HUgn10491
    ECgene: CRTAP H-InvDB: CRTAP

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CRTAP Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CRTAP[genesymbol]
    Osteogenesis imperfecta variant databasehttp://oi.gene.le.ac.uk/home.php?select_db=CRTAP

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CRTAP gene:
    Search GeneIP for patents involving CRTAP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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