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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CRTAP Gene

protein-coding   GIFtS: 55
GCID: GC03P033155

cartilage associated protein
 Explore 11 diseases affiliated with
CRTAP via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CRTAP    

Aliases
for CRTAP gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Cartilage Associated Protein1 2
CASP1 2 3 5
LEPREL31 2
OI72
Cartilage-Associated Protein2
Leprecan-Like 32

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


Summaries
for CRTAP gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for CRTAP:
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)

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)


Genomic Views
for CRTAP 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_022517.18  
Regulatory elements:
   SABiosciences 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 plasmid: CRTAP promoter sequence
   Search SABiosciences Chromatin IP Primers for CRTAP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for CRTAP gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: CRTAP_HUMAN, O75718 (See protein sequence)
Recommended Name: Cartilage-associated protein precursor  
Size: 401 amino acids; 46562 Da
Subcellular location: Secreted, extracellular space, extracellular matrix (By similarity)
Secondary accessions: B2RBL6

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O75718

    • CRTAP Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_006362.1  
    ENSEMBL proteins: 
     ENSP00000323696   ENSP00000409997  
    Reactome Protein details: O75718
    Human Recombinant Protein Products: 
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    OriGene Purified Protein: CRTAP
    OriGene Protein Over-expression Lysate: CRTAP
    OriGene Custom Protein Services for CRTAP 
    GenScript Custom Purified and Recombinant Proteins Services for CRTAP
    Novus Biologicals CRTAP Protein
    Novus Biologicals CRTAP Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CRTAP

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0005788endoplasmic reticulum lumen TAS--


    CRTAP for ontologies           About GeneDecksing



    CRTAP Antibody Products: 
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    Uscn Antibodies for CRTAP
    ThermoFisher Antibodies for CRTAP

    Assay Products for CRTAP: 
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    Uscn ELISAs and CLIAs for CRTAP

    Protein Domains /
    Families
    for CRTAP gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: O75718

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


    Function
    for CRTAP gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CRTAP
    8/85 QIAGEN miScript miRNA 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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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CRTAP (see all 7)
    OriGene shRNA RFP: CRTAP
    OriGene siRNA: CRTAP
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CRTAP

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for CRTAP

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CRTAP (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CRTAP
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: CRTAP (NM_006371)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CRTAP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CRTAP 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for CRTAP
    Search LifeMap BioReagents cell lines for CRTAP

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRTAP

    Animal Models:
         Mouse knock-out Crtaptm1Brle for CRTAP
         2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Crtap):
     growth/size  skeleton 

    CRTAP for phenotypes           About GeneDecksing


    Pathways & Interactions
    for CRTAP gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Collagen formation
    		Collagen formation1.00
    		Extracellular matrix organization0.54
    		Collagen biosynthesis and modifying enzymes0.74

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    3        Reactome Pathways for CRTAP
        Extracellular matrix organization
    Collagen biosynthesis and modifying enzymes
    Collagen formation



    CRTAP for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins 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
    LEPRE1ENSP000002963884STRING: ENSP00000296388
    PPIBENSP000003000264STRING: ENSP00000300026
    SERPINH1ENSP000003508944STRING: ENSP00000350894
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    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--


    CRTAP for ontologies           About GeneDecksing



    Drugs & Compounds
    for CRTAP gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CRTAP
    Search CenterWatch for drugs/clinical trials and news about CRTAP 

    Transcripts
    for CRTAP gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    Products:             		 OriGene 3'-UTR Clone: CRTAP
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CRTAP
    8/85 QIAGEN miScript miRNA 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
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CRTAP (see all 7)
    OriGene shRNA RFP: CRTAP
    OriGene siRNA: CRTAP
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CRTAP
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CRTAP (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CRTAP
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: CRTAP (NM_006371)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CRTAP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CRTAP 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CRTAP
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CRTAP
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CRTAP
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CRTAP

    Additional cDNA 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 

    24/31 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:

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

    GeneLoc Exon Structure


    Expression
    for CRTAP gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CRTAP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTCATAGCTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CRTAP expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyMetanephrosKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CRTAP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CRTAP

    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

        SABiosciences Custom PCR Arrays for CRTAP
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRTAP

    Orthologs
    for CRTAP gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for CRTAP gene from 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves CRTAP1 cartilage associated protein 78.29(n)
    78.29(a)    		   395992  NM_205100.1  NP_990431.1 
    lizard
    (Anolis carolinensis)    		 Reptilia CRTAP6
    		 --
    		 78(a)
    		 1 ↔ 1
    		 GL343324.1(693380-713602)
    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 AGAP003898-PA 46.25(n)
    29.06(a)    		   5667501  XM_001687790.1  XP_001687842.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea Y73F8A.263
    CELE_Y73F8A.261    		 Protein Y73F8A.261 24(a)3
    43.52(n)1
    26.22(a)1    		   IV(15473896-15477219)3
    1784351  NM_070461.31  NP_502862.11 


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

    Paralogs
    for CRTAP gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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

    CRTAP for paralogs           About GeneDecksing



    Genomic Variants
    for CRTAP gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/534 NCBI SNPs in CRTAP are shown (see all 534)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs726593571,2
    		Cpathogenic33155572(+) GCGATA/GGAGCC 2 I M mis10--------
    rs743151541,2
    		Cuntested33155593(+) GGGGC-/CGC   
       GGCGC    TGCTA     		2 AA AAAL fra10--------
    rs726593581,2
    		Cuntested33155769(+) CTACCC/TGGAGA 2 P L mis10--------
    rs726593591,2
    		Cuntested33156041(+) TCAAGC/GCAAGT 1 -- spd10--------
    rs1838585801,2
    		--33153471(+) GTATAC/GCATAT 1 -- us2k10--------
    rs1180726681,2
    		--33153586(+) TTTACT/AGTCTC 1 -- us2k11Minor allele frequency- A:0.01EA 120
    rs1882340911,2
    		--33153594(+) CTCCAC/TAGTTT 1 -- us2k10--------
    rs1813978831,2
    		--33153638(+) CACAGC/TATGTA 1 -- us2k10--------
    rs1865526661,2
    		--33153829(+) ATTGTC/GAATAA 1 -- us2k10--------
    rs1423833041,2
    		--33153905(+) AAGTGA/CAATTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CRTAP (33155450 - 33189265 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CRTAP: --
    Human Gene Mutation Database (HGMD): CRTAP

    Locus Specific Mutation Databases (LSDB): CRTAP

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CRTAP
    DNA2.0 Custom Variant and Variant Library Synthesis for CRTAP

    Disorders / Diseases
    for CRTAP gene

    (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.)
    About This Section
    CRTAP for disorders           About GeneDecksing

    OMIM gene information: 605497   
    OMIM disorders: 610854  610682  
    UniProtKB/Swiss-Prot: CRTAP_HUMAN, O75718
  • Defects in CRTAP are the cause of osteogenesis imperfecta type 7 (OI7) [MIM:610682]. A connective tissue
    • disorder characterized by short stature, short humeri and femora, coxa vara, white sclera, and the absence of
    dentinogenesis imperfecta. Multiple fractures are present at birth, and patients manifest moderate-severe bone
    fragility. Death may occurr in the perinatal period due to secondary respiratory insufficiency

    11 diseases for CRTAP:    About MalaCards
    osteogenesis imperfecta    osteogenesis imperfecta type iib    osteogenesis imperfecta type 7    osteogenesis imperfecta, type ii
    mucopolysaccharidosis iv    dentinogenesis imperfecta    cervical incompetence    short stature
    mucopolysaccharidosis    osteoporosis    cervicitis

    3 diseases from the University of Copenhagen DISEASES database for CRTAP:
    Osteogenesis imperfecta     Dentinogenesis imperfecta     Mucopolysaccharidosis IV
    Human Genome Epidemiology (HuGE) Navigator: CRTAP (1 document)

    Export disorders for CRTAP gene to outside databases

    Publications
    for CRTAP gene

    (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)
    About This Section

    PubMed articles for CRTAP gene, integrated from 9 sources (see all 34):
    (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 imp erfecta: the importance of combining biochemical and molecular genetic analysis . (PubMed id 19550437)1, 2, 9 Van Dijk F.S....Pals G. (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. (1999)
    3. CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. (PubMed id 18566967)1, 2, 9 Baldridge D....Lee B. (2008)
    4. CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. (PubMed id 17055431)1, 2 Morello R.... Lee B. (2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. 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. (2004)
    7. cDNA cloning, characterization and chromosome mapping of Crtap encoding the mouse cartilage associated protein. (PubMed id 10429950)1, 3 Morello R....Castagnola P. (1999)
    8. Cartilage associated protein (CASP) is a novel developmentally regulated chick embryo protein. (PubMed id 9217321)1, 3 Castagnola P....Cancedda R. (1997)
    9. Prolyl 3-hydroxylase 1 and CRTAP are mutually stabili zing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex. (PubMed id 19846465)1, 9 Chang W....Marini J.C. (2010)
    10. CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VII. (PubMed id 19895918)1, 9 Fratzl-Zelman N....Roschger P. (2010)

    External Searches for CRTAP gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing CRTAP gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10491 HGNC: 2379 AceView: CRTAP Ensembl:ENSG00000170275 euGenes: HUgn10491
    ECgene: CRTAP H-InvDB: CRTAP

    Other Databases showing CRTAP gene

    (According to HUGE)
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    Specialized Databases showing CRTAP gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CRTAP Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CRTAP
    Osteogenesis imperfecta variant databasehttp://oi.gene.le.ac.uk/home.php?select_db=CRTAP

    Intellectual Property
    for CRTAP gene

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    		Patent Information for CRTAP gene:
    Search GeneIP for patents involving CRTAP

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