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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 chain trimerization and Degradation of the extracellular matrix. Gene Ontology (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

Additional gene information for CRTAP Gene

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

Genomics for CRTAP Gene

GeneHancer (GH) Regulatory Elements for CRTAP Gene

Promoters and enhancers for CRTAP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I033113 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 564.9 +0.7 749 3.1 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B CRTAP GC03P033114 CNOT10 PDCD6IP GLB1 UBP1 PIR55934
GH03I033095 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 8.6 -16.9 -16920 3.1 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B ZNF207 GLB1 TMPPE CNOT10 CRTAP GC03P033091 GC03M033097
GH03I033061 Enhancer 0.7 ENCODE dbSUPER 18.5 -51.0 -50964 2.1 JUND POLR2A JUNB RUNX3 GLB1 CRTAP TMPPE SUGT1P2 CNOT10-AS1 CNOT10 SUMO2P10 SEC13P1
GH03I033054 Enhancer 1.3 Ensembl ENCODE dbSUPER 8.7 -59.0 -58973 1.7 HDGF ATF1 PKNOX1 SMAD1 ARNT NCOA2 TCF12 ZNF766 GATA2 ATF7 TMPPE GLB1 SUGT1P2 CNOT10-AS1 CNOT10 CRTAP SEC13P1 SUMO2P10
GH03I033218 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 4.8 +104.9 104921 1 ZNF335 GLIS2 ZNF362 SP3 ZNF398 GLIS1 ZNF624 PRDM4 PRDM1 ZBTB26 SUSD5 CRTAP PIR48292
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CRTAP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CRTAP gene promoter:

Genomic Locations for CRTAP Gene

Genomic Locations for CRTAP Gene
chr3:33,113,958-33,147,773
(GRCh38/hg38)
Size:
33,816 bases
Orientation:
Plus strand
chr3:33,155,450-33,189,265
(GRCh37/hg19)

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 posLast=8787 and posLast=363363
  • 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

Gene Families for CRTAP Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for CRTAP Gene

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

Function for CRTAP Gene

Molecular function for CRTAP Gene

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

Phenotypes From GWAS Catalog for CRTAP Gene

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

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Cytosol (2)
  • Intermediate filaments (2)
See all subcellular structures

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

Drugs & Compounds for CRTAP Gene

No Compound Related Data Available

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:

Clone 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 CGAP 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.

Evidence on tissue expression from TISSUES for CRTAP Gene

  • Nervous system(4.9)
  • Kidney(4.6)
  • Skin(3.9)
  • Lung(3.5)
  • Eye(2.7)
  • Intestine(2.7)
  • Gall bladder(2.1)
  • Adrenal gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CRTAP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • biliary tract
  • intestine
  • kidney
  • liver
  • stomach
Pelvis:
  • pelvis
  • ureter
  • uterus
  • vagina
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with CRTAP: view

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 33 34
  • 99.5 (n)
dog
(Canis familiaris)
Mammalia CRTAP 33 34
  • 91.6 (n)
cow
(Bos Taurus)
Mammalia CRTAP 33 34
  • 90.19 (n)
mouse
(Mus musculus)
Mammalia Crtap 33 16 34
  • 87.44 (n)
rat
(Rattus norvegicus)
Mammalia LOC102555086 33
  • 86.16 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CRTAP 34
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CRTAP 34
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves CRTAP 33 34
  • 79.15 (n)
lizard
(Anolis carolinensis)
Reptilia CRTAP 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia crtap 33
  • 71.82 (n)
Str.12426 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.24676 33
zebrafish
(Danio rerio)
Actinopterygii crtap 33 34
  • 69.88 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003898 33
  • 46.34 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y73F8A.26 33
  • 43.52 (n)
Y73F8A.26 35 34
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs1032688590 uncertain-significance, Osteogenesis Imperfecta, Recessive 33,145,959(+) G/C 3_prime_UTR_variant
rs1035541540 uncertain-significance, Osteogenesis Imperfecta, Recessive 33,147,761(+) T/G 3_prime_UTR_variant
rs1035572588 uncertain-significance, Osteogenesis Imperfecta, Recessive 33,147,496(+) G/A 3_prime_UTR_variant
rs112399944 uncertain-significance, Osteogenesis Imperfecta, Recessive 33,143,809(+) G/A/C 3_prime_UTR_variant
rs1127898 benign, Osteogenesis Imperfecta, Recessive 33,144,864(+) T/C 3_prime_UTR_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)

Additional Variant Information for CRTAP Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CRTAP Gene

MalaCards: The human disease database

(13) MalaCards diseases for CRTAP Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
osteogenesis imperfecta, type vii
  • oi7
osteogenesis imperfecta, type ii
  • oi2
osteogenesis imperfecta, type iii
  • oi3
osteogenesis imperfecta, type iv
  • oi4
cole-carpenter syndrome
  • bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features
- 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.

Additional Disease Information for CRTAP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 FS … Pals G (European journal of human genetics : EJHG 2009) 3 4 22 58
  2. CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. (PMID: 18566967) Baldridge D … Lee B (Human mutation 2008) 3 4 22 58
  3. cDNA cloning, characterization and chromosome mapping of the gene encoding human cartilage associated protein (CRTAP). (PMID: 10702664) Tonachini L … Castagnola P (Cytogenetics and cell genetics 1999) 3 4 22 58
  4. Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women. (PMID: 19727905) Li GH … Huang QY (Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2010) 3 44 58
  5. Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex. (PMID: 19846465) Chang W … Marini JC (Human molecular genetics 2010) 3 22 58

Products for CRTAP Gene

Sources for CRTAP Gene

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