CRTAP - cartilage associated protein Gene

Also Known as OI7; CASP; P3H5; LEPREL3

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 10491

About CRTAP

Cytogenetic location: 3p22.3 Genomic coordinates (GRCh38): 3:33,114,014-33,147,773 (from NCBI)

This gene has 3 transcripts (splice variants), 203 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in fat (RPKM 41.9), ovary (RPKM 29.9) and 24 other tissues.

Summary

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]

CRTAP Products (4)

mRNA	Protein	Name
NM_001393363.1	NP_001380292.1	cartilage-associated protein isoform 2 precursor
NM_001393364.1	NP_001380293.1	cartilage-associated protein isoform 3 precursor
NM_001393365.1	NP_001380294.1	cartilage-associated protein isoform 4 precursor
NM_006371.5	NP_006362.1	cartilage-associated protein isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	30021884	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in negative regulation of post-translational protein modification	IMP IMP: Inferred from mutant phenotype	19846465	GOA
involved in protein stabilization	IMP IMP: Inferred from mutant phenotype	19846465	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	19846465	GOA
located in extracellular space	IDA IDA: Inferred from direct assay	19846465	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
cartilage-associated protein	leprecan-like 3

CRTAP Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	CRTAP	O75718	P3H1	Homo sapiens	Q32P28	Crosslink	30021884

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
Osteogenesis Imperfecta, Type Vii	Osteogenesis Imperfecta Type 7 Osteogenesis Imperfecta Type Vii OI7 Oi Type Vii Oi, Type Vii Osteogenesis Imperfecta, Type Iib, Formerly Oi2b, Formerly Oi Type 7 Osteogenesis Imperfecta 7 Oi2b Oi-Iib Oi Type Iib Oi-Vii Osteogenesis Imperfecta Perinatal Lethal Autosomal Recessive Osteogenesis Imperfecta Type Ii Autosomal Recessive Osteogenesis Imperfecta Type Iib
Brittle Bone Disorder	Osteogenesis Imperfecta Brittle Bone Disease Fragilitas Ossium Osteopsathyrosis Lobstein Disease Oi Vrolik Disease Lobstein'S Disease Lobstein'S Syndrome Vrolik'S Disease Porak And Durante Disease Glass Bone Disease Osteogenesis Imperfecta, Dominant Perinatal Lethal Osteogenesis Imperfecta, Recessive Perinatal Lethal Brittle Bone Syndrome Oi - [Osteogenesis Imperfecta] Ossium Fragility Osteitis Fragilitans Bony Fragility Blue Sclera With Fragility Of Bone And Deafness White Blue Sclera - Fragility Of Bone - Deafness
Osteogenesis Imperfecta, Type Ii	Vrolik Type Of Osteogenesis Imperfecta Osteogenesis Imperfecta Type 2 OI2 Oi, Type Ii Osteogenesis Imperfecta Congenita Oic Osteogenesis Imperfecta Type Ii Lethal Osteogenesis Imperfecta Oi Type 2 Osteogenesis Imperfecta Congenita Perinatal Lethal Form Osteogenesis Imperfecta Congenita, Perinatal Lethal Form Perinatal Lethal Osteogenesis Imperfecta Congenita Perinatally Lethal Oi Osteogenesis Imperfecta 2 Oi-Ii Oi-Iia Oi Type Iia Osteogenesis Imperfecta Type Iia Osteogenesis Imperfecta Type Ii Autosomal Dominant Oi Type Ii Osteogenesis Imperfecta, Dominant Perinatal Lethal
Osteogenesis Imperfecta, Type Iv	Osteogenesis Imperfecta Type 4 Osteogenesis Imperfecta Type Iv OI4 Oi, Type Iv Osteogenesis Imperfecta With Normal Sclerae Oi Type Iv Oi Type 4 Osteogenesis Imperfecta With Normal Sclera Common Variable Oi With Normal Sclerae Osteogenesis Imperfecta 4 Oi-Iv
Osteogenesis Imperfecta, Type Iii	Osteogenesis Imperfecta Type Iii OI3 Oi, Type Iii Osteogenesis Imperfecta Type 3 Oi Type Iii Oi Type 3 Progressive Deforming Osteogenesis Imperfecta Severe Osteogenesis Imperfecta Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae Progressively Deforming Osteogenesis Imperfecta With Normal Sclera Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae Progressively Deforming Oi Osteogenesis Imperfecta 3 Oi-Iii Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae
Dentinogenesis Imperfecta	Hereditary Opalescent Dentin Dentinogenesis Imperfecta Without Osteogenesis Imperfecta Dgi Capdepont Teeth Dgi Without Oi Di Non-Syndromic Dgi Non-Syndromic Dentinogenesis Imperfecta Opalescent Teeth Without Oi Opalescent Teeth Without Osteogenesis Imperfecta Opalescent Dentin
Coxa Vara
Bruck Syndrome	Osteogenesis Imperfecta With Congenital Joint Contractures Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome
Cole-Carpenter Syndrome	Cole Carpenter Syndrome Bone Fragility Craniosynostosis Proptosis Hydrocephalus Bone Fragility With Craniosynostosis, Ocular Proptosis, Hydrocephalus, And Distinctive Facial Features Bone Fragility-Craniosynostosis-Proptosis-Hydrocephalus Syndrome
Osteogenesis Imperfecta, Type Xiv	Osteogenesis Imperfecta Type 14 OI14 Osteogenesis Imperfecta Type Xiv Oi, Type Xiv Osteogenesis Imperfecta 14 Oi Type Xiv Oi-Xiv
Tooth Ankylosis	Ankylosis Of Teeth Ankylosis Of Tooth
Osteogenesis Imperfecta, Type Xi	Osteogenesis Imperfecta Type 11 OI11 Osteogenesis Imperfecta Type Xi Oi, Type Xi Osteogenesis Imperfecta 11 Oi Type Xi Oi-Xi
Fibrogenesis Imperfecta Ossium	Baker'S Disease
Osteogenesis Imperfecta, Type Viii	Osteogenesis Imperfecta Type 8 OI8 Osteogenesis Imperfecta Type Viii Oi Type Viii Oi, Type Viii Osteogenesis Imperfecta 8 Oi-Viii
Osteogenesis Imperfecta, Type Ix	Osteogenesis Imperfecta Type 9 Osteogenesis Imperfecta Type Ix OI9 Oi Type Ix Osteogenesis Imperfecta Sillence Type Ii/Iii Without Abnormality Of Type I Collagen Oi, Type Ix Oi 9 Osteogenesis Imperfecta 9 Oi-Ix
Bone Development Disease
Osteogenesis Imperfecta, Type Xix	OI19 Osteogenesis Imperfecta Type 19 Osteogenesis Imperfecta Type Xix Osteogenesis Imperfecta, Type 19 Osteogenesis Imperfecta 19
Osteogenesis Imperfecta, Type I	Osteogenesis Imperfecta Type I OI1 Oi, Type I Osteogenesis Imperfecta Tarda Osteogenesis Imperfecta With Blue Sclerae Osteogenesis Imperfecta Type 1 Adair-Dighton Syndrome Mild Osteogenesis Imperfecta Non-Deforming Osteogenesis Imperfecta Oi Type 1 Van Der Hoeve Syndrome Classic Non-Deforming Oi With Blue Sclerae Osteogenesis Imperfecta 1 Oi-I Osteopenic Non-Fracture Syndrome Osteogenesis Imperfecta, Mild Osteogenesis Imperfecta Lobstein'S Disease
Endosteal Hyperostosis, Autosomal Dominant	Osteosclerosis Worth Syndrome Osteosclerosis, Autosomal Dominant Hyperostosis, Endosteal Endosteal Hyperostosis, Worth Type Worth Disease Autosomal Dominant Endosteal Hyperostosis Autosomal Dominant Osteosclerosis, Worth Type Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus Autosomal Dominant Osteosclerosis Benign Form Of Worth Hyperostosis Corticalis Generalisata With Torus Platinus Worth'S Syndrome Worth Type Autosomal Dominant Osteosclerosis Hyperostosis Corticalis Generalisata, Benign Form Of Worth With Torus Palatinus Osteosclerosis, Autosomal Dominant, Worth Type WENHY Endosteal Hyperostosis Autosomal Dominant Hyperostosis Corticalis Generalisata Benign Form Of Worth With Torus Palatinus Osteosclerosis Autosomal Dominant Acquired Osteosclerosis
Ehlers-Danlos Syndrome, Classic Type, 1	Ehlers-Danlos Syndrome, Type I EDSCL1 Ehlers-Danlos Syndrome Classic Type 1 Ehlers-Danlos Syndrome Type 1 Ehlers-Danlos Syndrome, Type I, Formerly Eds1, Formerly Ehlers-Danlos Syndrome, Severe Classic Type, Formerly Eds I, Formerly Ehlers-Danlos Syndrome, Gravis Type, Formerly Ehlers-Danlos Syndrome, Type 1 Type I Ehlers-Danlos Syndrome Eds1 Eds I Ehlers-Danlos Syndrome, Gravis Type Ehlers-Danlos Syndrome, Severe Classic Type Ehlers-Danlos Syndrome 1 Ehlers-Danlos, Classic Syndrome, Type 1 Ehlers-Danlos Syndrome Type 2
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Eds Viib EDSARTH2 Ehlers-Danlos Syndrome, Type Viib, Autosomal Dominant Eds7b Ehlers-Danlos Syndrome Arthrochalasia Type 2 Ehlers-Danlos Syndrome Type 7b Ehlers-Danlos Syndrome 7b Ehlers-Danlos Syndrome, Arthrochalasia, Type 2
Boomerang Dysplasia	BOOMD Boomerang-Like Skeletal Dysplasia Dwarfism With Short, Bowed, Rigid Limbs And Characteristic Facies Piepkorn Dysplasia Dysplasia, Boomerang
Mucopolysaccharidosis Iv	Morquio Syndrome Mucopolysaccharidosis Type 4 Mucopolysaccharidosis Type Iv Morquio Disease Galactosamine-6-Sulfatase Deficiency Mps4 Mpsiv Morquio-Brailsford Disease Chondroosteodystrophy Deficiency Of Chondroitinsulphatase Deficiency Of N-Acetylgalactosamine-6-Sulphatase Mucopolysaccharidosis, Mps-Iv Osteochondrodystrophy Morquio'S Disease Morquio'S Syndrome Mps Iv Mucopolysaccharidosis Iv Morquios Syndrome Mucopolysaccharidosis, Mps-Iv-A Mucopolysaccharidosis Type Ivb Galns Deficiency
Osteoporosis, Juvenile	Idiopathic Juvenile Osteoporosis Idiopathic Osteoporosis Juvenile Osteoporosis Ijo
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Cervical Incompetence	Uterine Cervical Incompetence
Keratosis Follicularis Spinulosa Decalvans	Kfsd Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi Keratosis Follicularis Spinulosa Decalvans, X-Linked Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Caffey Disease	Infantile Cortical Hyperostosis CAFYD Cortical Congenital Hyperostosis Caffey-Silverman Syndrome De Toni-Caffey Disease Hyperostosis Cortical Infantile Hyperostosis, Cortical, Congenital
Osteoporosis	Postmenopausal Osteoporosis Osteoporosis, Postmenopausal Bone Mineral Density Quantitative Trait Locus Bmnd Osteoporosis, Involutional Osteoporosis, Susceptibility To Osteoporosis, Postmenopausal, Susceptibility Bone Mineral Density Variation Qtl, Osteoporosis OSTEOP Involutional Osteoporosis Senile Osteoporosis Osteoporosis Postmenopausal Bone Mineral Density, Quantitative Trait Locus Osteoporosis, Senile Idiopathic Osteoporosis Bone Rarefaction Nos Type 1 Osteoporosis
Ehlers-Danlos Syndrome	Eds Cutis Hyperelastica Elastic Skin Ehlers-Danlos Syndromes Ed Syndrome Ehlers Danlos Syndrome Ehlers Danlos Disease Eds - [Ehlers-Danlos Syndrome]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS03199	CRTAP Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22458	Crtap Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28981	Crtap Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Macaca mulatta	CRTAP	VGNC	VGNC:71498
Bos taurus	CRTAP	VGNC	VGNC:27727
Rattus norvegicus	CRTAP	RGD	RGD:1565180
Canis familiaris	CRTAP	VGNC	VGNC:39631
Felis catus	CRTAP	VGNC	VGNC:61191
Mus musculus	CRTAP	MGD	MGI:1891221
Others	CRTAP	NCBI