CRTAP - cartilage associated protein Gene

Homo sapiens

Also known as OI7; CASP; P3H5; LEPREL3

Gene ID: 10491 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	30021884	GOA

Biological Process GO Annotation	Evidence	Reference	Source
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	Reference	Source
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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	CRTAP	O75718	P3H1	Homo sapiens	Q32P28	Crosslink	30021884

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03199	CRTAP Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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