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FLASH GENE

Symbol

CRTAP

contributors: mct/npt - updated : 02-01-2019

HGNC name	cartilage associated protein
HGNC id	2379

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	OIVII osteogenesis imperfecta, variant, moderate-to-severe form, type VII
Location	3p22.3      Physical location : 33.155.449 - 33.189.264
Synonym name	leprecan-like 3
Synonym symbol(s)	CASP, LEPREL3, OI7, P3H5

DNA

TYPE	functioning gene
STRUCTURE	33.82 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006371 7 - 6668 NP_006362 - 401 - 1999 10429950

EXPRESSION

Type	ubiquitous

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol blood / hematopoietic spleen         Cardiovascular heart         Digestive intestine small intestine     highly Reproductive female system ovary     highly Homo sapiens   male system male genital tract seminiferous tubule     Homo sapiens Respiratory respiratory tract larynx     highly   respiratory tract trachea     highly Skeleton axial skeleton         Skin/Tegument skin         Homo sapiens Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Connective bone       Connective cartilage       Epithelial barrier/lining

cells

System Cell Pubmed Species Stage Rna symbol   chondrocyte Reproductive germ cell Homo sapiens Reproductive interstitial cell Homo sapiens

cell lineage
cell lines
fluid/secretion	sperm

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal domain contains four CXXXC sequence repeats
	an internal coiled coil motif required for cytohesin binding
	a putative signal peptide of 26 amino acids
	two potential N-glycosylation signals

mono polymer

heteromer , trimer

HOMOLOGY

interspecies

homolog to murine Crtap

Homologene

FAMILY	CRTAP/NO55 family
	P3H family
	Leprecan protein family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,organelle,lumen
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytosolic,vesicle
text	localized to perinuclear tubulovesicular structures that are in close proximity to the Golgi

basic FUNCTION	scaffolding protein facilitating the function of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli
	essential cofactor for the proper post-translational chain modification and collagen folding (Fratzl-Zelman 2009)
	like its related family member CRTAP, P3H4 is an important modulator of bone homeostasis, acting as a negative regulator of osteoclastogenesis
	P3H1 and CRTAP stabilize each other and absence of one results in degradation of the other
	responsible for posttranslational modifications of type I collagen
	is involved in the post-translational modification of fibrillar collagens
	role for the Leprecans in the post-translational modification of collagens expressed in the stroma of the reproductive organs
	expression of CRTAP in the seminiferous tubules and in mature sperm suggest a role in the testis germ cell lineage and sperm morphogenesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	forms a complex with cyclophilin B and LEPRE1 (leprecan)
	P3H1 forms a hetero-trimeric complex with CRTAP and cyclophilin B (PPIB)

INTERACTION

DNA

RNA

small molecule

protein

interacting with PSCD2, PSCD3

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

OIVII

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

CrtapKO mice have a mild but significant increase in morphologically abnormal mature sperm