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FLASH GENE

Symbol

PTH1R

contributors: mct/npt - updated : 01-04-2009

HGNC name	parathyroid hormone 1 receptor
HGNC id	9608

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BLOD Blomstrand chondrodysplasia, lethal dwarfism CDMJ chondrodysplasia, metaphyseal, Jansen type ECDMM1 enchondromatosis, multiple 1 EKNS Eiken skeletal dysplasia PFTE primary failure of tooth eruption
Location	3p21.3      Physical location : 46.919.235 - 46.945.286
Synonym name	parathyroid hormone/parathyroid hormone-related peptide receptor
	PTH/PTHrP type I receptor
	parathyroid hormone receptor 1
Synonym symbol(s)	BMD2, PTRR, MGC138452, MGC138426, PTHR1

DNA

TYPE	like-sequence
STRUCTURE	26.05 kb     16 Exon(s)

text structure

three promoters P1, P2, P3 (P3 is the most active in kidney and osteoblastic cells)

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed PTHR1 16 - 2144 66 593 - Pausova (1994)

EXPRESSION

Type	restricted

constitutive of

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 Digestive liver       highly Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly Connective cartilage

cells

System Cell Pubmed Species Stage Rna symbol   chondrocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	seven transmembrane segments (7TM) receptor, secretin family, coupling with Gs alpha protein and activating adenylate cyclase
	a docking binding site for G protein betagamma subunits
	a PDZ recognition motif that interacts with SLC9A3R1

HOMOLOGY

interspecies

homolog to C.elegans C13B9.4

Homologene

FAMILY

G-protein coupled receptor 2 family

CATEGORY

signaling hormone , receptor membrane G

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm
	intracellular,nucleus

basic FUNCTION	mediating the effects of Indian Hedgehog and PTH related peptide on chondrocyte differentiation
	playing a pivotal role in determining the range of peptides that internalize the PTH1R (Wheeler 2007)

CELLULAR PROCESS	cell life, differentiation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

hormonal

PTHR1-signaling pathway is critical for the regulation of endochondral ossification

a component

INTERACTION

DNA

RNA

small molecule

protein	SLC9A3R1
	SLC9A3R2
	interacting with TCTE1L

cell & other

REGULATION

Other

regulated by mutations of PTH and PTHLH that induce a conformational change in the PTH1R and promotes arrestin binding, dissociating SLC9A3R1 from PTH1R internalization (Wheeler 2007)

ASSOCIATED DISORDERS

corresponding disease(s)

BLOD , CDMJ , EKNS , ECDMM1 , PFTE

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS