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FLASH GENE

Symbol

BMPR1A

contributors: mct - updated : 24-06-2015

HGNC name	bone morphogenetic protein receptor, type IA
HGNC id	1076

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DEL10Q23 chromosome 10q22q23 deletions and duplications HMPS2 hereditary mixed polyposis syndrome 2 JPS3 juvenile polyposis syndrome
Location	10q23.2      Physical location : 88.516.395 - 88.684.944
Synonym name	activin A receptor, type 2-like kinase 3
	serine/threonine-protein kinase receptor R5
	activin receptor-like kinase 3
	CD292 antigen
Synonym symbol(s)	ALK3, ACVRLK3, BMRA, CD292
EC.number	2.7.11.30

DNA

TYPE	functioning gene
STRUCTURE	168.55 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

Map	cen - D10S1786 - D10S551 - D10S541 - BMPR1A - D10S564 - D10S571 - D10S574 - qter
Authors	Ide (98)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004329 11 - 3631 NP_004320 - 532 - 2002 12368913

EXPRESSION

Rna function	mRNA expression was upregulated in the condensed mesenchyme progenitors of palatal bone
Type	widely

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 Cardiovascular heart       lowly Digestive intestine           liver       lowly digestive mouth gingiva     highly Endocrine thyroid       highly Lymphoid/Immune lymph node       highly Respiratory respiratory tract trachea     highly Urinary kidney       lowly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol   chondrocyte Lymphoid/Immune lymphocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, pregnancy

Text	placenta, trabecular meshwork
	preferentially expressed in the primary palate and anterior secondary palate during palatal outgrowth

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a small cysteine-rich extracellular region
	a juxtamembrane region of phosphorylation, glycine and serine rich (GS)
	a cytoplasmic serine/threonine kinase domain

secondary structure

a beta-strand framework highly similar to ACVRL1, yet there are significant differences in loops shown previously to be important for binding

mono polymer

heteromer , dimer

HOMOLOGY

interspecies

ortholog to murine Bmpr1a

intraspecies

homolog to ACVR1

Homologene

FAMILY	protein kinase superfamily
	TKL Ser/Thr protein kinase family
	TGFB receptor subfamily

CATEGORY

tumor suppressor , receptor membrane G serine/threonine

SUBCELLULAR LOCALIZATION	plasma membrane
text	type 1 membrane protein

basic FUNCTION	required for signal transduction
	downstream mediator of Indian Hedgehog
	regulator of chondrocyte differentiation
	receptor for BMP2, BMP4, and AMH (inducing regression of Muller ducts)
	activating Smad proteins (MADH)
	having a overlapping function with BMPR1B in early chondrogenesis
	may interact with SF3B4 and modulate the activity of a developmentally relevant splicing factor
	playing age-dependent roles for BMP signaling in osteoblasts for bone remodeling
	playing a crucial role in vessel remodeling, vessel integrity and endocardial cushion formation during the development of the circulation system
	BMPR1A and ACVR1, activate multiple signaling pathways to regulate lens formation
	in osteoblasts negatively regulates endogenous bone mass and Wnt/beta-catenin signaling and this regulation may be mediated by the activities of SOST and DKK1
	its signaling plays critical roles in palatal shelf growth and palatal bone formation

CELLULAR PROCESS	cell life, proliferation/growth

PHYSIOLOGICAL PROCESS

text	colonic epithelial cells growth control

PATHWAY

metabolism

signaling

signal transduction

SMAD pathway

a component

complexing with BMPR2

INTERACTION

DNA

RNA

small molecule

protein	binding to members of the TGF beta superfamily
	binding to BMP2 and BMP4
	GIPC1, ACVR1, BMPR1A, and TGFBR1 are signaling components required for TGFBR3-mediated endothelial cell epithelial-mesenchymal transformation
	PLXNA2 was associated with both type 1 and 2 BMP receptors, and BMP2 increased the interaction between PLXNA2 and type 1 receptors
	FGFR3 facilitates BMPR1A to degradation through SMURF1-mediated ubiquitination pathway
	ACVR1 is required for chondrocyte proliferation and differentiation, particularly in craniofacial and axial elements, but exerts coordinated functions with both BMPR1A and BMPR1B throughout the developing endochondral skeleton
	STK11 negatively regulates BMPR1A, BMPR1B signaling

cell & other

REGULATION

activated by

BMPR2

Other

slightly up-regulated during early differentiation stage

ASSOCIATED DISORDERS

corresponding disease(s)

JPS3 , HMPS2 , DEL10Q23

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in juvenile polyposis syndrome constitutional     --low   in lung tissue of pulmonary hypertension tumoral       loss of function in gastrointestinal tumor constitutional     --over   cell surface overabundance and constitutive phosphorylation of BMPR1A associated in FOP lymphocytes with a defect in receptor internalization constitutional     --over   ignificantly increased in both visceral and subcutaneous adipose tissue of overweight and obese subjects compared with lean subjects

Susceptibility

to obesity

Variant & Polymorphism other	four SNPs (rs7095025, rs11202222, rs10788528, and rs7922846) were nominally associated with obesity

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS