BMPR1A (bone morphogenetic protein receptor type 1A)

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Gene: BMPR1A (bone morphogenetic protein receptor type 1A) Homo sapiens

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Symbol:

BMPR1A

Name:

bone morphogenetic protein receptor type 1A

RGD ID:

734372

HGNC Page

HGNC

Description:

Enables several functions, including ATP binding activity; SMAD binding activity; and protein homodimerization activity. Involved in several processes, including positive regulation of osteoblast differentiation; positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway; and positive regulation of vascular associated smooth muscle cell proliferation. Located in external side of plasma membrane. Colocalizes with caveola. Implicated in hereditary mixed polyposis syndrome 2; intestinal disease; and juvenile polyposis syndrome. Biomarker of pulmonary hypertension.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

10q23del; activin A receptor, type II-like kinase 3; activin receptor-like kinase 3; ACVRLK3; ALK-3; ALK3; BMP type-1A receptor; BMPR-1A; bone morphogenetic protein receptor type IA; bone morphogenetic protein receptor type-1A; bone morphogenetic protein receptor, type 1a; bone morphogenetic protein receptor, type IA; CD292; serine/threonine-protein kinase receptor R5; SKR5

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

Related Pseudogenes:

BMPR1AP1 BMPR1AP2

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	10	86,755,763 - 86,927,969 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	10	86,756,601 - 86,932,825 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	10	88,516,376 - 88,687,726 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	10	88,506,376 - 88,674,925 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	10	88,506,375 - 88,674,924	NCBI
Celera	10	82,519,484 - 82,687,979 (+)	NCBI
Cytogenetic Map	10	q23.2	NCBI
HuRef	10	82,370,811 - 82,538,774 (+)	NCBI		HuRef
CHM1_1	10	88,798,078 - 88,966,382 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	10	87,640,689 - 87,811,711 (+)	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - ClinVar