BMPR1B

Protein identityUniProt · HPA

UniProt accession

O00238

Gene

BMPR1B

Ensembl

ENSG00000138696

Chromosome

4

Canonical length

502 aa

Protein class

CD markers, Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI Gene

This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

Canonical amino-acid sequenceUniProt

502 residues, UniProt reviewed canonical sequence.

>O00238|BMPR1B
     1  MLLRSAGKLN VGTKKEDGES TAPTPRPKVL RCKCHHHCPE DSVNNICSTD GYCFTMIEED
    61  DSGLPVVTSG CLGLEGSDFQ CRDTPIPHQR RSIECCTERN ECNKDLHPTL PPLKNRDFVD
   121  GPIHHRALLI SVTVCSLLLV LIILFCYFRY KRQETRPRYS IGLEQDETYI PPGESLRDLI
   181  EQSQSSGSGS GLPLLVQRTI AKQIQMVKQI GKGRYGEVWM GKWRGEKVAV KVFFTTEEAS
   241  WFRETEIYQT VLMRHENILG FIAADIKGTG SWTQLYLITD YHENGSLYDY LKSTTLDAKS
   301  MLKLAYSSVS GLCHLHTEIF STQGKPAIAH RDLKSKNILV KKNGTCCIAD LGLAVKFISD
   361  TNEVDIPPNT RVGTKRYMPP EVLDESLNRN HFQSYIMADM YSFGLILWEV ARRCVSGGIV
   421  EEYQLPYHDL VPSDPSYEDM REIVCIKKLR PSFPNRWSSD ECLRQMGKLM TECWAHNPAS
   481  RLTALRVKKT LAKMSESQDI KL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BMPR1B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.33

Highest tissue expression

23 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BMPR1B.

Disease | AllUniProt

Conditions BMPR1B is implicated in, by any mechanism.

• Acromesomelic dysplasia 3 (AMD3) MIM:609441
• Brachydactyly A2 (BDA2) MIM:112600
• Brachydactyly A1, D (BDA1D) MIM:616849

Disease | GeneticClinVar

19 pathogenic / likely-pathogenic of 442 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Acromesomelic dysplasia 3
• Type A2 brachydactyly
• Brachydactyly type A1D
• BMPR1B-related disorder
• Acromesomelic dysplasia 2B

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.23

gnomAD pLI

1

gnomAD missense Z

0.27

DepMap mean gene effect

0

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• BMP signaling pathway
• cartilage condensation
• cell differentiation
• cellular response to BMP stimulus
• cellular response to growth factor stimulus
• central nervous system neuron differentiation
• chondrocyte development
• dorsal/ventral pattern formation
• endochondral bone morphogenesis
• eye development
• inflammatory response
• MAPK cascade
• negative regulation of chondrocyte proliferation
• osteoblast differentiation
• ovarian cumulus expansion
• ovulation cycle
• positive regulation of bone mineralization
• positive regulation of cartilage development
• positive regulation of chondrocyte differentiation
• positive regulation of extrinsic apoptotic signaling pathway via death domain receptors
• positive regulation of gene expression
• positive regulation of osteoblast differentiation
• positive regulation of transcription by RNA polymerase II
• proteoglycan biosynthetic process
• retina development in camera-type eye
• retinal ganglion cell axon guidance

Molecular functions

• ATP binding
• BMP binding
• BMP receptor activity
• metal ion binding
• protein serine/threonine kinase activity
• SMAD binding
• transforming growth factor beta receptor activity, type I
• transmembrane receptor protein serine/threonine kinase activity
• transmembrane signaling receptor activity

Cellular components

• dendrite
• HFE-transferrin receptor complex
• neuronal cell body
• plasma membrane
• receptor complex

Protein domainsUniProt · Pfam · InterPro

• Ser/Thr protein kinase, TGFB receptor
• Activin types I and II receptor domain
• Protein kinase domain
• Serine-threonine/tyrosine-protein kinase, catalytic domain
• GS domain
• Serine/threonine-protein kinase, active site
• Protein kinase-like domain superfamily
• Protein kinase, ATP binding site
• Snake toxin-like superfamily
• Activin types I and II receptor domain
• Protein tyrosine and serine/threonine kinase
• Transforming growth factor beta type I GS-motif

KeywordsUniProt

• ATP-binding
• Cell membrane
• Chondrogenesis
• Disulfide bond
• Dwarfism
• Kinase
• Magnesium
• Manganese
• Membrane
• Metal-binding
• Nucleotide-binding
• Receptor
• Serine/threonine-protein kinase
• Signal
• Transferase
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of BMPR1B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• SCUBE3
• TGFBR3
• HJV
• RGMB
• SORL1
• IGSF1
• SMAD6