BMPR1B bone morphogenetic protein receptor type 1B [Homo sapiens (human)] - Gene

Summary

Official Symbol: BMPR1Bprovided by HGNC
Official Full Name: bone morphogenetic protein receptor type 1Bprovided by HGNC
Primary source: HGNC:HGNC:1077
See related: Ensembl:ENSG00000138696 MIM:603248; AllianceGenome:HGNC:1077
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ALK6; AMD3; AMDD; BDA2; ALK-6; BDA1D; CDw293
Summary: 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]
Expression: Biased expression in prostate (RPKM 14.5), brain (RPKM 5.7) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q22.3

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (94757955..95158450)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (98073083..98473123)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (95679106..96079601)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BMPR1B Polymorphisms (rs1434536 and rs1970801) are Associated With Breast Cancer Susceptibility in Northwest Chinese Han Females: A Case-Control Study.
Title: BMPR1B Polymorphisms (rs1434536 and rs1970801) are Associated With Breast Cancer Susceptibility in Northwest Chinese Han Females: A Case-Control Study.
BMPR1B gene in brachydactyly type 2-A family with de novo R486W mutation and a disease phenotype.
Title: BMPR1B gene in brachydactyly type 2-A family with de novo R486W mutation and a disease phenotype.
BMPR1A is necessary for chondrogenesis and osteogenesis, whereas BMPR1B prevents hypertrophic differentiation.
Title: BMPR1A is necessary for chondrogenesis and osteogenesis, whereas BMPR1B prevents hypertrophic differentiation.
CDMP1 promotes type II collagen and aggrecan synthesis of nucleus pulposus cell via the mediation of ALK6.
Title: CDMP1 promotes type II collagen and aggrecan synthesis of nucleus pulposus cell via the mediation of ALK6.
The quiescent fraction of chronic myeloid leukemic stem cells depends on BMPR1B, Stat3 and BMP4-niche signals to persist in patients in remission.
Title: The quiescent fraction of chronic myeloid leukemic stem cells depends on BMPR1B, Stat3 and BMP4-niche signals to persist in patients in remission.
BMPR1A and BMPR1B Missense Mutations Cause Primary Ovarian Insufficiency.
Title: BMPR1A and BMPR1B Missense Mutations Cause Primary Ovarian Insufficiency.
identified 2 SNPs on BMPR1B showing significantly independent correlations with thicker cIMT.
Title: Common Genetic Variants on Bone Morphogenetic Protein Receptor Type IB (BMPR1B) Gene Are Predictive for Carotid Intima-Media Thickness.
A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type in a consanguineous family of Pakistani origin
Title: A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type.
the level of apoptosis was inversely proportional to the expression of bone morphogenetic protein (BMPR1B) and follicle stimulating hormone (FSH) receptors, in granulosa cells.
Title: The effect of ovarian reserve and receptor signalling on granulosa cell apoptosis during human follicle development.
Our findings show that also recessive complex digit malformation can be caused by BMPR1B variant and not all biallelic BMPR1B variants cause acromesomelic dysplasia. PDHA2 is a novel candidate gene for male infertility; the protein product is a mitochondrial enzyme with highest expression in ejaculated sperm.
Title: Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility.

Submit: New GeneRIF Correction See all GeneRIFs (56)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Acromesomelic dysplasia 3 MedGen: C4225404 OMIM: 609441 GeneReviews: Not available	Compare labs
Brachydactyly type A1D MedGen: C4225183 OMIM: 616849 GeneReviews: Not available	Compare labs
Type A2 brachydactyly MedGen: C1832702 OMIM: 112600 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide linkage and association scan reveals novel loci for hypertension and blood pressure traits. EBI GWAS Catalog EBI GWAS CatalogPubMed
Family-based genome-wide association scan of attention-deficit/hyperactivity disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Treatment of pulmonary arterial smooth muscle cells with HIV-1 gp120 downregulates expression of BMPR-2, BMPR-1A, and BMPR-1B proteins	PubMed
Nef	nef	Treatment of pulmonary arterial smooth muscle cells with HIV-1 Nef downregulates expression of BMPR-2, BMPR-1A, and BMPR-1B proteins	PubMed
Tat	tat	Treatment of pulmonary arterial smooth muscle cells with HIV-1 Tat modulates expression of BMPR-2, BMPR-1A, and BMPR-1B proteins	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH123060 (e-PCR)
- UniSTS:135453

D4S2380 (e-PCR)
- UniSTS:9528

G62599 (e-PCR)
- UniSTS:139579

MARC_8975-8976:1025019065:3 (e-PCR)
- UniSTS:531260

SHGC-51110 (e-PCR)
- UniSTS:19520

SHGC-24790 (e-PCR)
- UniSTS:57665

G41993 (e-PCR)
- UniSTS:29509

SHGC-79355 (e-PCR)
- UniSTS:103254

SHGC-51118 (e-PCR)
- UniSTS:55907

SHGC-51758 (e-PCR)
- UniSTS:64611

D4S1045 (e-PCR)
- UniSTS:21131

RH70713 (e-PCR)
- UniSTS:41869

SHGC-67739 (e-PCR)
- UniSTS:4761

SHGC-78087 (e-PCR)
- UniSTS:102045

SHGC-9264 (e-PCR)
- UniSTS:10969

SHGC4-1504 (e-PCR)
- UniSTS:35054

SHGC-59827 (e-PCR)
- UniSTS:56818

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables BMP binding	IPI Inferred from Physical Interaction more info	PubMed
enables BMP receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables SMAD binding	IBA Inferred from Biological aspect of Ancestor more info
enables SMAD binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables transforming growth factor beta receptor activity, type I	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane receptor protein serine/threonine kinase activity	NAS Non-traceable Author Statement more info	PubMed
enables transmembrane signaling receptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in BMP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in BMP signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in cartilage condensation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to BMP stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to growth factor stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in central nervous system neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in chondrocyte development	ISS Inferred from Sequence or Structural Similarity more info
involved_in dorsal/ventral pattern formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in endochondral bone morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in eye development	ISS Inferred from Sequence or Structural Similarity more info
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of chondrocyte proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ovarian cumulus expansion	ISS Inferred from Sequence or Structural Similarity more info
involved_in ovulation cycle	ISS Inferred from Sequence or Structural Similarity more info
involved_in phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cartilage development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of chondrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of extrinsic apoptotic signaling pathway via death domain receptors	IEA Inferred from Electronic Annotation more info
acts_upstream_of positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein phosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteoglycan biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in retina development in camera-type eye	IEA Inferred from Electronic Annotation more info
involved_in retinal ganglion cell axon guidance	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of HFE-transferrin receptor complex	IC Inferred by Curator more info	PubMed
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of receptor complex	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: bone morphogenetic protein receptor type-1B

Names: BMP type-1B receptor; BMPR-1B; activin receptor-like kinase 6; bone morphogenetic protein receptor, type IB; serine/threonine receptor kinase

NP_001194.1

EC 2.7.11.30

NP_001243721.1

EC 2.7.11.30

NP_001243722.1

EC 2.7.11.30

NP_001243723.1

EC 2.7.11.30

XP_011530503.1

EC 2.7.11.30

XP_016864047.1

EC 2.7.11.30

XP_016864048.1

EC 2.7.11.30

XP_016864049.1

EC 2.7.11.30

XP_047272047.1

EC 2.7.11.30

XP_047272049.1

EC 2.7.11.30

XP_047272050.1

EC 2.7.11.30

XP_047272051.1

EC 2.7.11.30

XP_054206712.1

EC 2.7.11.30

XP_054206713.1

EC 2.7.11.30

XP_054206714.1

EC 2.7.11.30

XP_054206715.1

EC 2.7.11.30

XP_054206716.1

EC 2.7.11.30

XP_054206717.1

EC 2.7.11.30

XP_054206718.1

EC 2.7.11.30

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009245.1 RefSeqGene

Range

4979..405472

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001203.3 → NP_001194.1 bone morphogenetic protein receptor type-1B isoform b precursor

See identical proteins and their annotated locations for NP_001194.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, and 4 all encode isoform b.

Source sequence(s)

AC093634, AC105395, AW299723, BC069796

Consensus CDS

CCDS3642.1

UniProtKB/Swiss-Prot

B2R953, B4DSV1, O00238, P78366

UniProtKB/TrEMBL

A8KAE3

Related

ENSP00000426617.1, ENST00000515059.6

Conserved Domains (2) summary

cd14219
Location:198 → 502

STKc_BMPR1b; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IB

pfam01064
Location:34 → 106

Activin_recp; Activin types I and II receptor domain
NM_001256792.2 → NP_001243721.1 bone morphogenetic protein receptor type-1B isoform b precursor

See identical proteins and their annotated locations for NP_001243721.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, and 4 all encode isoform b.

Source sequence(s)

AC092609, AC105395, AK313642

Consensus CDS

CCDS3642.1

UniProtKB/Swiss-Prot

B2R953, B4DSV1, O00238, P78366

UniProtKB/TrEMBL

A8KAE3

Related

ENSP00000425444.1, ENST00000512312.5

Conserved Domains (2) summary

cd14219
Location:198 → 502

STKc_BMPR1b; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IB

pfam01064
Location:34 → 106

Activin_recp; Activin types I and II receptor domain
NM_001256793.2 → NP_001243722.1 bone morphogenetic protein receptor type-1B isoform a precursor

See identical proteins and their annotated locations for NP_001243722.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a).

Source sequence(s)

AC092609, AC105395, AK299930

Consensus CDS

CCDS58919.1

UniProtKB/TrEMBL

A8KAE3

Related

ENSP00000401907.2, ENST00000440890.7

Conserved Domains (3) summary

smart00220
Location:235 → 519

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd14219
Location:228 → 532

STKc_BMPR1b; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IB

pfam01064
Location:60 → 140

Activin_recp; Activin types I and II receptor domain
NM_001256794.1 → NP_001243723.1 bone morphogenetic protein receptor type-1B isoform b precursor

See identical proteins and their annotated locations for NP_001243723.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, and 4 all encode isoform b.

Source sequence(s)

AC105395, AK293008, AK299930

Consensus CDS

CCDS3642.1

UniProtKB/Swiss-Prot

B2R953, B4DSV1, O00238, P78366

UniProtKB/TrEMBL

A8KAE3

Related

ENSP00000264568.4, ENST00000264568.8

Conserved Domains (2) summary

cd14219
Location:198 → 502

STKc_BMPR1b; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IB

pfam01064
Location:34 → 106

Activin_recp; Activin types I and II receptor domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

94757955..95158450

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017008559.2 → XP_016864048.1 bone morphogenetic protein receptor type-1B isoform X1

UniProtKB/Swiss-Prot

B2R953, B4DSV1, O00238, P78366

UniProtKB/TrEMBL

A8KAE3

Conserved Domains (2) summary

cd14219
Location:198 → 502

STKc_BMPR1b; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IB

pfam01064
Location:34 → 106

Activin_recp; Activin types I and II receptor domain
XM_047416093.1 → XP_047272049.1 bone morphogenetic protein receptor type-1B isoform X1

UniProtKB/Swiss-Prot

B2R953, B4DSV1, O00238, P78366
XM_047416091.1 → XP_047272047.1 bone morphogenetic protein receptor type-1B isoform X1

UniProtKB/Swiss-Prot

B2R953, B4DSV1, O00238, P78366
XM_011532201.3 → XP_011530503.1 bone morphogenetic protein receptor type-1B isoform X1

See identical proteins and their annotated locations for XP_011530503.1

UniProtKB/Swiss-Prot

B2R953, B4DSV1, O00238, P78366

UniProtKB/TrEMBL

A8KAE3

Conserved Domains (2) summary

cd14219
Location:198 → 502

STKc_BMPR1b; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IB

pfam01064
Location:34 → 106

Activin_recp; Activin types I and II receptor domain
XM_017008558.2 → XP_016864047.1 bone morphogenetic protein receptor type-1B isoform X1

UniProtKB/Swiss-Prot

B2R953, B4DSV1, O00238, P78366

UniProtKB/TrEMBL

A8KAE3

Conserved Domains (2) summary

cd14219
Location:198 → 502

STKc_BMPR1b; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IB

pfam01064
Location:34 → 106

Activin_recp; Activin types I and II receptor domain
XM_047416094.1 → XP_047272050.1 bone morphogenetic protein receptor type-1B isoform X1

UniProtKB/Swiss-Prot

B2R953, B4DSV1, O00238, P78366

Related

ENSP00000500035.1, ENST00000672698.1
XM_017008560.2 → XP_016864049.1 bone morphogenetic protein receptor type-1B isoform X1

UniProtKB/Swiss-Prot

B2R953, B4DSV1, O00238, P78366

UniProtKB/TrEMBL

A8KAE3

Related

ENSP00000421671.1, ENST00000509540.6

Conserved Domains (2) summary

cd14219
Location:198 → 502

STKc_BMPR1b; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IB

pfam01064
Location:34 → 106

Activin_recp; Activin types I and II receptor domain
XM_047416095.1 → XP_047272051.1 bone morphogenetic protein receptor type-1B isoform X1

UniProtKB/Swiss-Prot

B2R953, B4DSV1, O00238, P78366

Alternate T2T-CHM13v2.0

Genomic

NC_060928.1 Alternate T2T-CHM13v2.0

Range

98073083..98473123

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054350739.1 → XP_054206714.1 bone morphogenetic protein receptor type-1B isoform X1

UniProtKB/Swiss-Prot

B2R953, B4DSV1, O00238, P78366
XM_054350741.1 → XP_054206716.1 bone morphogenetic protein receptor type-1B isoform X1

UniProtKB/Swiss-Prot

B2R953, B4DSV1, O00238, P78366
XM_054350737.1 → XP_054206712.1 bone morphogenetic protein receptor type-1B isoform X1

UniProtKB/Swiss-Prot

B2R953, B4DSV1, O00238, P78366
XM_054350742.1 → XP_054206717.1 bone morphogenetic protein receptor type-1B isoform X1

UniProtKB/Swiss-Prot

B2R953, B4DSV1, O00238, P78366
XM_054350738.1 → XP_054206713.1 bone morphogenetic protein receptor type-1B isoform X1

UniProtKB/Swiss-Prot

B2R953, B4DSV1, O00238, P78366
XM_054350740.1 → XP_054206715.1 bone morphogenetic protein receptor type-1B isoform X1

UniProtKB/Swiss-Prot

B2R953, B4DSV1, O00238, P78366
XM_054350743.1 → XP_054206718.1 bone morphogenetic protein receptor type-1B isoform X1

UniProtKB/Swiss-Prot

B2R953, B4DSV1, O00238, P78366