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

Gene ID: 658, updated on 1-Jun-2020

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
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; 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

Genomic context

See BMPR1B in Genome Data Viewer
Location:
4q22.3
Exon count:
19
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (94757955..95158453)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (95679128..96079601)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1438 Neighboring gene BMPR1B divergent transcript Neighboring gene unc-5 netrin receptor C Neighboring gene uncharacterized LOC105377335 Neighboring gene uncharacterized LOC105377337

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Acromesomelic dysplasia, Demirhan type
MedGen: C4225404 OMIM: 609441 GeneReviews: Not available
Compare labs
Brachydactyly type A2
MedGen: C1832702 OMIM: 112600 GeneReviews: Not available
Compare labs
Brachydactyly, type a1, d
MedGen: C4225183 OMIM: 616849 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
SMAD binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SMAD binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
transforming growth factor beta receptor activity, type I IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane receptor protein serine/threonine kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
transmembrane receptor protein serine/threonine kinase activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
BMP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
BMP signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
BMP signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
BMP signaling pathway TAS
Traceable Author Statement
more info
 
cartilage condensation NAS
Non-traceable Author Statement
more info
PubMed 
cellular response to BMP stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to growth factor stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chondrocyte development ISS
Inferred from Sequence or Structural Similarity
more info
 
dorsal/ventral pattern formation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endochondral bone morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
eye development ISS
Inferred from Sequence or Structural Similarity
more info
 
inflammatory response IEA
Inferred from Electronic Annotation
more info
 
limb morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of chondrocyte proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
ovarian cumulus expansion ISS
Inferred from Sequence or Structural Similarity
more info
 
ovulation cycle ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of bone mineralization IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cartilage development ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of chondrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of extrinsic apoptotic signaling pathway via death domain receptors IEA
Inferred from Electronic Annotation
more info
 
positive regulation of osteoblast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
proteoglycan biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
retina development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
retinal ganglion cell axon guidance IEA
Inferred from Electronic Annotation
more info
 
skeletal system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
HFE-transferrin receptor complex IC
Inferred by Curator
more info
PubMed 
dendrite IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IC
Inferred by Curator
more info
PubMed 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
receptor complex TAS
Traceable Author Statement
more info
PubMed 

General protein information

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
NP_001243721.1
NP_001243722.1
NP_001243723.1
XP_011530503.1
XP_016864047.1
XP_016864048.1
XP_016864049.1
XP_016864050.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_009245.1 RefSeqGene

    Range
    4979..405472
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001203.3NP_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
    O00238
    Related
    ENSP00000426617.1, ENST00000515059.6
    Conserved Domains (2) summary
    cd14219
    Location:198502
    STKc_BMPR1b; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IB
    pfam01064
    Location:30106
    Activin_recp; Activin types I and II receptor domain
  2. NM_001256792.1NP_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
    O00238
    Related
    ENSP00000425444.1, ENST00000512312.5
    Conserved Domains (2) summary
    cd14219
    Location:198502
    STKc_BMPR1b; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IB
    pfam01064
    Location:30106
    Activin_recp; Activin types I and II receptor domain
  3. NM_001256793.2NP_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/Swiss-Prot
    O00238
    Related
    ENSP00000401907.2, ENST00000440890.7
    Conserved Domains (3) summary
    smart00220
    Location:235519
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14219
    Location:228532
    STKc_BMPR1b; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IB
    pfam01064
    Location:60140
    Activin_recp; Activin types I and II receptor domain
  4. NM_001256794.1NP_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
    O00238
    UniProtKB/TrEMBL
    A8KAE3
    Related
    ENSP00000264568.4, ENST00000264568.8
    Conserved Domains (2) summary
    cd14219
    Location:198502
    STKc_BMPR1b; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IB
    pfam01064
    Location:30106
    Activin_recp; Activin types I and II receptor domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    94757955..95158453
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    O00238
    Conserved Domains (2) summary
    cd14219
    Location:198502
    STKc_BMPR1b; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IB
    pfam01064
    Location:30106
    Activin_recp; Activin types I and II receptor domain
  2. XM_011532201.2XP_011530503.1  bone morphogenetic protein receptor type-1B isoform X1

    See identical proteins and their annotated locations for XP_011530503.1

    UniProtKB/Swiss-Prot
    O00238
    Conserved Domains (2) summary
    cd14219
    Location:198502
    STKc_BMPR1b; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IB
    pfam01064
    Location:30106
    Activin_recp; Activin types I and II receptor domain
  3. XM_017008558.1XP_016864047.1  bone morphogenetic protein receptor type-1B isoform X1

    UniProtKB/Swiss-Prot
    O00238
    Conserved Domains (2) summary
    cd14219
    Location:198502
    STKc_BMPR1b; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IB
    pfam01064
    Location:30106
    Activin_recp; Activin types I and II receptor domain
  4. XM_017008561.1XP_016864050.1  bone morphogenetic protein receptor type-1B isoform X1

    UniProtKB/Swiss-Prot
    O00238
    Related
    ENSP00000500035.1, ENST00000672698.1
    Conserved Domains (2) summary
    cd14219
    Location:198502
    STKc_BMPR1b; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IB
    pfam01064
    Location:30106
    Activin_recp; Activin types I and II receptor domain
  5. XM_017008560.1XP_016864049.1  bone morphogenetic protein receptor type-1B isoform X1

    UniProtKB/Swiss-Prot
    O00238
    Related
    ENSP00000421671.1, ENST00000509540.6
    Conserved Domains (2) summary
    cd14219
    Location:198502
    STKc_BMPR1b; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IB
    pfam01064
    Location:30106
    Activin_recp; Activin types I and II receptor domain
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