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Entry version 199 (10 Apr 2019)
Sequence version 1 (01 Jul 1997)
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Protein

Bone morphogenetic protein receptor type-1B

Gene

BMPR1B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP7/OP-1 and GDF5. Positively regulates chondrocyte differentiation through GDF5 interaction.By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mg2+By similarity, Mn2+By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei231ATPPROSITE-ProRule annotation1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei332Proton acceptorPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi210 – 218ATPPROSITE-ProRule annotation9

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionKinase, Receptor, Serine/threonine-protein kinase, Transferase
Biological processChondrogenesis
LigandATP-binding, Magnesium, Manganese, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.7.10.2 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-201451 Signaling by BMP

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
O00238

SIGNOR Signaling Network Open Resource

More...
SIGNORi
O00238

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Bone morphogenetic protein receptor type-1B (EC:2.7.11.30)
Short name:
BMP type-1B receptor
Short name:
BMPR-1B
Alternative name(s):
CD_antigen: CDw293
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:BMPR1B
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 4

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000138696.10

Human Gene Nomenclature Database

More...
HGNCi
HGNC:1077 BMPR1B

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603248 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O00238

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini14 – 126ExtracellularSequence analysisAdd BLAST113
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei127 – 148HelicalSequence analysisAdd BLAST22
Topological domaini149 – 502CytoplasmicSequence analysisAdd BLAST354

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Acromesomelic dysplasia, Demirhan type (AMDD)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of chondrodysplasia. Acromesomelic chondrodysplasias are rare hereditary skeletal disorders characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMDD inheritance is autosomal recessive.
See also OMIM:609441
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07552031R → C in AMDD; unknown pathological significance; mouse BMPR1B construct containing this mutation shows reduced GDF5-dependent receptor activation, mouse BMPR1B construct containing this mutation shows no loss of cell membrane localization. 1 PublicationCorresponds to variant dbSNP:rs745854387EnsemblClinVar.1
Natural variantiVAR_07552153C → R in AMDD; mouse BMPR1B construct containing this mutation shows loss of GDF5-dependent receptor activation, chicken BMPR1B construct containing this mutation does not show reduced chondrocyte differentiation, mouse BMPR1B construct containing this mutation shows no loss of cell membrane localization. 1 PublicationCorresponds to variant dbSNP:rs863225041EnsemblClinVar.1
Brachydactyly A2 (BDA2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type A2 shortening of the middle phalanges is confined to the index finger and the second toe, all other digits being more or less normal. Because of a rhomboid or triangular shape of the affected middle phalanx, the end of the second finger usually deviates radially.
See also OMIM:112600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_023819200I → K in BDA2. 1 PublicationCorresponds to variant dbSNP:rs121434417EnsemblClinVar.1
Natural variantiVAR_037967486R → Q in brachydactyly type C and BDA2; with also additional features of symphalangism-1. 1 PublicationCorresponds to variant dbSNP:rs121434419EnsemblClinVar.1
Natural variantiVAR_023820486R → W in BDA2. 1 PublicationCorresponds to variant dbSNP:rs121434418EnsemblClinVar.1
Brachydactyly A1, D (BDA1D)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of brachydactyly type A1. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type A1 is characterized by middle phalanges of all the digits rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. BDA1D inheritance is autosomal dominant.
See also OMIM:616849
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076406325K → N in BDA1D; acts in a dominant-negative manner. 1 PublicationCorresponds to variant dbSNP:rs869025614EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNET

More...
DisGeNETi
658

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
BMPR1B

MalaCards human disease database

More...
MalaCardsi
BMPR1B
MIMi112600 phenotype
609441 phenotype
616849 phenotype

Open Targets

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OpenTargetsi
ENSG00000138696

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
2098 Acromesomelic dysplasia, Grebe type
93388 Brachydactyly type A1
93396 Brachydactyly type A2
93384 Brachydactyly type C
2639 Fibular aplasia-complex brachydactyly syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA25387

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL5476

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
1789

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
BMPR1B

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 13Sequence analysisAdd BLAST13
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002441214 – 502Bone morphogenetic protein receptor type-1BAdd BLAST489

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi32 ↔ 53By similarity
Disulfide bondi34 ↔ 38By similarity
Disulfide bondi47 ↔ 71By similarity
Disulfide bondi81 ↔ 95By similarity
Disulfide bondi96 ↔ 102By similarity

Keywords - PTMi

Disulfide bond

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O00238

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O00238

MaxQB - The MaxQuant DataBase

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MaxQBi
O00238

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
O00238

PeptideAtlas

More...
PeptideAtlasi
O00238

PRoteomics IDEntifications database

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PRIDEi
O00238

ProteomicsDB human proteome resource

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ProteomicsDBi
47802

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O00238

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O00238

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000138696 Expressed in 175 organ(s), highest expression level in metanephros

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O00238 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O00238 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with high affinity with GDF5; positively regulates chondrocyte differentiation.1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107126, 72 interactors

Protein interaction database and analysis system

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IntActi
O00238, 3 interactors

Molecular INTeraction database

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MINTi
O00238

STRING: functional protein association networks

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STRINGi
9606.ENSP00000401907

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
O00238

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1502
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3MDYX-ray2.05A/C168-502[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O00238

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O00238

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
O00238

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini174 – 203GSPROSITE-ProRule annotationAdd BLAST30
Domaini204 – 494Protein kinasePROSITE-ProRule annotationAdd BLAST291

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2052 Eukaryota
ENOG410XQT0 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155919

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000230587

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG054502

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O00238

KEGG Orthology (KO)

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KOi
K13578

Identification of Orthologs from Complete Genome Data

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OMAi
LMMECWA

Database of Orthologous Groups

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OrthoDBi
776697at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O00238

TreeFam database of animal gene trees

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TreeFami
TF314724

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000472 Activin_recp
IPR003605 GS_dom
IPR011009 Kinase-like_dom_sf
IPR000719 Prot_kinase_dom
IPR017441 Protein_kinase_ATP_BS
IPR001245 Ser-Thr/Tyr_kinase_cat_dom
IPR008271 Ser/Thr_kinase_AS
IPR000333 TGFB_receptor

The PANTHER Classification System

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PANTHERi
PTHR23255 PTHR23255, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF01064 Activin_recp, 1 hit
PF07714 Pkinase_Tyr, 1 hit
PF08515 TGF_beta_GS, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00653 ACTIVIN2R

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00467 GS, 1 hit
SM00220 S_TKc, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF56112 SSF56112, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS51256 GS, 1 hit
PS00107 PROTEIN_KINASE_ATP, 1 hit
PS50011 PROTEIN_KINASE_DOM, 1 hit
PS00108 PROTEIN_KINASE_ST, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O00238-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLLRSAGKLN VGTKKEDGES TAPTPRPKVL RCKCHHHCPE DSVNNICSTD
60 70 80 90 100
GYCFTMIEED DSGLPVVTSG CLGLEGSDFQ CRDTPIPHQR RSIECCTERN
110 120 130 140 150
ECNKDLHPTL PPLKNRDFVD GPIHHRALLI SVTVCSLLLV LIILFCYFRY
160 170 180 190 200
KRQETRPRYS IGLEQDETYI PPGESLRDLI EQSQSSGSGS GLPLLVQRTI
210 220 230 240 250
AKQIQMVKQI GKGRYGEVWM GKWRGEKVAV KVFFTTEEAS WFRETEIYQT
260 270 280 290 300
VLMRHENILG FIAADIKGTG SWTQLYLITD YHENGSLYDY LKSTTLDAKS
310 320 330 340 350
MLKLAYSSVS GLCHLHTEIF STQGKPAIAH RDLKSKNILV KKNGTCCIAD
360 370 380 390 400
LGLAVKFISD TNEVDIPPNT RVGTKRYMPP EVLDESLNRN HFQSYIMADM
410 420 430 440 450
YSFGLILWEV ARRCVSGGIV EEYQLPYHDL VPSDPSYEDM REIVCIKKLR
460 470 480 490 500
PSFPNRWSSD ECLRQMGKLM TECWAHNPAS RLTALRVKKT LAKMSESQDI

KL
Length:502
Mass (Da):56,930
Last modified:July 1, 1997 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iB283D9BF45535C79
GO
Isoform 2 (identifier: O00238-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MGWLEELNWQLHIFLLILLSMHTRANFLDNM

Show »
Length:532
Mass (Da):60,582
Checksum:i5DF28FF01C96D541
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RGW8D6RGW8_HUMAN
Bone morphogenetic protein receptor...
BMPR1B
125Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RAW8D6RAW8_HUMAN
Bone morphogenetic protein receptor...
BMPR1B
114Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07552031R → C in AMDD; unknown pathological significance; mouse BMPR1B construct containing this mutation shows reduced GDF5-dependent receptor activation, mouse BMPR1B construct containing this mutation shows no loss of cell membrane localization. 1 PublicationCorresponds to variant dbSNP:rs745854387EnsemblClinVar.1
Natural variantiVAR_04140131R → H in a gastric adenocarcinoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs200035802EnsemblClinVar.1
Natural variantiVAR_07552153C → R in AMDD; mouse BMPR1B construct containing this mutation shows loss of GDF5-dependent receptor activation, chicken BMPR1B construct containing this mutation does not show reduced chondrocyte differentiation, mouse BMPR1B construct containing this mutation shows no loss of cell membrane localization. 1 PublicationCorresponds to variant dbSNP:rs863225041EnsemblClinVar.1
Natural variantiVAR_041402149R → W1 PublicationCorresponds to variant dbSNP:rs34231464EnsemblClinVar.1
Natural variantiVAR_023819200I → K in BDA2. 1 PublicationCorresponds to variant dbSNP:rs121434417EnsemblClinVar.1
Natural variantiVAR_041403224R → H1 PublicationCorresponds to variant dbSNP:rs35973133EnsemblClinVar.1
Natural variantiVAR_041404297D → N in a metastatic melanoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_076406325K → N in BDA1D; acts in a dominant-negative manner. 1 PublicationCorresponds to variant dbSNP:rs869025614EnsemblClinVar.1
Natural variantiVAR_041405371R → Q1 PublicationCorresponds to variant dbSNP:rs34970181EnsemblClinVar.1
Natural variantiVAR_037967486R → Q in brachydactyly type C and BDA2; with also additional features of symphalangism-1. 1 PublicationCorresponds to variant dbSNP:rs121434419EnsemblClinVar.1
Natural variantiVAR_023820486R → W in BDA2. 1 PublicationCorresponds to variant dbSNP:rs121434418EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0451001M → MGWLEELNWQLHIFLLILLS MHTRANFLDNM in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
D89675 mRNA Translation: BAA19765.1
U89326 mRNA Translation: AAC28131.1
AK299930 mRNA Translation: BAG61763.1
AK313642 mRNA Translation: BAG36400.1
AC004061 Genomic DNA No translation available.
AC092609 Genomic DNA No translation available.
AC093634 Genomic DNA No translation available.
AC105395 Genomic DNA No translation available.
CH471057 Genomic DNA Translation: EAX06060.1
BC047773 mRNA Translation: AAH47773.1
BC069796 mRNA Translation: AAH69796.1
BC069803 mRNA Translation: AAH69803.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS3642.1 [O00238-1]
CCDS58919.1 [O00238-2]

NCBI Reference Sequences

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RefSeqi
NP_001194.1, NM_001203.2 [O00238-1]
NP_001243721.1, NM_001256792.1 [O00238-1]
NP_001243722.1, NM_001256793.1 [O00238-2]
NP_001243723.1, NM_001256794.1 [O00238-1]
XP_011530503.1, XM_011532201.2 [O00238-1]
XP_016864047.1, XM_017008558.1 [O00238-1]
XP_016864048.1, XM_017008559.1 [O00238-1]
XP_016864049.1, XM_017008560.1 [O00238-1]
XP_016864050.1, XM_017008561.1 [O00238-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.598475

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000264568; ENSP00000264568; ENSG00000138696 [O00238-1]
ENST00000394931; ENSP00000378389; ENSG00000138696 [O00238-1]
ENST00000440890; ENSP00000401907; ENSG00000138696 [O00238-2]
ENST00000509540; ENSP00000421671; ENSG00000138696 [O00238-1]
ENST00000512312; ENSP00000425444; ENSG00000138696 [O00238-1]
ENST00000515059; ENSP00000426617; ENSG00000138696 [O00238-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
658

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:658

UCSC genome browser

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UCSCi
uc003htm.5 human [O00238-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D89675 mRNA Translation: BAA19765.1
U89326 mRNA Translation: AAC28131.1
AK299930 mRNA Translation: BAG61763.1
AK313642 mRNA Translation: BAG36400.1
AC004061 Genomic DNA No translation available.
AC092609 Genomic DNA No translation available.
AC093634 Genomic DNA No translation available.
AC105395 Genomic DNA No translation available.
CH471057 Genomic DNA Translation: EAX06060.1
BC047773 mRNA Translation: AAH47773.1
BC069796 mRNA Translation: AAH69796.1
BC069803 mRNA Translation: AAH69803.1
CCDSiCCDS3642.1 [O00238-1]
CCDS58919.1 [O00238-2]
RefSeqiNP_001194.1, NM_001203.2 [O00238-1]
NP_001243721.1, NM_001256792.1 [O00238-1]
NP_001243722.1, NM_001256793.1 [O00238-2]
NP_001243723.1, NM_001256794.1 [O00238-1]
XP_011530503.1, XM_011532201.2 [O00238-1]
XP_016864047.1, XM_017008558.1 [O00238-1]
XP_016864048.1, XM_017008559.1 [O00238-1]
XP_016864049.1, XM_017008560.1 [O00238-1]
XP_016864050.1, XM_017008561.1 [O00238-1]
UniGeneiHs.598475

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3MDYX-ray2.05A/C168-502[»]
ProteinModelPortaliO00238
SMRiO00238
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107126, 72 interactors
IntActiO00238, 3 interactors
MINTiO00238
STRINGi9606.ENSP00000401907

Chemistry databases

BindingDBiO00238
ChEMBLiCHEMBL5476
GuidetoPHARMACOLOGYi1789

PTM databases

iPTMnetiO00238
PhosphoSitePlusiO00238

Polymorphism and mutation databases

BioMutaiBMPR1B

Proteomic databases

EPDiO00238
jPOSTiO00238
MaxQBiO00238
PaxDbiO00238
PeptideAtlasiO00238
PRIDEiO00238
ProteomicsDBi47802

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
658
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264568; ENSP00000264568; ENSG00000138696 [O00238-1]
ENST00000394931; ENSP00000378389; ENSG00000138696 [O00238-1]
ENST00000440890; ENSP00000401907; ENSG00000138696 [O00238-2]
ENST00000509540; ENSP00000421671; ENSG00000138696 [O00238-1]
ENST00000512312; ENSP00000425444; ENSG00000138696 [O00238-1]
ENST00000515059; ENSP00000426617; ENSG00000138696 [O00238-1]
GeneIDi658
KEGGihsa:658
UCSCiuc003htm.5 human [O00238-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
658
DisGeNETi658
EuPathDBiHostDB:ENSG00000138696.10

GeneCards: human genes, protein and diseases

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GeneCardsi
BMPR1B
GeneReviewsiBMPR1B
HGNCiHGNC:1077 BMPR1B
MalaCardsiBMPR1B
MIMi112600 phenotype
603248 gene
609441 phenotype
616849 phenotype
neXtProtiNX_O00238
OpenTargetsiENSG00000138696
Orphaneti2098 Acromesomelic dysplasia, Grebe type
93388 Brachydactyly type A1
93396 Brachydactyly type A2
93384 Brachydactyly type C
2639 Fibular aplasia-complex brachydactyly syndrome
PharmGKBiPA25387

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2052 Eukaryota
ENOG410XQT0 LUCA
GeneTreeiENSGT00940000155919
HOGENOMiHOG000230587
HOVERGENiHBG054502
InParanoidiO00238
KOiK13578
OMAiLMMECWA
OrthoDBi776697at2759
PhylomeDBiO00238
TreeFamiTF314724

Enzyme and pathway databases

BRENDAi2.7.10.2 2681
ReactomeiR-HSA-201451 Signaling by BMP
SignaLinkiO00238
SIGNORiO00238

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
BMPR1B human
EvolutionaryTraceiO00238

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
BMPR1B

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
658

Protein Ontology

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PROi
PR:O00238

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000138696 Expressed in 175 organ(s), highest expression level in metanephros
ExpressionAtlasiO00238 baseline and differential
GenevisibleiO00238 HS

Family and domain databases

InterProiView protein in InterPro
IPR000472 Activin_recp
IPR003605 GS_dom
IPR011009 Kinase-like_dom_sf
IPR000719 Prot_kinase_dom
IPR017441 Protein_kinase_ATP_BS
IPR001245 Ser-Thr/Tyr_kinase_cat_dom
IPR008271 Ser/Thr_kinase_AS
IPR000333 TGFB_receptor
PANTHERiPTHR23255 PTHR23255, 1 hit
PfamiView protein in Pfam
PF01064 Activin_recp, 1 hit
PF07714 Pkinase_Tyr, 1 hit
PF08515 TGF_beta_GS, 1 hit
PRINTSiPR00653 ACTIVIN2R
SMARTiView protein in SMART
SM00467 GS, 1 hit
SM00220 S_TKc, 1 hit
SUPFAMiSSF56112 SSF56112, 1 hit
PROSITEiView protein in PROSITE
PS51256 GS, 1 hit
PS00107 PROTEIN_KINASE_ATP, 1 hit
PS50011 PROTEIN_KINASE_DOM, 1 hit
PS00108 PROTEIN_KINASE_ST, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiBMR1B_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O00238
Secondary accession number(s): B2R953, B4DSV1, P78366
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: July 1, 1997
Last modified: April 10, 2019
This is version 199 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  2. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  7. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  8. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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