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Entry version 220 (13 Feb 2019)
Sequence version 2 (15 Mar 2005)
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Protein

Bone morphogenetic protein receptor type-1A

Gene

BMPR1A

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 BMP2, BMP4, GDF5 and GDF6. Positively regulates chondrocyte differentiation through GDF5 interaction. Mediates induction of adipogenesis by GDF6.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 sitei261ATPPROSITE-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 sitei362Proton 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 bindingi240 – 248ATPPROSITE-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
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

More...
Reactomei
R-HSA-201451 Signaling by BMP

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

More...
SignaLinki
P36894

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P36894

<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-1A (EC:2.7.11.30)
Short name:
BMP type-1A receptor
Short name:
BMPR-1A
Alternative name(s):
Activin receptor-like kinase 3
Short name:
ALK-3
Serine/threonine-protein kinase receptor R5
Short name:
SKR5
CD_antigen: CD292
<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:BMPR1A
Synonyms:ACVRLK3, ALK3
<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 10

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000107779.11

Human Gene Nomenclature Database

More...
HGNCi
HGNC:1076 BMPR1A

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601299 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P36894

<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; 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 domaini24 – 152ExtracellularSequence analysisAdd BLAST129
<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>Transmembranei153 – 176HelicalSequence analysisAdd BLAST24
Topological domaini177 – 532CytoplasmicSequence analysisAdd BLAST356

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

Juvenile polyposis syndrome (JPS)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal dominant gastrointestinal hamartomatous polyposis syndrome in which patients are at risk for developing gastrointestinal cancers. The lesions are typified by a smooth histological appearance, predominant stroma, cystic spaces and lack of a smooth muscle core. Multiple juvenile polyps usually occur in a number of Mendelian disorders. Sometimes, these polyps occur without associated features as in JPS; here, polyps tend to occur in the large bowel and are associated with an increased risk of colon and other gastrointestinal cancers.
See also OMIM:174900
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_02282862Y → D in JPS. 1 Publication1
Natural variantiVAR_02282982C → Y in JPS. 1 Publication1
Natural variantiVAR_015533124C → R in JPS. 1 PublicationCorresponds to variant dbSNP:rs199476087EnsemblClinVar.1
Natural variantiVAR_022830130C → R in JPS. 1 PublicationCorresponds to variant dbSNP:rs1131691168Ensembl.1
Natural variantiVAR_015534338A → D in JPS. 1 PublicationCorresponds to variant dbSNP:rs199476086EnsemblClinVar.1
Natural variantiVAR_015535376C → Y in JPS. 1 PublicationCorresponds to variant dbSNP:rs199476088EnsemblClinVar.1
Natural variantiVAR_022831443R → C in JPS. 2 PublicationsCorresponds to variant dbSNP:rs35619497EnsemblClinVar.1
Natural variantiVAR_022832470M → T in JPS. 1 PublicationCorresponds to variant dbSNP:rs199476089EnsemblClinVar.1
Polyposis syndrome, mixed hereditary 2 (HMPS2)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease is characterized by atypical juvenile polyps, colonic adenomas, and colorectal carcinomas.
See also OMIM:610069
A microdeletion of chromosome 10q23 involving BMPR1A and PTEN is a cause of chromosome 10q23 deletion syndrome, which shows overlapping features of the following three disorders: Bannayan-Zonana syndrome, Cowden disease and juvenile polyposis syndrome.2 Publications

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi107 – 109DFQ → REL: Affinity for BMP2 decreased by over 200-fold. 1 Publication3

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
657

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

More...
GeneReviewsi
BMPR1A

MalaCards human disease database

More...
MalaCardsi
BMPR1A
MIMi174900 phenotype
610069 phenotype
612242 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000107779

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

More...
Orphaneti
440437 Familial colorectal cancer Type X
329971 Generalized juvenile polyposis/juvenile polyposis coli
157794 Hereditary mixed polyposis syndrome
79076 Juvenile polyposis of infancy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA25386

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL5275

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
1786

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
BMPR1A

Domain mapping of disease mutations (DMDM)

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DMDMi
61252444

<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 – 23Sequence analysisAdd BLAST23
<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_000002441024 – 532Bone morphogenetic protein receptor type-1AAdd BLAST509

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 bondi61 ↔ 822 Publications
Disulfide bondi63 ↔ 672 Publications
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi73N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi76 ↔ 1002 Publications
Disulfide bondi110 ↔ 1242 Publications
Disulfide bondi125 ↔ 1302 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Glycosylated.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P36894

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P36894

MaxQB - The MaxQuant DataBase

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MaxQBi
P36894

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

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PaxDbi
P36894

PeptideAtlas

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PeptideAtlasi
P36894

PRoteomics IDEntifications database

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PRIDEi
P36894

ProteomicsDB human proteome resource

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ProteomicsDBi
55228

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P36894

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

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PhosphoSitePlusi
P36894

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in skeletal muscle.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000107779 Expressed in 226 organ(s), highest expression level in intestine

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P36894 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P36894 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB019398

<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 BMP2 (PubMed:10881198, PubMed:18937504). Interacts with low affinity with GDF5; positively regulates chondrocyte differentiation (PubMed:24098149).3 Publications

<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
107125, 126 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P36894

Database of interacting proteins

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DIPi
DIP-5793N

Protein interaction database and analysis system

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IntActi
P36894, 31 interactors

Molecular INTeraction database

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MINTi
P36894

STRING: functional protein association networks

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STRINGi
9606.ENSP00000224764

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
P36894

<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

1532
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
1ES7X-ray2.90B/D55-143[»]
1REWX-ray1.86C/D24-152[»]
2GOOX-ray2.20B/E24-152[»]
2H62X-ray1.85C24-152[»]
2H64X-ray1.92B24-152[»]
2K3GNMR-A51-152[»]
2QJ9X-ray2.44C/D24-152[»]
2QJAX-ray2.60C/D24-152[»]
2QJBX-ray2.50C/D24-152[»]
3NH7X-ray2.70A/B/C/D24-152[»]
3QB4X-ray2.28B/D24-152[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P36894

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

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SMRi
P36894

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

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EvolutionaryTracei
P36894

<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>Domaini204 – 233GSPROSITE-ProRule annotationAdd BLAST30
Domaini234 – 525Protein kinasePROSITE-ProRule annotationAdd BLAST292

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni107 – 109Mediates specificity for BMP ligand1 Publication3

<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

More...
eggNOGi
KOG2052 Eukaryota
ENOG410XQT0 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156225

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
P36894

KEGG Orthology (KO)

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KOi
K04673

Identification of Orthologs from Complete Genome Data

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OMAi
EVVCVKG

Database of Orthologous Groups

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OrthoDBi
898916at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P36894

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

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

Simple Modular Architecture Research Tool; a protein domain database

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

Superfamily database of structural and functional annotation

More...
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>Sequence (1+)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 has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

P36894-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MPQLYIYIRL LGAYLFIISR VQGQNLDSML HGTGMKSDSD QKKSENGVTL
60 70 80 90 100
APEDTLPFLK CYCSGHCPDD AINNTCITNG HCFAIIEEDD QGETTLASGC
110 120 130 140 150
MKYEGSDFQC KDSPKAQLRR TIECCRTNLC NQYLQPTLPP VVIGPFFDGS
160 170 180 190 200
IRWLVLLISM AVCIIAMIIF SSCFCYKHYC KSISSRRRYN RDLEQDEAFI
210 220 230 240 250
PVGESLKDLI DQSQSSGSGS GLPLLVQRTI AKQIQMVRQV GKGRYGEVWM
260 270 280 290 300
GKWRGEKVAV KVFFTTEEAS WFRETEIYQT VLMRHENILG FIAADIKGTG
310 320 330 340 350
SWTQLYLITD YHENGSLYDF LKCATLDTRA LLKLAYSAAC GLCHLHTEIY
360 370 380 390 400
GTQGKPAIAH RDLKSKNILI KKNGSCCIAD LGLAVKFNSD TNEVDVPLNT
410 420 430 440 450
RVGTKRYMAP EVLDESLNKN HFQPYIMADI YSFGLIIWEM ARRCITGGIV
460 470 480 490 500
EEYQLPYYNM VPSDPSYEDM REVVCVKRLR PIVSNRWNSD ECLRAVLKLM
510 520 530
SECWAHNPAS RLTALRIKKT LAKMVESQDV KI
Length:532
Mass (Da):60,198
Last modified:March 15, 2005 - v2
<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:i00CE2DDDA3A44170
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087X0P8A0A087X0P8_HUMAN
Bone morphogenetic protein receptor...
BMPR1A
41Annotation 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_0413972P → T3 PublicationsCorresponds to variant dbSNP:rs11528010EnsemblClinVar.1
Natural variantiVAR_04139858F → Y in a renal clear cell carcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_02282862Y → D in JPS. 1 Publication1
Natural variantiVAR_02282982C → Y in JPS. 1 Publication1
Natural variantiVAR_015533124C → R in JPS. 1 PublicationCorresponds to variant dbSNP:rs199476087EnsemblClinVar.1
Natural variantiVAR_022830130C → R in JPS. 1 PublicationCorresponds to variant dbSNP:rs1131691168Ensembl.1
Natural variantiVAR_015534338A → D in JPS. 1 PublicationCorresponds to variant dbSNP:rs199476086EnsemblClinVar.1
Natural variantiVAR_015535376C → Y in JPS. 1 PublicationCorresponds to variant dbSNP:rs199476088EnsemblClinVar.1
Natural variantiVAR_022831443R → C in JPS. 2 PublicationsCorresponds to variant dbSNP:rs35619497EnsemblClinVar.1
Natural variantiVAR_041399450V → M1 PublicationCorresponds to variant dbSNP:rs55932635EnsemblClinVar.1
Natural variantiVAR_077353460M → T Found in a patient with tubular adenoma and rectal neuroendocrine tumor; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs758309022EnsemblClinVar.1
Natural variantiVAR_022832470M → T in JPS. 1 PublicationCorresponds to variant dbSNP:rs199476089EnsemblClinVar.1
Natural variantiVAR_041400486R → Q in a gastric adenocarcinoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs752802257EnsemblClinVar.1

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

More...
DDBJi
Links Updated
Z22535 mRNA Translation: CAA80257.1
AK291764 mRNA Translation: BAF84453.1
BC028383 mRNA Translation: AAH28383.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS7378.1

Protein sequence database of the Protein Information Resource

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PIRi
I37163

NCBI Reference Sequences

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RefSeqi
NP_004320.2, NM_004329.2
XP_011538405.1, XM_011540103.2
XP_011538406.1, XM_011540104.2

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.524477

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000372037; ENSP00000361107; ENSG00000107779
ENST00000635816; ENSP00000489707; ENSG00000107779
ENST00000636056; ENSP00000490273; ENSG00000107779
ENST00000638429; ENSP00000492290; ENSG00000107779

Database of genes from NCBI RefSeq genomes

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GeneIDi
657

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:657

UCSC genome browser

More...
UCSCi
uc001kdy.4 human

Keywords - Coding sequence diversityi

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
Z22535 mRNA Translation: CAA80257.1
AK291764 mRNA Translation: BAF84453.1
BC028383 mRNA Translation: AAH28383.1
CCDSiCCDS7378.1
PIRiI37163
RefSeqiNP_004320.2, NM_004329.2
XP_011538405.1, XM_011540103.2
XP_011538406.1, XM_011540104.2
UniGeneiHs.524477

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1ES7X-ray2.90B/D55-143[»]
1REWX-ray1.86C/D24-152[»]
2GOOX-ray2.20B/E24-152[»]
2H62X-ray1.85C24-152[»]
2H64X-ray1.92B24-152[»]
2K3GNMR-A51-152[»]
2QJ9X-ray2.44C/D24-152[»]
2QJAX-ray2.60C/D24-152[»]
2QJBX-ray2.50C/D24-152[»]
3NH7X-ray2.70A/B/C/D24-152[»]
3QB4X-ray2.28B/D24-152[»]
ProteinModelPortaliP36894
SMRiP36894
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107125, 126 interactors
CORUMiP36894
DIPiDIP-5793N
IntActiP36894, 31 interactors
MINTiP36894
STRINGi9606.ENSP00000224764

Chemistry databases

BindingDBiP36894
ChEMBLiCHEMBL5275
GuidetoPHARMACOLOGYi1786

PTM databases

iPTMnetiP36894
PhosphoSitePlusiP36894

Polymorphism and mutation databases

BioMutaiBMPR1A
DMDMi61252444

Proteomic databases

EPDiP36894
jPOSTiP36894
MaxQBiP36894
PaxDbiP36894
PeptideAtlasiP36894
PRIDEiP36894
ProteomicsDBi55228

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
657
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000372037; ENSP00000361107; ENSG00000107779
ENST00000635816; ENSP00000489707; ENSG00000107779
ENST00000636056; ENSP00000490273; ENSG00000107779
ENST00000638429; ENSP00000492290; ENSG00000107779
GeneIDi657
KEGGihsa:657
UCSCiuc001kdy.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
657
DisGeNETi657
EuPathDBiHostDB:ENSG00000107779.11

GeneCards: human genes, protein and diseases

More...
GeneCardsi
BMPR1A
GeneReviewsiBMPR1A
HGNCiHGNC:1076 BMPR1A
HPAiCAB019398
MalaCardsiBMPR1A
MIMi174900 phenotype
601299 gene
610069 phenotype
612242 phenotype
neXtProtiNX_P36894
OpenTargetsiENSG00000107779
Orphaneti440437 Familial colorectal cancer Type X
329971 Generalized juvenile polyposis/juvenile polyposis coli
157794 Hereditary mixed polyposis syndrome
79076 Juvenile polyposis of infancy
PharmGKBiPA25386

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2052 Eukaryota
ENOG410XQT0 LUCA
GeneTreeiENSGT00940000156225
HOGENOMiHOG000230587
HOVERGENiHBG054502
InParanoidiP36894
KOiK04673
OMAiEVVCVKG
OrthoDBi898916at2759
PhylomeDBiP36894
TreeFamiTF314724

Enzyme and pathway databases

BRENDAi2.7.10.2 2681
ReactomeiR-HSA-201451 Signaling by BMP
SignaLinkiP36894
SIGNORiP36894

Miscellaneous databases

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

More...
ChiTaRSi
BMPR1A human
EvolutionaryTraceiP36894

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
BMPR1A

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

More...
GenomeRNAii
657

Protein Ontology

More...
PROi
PR:P36894

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000107779 Expressed in 226 organ(s), highest expression level in intestine
ExpressionAtlasiP36894 baseline and differential
GenevisibleiP36894 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
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

More...
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 nameiBMR1A_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: P36894
Secondary accession number(s): A8K6U9, Q8NEN8
<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: June 1, 1994
Last sequence update: March 15, 2005
Last modified: February 13, 2019
This is version 220 of the entry and version 2 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 chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  7. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  8. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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