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Protein

Bone morphogenetic protein receptor type-1A

Gene

BMPR1A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

Catalytic activityi

ATP + [receptor-protein] = ADP + [receptor-protein] phosphate.

Cofactori

Mg2+By similarity, Mn2+By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei261ATPPROSITE-ProRule annotation1
Active sitei362Proton acceptorPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi240 – 248ATPPROSITE-ProRule annotation9

GO - Molecular functioni

GO - Biological processi

Keywordsi

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

Enzyme and pathway databases

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

Names & Taxonomyi

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
Gene namesi
Name:BMPR1A
Synonyms:ACVRLK3, ALK3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000107779.11
HGNCiHGNC:1076 BMPR1A
MIMi601299 gene
neXtProtiNX_P36894

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

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

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
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
Mutagenesisi107 – 109DFQ → REL: Affinity for BMP2 decreased by over 200-fold. 1 Publication3

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi657
GeneReviewsiBMPR1A
MalaCardsiBMPR1A
MIMi174900 phenotype
610069 phenotype
612242 phenotype
OpenTargetsiENSG00000107779
Orphaneti329971 Generalized juvenile polyposis/juvenile polyposis coli
157794 Hereditary mixed polyposis syndrome
144 Hereditary nonpolyposis colon cancer
79076 Juvenile polyposis of infancy
PharmGKBiPA25386

Chemistry databases

ChEMBLiCHEMBL5275
GuidetoPHARMACOLOGYi1786

Polymorphism and mutation databases

BioMutaiBMPR1A
DMDMi61252444

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 23Sequence analysisAdd BLAST23
ChainiPRO_000002441024 – 532Bone morphogenetic protein receptor type-1AAdd BLAST509

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi61 ↔ 822 Publications
Disulfide bondi63 ↔ 672 Publications
Glycosylationi73N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi76 ↔ 1002 Publications
Disulfide bondi110 ↔ 1242 Publications
Disulfide bondi125 ↔ 1302 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiP36894
MaxQBiP36894
PaxDbiP36894
PeptideAtlasiP36894
PRIDEiP36894
ProteomicsDBi55228

PTM databases

iPTMnetiP36894
PhosphoSitePlusiP36894

Expressioni

Tissue specificityi

Highly expressed in skeletal muscle.

Gene expression databases

BgeeiENSG00000107779 Expressed in 226 organ(s), highest expression level in intestine
CleanExiHS_BMPR1A
ExpressionAtlasiP36894 baseline and differential
GenevisibleiP36894 HS

Organism-specific databases

HPAiCAB019398

Interactioni

Subunit structurei

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

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi107125, 78 interactors
CORUMiP36894
DIPiDIP-5793N
IntActiP36894, 31 interactors
MINTiP36894
STRINGi9606.ENSP00000224764

Chemistry databases

BindingDBiP36894

Structurei

Secondary structure

1532
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP36894
SMRiP36894
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP36894

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini204 – 233GSPROSITE-ProRule annotationAdd BLAST30
Domaini234 – 525Protein kinasePROSITE-ProRule annotationAdd BLAST292

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni107 – 109Mediates specificity for BMP ligand1 Publication3

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2052 Eukaryota
ENOG410XQT0 LUCA
GeneTreeiENSGT00760000118876
HOGENOMiHOG000230587
HOVERGENiHBG054502
InParanoidiP36894
KOiK04673
OMAiEVVCVKG
OrthoDBiEOG091G0BIU
PhylomeDBiP36894
TreeFamiTF314724

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

Sequence (1+)i

Sequence statusi: Complete.

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
Checksum:i00CE2DDDA3A44170
GO

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:

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:
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

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

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, 78 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
MaxQBiP36894
PaxDbiP36894
PeptideAtlasiP36894
PRIDEiP36894
ProteomicsDBi55228

Protocols and materials databases

DNASUi657
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

CTDi657
DisGeNETi657
EuPathDBiHostDB:ENSG00000107779.11
GeneCardsiBMPR1A
GeneReviewsiBMPR1A
HGNCiHGNC:1076 BMPR1A
HPAiCAB019398
MalaCardsiBMPR1A
MIMi174900 phenotype
601299 gene
610069 phenotype
612242 phenotype
neXtProtiNX_P36894
OpenTargetsiENSG00000107779
Orphaneti329971 Generalized juvenile polyposis/juvenile polyposis coli
157794 Hereditary mixed polyposis syndrome
144 Hereditary nonpolyposis colon cancer
79076 Juvenile polyposis of infancy
PharmGKBiPA25386
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2052 Eukaryota
ENOG410XQT0 LUCA
GeneTreeiENSGT00760000118876
HOGENOMiHOG000230587
HOVERGENiHBG054502
InParanoidiP36894
KOiK04673
OMAiEVVCVKG
OrthoDBiEOG091G0BIU
PhylomeDBiP36894
TreeFamiTF314724

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiBMPR1A human
EvolutionaryTraceiP36894
GeneWikiiBMPR1A
GenomeRNAii657
PROiPR:P36894
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000107779 Expressed in 226 organ(s), highest expression level in intestine
CleanExiHS_BMPR1A
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
ProtoNetiSearch...

Entry informationi

Entry nameiBMR1A_HUMAN
AccessioniPrimary (citable) accession number: P36894
Secondary accession number(s): A8K6U9, Q8NEN8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: March 15, 2005
Last modified: October 10, 2018
This is version 216 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  3. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  4. SIMILARITY comments
    Index of protein domains and families
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  7. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  8. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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