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P36894

- BMR1A_HUMAN

UniProt

P36894 - BMR1A_HUMAN

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Protein

Bone morphogenetic protein receptor type-1A

Gene

BMPR1A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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 BMP-2 and BMP-4.

Catalytic activityi

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

Cofactori

Magnesium or manganese.By similarity

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei261 – 2611ATPPROSITE-ProRule annotation
Active sitei362 – 3621Proton acceptorPROSITE-ProRule annotation

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi240 – 2489ATPPROSITE-ProRule annotation

GO - Molecular functioni

  1. ATP binding Source: HGNC
  2. metal ion binding Source: UniProtKB-KW
  3. protein homodimerization activity Source: BHF-UCL
  4. protein serine/threonine kinase activity Source: HGNC
  5. receptor signaling protein serine/threonine kinase activity Source: InterPro
  6. sequence-specific DNA binding RNA polymerase II transcription factor activity Source: Ensembl
  7. SMAD binding Source: HGNC
  8. transforming growth factor beta-activated receptor activity Source: InterPro
  9. transmembrane receptor protein serine/threonine kinase activity Source: Reactome

GO - Biological processi

  1. BMP signaling pathway Source: BHF-UCL
  2. cartilage development Source: Ensembl
  3. developmental growth Source: Ensembl
  4. dorsal/ventral axis specification Source: Ensembl
  5. ectoderm development Source: Ensembl
  6. embryonic digit morphogenesis Source: Ensembl
  7. embryonic organ development Source: Ensembl
  8. endocardial cushion formation Source: BHF-UCL
  9. heart formation Source: Ensembl
  10. hindlimb morphogenesis Source: Ensembl
  11. immune response Source: BHF-UCL
  12. in utero embryonic development Source: Ensembl
  13. lateral mesoderm development Source: Ensembl
  14. lung development Source: Ensembl
  15. mesendoderm development Source: Ensembl
  16. mesoderm formation Source: Ensembl
  17. Mullerian duct regression Source: Ensembl
  18. negative regulation of neurogenesis Source: Ensembl
  19. neural crest cell development Source: Ensembl
  20. neural plate mediolateral regionalization Source: Ensembl
  21. odontogenesis of dentin-containing tooth Source: Ensembl
  22. palate development Source: Ensembl
  23. paraxial mesoderm structural organization Source: Ensembl
  24. pituitary gland development Source: Ensembl
  25. positive regulation of bone mineralization Source: BHF-UCL
  26. positive regulation of epithelial cell proliferation Source: Ensembl
  27. positive regulation of mesenchymal cell proliferation Source: Ensembl
  28. positive regulation of osteoblast differentiation Source: BHF-UCL
  29. positive regulation of pathway-restricted SMAD protein phosphorylation Source: BHF-UCL
  30. positive regulation of SMAD protein import into nucleus Source: BHF-UCL
  31. positive regulation of transcription, DNA-templated Source: Ensembl
  32. protein phosphorylation Source: HGNC
  33. regulation of lateral mesodermal cell fate specification Source: Ensembl
  34. somitogenesis Source: Ensembl
  35. stem cell maintenance Source: Ensembl
  36. transforming growth factor beta receptor signaling pathway Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Kinase, Receptor, Serine/threonine-protein kinase, Transferase

Keywords - Ligandi

ATP-binding, Magnesium, Manganese, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAi2.7.10.2. 2681.
ReactomeiREACT_12034. Signaling by BMP.
SignaLinkiP36894.

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
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:1076. BMPR1A.

Subcellular locationi

GO - Cellular componenti

  1. dendrite Source: Ensembl
  2. integral component of membrane Source: ProtInc
  3. neuronal cell body Source: Ensembl
  4. plasma membrane Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Juvenile polyposis syndrome (JPS) [MIM:174900]: Autosomal 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.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti62 – 621Y → D in JPS. 1 Publication
VAR_022828
Natural varianti82 – 821C → Y in JPS. 1 Publication
VAR_022829
Natural varianti124 – 1241C → R in JPS. 1 Publication
VAR_015533
Natural varianti130 – 1301C → R in JPS. 1 Publication
VAR_022830
Natural varianti338 – 3381A → D in JPS. 1 Publication
VAR_015534
Natural varianti376 – 3761C → Y in JPS. 1 Publication
VAR_015535
Natural varianti443 – 4431R → C in JPS. 2 Publications
Corresponds to variant rs35619497 [ dbSNP | Ensembl ].
VAR_022831
Natural varianti470 – 4701M → T in JPS. 1 Publication
VAR_022832
Polyposis syndrome, mixed hereditary 2 (HMPS2) [MIM:610069]: A disease is characterized by atypical juvenile polyps, colonic adenomas, and colorectal carcinomas.
Note: The disease is caused by mutations affecting the gene represented in this entry.
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)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi107 – 1093DFQ → REL: Affinity for BMP2 decreased by over 200-fold. 1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2323Sequence AnalysisAdd
BLAST
Chaini24 – 532509Bone morphogenetic protein receptor type-1APRO_0000024410Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi61 ↔ 82
Disulfide bondi63 ↔ 67
Glycosylationi73 – 731N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi76 ↔ 100
Disulfide bondi110 ↔ 124
Disulfide bondi125 ↔ 130

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiP36894.
PaxDbiP36894.
PRIDEiP36894.

PTM databases

PhosphoSiteiP36894.

Expressioni

Tissue specificityi

Highly expressed in skeletal muscle.

Gene expression databases

BgeeiP36894.
CleanExiHS_BMPR1A.
GenevestigatoriP36894.

Organism-specific databases

HPAiCAB019398.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
BMP2P1264311EBI-1029237,EBI-1029262
BMP4P126442EBI-1029237,EBI-1998134
GDF5P430262EBI-1029237,EBI-8571476

Protein-protein interaction databases

BioGridi107125. 41 interactions.
DIPiDIP-5793N.
IntActiP36894. 7 interactions.
MINTiMINT-124304.
STRINGi9606.ENSP00000224764.

Structurei

Secondary structure

1
532
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi59 – 624
Beta strandi64 – 663
Beta strandi75 – 8814
Beta strandi90 – 923
Beta strandi94 – 1018
Helixi106 – 1116
Beta strandi116 – 1183
Beta strandi120 – 1256
Helixi130 – 1334

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
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. Positions 57-140, 204-530.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP36894.

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini24 – 152129ExtracellularSequence AnalysisAdd
BLAST
Topological domaini177 – 532356CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei153 – 17624HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini204 – 23330GSPROSITE-ProRule annotationAdd
BLAST
Domaini234 – 525292Protein kinasePROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni107 – 1093Mediates specificity for BMP ligand

Sequence similaritiesi

Contains 1 GS domain.PROSITE-ProRule annotation
Contains 1 protein kinase domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0515.
GeneTreeiENSGT00760000118876.
HOGENOMiHOG000230587.
HOVERGENiHBG054502.
InParanoidiP36894.
KOiK04673.
OMAiCYNRDLE.
OrthoDBiEOG7Q8CN3.
PhylomeDBiP36894.
TreeFamiTF314724.

Family and domain databases

InterProiIPR000472. Activin_rcpt.
IPR011009. Kinase-like_dom.
IPR000719. Prot_kinase_dom.
IPR017441. Protein_kinase_ATP_BS.
IPR008271. Ser/Thr_kinase_AS.
IPR003605. TGF_beta_rcpt_GS.
IPR000333. TGFB_receptor.
[Graphical view]
PANTHERiPTHR23255. PTHR23255. 1 hit.
PfamiPF01064. Activin_recp. 1 hit.
PF00069. Pkinase. 1 hit.
PF08515. TGF_beta_GS. 1 hit.
[Graphical view]
SMARTiSM00467. GS. 1 hit.
[Graphical view]
SUPFAMiSSF56112. SSF56112. 1 hit.
PROSITEiPS51256. GS. 1 hit.
PS00107. PROTEIN_KINASE_ATP. 1 hit.
PS50011. PROTEIN_KINASE_DOM. 1 hit.
PS00108. PROTEIN_KINASE_ST. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2 – 21P → T.3 Publications
Corresponds to variant rs11528010 [ dbSNP | Ensembl ].
VAR_041397
Natural varianti58 – 581F → Y in a renal clear cell carcinoma sample; somatic mutation. 1 Publication
VAR_041398
Natural varianti62 – 621Y → D in JPS. 1 Publication
VAR_022828
Natural varianti82 – 821C → Y in JPS. 1 Publication
VAR_022829
Natural varianti124 – 1241C → R in JPS. 1 Publication
VAR_015533
Natural varianti130 – 1301C → R in JPS. 1 Publication
VAR_022830
Natural varianti338 – 3381A → D in JPS. 1 Publication
VAR_015534
Natural varianti376 – 3761C → Y in JPS. 1 Publication
VAR_015535
Natural varianti443 – 4431R → C in JPS. 2 Publications
Corresponds to variant rs35619497 [ dbSNP | Ensembl ].
VAR_022831
Natural varianti450 – 4501V → M.1 Publication
Corresponds to variant rs55932635 [ dbSNP | Ensembl ].
VAR_041399
Natural varianti470 – 4701M → T in JPS. 1 Publication
VAR_022832
Natural varianti486 – 4861R → Q in a gastric adenocarcinoma sample; somatic mutation. 1 Publication
VAR_041400

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
UniGeneiHs.524477.

Genome annotation databases

EnsembliENST00000372037; ENSP00000361107; ENSG00000107779.
GeneIDi657.
KEGGihsa:657.
UCSCiuc001kdy.3. human.

Polymorphism databases

DMDMi61252444.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
Z22535 mRNA. Translation: CAA80257.1 .
AK291764 mRNA. Translation: BAF84453.1 .
BC028383 mRNA. Translation: AAH28383.1 .
CCDSi CCDS7378.1.
PIRi I37163.
RefSeqi NP_004320.2. NM_004329.2.
UniGenei Hs.524477.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1ES7 X-ray 2.90 B/D 55-143 [» ]
1REW X-ray 1.86 C/D 24-152 [» ]
2GOO X-ray 2.20 B/E 24-152 [» ]
2H62 X-ray 1.85 C 24-152 [» ]
2H64 X-ray 1.92 B 24-152 [» ]
2K3G NMR - A 51-152 [» ]
2QJ9 X-ray 2.44 C/D 24-152 [» ]
2QJA X-ray 2.60 C/D 24-152 [» ]
2QJB X-ray 2.50 C/D 24-152 [» ]
3NH7 X-ray 2.70 A/B/C/D 24-152 [» ]
3QB4 X-ray 2.28 B/D 24-152 [» ]
ProteinModelPortali P36894.
SMRi P36894. Positions 57-140, 204-530.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107125. 41 interactions.
DIPi DIP-5793N.
IntActi P36894. 7 interactions.
MINTi MINT-124304.
STRINGi 9606.ENSP00000224764.

Chemistry

BindingDBi P36894.
ChEMBLi CHEMBL5275.
GuidetoPHARMACOLOGYi 1786.

PTM databases

PhosphoSitei P36894.

Polymorphism databases

DMDMi 61252444.

Proteomic databases

MaxQBi P36894.
PaxDbi P36894.
PRIDEi P36894.

Protocols and materials databases

DNASUi 657.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000372037 ; ENSP00000361107 ; ENSG00000107779 .
GeneIDi 657.
KEGGi hsa:657.
UCSCi uc001kdy.3. human.

Organism-specific databases

CTDi 657.
GeneCardsi GC10P088506.
GeneReviewsi BMPR1A.
HGNCi HGNC:1076. BMPR1A.
HPAi CAB019398.
MIMi 174900. phenotype.
601299. gene.
610069. phenotype.
612242. phenotype.
neXtProti NX_P36894.
Orphaneti 329971. Generalized juvenile polyposis/juvenile polyposis coli.
157794. Hereditary mixed polyposis syndrome.
144. Hereditary nonpolyposis colon cancer.
79076. Juvenile polyposis of infancy.
PharmGKBi PA25386.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0515.
GeneTreei ENSGT00760000118876.
HOGENOMi HOG000230587.
HOVERGENi HBG054502.
InParanoidi P36894.
KOi K04673.
OMAi CYNRDLE.
OrthoDBi EOG7Q8CN3.
PhylomeDBi P36894.
TreeFami TF314724.

Enzyme and pathway databases

BRENDAi 2.7.10.2. 2681.
Reactomei REACT_12034. Signaling by BMP.
SignaLinki P36894.

Miscellaneous databases

EvolutionaryTracei P36894.
GeneWikii BMPR1A.
GenomeRNAii 657.
NextBioi 2672.
PROi P36894.
SOURCEi Search...

Gene expression databases

Bgeei P36894.
CleanExi HS_BMPR1A.
Genevestigatori P36894.

Family and domain databases

InterProi IPR000472. Activin_rcpt.
IPR011009. Kinase-like_dom.
IPR000719. Prot_kinase_dom.
IPR017441. Protein_kinase_ATP_BS.
IPR008271. Ser/Thr_kinase_AS.
IPR003605. TGF_beta_rcpt_GS.
IPR000333. TGFB_receptor.
[Graphical view ]
PANTHERi PTHR23255. PTHR23255. 1 hit.
Pfami PF01064. Activin_recp. 1 hit.
PF00069. Pkinase. 1 hit.
PF08515. TGF_beta_GS. 1 hit.
[Graphical view ]
SMARTi SM00467. GS. 1 hit.
[Graphical view ]
SUPFAMi SSF56112. SSF56112. 1 hit.
PROSITEi PS51256. GS. 1 hit.
PS00107. PROTEIN_KINASE_ATP. 1 hit.
PS50011. PROTEIN_KINASE_DOM. 1 hit.
PS00108. PROTEIN_KINASE_ST. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity."
    ten Dijke P., Ichijo H., Franzen P., Schulz P., Saras J., Toyoshima H., Heldin C.-H., Miyazono K.
    Oncogene 8:2879-2887(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT THR-2.
    Tissue: Placenta.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT THR-2.
    Tissue: Placenta.
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Testis.
  4. "Structure of the Alk1 extracellular domain and characterization of its bone morphogenetic protein (BMP) binding properties."
    Mahlawat P., Ilangovan U., Biswas T., Sun L.Z., Hinck A.P.
    Biochemistry 51:6328-6341(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH BMP2, MUTAGENESIS OF 107-ASP--GLN-109.
  5. "Crystal structure of the BMP-2-BRIA ectodomain complex."
    Kirsch T., Sebald W., Dreyer M.K.
    Nat. Struct. Biol. 7:492-496(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.9 ANGSTROMS) OF 55-143 IN COMPLEX WITH BMP-2.
  6. "Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis."
    Howe J.R., Bair J.L., Sayed M.G., Anderson M.E., Mitros F.A., Petersen G.M., Velculescu V.E., Traverso G., Vogelstein B.
    Nat. Genet. 28:184-187(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: DISEASE.
  7. Cited for: VARIANTS JPS ARG-124; ASP-338 AND TYR-376.
  8. Cited for: VARIANTS JPS ASP-62; TYR-82 AND CYS-443.
  9. "Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers."
    Friedl W., Uhlhaas S., Schulmann K., Stolte M., Loff S., Back W., Mangold E., Stern M., Knaebel H.P., Sutter C., Weber R.G., Pistorius S., Burger B., Propping P.
    Hum. Genet. 111:108-111(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT JPS ARG-130.
  10. "Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation."
    Kim I.J., Park J.H., Kang H.C., Kim K.H., Kim J.H., Ku J.L., Kang S.B., Park S.Y., Lee J.S., Park J.G.
    Clin. Genet. 63:126-130(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT JPS THR-470.
  11. "Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes."
    Delnatte C., Sanlaville D., Mougenot J.-F., Vermeesch J.-R., Houdayer C., Blois M.-C., Genevieve D., Goulet O., Fryns J.-P., Jaubert F., Vekemans M., Lyonnet S., Romana S., Eng C., Stoppa-Lyonnet D.
    Am. J. Hum. Genet. 78:1066-1074(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN JUVENILE POLYPOSIS OF INFANCY.
  12. "Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function."
    Cao X., Eu K.W., Kumarasinghe M.P., Li H.H., Loi C., Cheah P.Y.
    J. Med. Genet. 43:E13-E13(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN HEREDITARY MIXED POLYPOSIS SYNDROME 2.
  13. "Patterns of somatic mutation in human cancer genomes."
    Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G.
    , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.
    Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS [LARGE SCALE ANALYSIS] THR-2; TYR-58; CYS-443; MET-450 AND GLN-486.

Entry informationi

Entry nameiBMR1A_HUMAN
AccessioniPrimary (citable) accession number: P36894
Secondary accession number(s): A8K6U9, Q8NEN8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: March 15, 2005
Last modified: October 29, 2014
This is version 179 of the entry and version 2 of the sequence. [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 cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  2. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  8. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3