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P36894

- BMR1A_HUMAN

UniProt

P36894 - BMR1A_HUMAN

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
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    • History
      Entry version 178 (01 Oct 2014)
      Sequence version 2 (15 Mar 2005)
      Previous versions | rss
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    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 binding Source: UniProtKB
    4. protein homodimerization activity Source: BHF-UCL
    5. protein serine/threonine kinase activity Source: HGNC
    6. receptor signaling protein serine/threonine kinase activity Source: InterPro
    7. sequence-specific DNA binding RNA polymerase II transcription factor activity Source: Ensembl
    8. SMAD binding Source: HGNC
    9. transforming growth factor beta-activated receptor activity Source: InterPro
    10. 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

    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

    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
    BMP2P1264313EBI-1029237,EBI-1029262
    BMP4P126442EBI-1029237,EBI-1998134
    GDF5P430262EBI-1029237,EBI-8571476

    Protein-protein interaction databases

    BioGridi107125. 34 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.
    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

    MPQLYIYIRL LGAYLFIISR VQGQNLDSML HGTGMKSDSD QKKSENGVTL    50
    APEDTLPFLK CYCSGHCPDD AINNTCITNG HCFAIIEEDD QGETTLASGC 100
    MKYEGSDFQC KDSPKAQLRR TIECCRTNLC NQYLQPTLPP VVIGPFFDGS 150
    IRWLVLLISM AVCIIAMIIF SSCFCYKHYC KSISSRRRYN RDLEQDEAFI 200
    PVGESLKDLI DQSQSSGSGS GLPLLVQRTI AKQIQMVRQV GKGRYGEVWM 250
    GKWRGEKVAV KVFFTTEEAS WFRETEIYQT VLMRHENILG FIAADIKGTG 300
    SWTQLYLITD YHENGSLYDF LKCATLDTRA LLKLAYSAAC GLCHLHTEIY 350
    GTQGKPAIAH RDLKSKNILI KKNGSCCIAD LGLAVKFNSD TNEVDVPLNT 400
    RVGTKRYMAP EVLDESLNKN HFQPYIMADI YSFGLIIWEM ARRCITGGIV 450
    EEYQLPYYNM VPSDPSYEDM REVVCVKRLR PIVSNRWNSD ECLRAVLKLM 500
    SECWAHNPAS RLTALRIKKT LAKMVESQDV KI 532
    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. 34 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.
    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

    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 1, 2014
    This is version 178 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