|BMR1A_HUMAN » Bone morphogenetic protein receptor type-1A » BMP type-1A receptor; BMPR-1A; Activin receptor-like kinase 3;ALK-3; Serine/threonine-protein kinase receptor R5;SKR5;|
|Hydrophobic Thickness||34.4 ± 3.2 Å|
|Tilt Angle||34 ± 0°|
|Links||UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC, HMDB|
|TM Segments||149-175 (147-179)|
Hippo signaling pathway (KEGG)
Signal Transduction (Reactome)
TGF-beta signaling pathway (KEGG)
|PDB||2k3g (51-152), 3nh7 (A/B/C/D=24-152), 3qb4 (B/D=24-152), 1es7 (B/D=55-143), 2goo (B/E=24-152), 2h64 (B=24-152), 2qj9 (C/D=24-152), 2qja (C/D=24-152), 2qjb (C/D=24-152), 1rew (C/D=24-152), 2h62 (C=24-152)|
ACVR1, Complex: ACVR1:BMR1A
GLT12, Complex: BMR1A:GLT12
SC61B, Complex: SC61B:BMR1A
|UniProt annotation for BMR1A_HUMAN » Bone morphogenetic protein receptor type-1A|
|FUNCTION: 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. Positively regulates chondrocyte differentiation through GDF5 interaction (By similarity). CATALYTIC ACTIVITY: ATP + [receptor-protein] = ADP + [receptor- protein] phosphate. SUBUNIT: Interacts with low affinity with GDF5; positively regulates chondrocyte differentiation. TISSUE SPECIFICITY: Highly expressed in skeletal muscle. DISEASE: Juvenile polyposis syndrome (JPS) OMIM: 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. mutations affecting the gene represented in this entry. DISEASE: Polyposis syndrome, mixed hereditary 2 (HMPS2) OMIM: 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. DISEASE: Note=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.|
|UniProt features for BMR1A_HUMAN » Bone morphogenetic protein receptor type-1A|
SIGNAL 1 23 Potential. |
CHAIN 24 532 Bone morphogenetic protein receptor type- 1A.
DOMAIN 204 233 GS.
DOMAIN 234 525 Protein kinase.
REGION 107 109 Mediates specificity for BMP ligand.
ACT_SITE 362 362 Proton acceptor (By similarity).
DISULFID 61 82
DISULFID 63 67
DISULFID 76 100
DISULFID 110 124
DISULFID 125 130
|Amino Acid Sequence for BMR1A_HUMAN » Bone morphogenetic protein receptor type-1A|
|MPQLYIYIRL LGAYLFIISR VQGQNLDSML HGTGMKSDSD QKKSENGVTL APEDTLPFLK CYCSGHCPDD AINNTCITNG HCFAIIEEDD QGETTLASGC MKYEGSDFQC KDSPKAQLRR TIECCRTNLC NQYLQPTLPP VVIGPFFDGS IRWLVLLISM AVCIIAMIIF SSCFCYKHYC KSISSRRRYN RDLEQDEAFI PVGESLKDLI DQSQSSGSGS GLPLLVQRTI AKQIQMVRQV GKGRYGEVWM GKWRGEKVAV KVFFTTEEAS WFRETEIYQT VLMRHENILG FIAADIKGTG SWTQLYLITD YHENGSLYDF LKCATLDTRA LLKLAYSAAC GLCHLHTEIY GTQGKPAIAH RDLKSKNILI KKNGSCCIAD LGLAVKFNSD TNEVDVPLNT RVGTKRYMAP EVLDESLNKN HFQPYIMADI YSFGLIIWEM ARRCITGGIV EEYQLPYYNM VPSDPSYEDM REVVCVKRLR PIVSNRWNSD ECLRAVLKLM SECWAHNPAS RLTALRIKKT LAKMVESQDV KI|