PRO Term |
GO Annotation |
Evidence |
PR:000000137 hBMPR1A/var:Y62D UniProtKB:P36894, Tyr-62, CHEBI:29958 | BMP receptor type-1A sequence variant 1 (human) "A bone morphogenetic protein receptor type-1A (human) that has an Asp residue at the position equivalent to Tyr-62 of the amino acid sequence represented by UniProtKB:P36894. UniProtKB:P36894, Tyr-62, CHEBI:29958." [PMID:12417513, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050787 juvenile polyposis syndrome |
PMID:12417513 |
PR:000000138 hBMPR1A/var:C82Y UniProtKB:P36894, Cys-82, CHEBI:46858 | BMP receptor type-1A sequence variant 2 (human) "A bone morphogenetic protein receptor type-1A (human) that has a Tyr residue at the position equivalent to Cys-82 of the amino acid sequence represented by UniProtKB:P36894. UniProtKB:P36894, Cys-82, CHEBI:46858." [PMID:12417513, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050787 juvenile polyposis syndrome |
PMID:12417513 |
PR:000000139 hBMPR1A/var:C124R UniProtKB:P36894, Cys-124, CHEBI:29952 | BMP receptor type-1A sequence variant 3 (human) "A bone morphogenetic protein receptor type-1A (human) that has an Arg residue at the position equivalent to Cys-124 of the amino acid sequence represented by UniProtKB:P36894. UniProtKB:P36894, Cys-124, CHEBI:29952." [PMID:11536076, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050787 juvenile polyposis syndrome |
PMID:11536076 |
PR:000000140 hBMPR1A/var:C130R UniProtKB:P36894, Cys-130, CHEBI:29952 | BMP receptor type-1A sequence variant 4 (human) "A bone morphogenetic protein receptor type-1A (human) that has an Arg residue at the position equivalent to Cys-130 of the amino acid sequence represented by UniProtKB:P36894. UniProtKB:P36894, Cys-130, CHEBI:29952." [PMID:12136244, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050787 juvenile polyposis syndrome |
PMID:12136244 |
PR:000000141 hBMPR1A/var:A338D UniProtKB:P36894, Ala-338, CHEBI:29958 | BMP receptor type-1A sequence variant 5 (human) "A bone morphogenetic protein receptor type-1A (human) that has an Asp residue at the position equivalent to Ala-338 of the amino acid sequence represented by UniProtKB:P36894. UniProtKB:P36894, Ala-338, CHEBI:29958." [PMID:11536076, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:6457 Cowden syndrome |
PMID:11536076 |
PR:000000142 hBMPR1A/var:C376Y UniProtKB:P36894, Cys-376, CHEBI:46858 | BMP receptor type-1A sequence variant 6 (human) "A bone morphogenetic protein receptor type-1A (human) that has a Tyr residue at the position equivalent to Cys-376 of the amino acid sequence represented by UniProtKB:P36894. UniProtKB:P36894, Cys-376, CHEBI:46858." [PMID:11536076, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050787 juvenile polyposis syndrome |
PMID:11536076 |
PR:000000143 hBMPR1A/var:R443C UniProtKB:P36894, Arg-443, CHEBI:29950 | BMP receptor type-1A sequence variant 7 (human) "A bone morphogenetic protein receptor type-1A (human) that has a Cys residue at the position equivalent to Arg-443 of the amino acid sequence represented by UniProtKB:P36894. UniProtKB:P36894, Arg-443, CHEBI:29950." [PMID:12417513, PMID:17344846, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050787 juvenile polyposis syndrome |
PMID:12417513; PMID:17344846 |
PR:000000144 hBMPR1A/var:M470T UniProtKB:P36894, Met-470, CHEBI:30013 | BMP receptor type-1A sequence variant 8 (human) "A bone morphogenetic protein receptor type-1A (human) that has a Thr residue at the position equivalent to Met-470 of the amino acid sequence represented by UniProtKB:P36894. UniProtKB:P36894, Met-470, CHEBI:30013." [PMID:12630959, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050787 juvenile polyposis syndrome |
PMID:12630959 |
PR:000036422 hBMPR1A/iso:1/Phos:1
"A BMP receptor type-1A isoform 1 phosphorylated 1 in human." [PMID:10712517, PMID:12065756, PMID:12829744, PMID:15940369, PRO:CNA] |
acts_upstream_of_or_within | GO:0006468 protein phosphorylation |
PMID:12065756 |
GO:0030509 BMP signaling pathway |
PMID:12829744 |
enables | GO:0004674 protein serine/threonine kinase activity |
PMID:12829744 |
located_in | GO:0009986 cell surface |
PMID:10712517 |
GO:0043235 receptor complex |
PMID:12829744; PMID:15940369 |
PR:P36894-1 hBMPR1A/iso:1
"A BMP receptor type-1A isoform 1 that is encoded in the genome of human." [PRO:CNA] |
located_in | GO:0016020 membrane |
PMID:8397373 |
GO:0043235 receptor complex |
PMID:15940369 |