PRO Term |
GO Annotation |
Evidence |
PR:000000138
hBMPR1A/var:C82Y
Cys-82, CHEBI:46858
|
associated_with_disease_progression |
DOID:0050787 juvenile polyposis syndrome
|
PMID:12417513 |
PR:000000139
hBMPR1A/var:C124R
Cys-124, CHEBI:29952
|
associated_with_disease_progression |
DOID:0050787 juvenile polyposis syndrome
|
PMID:11536076 |
PR:000000144
hBMPR1A/var:M470T
Met-470, CHEBI:30013
|
associated_with_disease_progression |
DOID:0050787 juvenile polyposis syndrome
|
PMID:12630959 |
PR:000000141
hBMPR1A/var:A338D
Ala-338, CHEBI:29958
|
associated_with_disease_progression |
DOID:6457 Cowden syndrome
|
PMID:11536076 |
PR:000000140
hBMPR1A/var:C130R
Cys-130, CHEBI:29952
|
associated_with_disease_progression |
DOID:0050787 juvenile polyposis syndrome
|
PMID:12136244 |
PR:000000143
hBMPR1A/var:R443C
Arg-443, CHEBI:29950
|
associated_with_disease_progression |
DOID:0050787 juvenile polyposis syndrome
|
PMID:12417513, PMID:17344846 |
PR:000000142
hBMPR1A/var:C376Y
Cys-376, CHEBI:46858
|
associated_with_disease_progression |
DOID:0050787 juvenile polyposis syndrome
|
PMID:11536076 |
PR:000036423
mBMPR1A/iso:1/Phos:1
|
enables |
GO:0046332 SMAD binding
|
PMID:10814522, PMID:9738003 |
PR:000036422
hBMPR1A/iso:1/Phos:1
|
acts_upstream_of_or_within |
GO:0006468 protein phosphorylation
|
PMID:12065756 |
acts_upstream_of_or_within |
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 |
part_of |
GO:0043235 receptor complex
|
PMID:12829744, PMID:15940369 |
PR:P36895-1
mBMPR1A/iso:1
|
acts_upstream_of_or_within |
GO:0030509 BMP signaling pathway
|
PMID:10814522 |
PR:P36894-1
hBMPR1A/iso:1
|
located_in |
GO:0016020 membrane
|
PMID:8397373 |
part_of |
GO:0043235 receptor complex
|
PMID:15940369 |
PR:000000137
hBMPR1A/var:Y62D
Tyr-62, CHEBI:29958
|
associated_with_disease_progression |
DOID:0050787 juvenile polyposis syndrome
|
PMID:12417513 |
|