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Protein Ontology Report - TGFBR1

PR:000000047 - http://purl.obolibrary.org/obo/PR_000000047
Ontology Information
PRO ID PR:000000047 Show OBO stanza / PAF
PRO name TGF-beta receptor type-1
Synonyms
PRO-short-label: EXACT: TGFBR1
Gene-based: RELATED: ALK5 | SKR4
Other: EXACT: ALK-5 | ESK2 | activin receptor-like kinase 5 | serine/threonine-protein kinase receptor R4
BROAD: TGF-beta receptor type I | TGF-beta type I receptor | TGFR-1 | TbetaR-I | transforming growth factor-beta receptor type I
Definition A TGF-beta superfamily receptor type-1 that is a translation product of the human TGFBR1 gene or a 1:1 ortholog thereof. [PRO:CNA]
PRO Category gene
Parent PR:000000006 TGF-beta superfamily receptor type-1
Terms by PRO Category Retrieve All terms OBO Stanza / PAF
Organism-Independent Organism-Specific
Category Number of Terms Category Number of Terms
gene 1 organism-gene 3
sequence 1 organism-sequence 16
modification 6 organism-modification 5
union 0
Term Hierarchy Visualization DAG     OLS     Cytoscape


Interactive Sequence View Select/align proteoforms across species

Protein Forms
PRO ID & Category Annotation Complex Name Short Label Definition & Comment

TGFBR1 forms found in complexes
TGFBR1 Component Complexes
PR:000000523 TGFBR1/iso:1/SigPep-/Phos:1 PR:000025975 transforming growth factor beta type I receptor homodimeric complex phosphorylated form
PR:000025959 hTGFBR1/iso:1/SigPep-/Phos:1 PR:000025961 transforming growth factor beta type I receptor homodimeric complex phosphorylated form (human)

Functional Annotation
PRO Term GO Annotation Evidence
PR:000000189
hTGFBR1/var:K232E
Lys-232, CHEBI:29972
associated_with_disease_progression DOID:0050466 Loeys-Dietz syndrome PMID:16928994
PR:000000191
hTGFBR1/var:N267H
Asn-267, CHEBI:29979
associated_with_disease_progression DOID:0050466 Loeys-Dietz syndrome PMID:16791849
PR:000025959
hTGFBR1/iso:1/SigPep-/Phos:1
Ser-165/Ser-187/Ser-189/Ser-191, MOD:00046|Thr-185/Thr-186, MOD:00047
acts_upstream_of_or_within GO:0006468 protein phosphorylation PMID:7774578
acts_upstream_of_or_within GO:0007181 transforming growth factor beta receptor complex assembly PMID:8947046
acts_upstream_of_or_within GO:0007165 signal transduction PMID:8242743
enables GO:0005025 transforming growth factor beta receptor activity, type I PMID:7774578, PMID:8947046
located_in GO:0005886 plasma membrane PMID:8947046
PR:P36897-1
hTGFBR1/iso:1
acts_upstream_of_or_within GO:0007165 signal transduction PMID:8242743
PR:000000188
hTGFBR1/var:11
acts_upstream_of_or_within GO:0007179 transforming growth factor beta receptor signaling pathway PMID:9661882
acts_upstream_of_or_within GO:0007165 signal transduction PMID:9661882
PR:000036432
hTGFBR1/iso:1/SigPep-
acts_upstream_of_or_within GO:0007181 transforming growth factor beta receptor complex assembly PMID:8242743
acts_upstream_of_or_within GO:0007165 signal transduction PMID:8242743
located_in GO:0005886 plasma membrane PMID:8242743
PR:000036434
mTGFBR1/iso:1/SigPep-/Phos:1
Ser-165/Ser-187/Ser-189/Ser-191, MOD:00046|Thr-185/Thr-186, MOD:00047
acts_upstream_of_or_within GO:0006468 protein phosphorylation PMID:12065756
PR:000000190
hTGFBR1/var:S241L
Ser-241, CHEBI:30006
associated_with_disease_progression DOID:0050466 Loeys-Dietz syndrome PMID:16596670, PMID:16791849
PR:000000196
hTGFBR1/var:R487W
Arg-487, CHEBI:29954
associated_with_disease_progression DOID:14756 vascular type Ehlers-Danlos syndrome PMID:16928994
PR:000000194
hTGFBR1/var:R487P
Arg-487, CHEBI:50342
associated_with_disease_progression DOID:14756 vascular type Ehlers-Danlos syndrome PMID:15731757, PMID:16928994
PR:000000195
hTGFBR1/var:R487E
Arg-487, CHEBI:29972
associated_with_disease_progression DOID:0050466 Loeys-Dietz syndrome PMID:16791849, PMID:16928994
PR:000000192
hTGFBR1/var:M318R
Met-318, CHEBI:29952
associated_with_disease_progression DOID:0050466 Loeys-Dietz syndrome PMID:15731757
PR:000000193
hTGFBR1/var:D400G
Asp-400, CHEBI:29947
associated_with_disease_progression DOID:0050466 Loeys-Dietz syndrome PMID:15731757
PR:000000187
hTGFBR1/var:10
has_agent SO:0001605 amino_acid_insertion PMID:9661882
PR:000000186
hTGFBR1/var:T200I
Thr-200, CHEBI:30009
associated_with_disease_progression DOID:0050466 Loeys-Dietz syndrome PMID:15731757
Cellular Location GO Term Protein Forms & Complexes Evidence
GO:0005886 plasma membrane PR:000025959 hTGFBR1/iso:1/SigPep-/Phos:1
Ser-165/Ser-187/Ser-189/Ser-191, MOD:00046|Thr-185/Thr-186, MOD:00047
PMID:8947046
PR:000036432 hTGFBR1/iso:1/SigPep-

PMID:8242743

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