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Documentation
Protein Ontology report - TGF-beta 1 sequence variant H222D (human)
PR:000000402 -
http://purl.obolibrary.org/obo/PR_000000402
Protein Forms
Annotations
Ontology Information
Show OBO stanza
/
PAF
/
GPI
PRO ID
PR:000000402
PRO name
TGF-beta 1 sequence variant H222D (human)
Synonyms
PRO-Short-label
:
EXACT:
hTGFB1/var:H222D
PRO-proteoform-std
:
EXACT:
UniProtKB:P01137
, His-222,
CHEBI:29958
Other
:
EXACT:
TGF-beta 1 sequence variant 5 (human)
Definition
"A transforming growth factor beta-1 (human) that has an Asp residue at the position equivalent to His-222 of the amino acid sequence represented by
UniProtKB:P01137
.
UniProtKB:P01137
, His-222,
CHEBI:29958
." [
PMID:12493741
, PRO:CNA, PRO:DAN]
PRO Category
organism-sequence
Parent
PR:P01137
transforming growth factor beta-1 (human)
Taxon
NCBITaxon:9606
Homo sapiens
Terms by PRO Category
Organism-Independent
Organism-Specific
Category
Number of Terms
Category
Number of Terms
Sequence
0
Organism-Sequence
1
Modification
0
Organism-Modification
3
Term Hierarchy
Visualization
DAG:
OLS:
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Related Cross References
Db identifiers
UniProtKB_VAR:VAR_017610
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Protein Forms
Switch to
Extended View
Category
PRO Form Name
Short Name
Ann.
Has Annotation?
comp.
In Complex?
organism-sequence
PR:000000402
TGF-beta 1 sequence variant H222D (human)
hTGFB1/var:H222D
Yes
organism-modification
PR:000021905
TGF-beta 1 sequence variant H222D, signal peptide removed form (human)
hTGFB1/var:H222D/SigPep-
organism-modification
PR:000000623
TGF-beta 1 sequence variant H222D cleaved 1 (human)
hTGFB1/var:H222D/Clv:1
Yes
organism-modification
PR:000000624
TGF-beta 1 sequence variant H222D cleaved 2 (human)
hTGFB1/var:H222D/Clv:2
Yes
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Functional Annotation (GO-centric view)
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PRO Centric View
Biological Process GO Term
Protein Forms & Complexes
Evidence
GO:0007179
transforming growth factor beta receptor signaling pathway
PR:000000402
hTGFB1/var:H222D
PMID:12493741
PR:000000623
hTGFB1/var:H222D/Clv:1
PMID:12493741
GO:0043066
negative regulation of apoptotic process
PR:000000402
hTGFB1/var:H222D
PMID:12493741
PR:000000623
hTGFB1/var:H222D/Clv:1
PMID:12493741
Disease Associated GO Term
Protein Forms & Complexes
Evidence
DO:4997
Camurati-Engelmann disease
PR:000000402
hTGFB1/var:H222D
PMID:12493741
Molecular Function GO Term
Protein Forms & Complexes
Evidence
GO:0008083
growth factor activity
PR:000000623
hTGFB1/var:H222D/Clv:1
PMID:12493741
Cellular Location GO Term
Protein Forms & Complexes
Evidence
GO:0005615
extracellular space
PR:000000623
hTGFB1/var:H222D/Clv:1
PMID:12493741
SO:0001561
polypeptide_partial_loss_of_function
PR:000000624
hTGFB1/var:H222D/Clv:2
PMID:11278244
SO:0001601
conformational_change_variant
PR:000000624
hTGFB1/var:H222D/Clv:2
PMID:11278244