Home
|
Linked Open Data
|
Browse
|
Search
|
Statistics
|
Download
RACE-PRO
PRO tracker
Community
PRO Consortium
Publications
Documentation
Protein Ontology report - voltage-gated potassium channel subunit KCNQ1 sequence variant S140G (human)
PR:000000851 -
http://purl.obolibrary.org/obo/PR_000000851
Annotations
Ontology Information
Show OBO stanza
/
PAF
/
GPI
PRO ID
PR:000000851
PRO name
voltage-gated potassium channel subunit KCNQ1 sequence variant S140G (human)
Synonyms
PRO-Short-label
:
EXACT:
hKCNQ1/var:S140G
PRO-proteoform-std
:
EXACT:
UniProtKB:P51787
, Ser-140,
CHEBI:29947
NARROW:
UniProtKB:P51787-1
, Ser-140,
CHEBI:29947
Other
:
EXACT:
voltage-gated potassium channel subunit KCNQ1 sequence variant 40 (human)
Definition
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Gly residue at the position equivalent to Ser-140 of the amino acid sequence represented by
UniProtKB:P51787-1
. Example:
UniProtKB:P51787-1
, Ser-140,
CHEBI:29947
." [
PMID:12522251
, PRO:CNA, PRO:DAN]
Comment
Note: This residue is located in the segment S1.
PRO Category
organism-sequence
Parent
PR:P51787
potassium voltage-gated channel subfamily KQT member 1 (human)
Taxon
NCBITaxon:9606
Homo sapiens
Term Hierarchy
Visualization
DAG:
OLS:
Back to top
Related Cross References
Db identifiers
UniProtKB_VAR:VAR_015742
Back to top
Functional Annotation (PRO-centric view)
Switch to
GO Centric View
PRO Term
GO Annotation
Evidence
PR:000000851
hKCNQ1/var:S140G
UniProtKB:P51787, Ser-140, CHEBI:29947 | UniProtKB:P51787-1, Ser-140, CHEBI:29947 | voltage-gated potassium channel subunit KCNQ1 sequence variant 40 (human)
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Gly residue at the position equivalent to Ser-140 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ser-140, CHEBI:29947." [PMID:12522251, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:0050650
familial atrial fibrillation
PMID:12522251
enables
increased
GO:0005267
potassium channel activity
relative to
PR:000002622
KCNQ1/iso:1/UnMod
PMID:12522251
located_in
SO:0001557
polypeptide_gain_of_function_variant
PMID:12522251