KCNIP1

KCNIP1
Strwythurau
PDB	Human UniProt search: PDBe RCSB
Rhestr o ddynodwyr PDB
	1S1E, 2I2R, 2NZ0
Dynodwyr
Cyfenwau	KCNIP1, KCHIP1, VABP, potassium voltage-gated channel interacting protein 1
Dynodwyr allanol	OMIM: 604660 HomoloGene: 22824 GeneCards: KCNIP1
Patrwm RNA pattern
	Rhagor o gyfeiriadau
Ontoleg y genyn
Gweithrediad moleciwlaidd	• calcium ion binding; • potassium channel regulator activity; • potassium channel activity; • GO:0001948, GO:0016582 protein binding; • metal ion binding; • voltage-gated ion channel activity;
Cydrannau o'r gell	• cytoplasm; • extrinsic component of cytoplasmic side of plasma membrane; • voltage-gated potassium channel complex; • Cellbilen; • cell projection; • dendrite; • bilen;
Prosesau biolegol	• potassium ion transport; • regulation of ion transmembrane transport; • cludo ïon; • regulation of potassium ion transmembrane transport; • potassium ion transmembrane transport; • cardiac conduction;
	Sources:Amigo / QuickGO
Orthologau
	30820
	n/a
	ENSG00000182132
	n/a
	Q9NZI2
	n/a
	NM_001034837; NM_001034838; NM_001278339; NM_001278340; NM_014592
	n/a
	NP_001030009; NP_001030010; NP_001265268; NP_001265269; NP_055407
	n/a
	Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn KCNIP1 yw KCNIP1 a elwir hefyd yn Potassium voltage-gated channel interacting protein 1 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 5, band 5q35.1.^[2]

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn KCNIP1.

VABP
KCHIP1

Llyfryddiaeth

"Protein aggregation due to nsSNP resulting in P56S VABP protein is associated with amyotrophic lateral sclerosis. ". J Theor Biol. 2014. PMID 24681403.
"Molecular structure and target recognition of neuronal calcium sensor proteins. ". Biochim Biophys Acta. 2012. PMID 22020049.
"Attention-deficit/hyperactivity disorder associated with KChIP1 rs1541665 in Kv channels accessory proteins. ". PLoS One. 2017. PMID 29176790.
"Genome-wide copy number variation study reveals KCNIP1 as a modulator of insulin secretion. ". Genomics. 2014. PMID 24886904.
"First evidence of pathogenicity of V234I mutation of hVAPB found in Amyotrophic Lateral Sclerosis.". Biochem Biophys Res Commun. 2014. PMID 24792378.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] KCNIP1 - Cronfa NCBI

[1]

[2]