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
Species	Bod dynol	Llygoden
Entrez	30820	n/a
Ensembl	ENSG00000182132	n/a
UniProt	Q9NZI2	n/a
RefSeq (mRNA)	NM_001034837 NM_001034838 NM_001278339 NM_001278340 NM_014592	n/a
RefSeq (protein)	NP_001030009 NP_001030010 NP_001265268 NP_001265269 NP_055407	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		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.

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.