GJA1

GJA1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 2LL2
Dynodwyr
Cyfenwau	GJA1, AVSD3, CMDR, CX43, EKVP, GJAL, HLHS1, HSS, ODDD, PPKCA, gap junction protein alpha 1, EKVP3
Dynodwyr allanol	OMIM: 121014 HomoloGene: 136 GeneCards: GJA1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • gap junction channel activity involved in cardiac conduction electrical coupling • gap junction channel activity involved in cell communication by electrical coupling • protein domain specific binding • SH3 domain binding • ion transmembrane transporter activity • PDZ domain binding • GO:0022891 transmembrane transporter activity • GO:0001948, GO:0016582 protein binding • connexin binding • gap junction channel activity • signal transducer activity • disordered domain specific binding Cydrannau o'r gell • cytoplasm • endosome • bilen • focal adhesion • mitocondria • multivesicular body • mitochondrial outer membrane • Reticwlwm endoplasmig • membrane raft • lysosome • fascia adherens • extracellular exosome • integral component of membrane • late endosome • Golgi apparatus • Cellbilen • early endosome • gap junction • Golgi-associated vesicle membrane • endoplasmic reticulum membrane • Golgi membrane • integral component of plasma membrane • cell junction • connexin complex • intercalated disc Prosesau biolegol • muscle contraction • GO:1903364 positive regulation of protein catabolic process • regulation of bicellular tight junction assembly • cell communication • cellular response to mechanical stimulus • vascular transport • gap junction assembly • positive regulation of cell communication by chemical coupling • negative regulation of wound healing • negative regulation of cell population proliferation • GO:0097285 apoptotic process • heart development • negative regulation of cell growth • positive regulation of vasoconstriction • positive regulation of glomerular filtration • negative regulation of cardiac muscle cell proliferation • chronic inflammatory response • neuron projection morphogenesis • response to glucose • response to fluid shear stress • atrial cardiac muscle cell action potential • transmembrane transport • positive regulation of behavioral fear response • negative regulation of DNA biosynthetic process • positive regulation of insulin secretion • regulation of calcium ion transport • ATP transport • positive regulation of cytosolic calcium ion concentration • cell-cell signaling • cell communication by electrical coupling involved in cardiac conduction • response to peptide hormone • negative regulation of endothelial cell proliferation • cludo transmembrane rhwng ïonau • protein complex oligomerization • endothelium development • response to pH • positive regulation of I-kappaB kinase/NF-kappaB signaling • GO:0072468 signal transduction • response to ischemia • response to lipopolysaccharide • response to retinoic acid • decidualization • cell communication by electrical coupling • epididymis development • regulation of transmembrane transporter activity • cellular response to parathyroid hormone stimulus • GO:0015915 transport Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	2697	n/a
Ensembl	ENSG00000152661	n/a
UniProt	P17302	n/a
RefSeq (mRNA)	NM_000165	n/a
RefSeq (protein)	NP_000156	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 GJA1 yw GJA1 a elwir hefyd yn Gap junction protein alpha 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 6, band 6q22.31.

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 GJA1.

• HSS
• CMDR
• CX43
• EKVP
• GJAL
• ODDD
• AVSD3
• EKVP3
• HLHS1
• PPKCA

Llyfryddiaeth

• "Up-regulation of gap junction in peripheral blood T lymphocytes contributes to the inflammatory response in essential hypertension. ". PLoS One. 2017. PMID 28910394.
• "Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation. ". J Am Coll Cardiol. 2017. PMID 28705318.
• "Mechanism of action of the anti-inflammatory connexin43 mimetic peptide JM2. ". Am J Physiol Cell Physiol. 2017. PMID 28701358.
• "Connexin43 intercellular communication drives the early differentiation of human bone marrow stromal cells into osteoblasts. ". J Cell Physiol. 2018. PMID 28369869.
• "Connexin-43 channels are a pathway for discharging lactate from glycolytic pancreatic ductal adenocarcinoma cells.". Oncogene. 2017. PMID 28368405.