SPTAN1

SPTAN1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 2FOT, 3F31, 3FB2
Dynodwyr
Cyfenwau	SPTAN1, EIEE5, NEAS, SPTA2, spectrin alpha, non-erythrocytic 1, DEE5
Dynodwyr allanol	OMIM: 182810 HomoloGene: 2353 GeneCards: SPTAN1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • calcium ion binding • metal ion binding • calmodulin binding • structural constituent of cytoskeleton • GO:0001948, GO:0016582 protein binding • actin binding • cadherin binding Cydrannau o'r gell • cytoplasm • extracellular vesicle • cytosol • spectrin • bilen • intracellular membrane-bounded organelle • microtubule cytoskeleton • cell cortex • extracellular exosome • Cytosgerbwd • extracellular region • specific granule lumen • tertiary granule lumen Prosesau biolegol • MAPK cascade • axon guidance • endoplasmic reticulum to Golgi vesicle-mediated transport • actin filament capping • cytoskeleton organization • neutrophil degranulation • regulation of molecular function Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	6709	n/a
Ensembl	ENSG00000197694	n/a
UniProt	Q13813	n/a
RefSeq (mRNA)	NM_001130438 NM_001195532 NM_003127 NM_001363759 NM_001363765 NM_001375310 NM_001375311 NM_001375312 NM_001375313 NM_001375314 NM_001375318	n/a
RefSeq (protein)	NP_001123910 NP_001182461 NP_003118 NP_001350688 NP_001350694 NP_001362239 NP_001362240 NP_001362241 NP_001362242 NP_001362243 NP_001362247	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 SPTAN1 yw SPTAN1 a elwir hefyd yn Spectrin alpha chain, non-erythrocytic 1 a Spectrin alpha, non-erythrocytic 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 9, band 9q34.11.

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 SPTAN1.

• NEAS
• EIEE5
• SPTA2

Llyfryddiaeth

• "Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation. ". Brain Dev. 2013. PMID 22656320.
• "Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy. ". Eur J Hum Genet. 2012. PMID 22258530.
• "αII-spectrin in T cells is involved in the regulation of cell-cell contact leading to immunological synapse formation?". PLoS One. 2017. PMID 29244882.
• "Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. ". Brain. 2017. PMID 29050398.
• "Functional Significance of Nuclear α Spectrin.". J Cell Biochem. 2015. PMID 25757157.