SPTA1

SPTA1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1OWA, 3LBX
Dynodwyr
Cyfenwau	SPTA1, EL2, HPP, HS3, SPH3, SPTA, Spectrin, alpha 1, spectrin alpha, erythrocytic 1
Dynodwyr allanol	OMIM: 182860 HomoloGene: 74460 GeneCards: SPTA1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • calcium ion binding • metal ion binding • actin filament binding • structural constituent of cytoskeleton • GO:0001948, GO:0016582 protein binding • actin binding • protein heterodimerization activity Cydrannau o'r gell • cytoplasm • cytosol • intrinsic component of the cytoplasmic side of the plasma membrane • cell cortex • actin cytoskeleton • Cytosgerbwd • spectrin • spectrin-associated cytoskeleton • cytoplasmic side of plasma membrane • bilen • axon • cortical cytoskeleton • cuticular plate Prosesau biolegol • actin filament organization • MAPK cascade • axon guidance • endoplasmic reticulum to Golgi vesicle-mediated transport • actin filament capping • regulation of cell shape • lymphocyte homeostasis • porphyrin-containing compound biosynthetic process • plasma membrane organization • actin cytoskeleton organization • hemopoiesis • positive regulation of protein binding • positive regulation of T cell proliferation Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	6708	n/a
Ensembl	ENSG00000163554	n/a
UniProt	P02549	n/a
RefSeq (mRNA)	NM_003126	n/a
RefSeq (protein)	NP_003117	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 SPTA1 yw SPTA1 a elwir hefyd yn Spectrin alpha, erythrocytic 1 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 1, band 1q23.1.

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 SPTA1.

• EL2
• HPP
• HS3
• SPH3
• SPTA

Llyfryddiaeth

• "Spectrin Tunis (Sp alpha (I/78)) in a Korean family with hereditary elliptocytosis. ". Ann Lab Med. 2013. PMID 24003435.
• "The common hereditary elliptocytosis-associated α-spectrin L260P mutation perturbs erythrocyte membranes by stabilizing spectrin in the closed dimer conformation. ". Blood. 2013. PMID 23974198.
• "Novel α-spectrin mutation in trans with α-spectrin causing severe neonatal jaundice from hereditary spherocytosis. ". Neonatology. 2014. PMID 25277063.
• "Spectrin and phospholipids - the current picture of their fascinating interplay. ". Cell Mol Biol Lett. 2014. PMID 24569979.
• "Novel exon 2 α spectrin mutation and intragenic crossover: three morphological phenotypes associated with four distinct α spectrin defects.". Haematologica. 2013. PMID 24077844.