TUBA1A

TUBA1A
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 3HKC, 4X20, 3HKE, 3N2G, 4X1Y, 3N2K, 4X1I, 4X1K, 3HKB, 3HKD, 5JCO
Dynodwyr
Cyfenwau	TUBA1A, B-ALPHA-1, LIS3, TUBA3, tubulin alpha 1a
Dynodwyr allanol	OMIM: 602529 HomoloGene: 68498 GeneCards: TUBA1A
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • nucleotide binding • protein domain specific binding • GTP binding • structural molecule activity • structural constituent of cytoskeleton • GO:0001948, GO:0016582 protein binding • GO:0006184 GTPase activity Cydrannau o'r gell • cytoplasm • recycling endosome • cytosol • myelin sheath • cytoplasmic microtubule • cytoplasmic ribonucleoprotein granule • microtubule • extracellular exosome • Cytosgerbwd • cnewyllyn cell • microtubule cytoskeleton • membrane raft • neuromuscular junction Prosesau biolegol • cytoskeleton-dependent intracellular transport • Cellraniad • G2/M transition of mitotic cell cycle • microtubule-based process • cytoskeleton organization • ciliary basal body-plasma membrane docking • regulation of G2/M transition of mitotic cell cycle • microtubule cytoskeleton organization • GO:0007067 Mitosis • GO:1904739 regulation of synapse organization Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	7846	n/a
Ensembl	ENSG00000167552	n/a
UniProt	Q71U36	n/a
RefSeq (mRNA)	NM_006009 NM_001270399 NM_001270400	n/a
RefSeq (protein)	NP_001257328 NP_001257329 NP_006000	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 TUBA1A yw TUBA1A a elwir hefyd yn Tubulin alpha 1a (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 12, band 12q13.12.

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 TUBA1A.

• LIS3
• TUBA3
• B-ALPHA-1

Llyfryddiaeth

• "A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease. ". Brain Dev. 2014. PMID 23528852.
• "Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria. ". Eur J Hum Genet. 2013. PMID 22948023.
• "In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations. ". Mol Brain. 2016. PMID 27431206.
• "TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis. ". Sci Rep. 2015. PMID 26493046.
• "Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.". Acta Neuropathol Commun. 2014. PMID 25059107.