PAFAH1B1

PAFAH1B1
Strwythurau
PDB	Human UniProt search: PDBe RCSB
Rhestr o ddynodwyr PDB
	1UUJ, 1VYH
Dynodwyr
Cyfenwau	PAFAH1B1, LIS1, LIS2, MDCR, MDS, PAFAH, platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa), NudF, platelet activating factor acetylhydrolase 1b regulatory subunit 1
Dynodwyr allanol	OMIM: 601545 HomoloGene: 371 GeneCards: PAFAH1B1
Patrwm RNA pattern
	Rhagor o gyfeiriadau
Ontoleg y genyn
Gweithrediad moleciwlaidd	• heparin binding; • phospholipase binding; • dynactin binding; • GO:0032403 protein-containing complex binding; • protein homodimerization activity; • GO:0001948, GO:0016582 protein binding; • dynein intermediate chain binding; • microtubule binding; • phosphoprotein binding; • phospholipase A2 activity; • dynein complex binding; • microtubule plus-end binding;
Cydrannau o'r gell	• cytoplasm; • cytosol; • nuclear membrane; • nuclear envelope; • bilen; • microtubule organizing center; • perinuclear region of cytoplasm; • neuron projection; • microtubule; • Cytosgerbwd; • cnewyllyn cell; • kinetochore; • centrosome; • astral microtubule; • microtubule associated complex; • extracellular exosome; • kinesin complex; • microtubule cytoskeleton; • growth cone; • spindle; • axon; • neuronal cell body; • cell cortex; • fesigl; • cell leading edge; • axon cytoplasm; • motile cilium; • stereocilium; • central region of growth cone; • cytoplasmic microtubule;
Prosesau biolegol	• germ cell development; • positive regulation of cytokine-mediated signaling pathway; • neuromuscular process controlling balance; • nuclear migration; • microtubule cytoskeleton organization involved in establishment of planar polarity; • G2/M transition of mitotic cell cycle; • stem cell division; • acrosome assembly; • cell cycle; • osteoclast development; • positive regulation of embryonic development; • microtubule organizing center organization; • cochlea development; • platelet activating factor metabolic process; • GO:0043087, GO:0032313, GO:0032319, GO:0032314, GO:0043088 regulation of GTPase activity; • adult locomotory behavior; • transmission of nerve impulse; • regulation of microtubule cytoskeleton organization; • positive regulation of cellular component organization; • positive regulation of mitotic cell cycle; • protein secretion; • cortical microtubule organization; • learning or memory; • neuroblast proliferation; • positive regulation of axon extension; • auditory receptor cell development; • brain morphogenesis; • chemical synaptic transmission; • retrograde axonal transport; • cell differentiation; • negative regulation of neuron projection development; • neuron migration; • nervous system development; • cerebral cortex development; • establishment of centrosome localization; • ameboidal-type cell migration; • positive regulation of dendritic spine morphogenesis; • microtubule cytoskeleton organization; • actin cytoskeleton organization; • vesicle transport along microtubule; • lipid metabolism; • establishment of planar polarity of embryonic epithelium; • Cellraniad; • multicellular organism development; • lipid catabolic process; • negative regulation of JNK cascade; • brain development; • layer formation in cerebral cortex; • nuclear membrane disassembly; • cerebral cortex neuron differentiation; • corpus callosum morphogenesis; • hippocampus development; • cell migration; • sister chromatid cohesion; • establishment of mitotic spindle orientation; • microtubule-based process; • maintenance of centrosome location; • ciliary basal body-plasma membrane docking; • regulation of G2/M transition of mitotic cell cycle; • GO:0015915 transport; • microtubule sliding;
	Sources:Amigo / QuickGO
Orthologau
	5048
	n/a
	ENSG00000007168
	n/a
	P43034
	n/a
	NM_000430
	n/a
	NP_000421
	n/a
	Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn PAFAH1B1 yw PAFAH1B1 a elwir hefyd yn Platelet-activating factor acetylhydrolase IB subunit alpha a Platelet-activating factor acetylhydrolase, isoform 1b, subunit 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 17, band 17p13.3.^[2]

Cyfystyron[golygu | golygu cod]

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 PAFAH1B1.

MDS
LIS1
LIS2
MDCR
NudF
PAFAH

Llyfryddiaeth[golygu | golygu cod]

"[Association between platelet-activating factor acetylhydrolase gene polymorphisms and gastrointestinal bleeding in children with Henoch-Schönlein purpura]. ". Zhongguo Dang Dai Er Ke Za Zhi. 2017. PMID 28407821.
"Effect of the R92H and A379V genotypes of platelet-activating factor acetylhydrolase on its enzyme activity, oxidative stress and metabolic profile in Chinese women with polycystic ovary syndrome. ". Lipids Health Dis. 2017. PMID 28320416.
"The functional polymorphisms of LIS1 are associated with acute myeloid leukemia risk in a Han Chinese population. ". Leuk Res. 2017. PMID 28076835.
"A novel recurrent LIS1 splice site mutation in classic lissencephaly. ". Am J Med Genet A. 2017. PMID 27891766.
"Role of PAFAH1B1 in human spermatogenesis, fertilization and early embryonic development.". Reprod Biomed Online. 2015. PMID 26380866.

Cyfeiriadau[golygu | golygu cod]

[1] "Human PubMed Reference:".

[2] PAFAH1B1 - Cronfa NCBI

[1]

[2]