DYNC1H1

DYNC1H1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 2BOR, 2BOT
Dynodwyr
Cyfenwau	DYNC1H1, DHC1, DHC1a, DNCH1, DNCL, DNECL, DYHC, Dnchc1, HL-3, SMALED1, p22, CMT2O, dynein cytoplasmic 1 heavy chain 1
Dynodwyr allanol	OMIM: 600112 HomoloGene: 1053 GeneCards: DYNC1H1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • microtubule motor activity • nucleotide binding • ATPase activity • GO:0001948, GO:0016582 protein binding • dynein light intermediate chain binding • cytoskeletal motor activity • ATP binding • RNA binding • minus-end-directed microtubule motor activity • dynein light chain binding • dynein intermediate chain binding Cydrannau o'r gell • cytoplasm • cytosol • centrosome • bilen • filopodium • cytoplasmic dynein complex • dynein complex • microtubule • extracellular exosome • Cytosgerbwd • GO:0005578 extracellular matrix • extracellular region • azurophil granule lumen • cytoplasmic microtubule • cell cortex • axon cytoplasm Prosesau biolegol • antigen processing and presentation of exogenous peptide antigen via MHC class II • establishment of spindle localization • GO:0043148 mitotic spindle organization • endoplasmic reticulum to Golgi vesicle-mediated transport • microtubule-based movement • G2/M transition of mitotic cell cycle • P-body assembly • stress granule assembly • neutrophil degranulation • ciliary basal body-plasma membrane docking • regulation of mitotic spindle organization • positive regulation of intracellular transport • regulation of metaphase plate congression • positive regulation of spindle assembly • cytoplasmic microtubule organization • minus-end-directed vesicle transport along microtubule • cell cycle • Cellraniad • sister chromatid cohesion • regulation of G2/M transition of mitotic cell cycle • GO:0015915 transport • positive regulation of cold-induced thermogenesis • GO:0007067 Mitosis • nuclear migration • retrograde axonal transport Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	1778	n/a
Ensembl	ENSG00000197102	n/a
UniProt	Q14204	n/a
RefSeq (mRNA)	NM_001376	n/a
RefSeq (protein)	NP_001367	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 DYNC1H1 yw DYNC1H1 a elwir hefyd yn Dynein cytoplasmic 1 heavy chain 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 14, band 14q32.31.

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 DYNC1H1.

• p22
• DHC1
• DNCL
• DYHC
• HL-3
• CMT2O
• DHC1a
• DNCH1
• DNECL
• Dnchc1
• SMALED1

Llyfryddiaeth

• "Identification of a de novo DYNC1H1 mutation via WES according to published guidelines. ". Sci Rep. 2016. PMID 26846447.
• "Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1. ". J Neurol. 2015. PMID 26100331.
• "Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy. ". Neurology. 2015. PMID 25609763.
• "Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies. ". Hum Mutat. 2015. PMID 25512093.
• "Dynein function and protein clearance changes in tumor cells induced by a Kunitz-type molecule, Amblyomin-X.". PLoS One. 2014. PMID 25479096.