DIAPH1

DIAPH1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1V9D, 1Z2C, 2BAP, 2BNX, 2F31, 2V8F, 3EG5, 3O4X, 3OBV, 4UWX
Dynodwyr
Cyfenwau	DIAPH1, DFNA1, DIA1, DRF1, LFHL1, hDIA1, SCBMS, diaphanous related formin 1, mDia1
Dynodwyr allanol	OMIM: 602121 HomoloGene: 129567 GeneCards: DIAPH1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • transmembrane transporter binding • GO:0001948, GO:0016582 protein binding • actin binding • signaling receptor binding • RNA binding Cydrannau o'r gell • cytoplasm • cytosol • cell projection • bilen • spindle • microtubule organizing center • ruffle membrane • mitotic spindle • Cytosgerbwd • Cellbilen • secretory granule membrane • ficolin-1-rich granule membrane • cnewyllyn cell Prosesau biolegol • actin filament organization • positive regulation of cell migration • regulation of release of sequestered calcium ion into cytosol • clyw • actin filament polymerization • regulation of microtubule-based process • protein localization to microtubule • cytoskeleton organization • regulation of cell shape • cellular component organization • actin cytoskeleton organization • cellular response to histamine • regulation of cell motility • neutrophil degranulation • regulation of cytoskeleton organization Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	1729	n/a
Ensembl	ENSG00000131504	n/a
UniProt	O60610	n/a
RefSeq (mRNA)	NM_001314007 NM_001079812 NM_005219	n/a
RefSeq (protein)	NP_001073280 NP_001300936 NP_005210	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 DIAPH1 yw DIAPH1 a elwir hefyd yn Protein diaphanous homolog 1 a Diaphanous related formin 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 5, band 5q31.3.

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 DIAPH1.

• DIA1
• DRF1
• DFNA1
• LFHL1
• SCBMS
• hDIA1

Llyfryddiaeth

• "Initiation of DNA replication requires actin dynamics and formin activity. ". EMBO J. 2017. PMID 28982779.
• "A novel missense variant in the DIAPH1 gene in a Korean family with autosomal dominant nonsyndromic hearing loss. ". Genes Genet Syst. 2017. PMID 28003573.
• "Diaphanous-related formin 1 as a target for tumor therapy. ". Biochem Soc Trans. 2016. PMID 27911711.
• "Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss. ". EMBO Mol Med. 2016. PMID 27707755.
• "Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.". Am J Med Genet A. 2016. PMID 26463574.