ISCU

ISCU
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1WFZ
Dynodwyr
Cyfenwau	ISCU, 2310020H20Rik, HML, ISU2, NIFU, NIFUN, hnifU, iron-sulfur cluster assembly enzyme
Dynodwyr allanol	OMIM: 611911 HomoloGene: 6991 GeneCards: ISCU
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • iron ion binding • GO:0032947 molecular adaptor activity • 4 iron, 4 sulfur cluster binding • iron-sulfur cluster binding • ferrous iron binding • GO:0001948, GO:0016582 protein binding • metal ion binding • iron-sulfur transferase activity • 2 iron, 2 sulfur cluster binding Cydrannau o'r gell • cytoplasm • cytosol • mitochondrial matrix • mitocondria • cnewyllyn cell Prosesau biolegol • protein maturation by iron-sulfur cluster transfer • small molecule metabolic process • iron-sulfur cluster assembly • cellular iron ion homeostasis • positive regulation of mitochondrial electron transport, NADH to ubiquinone • positive regulation of aconitate hydratase activity • negative regulation of iron ion import across plasma membrane Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	23479	n/a
Ensembl	ENSG00000136003	n/a
UniProt	Q9H1K1	n/a
RefSeq (mRNA)	NM_001301140 NM_001301141 NM_014301 NM_213595 NM_001320042	n/a
RefSeq (protein)	NP_001288069 NP_001288070 NP_001306971 NP_055116 NP_998760	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 ISCU yw ISCU a elwir hefyd yn Iron-sulfur cluster assembly enzyme (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 12, band 12q23.3.

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 ISCU.

• HML
• ISU2
• NIFU
• NIFUN
• hnifU
• 2310020H20Rik

Llyfryddiaeth

• Myopathy with Deficiency of ISCU. 1993. PMID 20301757.
• "Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy. ". Biochim Biophys Acta. 2010. PMID 20206689.
• "Functional Analysis of GLRX5 Mutants Reveals Distinct Functionalities of GLRX5 Protein. ". J Cell Biochem. 2016. PMID 26100117.
• "The Human Iron-Sulfur Assembly Complex Catalyzes the Synthesis of [2Fe-2S] Clusters on ISCU2 That Can Be Transferred to Acceptor Molecules. ". Biochemistry. 2015. PMID 26016389.
• "Tissue specificity of a human mitochondrial disease: differentiation-enhanced mis-splicing of the Fe-S scaffold gene ISCU renders patient cells more sensitive to oxidative stress in ISCU myopathy.". J Biol Chem. 2012. PMID 23035118.