NR5A1

NR5A1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1YOW, 1ZDT, 4QJR, 4QK4
Dynodwyr
Cyfenwau	NR5A1, AD4BP, ELP, FTZ1, FTZF1, POF7, SF-1, SF1, SPGF8, SRXY3, hSF-1, nuclear receptor subfamily 5 group A member 1, SRXX4
Dynodwyr allanol	OMIM: 184757 HomoloGene: 3638 GeneCards: NR5A1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • GO:0001948, GO:0016582 protein binding • zinc ion binding • lipid binding • double-stranded DNA binding • enzyme binding • transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding • steroid hormone receptor activity • GO:0001105 transcription coactivator activity • phospholipid binding • metal ion binding • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding • DNA binding • chromatin binding • RNA polymerase II transcription regulatory region sequence-specific DNA binding • GO:0038050, GO:0004886, GO:0038051 nuclear receptor activity • sequence-specific DNA binding • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific • GO:0000975 transcription cis-regulatory region binding Cydrannau o'r gell • nucleoplasm • RNA polymerase II transcription regulator complex • cnewyllyn cell Prosesau biolegol • GO:0044324, GO:0003256, GO:1901213, GO:0046019, GO:0046020, GO:1900094, GO:0061216, GO:0060994, GO:1902064, GO:0003258, GO:0072212 regulation of transcription by RNA polymerase II • GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated • regulation of steroid biosynthetic process • hormone metabolic process • luteinization • reproductive process • primary sex determination • tissue development • multicellular organism aging • cell differentiation • maintenance of protein location in nucleus • GO:0009373 regulation of transcription, DNA-templated • adrenal gland development • transcription, DNA-templated • steroid hormone mediated signaling pathway • cell-cell signaling • transcription by RNA polymerase II • negative regulation of female gonad development • transcription initiation from RNA polymerase II promoter • positive regulation of male gonad development • intracellular receptor signaling pathway • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II • sex-determination system • male gonad development • female gonad development • GO:1901313 positive regulation of gene expression • hormone-mediated signaling pathway • calcineurin-mediated signaling • response to gonadotropin-releasing hormone • male sex determination Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	2516	n/a
Ensembl	ENSG00000136931	n/a
UniProt	Q13285	n/a
RefSeq (mRNA)	NM_004959	n/a
RefSeq (protein)	NP_004950 NP_004950.2	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 NR5A1 yw NR5A1 a elwir hefyd yn Steroidogenic factor 1 nuclear receptor a Nuclear receptor subfamily 5 group A member 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 9, band 9q33.3.

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 NR5A1.

• ELP
• SF1
• FTZ1
• POF7
• SF-1
• AD4BP
• FTZF1
• SPGF8
• SRXX4
• SRXY3
• hSF-1

Llyfryddiaeth

• "Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals. ". Birth Defects Res C Embryo Today. 2016. PMID 28033660.
• "Anomalies in human sex determination provide unique insights into the complex genetic interactions of early gonad development. ". Clin Genet. 2017. PMID 27893151.
• "Functional Characterization of c.870+3_6delGAGT Splice Site Mutation in NR5A1. ". Horm Res Paediatr. 2016. PMID 26406169.
• "Two novel mutations in the NR5A1 gene as a cause of disorders of sex development in a Pakistani cohort of 46,XY patients. ". Andrologia. 2016. PMID 26260161.
• "Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency.". Horm Res Paediatr. 2015. PMID 26139438.