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
	2516
	n/a
	ENSG00000136931
	n/a
	Q13285
	n/a
	NM_004959
	n/a
	NP_004950; NP_004950.2
	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.^[2]

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.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] NR5A1 - Cronfa NCBI

[1]

[2]