NR0B1

NR0B1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 4RWV
Dynodwyr
Cyfenwau	NR0B1, AHC, AHCH, AHX, DAX-1, DAX1, DSS, GTD, HHG, NROB1, SRXY2, nuclear receptor subfamily 0 group B member 1, Dax1
Dynodwyr allanol	OMIM: 300473 HomoloGene: 403 GeneCards: NR0B1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • protein domain specific binding • sequence-specific DNA binding • protein homodimerization activity • RNA binding • GO:0038050, GO:0004886, GO:0038051 nuclear receptor activity • AF-2 domain binding • DNA binding • DNA hairpin binding • steroid hormone receptor activity • GO:0001948, GO:0016582 protein binding • GO:0001106 transcription corepressor activity • transcription factor binding • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cydrannau o'r gell • cytoplasm • cnewyllyn cell • bilen • polysomal ribosome • nucleoplasm • microtubule organizing center • nuclear speck • intracellular membrane-bounded organelle Prosesau biolegol • sex-determination system • spermatogenesis • negative regulation of DNA-binding transcription factor activity • transcription, DNA-templated • response to immobilization stress • pituitary gland development • gonad development • Leydig cell differentiation • steroid hormone mediated signaling pathway • transcription initiation from RNA polymerase II promoter • GO:0034613 protein localization • hypothalamus development • negative regulation of cell differentiation • male sex determination • Sertoli cell differentiation • negative regulation of intracellular steroid hormone receptor signaling pathway • GO:0009373 regulation of transcription, DNA-templated • cell differentiation • steroid biosynthetic process • male gonad development • adrenal gland development • GO:0045996 negative regulation of transcription, DNA-templated • intracellular receptor signaling pathway • GO:1901227 negative regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	190	n/a
Ensembl	ENSG00000169297	n/a
UniProt	P51843	n/a
RefSeq (mRNA)	NM_000475	n/a
RefSeq (protein)	NP_000466 NP_000466.2	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 NR0B1 yw NR0B1 a elwir hefyd yn Nuclear receptor DAX1 a Nuclear receptor subfamily 0 group B 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 X dynol, band Xp21.2.

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 NR0B1.

• AHC
• AHX
• DSS
• GTD
• HHG
• AHCH
• DAX1
• DAX-1
• NROB1
• SRXY2

Llyfryddiaeth

• "A novel DAX-1 mutation in two male siblings presenting with precocious puberty and late-onset hypogonadotropic hypogonadism. ". J Pediatr Endocrinol Metab. 2017. PMID 28284037.
• "X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: Identification and in vitro study of a novel small indel in the NR0B1 gene. ". Mol Med Rep. 2016. PMID 27035099.
• "A Novel Mutation of DAX-1 Associated with Secretory Azoospermia. ". PLoS One. 2015. PMID 26207377.
• "DAX-1 Expression in Pediatric Rhabdomyosarcomas: Another Immunohistochemical Marker Useful in the Diagnosis of Translocation Positive Alveolar Rhabdomyosarcoma. ". PLoS One. 2015. PMID 26168243.
• "Novel mutations of DAX1 (NR0B1) in two Chinese families with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.". J Pediatr Endocrinol Metab. 2015. PMID 25968435.