NPHP1

NPHP1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1S1N
Dynodwyr
Cyfenwau	NPHP1, JBTS4, NPH1, SLSN1, nephrocystin 1
Dynodwyr allanol	OMIM: 607100 HomoloGene: 229 GeneCards: NPHP1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • structural molecule activity • GO:0001948, GO:0016582 protein binding Cydrannau o'r gell • cytoplasm • cytosol • cell projection • bilen • cell-cell junction • bicellular tight junction • adherens junction • cilium • photoreceptor connecting cilium • cell junction • motile cilium • Cytosgerbwd • ciliary transition zone Prosesau biolegol • cell differentiation • Ysgarthu • spermatid differentiation • cell projection organization • retina development in camera-type eye • spermatogenesis • actin cytoskeleton organization • GO:0072468 signal transduction • visual behavior • positive regulation of bicellular tight junction assembly • ciliary basal body-plasma membrane docking • cell-cell adhesion Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	4867	n/a
Ensembl	ENSG00000144061	n/a
UniProt	O15259	n/a
RefSeq (mRNA)	NM_000272 NM_001128178 NM_001128179 NM_207181 NM_001374256 NM_001374257	n/a
RefSeq (protein)	NP_000263 NP_001121650 NP_001121651 NP_997064 NP_001361185 NP_001361186	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 NPHP1 yw NPHP1 a elwir hefyd yn Nephrocystin 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 2, band 2q13.

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 NPHP1.

• NPH1
• JBTS4
• SLSN1

Llyfryddiaeth

• "Brothers with ocular motor apraxia, juvenile nephronophthisis, and mild cerebellar defects. ". Can J Ophthalmol. 2016. PMID 27316287.
• "Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates. ". PLoS Genet. 2015. PMID 26641089.
• "Expression profiles of NPHP1 in the germ cells in the semen of men with male factor infertility. ". Andrology. 2015. PMID 26198798.
• "Identification of an NPHP1 deletion causing adult form of nephronophthisis. ". Ir J Med Sci. 2016. PMID 26037636.
• "Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis.". J AAPOS. 2013. PMID 23683649.