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
	4867
	n/a
	ENSG00000144061
	n/a
	O15259
	n/a
NM_000272; NM_001128178; NM_001128179; NM_207181; NM_001374256;
	NM_001374257
	n/a
NP_000263; NP_001121650; NP_001121651; NP_997064; NP_001361185;
	NP_001361186
	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.^[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 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.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] NPHP1 - Cronfa NCBI

[1]

[2]