NPHP1 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0090251Biological processprotein localization involved in establishment of planar polarity
GO_0048515Biological processspermatid differentiation
GO_0007165Biological processsignal transduction
GO_0060041Biological processretina development in camera-type eye
GO_1903348Biological processpositive regulation of bicellular tight junction assembly
GO_0030030Biological processcell projection organization
GO_0030036Biological processactin cytoskeleton organization
GO_0098609Biological processcell-cell adhesion
GO_0007632Biological processvisual behavior
GO_0005856Cellular componentcytoskeleton
GO_0032391Cellular componentphotoreceptor connecting cilium
GO_0016020Cellular componentmembrane
GO_0031514Cellular componentmotile cilium
GO_0005911Cellular componentcell-cell junction
GO_0005929Cellular componentcilium
GO_0005829Cellular componentcytosol
GO_0005912Cellular componentadherens junction
GO_0005737Cellular componentcytoplasm
GO_0005923Cellular componentbicellular tight junction
GO_0005198Molecular functionstructural molecule activity
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameNPHP1
Protein nameNephrocystin 1 (Nephronophthisis 1 (Juvenile), isoform CRA_g)
Nephrocystin 1 (Nephronophthisis 1 (Juvenile), isoform CRA_e)
Nephrocystin 1
Nephrocystin-1 (Juvenile nephronophthisis 1 protein)
SynonymsNPH1
hCG_1988612
DescriptionFUNCTION: Together with BCAR1 it may play a role in the control of epithelial cell polarity (By similarity). Involved in the organization of apical junctions in kidney cells together with NPHP4 and RPGRIP1L/NPHP8 (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity). Seems to help to recruit PTK2B/PYK2 to cell matrix adhesions, thereby initiating phosphorylation of PTK2B/PYK2 and PTK2B/PYK2-dependent signaling (By similarity). May play a role in the regulation of intraflagellar transport (IFT) during cilia assembly. Required for normal retina development (By similarity). In connecting photoreceptor cilia influences the movement of some IFT proteins such as IFT88 and WDR19. Involved in spermatogenesis (By similarity). .

AccessionsA0A6Q8PH10
ENST00000316534.8 [O15259-4]
ENST00000417665.5
ENST00000445609.7 [O15259-2]
H7C014
H7C2K4
A0A6Q8PHS3
ENST00000676053.1 [O15259-3]
C9JNM7
ENST00000676028.1
ENST00000675067.1
ENST00000355301.8 [O15259-3]
ENST00000449600.1
ENST00000393272.7 [O15259-1]
ENST00000422492.1
C9J082
ENST00000674677.1
ENST00000676091.1
A0A6Q8PGI7
ENST00000418527.1
O15259
A0A6Q8PHD4