Gene Symbol | NPHP1 |
Entrez ID | 4867 |
Uniprot ID | O15259 |
Description | nephronophthisis 1 (juvenile) |
Chromosomal Location | chr2: 110,122,311-110,205,066 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0007165 |
signal transduction |
The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
NAS |
BP |
GO:0007588 |
excretion |
The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds. |
TAS |
BP |
GO:0007632 |
visual behavior |
The behavior of an organism in response to a visual stimulus. |
NAS |
BP |
GO:0016337 |
single organismal cell-cell adhesion |
The attachment of one cell to another cell via adhesion molecules, where both cells are part of the same organism. |
NAS |
BP |
GO:0030030 |
cell projection organization |
A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon. |
ISS |
BP |
GO:0030036 |
actin cytoskeleton organization |
A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
NAS |
BP |
GO:0048515 |
spermatid differentiation |
The process whose specific outcome is the progression of a spermatid over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. |
ISS |
BP |
GO:0060041 |
retina development in camera-type eye |
The process whose specific outcome is the progression of the retina over time, from its formation to the mature structure. The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates. |
ISS |
BP |
GO:1903348 |
positive regulation of bicellular tight junction assembly |
Any process that activates or increases the frequency, rate or extent of tight junction assembly. |
IMP |
CC |
GO:0005829 |
cytosol |
The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
TAS |
CC |
GO:0005856 |
cytoskeleton |
Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
IEA |
CC |
GO:0005911 |
cell-cell junction |
A cell junction that forms a connection between two or more cells in a multicellular organism; excludes direct cytoplasmic junctions such as ring canals. |
IDA |
CC |
GO:0005912 |
adherens junction |
A cell junction at which anchoring proteins (cadherins or integrins) extend through the plasma membrane and are attached to actin filaments. |
IEA |
CC |
GO:0005923 |
bicellular tight junction |
An occluding cell-cell junction that is composed of a branching network of sealing strands that completely encircles the apical end of each cell in an epithelial sheet; the outer leaflets of the two interacting plasma membranes are seen to be tightly apposed where sealing strands are present. Each sealing strand is composed of a long row of transmembrane adhesion proteins embedded in each of the two interacting plasma membranes. |
IEA |
CC |
GO:0016020 |
membrane |
A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
NAS |
CC |
GO:0031514 |
motile cilium |
A cilium which has a variable arrangement of axonemal microtubules, contains molecular motors, and beats with a characteristic whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface. Motile cilia are typically found in multiple copies on epithelial cells that line the lumenal ducts of various tissues. Motile cilia may also function as sensory organelles. |
IDA |
CC |
GO:0032391 |
photoreceptor connecting cilium |
A nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the photoreceptor inner and outer segments. |
ISS |
MF |
GO:0005198 |
structural molecule activity |
The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell. |
NAS |
MF |
GO:0005515 |
protein binding |
Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules). |
IPI |
Domain ID | Description |
---|---|
IPR001452 |
SH3 domain |
IPR030642 |
Nephrocystin-1, SH3 domain |
UMLS CUI | UMLS Term |
---|---|
C0022658 |
Kidney Diseases |
C0752166 |
Bardet-Biedl Syndrome |
Pubmed ID | Author | Year | Title |
---|---|---|---|
22617121 |
Ouandaogo et al. |
2012 |
Differences in transcriptomic profiles of human cumulus cells isolated from oocytes at GV, MI and MII stages after in vivo andin vitro oocyte maturation |
22789864 |
Yan et al. |
2012 |
Expression of apoptosis-related genes in the endometrium of polycystic ovary syndrome patients during the window of implantation |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
ATP2B1 |
490 |
P20020 |
0.49 |
CBL |
867 |
P22681 |
0.49 |
CLTC |
1213 |
Q00610 |
0.49 |
COPA |
1314 |
P53621 |
0.49 |
DBT |
1629 |
P11182 |
0.49 |
DYNC1H1 |
1778 |
Q14204 |
0.49 |
DNM2 |
1785 |
P50570 |
0.49 |
FKBP4 |
2288 |
Q02790 |
0.49 |
FLII |
2314 |
Q13045 |
0.49 |
GARS |
2617 |
P41250 |
0.49 |
HK1 |
3098 |
P19367 |
0.49 |
IDH3B |
3420 |
O43837 |
0.49 |
NARS |
4677 |
O43776 |
0.49 |
NDUFS3 |
4722 |
O75489 |
0.49 |
NDUFV1 |
4723 |
P49821 |
0.49 |
POLR2E |
5434 |
P19388 |
0.49 |
PSMD7 |
5713 |
P51665 |
0.49 |
RAB6A |
5870 |
P20340 |
0.49 |
SRSF2 |
6427 |
Q01130 |
0.49 |
UQCRC1 |
7384 |
P31930 |
0.49 |
PRRC2A |
7916 |
P48634 |
0.49 |
UXT |
8409 |
Q9UBK9 |
0.49 |
URI1 |
8725 |
O94763 |
0.49 |
IQGAP1 |
8826 |
P46940 |
0.49 |
BAG2 |
9532 |
O95816 |
0.49 |
CEP170 |
9859 |
Q5SW79 |
0.49 |
PSMD14 |
10213 |
O00487 |
0.49 |
HYOU1 |
10525 |
Q9Y4L1 |
0.49 |
KDELR2 |
11014 |
P33947 |
0.49 |
RAB35 |
11021 |
Q15286 |
0.49 |
SEC23IP |
11196 |
Q9Y6Y8 |
0.49 |
SEC63 |
11231 |
Q9UGP8 |
0.49 |
ECD |
11319 |
O95905 |
0.49 |
RAB3GAP1 |
22930 |
Q15042 |
0.49 |
XPO7 |
23039 |
Q9UIA9 |
0.49 |
TNRC6B |
23112 |
Q9UPQ9 |
0.49 |
TTLL12 |
23170 |
Q14166 |
0.49 |
DNMBP |
23268 |
Q6XZF7 |
0.49 |
RPGRIP1L |
23322 |
Q68CZ1 |
0.49 |
USP22 |
23326 |
Q9UPT9 |
0.49 |
NUDCD3 |
23386 |
Q8IVD9 |
0.49 |
NNT |
23530 |
Q13423 |
0.49 |
MOB4 |
25843 |
Q9Y3A3 |
0.49 |
CHTOP |
26097 |
Q9Y3Y2 |
0.49 |
CACYBP |
27101 |
Q9HB71 |
0.49 |
SNX9 |
51429 |
Q9Y5X1 |
0.49 |
BCAS3 |
54828 |
Q9H6U6 |
0.49 |
PIH1D1 |
55011 |
Q9NWS0 |
0.49 |
GPATCH1 |
55094 |
Q9BRR8 |
0.49 |
WDR41 |
55255 |
Q9HAD4 |
0.49 |
AGK |
55750 |
Q53H12 |
0.49 |
UNC45A |
55898 |
Q9H3U1 |
0.49 |
BAIAP2L1 |
55971 |
Q9UHR4 |
0.49 |
TM9SF3 |
56889 |
Q9HD45 |
0.49 |
TMEM237 |
65062 |
Q96Q45 |
0.49 |
PHACTR4 |
65979 |
Q8IZ21 |
0.49 |
RPAP3 |
79657 |
Q9H6T3 |
0.49 |
PDRG1 |
81572 |
Q9NUG6 |
0.49 |
HSDL2 |
84263 |
Q6YN16 |
0.49 |
WDR83 |
84292 |
Q9BRX9 |
0.49 |
FCHO2 |
115548 |
Q0JRZ9 |
0.49 |
WDR92 |
116143 |
Q96MX6 |
0.49 |
SH3D19 |
152503 |
Q5HYK7 |
0.49 |
TMEM256 |
254863 |
Q8N2U0 |
0.49 |
TUBB2A |
7280 |
Q13885 |
0.59 |
ARHGAP32 |
9743 |
A7KAX9 |
0.63 |
CEP164 |
22897 |
Q9UPV0 |
0.63 |
ASAP1 |
50807 |
Q9ULH1 |
0.63 |
UBQLN4 |
56893 |
Q9NRR5 |
0.63 |
MED28 |
80306 |
Q9H204 |
0.72 |
TUBB |
203068 |
P07437 |
0.74 |
FLNB |
2317 |
O75369 |
0.77 |
FLNC |
2318 |
Q14315 |
0.77 |
TNS1 |
7145 |
Q9HBL0 |
0.82 |
TNK2 |
10188 |
Q07912 |
0.84 |
NPHP3 |
27031 |
Q7Z494 |
0.84 |
NPHP1 |
4867 |
O15259 |
0.85 |
INVS |
27130 |
Q9Y283 |
0.85 |
NPHP4 |
261734 |
O75161 |
0.85 |
FLNA |
2316 |
P21333 |
0.87 |
PTK2B |
2185 |
Q14289 |
0.88 |
BCAR1 |
9564 |
P56945 |
0.95 |
KHDRBS1 |
10657 |
Q07666 |
0.49 |
CEP128 |
145508 |
Q6ZU80 |
0.49 |
PAK2 |
5062 |
Q13177 |
0.52 |
AHI1 |
54806 |
Q8N157 |
0.67 |
ADAM15 |
8751 |
Q13444 |
0.76 |
PKD1 |
5310 |
P98161 |
0.78 |