Protein Description

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

No pathways found.

UMLS CUI UMLS Term

C0022658

Kidney Diseases

C0752166

Bardet-Biedl Syndrome

No tissues found.

No databases found.

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