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NPHP1

CANCER ATLAS

Gene description

 Nephronophthisis 1 (juvenile)

Protein class

 Disease related genes, Predicted intracellular proteins

Protein evidence

 Evidence at protein level
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Ovarian cancer

STAINING SUMMARY
HPA046093

GENE INFORMATION

Gene name

 NPHP1 (HGNC Symbol)

Synonyms

 JBTS4, NPH1, SLSN1

Description

 Nephronophthisis 1 (juvenile) (HGNC Symbol)

Entrez gene summary

 This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Chromosome

 2

Cytoband

 q13

Chromosome location (bp)

 110122311 - 110205066

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000144061 (version 83.38)

Entrez gene

 4867

UniProt

 O15259 (UniProt - Evidence at protein level)

neXtProt

 NX_O15259

Antibodypedia

 NPHP1 antibodies

PROTEIN BROWSER
NPHP1-001
NPHP1-002
NPHP1-003
NPHP1-004
NPHP1-007
NPHP1-010
NPHP1-011

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
NPHP1-001
ENSP00000376953
ENST00000393272
O15259 [Direct mapping]
Nephrocystin-1
Show all
   SCAMPI predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Show all
GO:0005198 [structural molecule activity]
GO:0005515 [protein binding]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005911 [cell-cell junction]
GO:0005912 [adherens junction]
GO:0005923 [bicellular tight junction]
GO:0006996 [organelle organization]
GO:0007165 [signal transduction]
GO:0007588 [excretion]
GO:0007632 [visual behavior]
GO:0016020 [membrane]
GO:0016337 [single organismal cell-cell adhesion]
GO:0030030 [cell projection organization]
GO:0030036 [actin cytoskeleton organization]
GO:0031514 [motile cilium]
GO:0032391 [photoreceptor connecting cilium]
GO:0048515 [spermatid differentiation]
GO:0060041 [retina development in camera-type eye]
Show all
 732 aa
83.3 kDa 		No 0
NPHP1-002
ENSP00000313169
ENST00000316534
O15259 [Direct mapping]
Nephrocystin-1
Show all
   SCAMPI predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Show all
GO:0005198 [structural molecule activity]
GO:0005515 [protein binding]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005911 [cell-cell junction]
GO:0005912 [adherens junction]
GO:0005923 [bicellular tight junction]
GO:0006996 [organelle organization]
GO:0007165 [signal transduction]
GO:0007588 [excretion]
GO:0007632 [visual behavior]
GO:0016020 [membrane]
GO:0016337 [single organismal cell-cell adhesion]
GO:0030030 [cell projection organization]
GO:0030036 [actin cytoskeleton organization]
GO:0031514 [motile cilium]
GO:0032391 [photoreceptor connecting cilium]
GO:0035869 [ciliary transition zone]
GO:0048515 [spermatid differentiation]
GO:0060041 [retina development in camera-type eye]
GO:0097546 [ciliary base]
Show all
 733 aa
83.4 kDa 		No 0
NPHP1-003
ENSP00000412351
ENST00000418527
C9J082 [Direct mapping]
Nephrocystin-1; Nephronophthisis 1 (Juvenile), isoform CRA_g
Show all
Predicted intracellular proteins
Show all
GO:0005929 [cilium]
Show all
 121 aa
14.3 kDa 		No 0
NPHP1-004
ENSP00000347452
ENST00000355301
O15259 [Direct mapping]
Nephrocystin-1
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Show all
GO:0005198 [structural molecule activity]
GO:0005515 [protein binding]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005911 [cell-cell junction]
GO:0005912 [adherens junction]
GO:0005923 [bicellular tight junction]
GO:0006996 [organelle organization]
GO:0007165 [signal transduction]
GO:0007588 [excretion]
GO:0007632 [visual behavior]
GO:0016020 [membrane]
GO:0016337 [single organismal cell-cell adhesion]
GO:0030030 [cell projection organization]
GO:0030036 [actin cytoskeleton organization]
GO:0031514 [motile cilium]
GO:0032391 [photoreceptor connecting cilium]
GO:0048515 [spermatid differentiation]
GO:0060041 [retina development in camera-type eye]
Show all
 614 aa
69.9 kDa 		No 0
NPHP1-007
ENSP00000402176
ENST00000417665
C9JNM7 [Direct mapping]
Nephrocystin-1
Show all
   MEMSAT-SVM predicted membrane proteins
   SCAMPI predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Show all
GO:0005515 [protein binding]
GO:0005929 [cilium]
Show all
 711 aa
81 kDa 		No 0
NPHP1-010
ENSP00000392562
ENST00000422492
H7C014 [Direct mapping]
Nephrocystin-1
Show all
Predicted intracellular proteins
Show all
GO:0005929 [cilium]
Show all
 47 aa
5.3 kDa 		No 0
NPHP1-011
ENSP00000389879
ENST00000445609
O15259 [Direct mapping]
Nephrocystin-1
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Show all
GO:0005198 [structural molecule activity]
GO:0005515 [protein binding]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005911 [cell-cell junction]
GO:0005912 [adherens junction]
GO:0005923 [bicellular tight junction]
GO:0006996 [organelle organization]
GO:0007165 [signal transduction]
GO:0007588 [excretion]
GO:0007632 [visual behavior]
GO:0016020 [membrane]
GO:0016337 [single organismal cell-cell adhesion]
GO:0030030 [cell projection organization]
GO:0030036 [actin cytoskeleton organization]
GO:0031514 [motile cilium]
GO:0032391 [photoreceptor connecting cilium]
GO:0048515 [spermatid differentiation]
GO:0060041 [retina development in camera-type eye]
Show all
 677 aa
77 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.