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NPHP1
HPA
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  • NPHP1
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

NPHP1
Synonyms JBTS4, NPH1, SLSN1
Gene descriptioni

Full gene name according to HGNC.

Nephrocystin 1
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Human disease related genes
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 2
Cytoband q13
Chromosome location (bp) 110122311 - 110205066
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

12
Ensembl ENSG00000144061 (version 109)
Entrez gene 4867
HGNC HGNC:7905
UniProt O15259 (UniProt - Evidence at protein level)
neXtProt NX_O15259
GeneCards NPHP1
Antibodypedia NPHP1 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

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).... show less
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Cilium biogenesis/degradation, Differentiation, Spermatogenesis
Gene summary (Entrez)i

Useful information about the gene from Entrez

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]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
NPHP1-201
ENSP00000313169
ENST00000316534
O15259
[Direct mapping] Nephrocystin-1
Show all
   SCAMPI predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0005198 [structural molecule activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005911 [cell-cell junction]
GO:0005912 [adherens junction]
GO:0005923 [bicellular tight junction]
GO:0005929 [cilium]
GO:0007165 [signal transduction]
GO:0007283 [spermatogenesis]
GO:0007632 [visual behavior]
GO:0016020 [membrane]
GO:0030030 [cell projection organization]
GO:0030036 [actin cytoskeleton organization]
GO:0030154 [cell differentiation]
GO:0031514 [motile cilium]
GO:0032391 [photoreceptor connecting cilium]
GO:0042995 [cell projection]
GO:0048515 [spermatid differentiation]
GO:0060041 [retina development in camera-type eye]
GO:0070161 [anchoring junction]
GO:0090251 [protein localization involved in establishment of planar polarity]
GO:0098609 [cell-cell adhesion]
GO:1903348 [positive regulation of bicellular tight junction assembly]
Show all
733 aa
83.4 kDa
No 0
NPHP1-202
ENSP00000347452
ENST00000355301
O15259
[Direct mapping] Nephrocystin-1
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0005198 [structural molecule activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005911 [cell-cell junction]
GO:0005912 [adherens junction]
GO:0005923 [bicellular tight junction]
GO:0005929 [cilium]
GO:0007165 [signal transduction]
GO:0007283 [spermatogenesis]
GO:0007632 [visual behavior]
GO:0016020 [membrane]
GO:0030030 [cell projection organization]
GO:0030036 [actin cytoskeleton organization]
GO:0030154 [cell differentiation]
GO:0031514 [motile cilium]
GO:0032391 [photoreceptor connecting cilium]
GO:0042995 [cell projection]
GO:0048515 [spermatid differentiation]
GO:0060041 [retina development in camera-type eye]
GO:0070161 [anchoring junction]
GO:0090251 [protein localization involved in establishment of planar polarity]
GO:0098609 [cell-cell adhesion]
GO:1903348 [positive regulation of bicellular tight junction assembly]
Show all
614 aa
69.9 kDa
No 0
NPHP1-203
ENSP00000376953
ENST00000393272
O15259
[Direct mapping] Nephrocystin-1
Show all
   SCAMPI predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0005198 [structural molecule activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005911 [cell-cell junction]
GO:0005912 [adherens junction]
GO:0005923 [bicellular tight junction]
GO:0005929 [cilium]
GO:0007165 [signal transduction]
GO:0007283 [spermatogenesis]
GO:0007632 [visual behavior]
GO:0016020 [membrane]
GO:0030030 [cell projection organization]
GO:0030036 [actin cytoskeleton organization]
GO:0030154 [cell differentiation]
GO:0031514 [motile cilium]
GO:0032391 [photoreceptor connecting cilium]
GO:0042995 [cell projection]
GO:0048515 [spermatid differentiation]
GO:0060041 [retina development in camera-type eye]
GO:0070161 [anchoring junction]
GO:0090251 [protein localization involved in establishment of planar polarity]
GO:0098609 [cell-cell adhesion]
GO:1903348 [positive regulation of bicellular tight junction assembly]
Show all
732 aa
83.3 kDa
No 0
NPHP1-204
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
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Show all
GO:0005515 [protein binding]
Show all
711 aa
81 kDa
No 0
NPHP1-205
ENSP00000412351
ENST00000418527
C9J082
[Direct mapping] Nephrocystin-1; Nephronophthisis 1 (Juvenile), isoform CRA_g
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Show all
GO:0005515 [protein binding]
Show all
121 aa
14.3 kDa
No 0
NPHP1-206
ENSP00000392562
ENST00000422492
H7C014
[Direct mapping] Nephrocystin-1
Show all
   DeepTMHMM predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Show all
47 aa
5.3 kDa
No 0
NPHP1-207
ENSP00000389879
ENST00000445609
O15259
[Direct mapping] Nephrocystin-1
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0005198 [structural molecule activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005911 [cell-cell junction]
GO:0005912 [adherens junction]
GO:0005923 [bicellular tight junction]
GO:0005929 [cilium]
GO:0007165 [signal transduction]
GO:0007283 [spermatogenesis]
GO:0007632 [visual behavior]
GO:0016020 [membrane]
GO:0030030 [cell projection organization]
GO:0030036 [actin cytoskeleton organization]
GO:0030154 [cell differentiation]
GO:0031514 [motile cilium]
GO:0032391 [photoreceptor connecting cilium]
GO:0042995 [cell projection]
GO:0048515 [spermatid differentiation]
GO:0060041 [retina development in camera-type eye]
GO:0070161 [anchoring junction]
GO:0090251 [protein localization involved in establishment of planar polarity]
GO:0098609 [cell-cell adhesion]
GO:1903348 [positive regulation of bicellular tight junction assembly]
Show all
677 aa
77 kDa
No 0
NPHP1-212
ENSP00000502265
ENST00000674677
A0A6Q8PGI7
[Direct mapping] Nephrocystin-1
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Show all
GO:0005515 [protein binding]
Show all
609 aa
68.9 kDa
No 0
NPHP1-213
ENSP00000502817
ENST00000675067
A0A6Q8PHS3
[Direct mapping] Nephrocystin-1; Nephronophthisis 1 (Juvenile), isoform CRA_e
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Show all
410 aa
46.7 kDa
No 0
NPHP1-218
ENSP00000502639
ENST00000676028
A0A6Q8PHD4
[Direct mapping] Nephrocystin-1
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Show all
GO:0005515 [protein binding]
Show all
616 aa
70.2 kDa
No 0
NPHP1-219
ENSP00000502475
ENST00000676053
O15259
[Direct mapping] Nephrocystin-1
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0005198 [structural molecule activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005911 [cell-cell junction]
GO:0005912 [adherens junction]
GO:0005923 [bicellular tight junction]
GO:0005929 [cilium]
GO:0007165 [signal transduction]
GO:0007283 [spermatogenesis]
GO:0007632 [visual behavior]
GO:0016020 [membrane]
GO:0030030 [cell projection organization]
GO:0030036 [actin cytoskeleton organization]
GO:0030154 [cell differentiation]
GO:0031514 [motile cilium]
GO:0032391 [photoreceptor connecting cilium]
GO:0042995 [cell projection]
GO:0048515 [spermatid differentiation]
GO:0060041 [retina development in camera-type eye]
GO:0070161 [anchoring junction]
GO:0090251 [protein localization involved in establishment of planar polarity]
GO:0098609 [cell-cell adhesion]
GO:1903348 [positive regulation of bicellular tight junction assembly]
Show all
614 aa
69.9 kDa
No 0
NPHP1-220
ENSP00000502528
ENST00000676091
A0A6Q8PH10
[Direct mapping] Nephrocystin-1
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Show all
409 aa
46.5 kDa
No 0

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