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O75161

- NPHP4_HUMAN

UniProt

O75161 - NPHP4_HUMAN

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Protein

Nephrocystin-4

Gene

NPHP4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Involved in the organization of apical junctions in kidney cells together with NPHP1 and RPGRIP1L/NPHP8. Does not seem to be strictly required for ciliogenesis.By similarity

GO - Molecular functioni

  1. structural molecule activity Source: UniProtKB

GO - Biological processi

  1. actin cytoskeleton organization Source: UniProtKB
  2. hippo signaling Source: Reactome
  3. negative regulation of canonical Wnt signaling pathway Source: InterPro
  4. retina development in camera-type eye Source: Ensembl
  5. signal transduction Source: UniProtKB
  6. single organismal cell-cell adhesion Source: UniProtKB
  7. visual behavior Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_118607. Signaling by Hippo.

Names & Taxonomyi

Protein namesi
Recommended name:
Nephrocystin-4
Alternative name(s):
Nephroretinin
Gene namesi
Name:NPHP4
Synonyms:KIAA0673
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:19104. NPHP4.

Subcellular locationi

Cytoplasmcytoskeletoncilium basal body. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Cell junctiontight junction
Note: In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates to basolateral tight junctions.

GO - Cellular componenti

  1. cell-cell junction Source: UniProtKB
  2. centrosome Source: UniProtKB
  3. cytosol Source: Reactome
  4. membrane Source: UniProtKB
  5. nonmotile primary cilium Source: InterPro
  6. tight junction Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell projection, Cilium, Cytoplasm, Cytoskeleton, Tight junction

Pathology & Biotechi

Involvement in diseasei

Nephronophthisis 4 (NPHP4) [MIM:606966]: An autosomal recessive inherited disease resulting in end-stage renal disease at age ranging between 6 and 35 years. It is a progressive tubulo-interstitial kidney disorder characterized by polydipsia, polyuria, anemia and growth retardation. The most prominent histological features are modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti342 – 3421R → C in NPHP4. 1 Publication
Corresponds to variant rs190940697 [ dbSNP | Ensembl ].
VAR_022529
Natural varianti469 – 4691R → W in NPHP4. 1 Publication
VAR_022530
Natural varianti654 – 6541A → G in NPHP4. 1 Publication
VAR_022534
Natural varianti735 – 7351R → W in NPHP4. 1 Publication
Corresponds to variant rs191913664 [ dbSNP | Ensembl ].
VAR_022535
Natural varianti754 – 7541G → R in NPHP4; affects interaction with RPGRIP1L. 1 Publication
VAR_015214
Natural varianti766 – 7661Q → R in NPHP4; with color blindness. 1 Publication
VAR_022538
Natural varianti776 – 7761P → R in NPHP4. 1 Publication
Corresponds to variant rs201527181 [ dbSNP | Ensembl ].
VAR_022539
Natural varianti782 – 7821H → Q in NPHP4. 1 Publication
VAR_022540
Natural varianti961 – 9611R → H in NPHP4. 1 Publication
Corresponds to variant rs183885357 [ dbSNP | Ensembl ].
VAR_022543
Natural varianti991 – 9911F → S in NPHP4. 1 Publication
Corresponds to variant rs28940891 [ dbSNP | Ensembl ].
VAR_015186
Natural varianti1098 – 10981A → T in NPHP4. 1 Publication
Corresponds to variant rs41280798 [ dbSNP | Ensembl ].
VAR_022544
Natural varianti1192 – 11921R → W in NPHP4. 1 Publication
Corresponds to variant rs139022622 [ dbSNP | Ensembl ].
VAR_022545
Natural varianti1284 – 12841R → C in NPHP4. 1 Publication
VAR_022547
Natural varianti1287 – 12871Q → E in NPHP4; with hearing loss. 1 Publication
VAR_022548
Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including NPHP4, influence the clinical outcome.
Senior-Loken syndrome 4 (SLSN4) [MIM:606996]: A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti3 – 31D → Y in SLSN4. 1 Publication
Corresponds to variant rs145078518 [ dbSNP | Ensembl ].
VAR_022526
Natural varianti91 – 911F → L in SLSN4. 1 Publication
VAR_022528
Natural varianti627 – 6271T → M in SLSN4. 1 Publication
Corresponds to variant rs199891059 [ dbSNP | Ensembl ].
VAR_022533
Natural varianti946 – 9461T → A in SLSN4. 1 Publication
VAR_022542
Natural varianti1225 – 12251T → M in SLSN4. 1 Publication
Corresponds to variant rs144624477 [ dbSNP | Ensembl ].
VAR_022546

Keywords - Diseasei

Ciliopathy, Disease mutation, Nephronophthisis, Senior-Loken syndrome

Organism-specific databases

MIMi606966. phenotype.
606996. phenotype.
Orphaneti93592. Juvenile autosomal recessive medullary cystic kidney disease.
3156. Senior-Loken syndrome.
PharmGKBiPA134927048.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 14261426Nephrocystin-4PRO_0000159769Add
BLAST

Proteomic databases

MaxQBiO75161.
PaxDbiO75161.
PRIDEiO75161.

PTM databases

PhosphoSiteiO75161.

Expressioni

Tissue specificityi

Expressed in kidney, skeletal muscle, heart and liver, and to a lesser extent in brain and lung.1 Publication

Gene expression databases

BgeeiO75161.
CleanExiHS_NPHP4.
ExpressionAtlasiO75161. baseline and differential.
GenevestigatoriO75161.

Interactioni

Subunit structurei

Interacts with NPHP1 and RPGRIP1L/NPHP8, and can bridge the interaction between those two proteins. Interacts with IQCB1; the interaction likely requires additional interactors. Interacts with RPGRIP1. Weakly interacts with CEP164.5 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
RPGRIP1LQ68CZ1-27EBI-4281852,EBI-9356215

Protein-protein interaction databases

BioGridi129286. 6 interactions.
IntActiO75161. 39 interactions.
STRINGi9606.ENSP00000367398.

Structurei

3D structure databases

ProteinModelPortaliO75161.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the NPHP4 family.Curated

Phylogenomic databases

eggNOGiNOG81663.
GeneTreeiENSGT00510000048827.
HOGENOMiHOG000049142.
HOVERGENiHBG024036.
InParanoidiO75161.
KOiK16478.
OMAiHMVRWAV.
PhylomeDBiO75161.
TreeFamiTF351573.

Family and domain databases

InterProiIPR029775. NPHP4.
[Graphical view]
PANTHERiPTHR31043:SF3. PTHR31043:SF3. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O75161-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MNDWHRIFTQ NVLVPPHPQR ARQPWKESTA FQCVLKWLDG PVIRQGVLEV
60 70 80 90 100
LSEVECHLRV SFFDVTYRHF FGRTWKTTVK PTKRPPSRIV FNEPLYFHTS
110 120 130 140 150
LNHPHIVAVV EVVAEGKKRD GSLQTLSCGF GILRIFSNQP DSPISASQDK
160 170 180 190 200
RLRLYHGTPR ALLHPLLQDP AEQNRHMTLI ENCSLQYTLK PHPALEPAFH
210 220 230 240 250
LLPENLLVSG LQQIPGLLPA HGESGDALRK PRLQKPITGH LDDLFFTLYP
260 270 280 290 300
SLEKFEEELL ELHVQDHFQE GCGPLDGGAL EILERRLRVG VHNGLGFVQR
310 320 330 340 350
PQVVVLVPEM DVALTRSASF SRKVVSSSKT SSGSQALVLR SRLRLPEMVG
360 370 380 390 400
HPAFAVIFQL EYVFSSPAGV DGNAASVTSL SNLACMHMVR WAVWNPLLEA
410 420 430 440 450
DSGRVTLPLQ GGIQPNPSHC LVYKVPSASM SSEEVKQVES GTLRFQFSLG
460 470 480 490 500
SEEHLDAPTE PVSGPKVERR PSRKPPTSPS SPPAPVPRVL AAPQNSPVGP
510 520 530 540 550
GLSISQLAAS PRSPTQHCLA RPTSQLPHGS QASPAQAQEF PLEAGISHLE
560 570 580 590 600
ADLSQTSLVL ETSIAEQLQE LPFTPLHAPI VVGTQTRSSA GQPSRASMVL
610 620 630 640 650
LQSSGFPEIL DANKQPAEAV SATEPVTFNP QKEESDCLQS NEMVLQFLAF
660 670 680 690 700
SRVAQDCRGT SWPKTVYFTF QFYRFPPATT PRLQLVQLDE AGQPSSGALT
710 720 730 740 750
HILVPVSRDG TFDAGSPGFQ LRYMVGPGFL KPGERRCFAR YLAVQTLQID
760 770 780 790 800
VWDGDSLLLI GSAAVQMKHL LRQGRPAVQA SHELEVVATE YEQDNMVVSG
810 820 830 840 850
DMLGFGRVKP IGVHSVVKGR LHLTLANVGH PCEQKVRGCS TLPPSRSRVI
860 870 880 890 900
SNDGASRFSG GSLLTTGSSR RKHVVQAQKL ADVDSELAAM LLTHARQGKG
910 920 930 940 950
PQDVSRESDA TRRRKLERMR SVRLQEAGGD LGRRGTSVLA QQSVRTQHLR
960 970 980 990 1000
DLQVIAAYRE RTKAESIASL LSLAITTEHT LHATLGVAEF FEFVLKNPHN
1010 1020 1030 1040 1050
TQHTVTVEID NPELSVIVDS QEWRDFKGAA GLHTPVEEDM FHLRGSLAPQ
1060 1070 1080 1090 1100
LYLRPHETAH VPFKFQSFSA GQLAMVQASP GLSNEKGMDA VSPWKSSAVP
1110 1120 1130 1140 1150
TKHAKVLFRA SGGKPIAVLC LTVELQPHVV DQVFRFYHPE LSFLKKAIRL
1160 1170 1180 1190 1200
PPWHTFPGAP VGMLGEDPPV HVRCSDPNVI CETQNVGPGE PRDIFLKVAS
1210 1220 1230 1240 1250
GPSPEIKDFF VIIYSDRWLA TPTQTWQVYL HSLQRVDVSC VAGQLTRLSL
1260 1270 1280 1290 1300
VLRGTQTVRK VRAFTSHPQE LKTDPKGVFV LPPRGVQDLH VGVRPLRAGS
1310 1320 1330 1340 1350
RFVHLNLVDV DCHQLVASWL VCLCCRQPLI SKAFEIMLAA GEGKGVNKRI
1360 1370 1380 1390 1400
TYTNPYPSRR TFHLHSDHPE LLRFREDSFQ VGGGETYTIG LQFAPSQRVG
1410 1420
EEEILIYIND HEDKNEEAFC VKVIYQ
Length:1,426
Mass (Da):157,598
Last modified:January 27, 2003 - v2
Checksum:i8C974278F4EE4505
GO
Isoform 2 (identifier: O75161-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     538-538: Missing.
     872-912: KHVVQAQKLA...DVSRESDATR → WALQATVLFG...NGEKVRRNID
     913-1426: Missing.

Note: No experimental confirmation available.

Show »
Length:911
Mass (Da):99,953
Checksum:i070AACB893EEDFC7
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti3 – 31D → Y in SLSN4. 1 Publication
Corresponds to variant rs145078518 [ dbSNP | Ensembl ].
VAR_022526
Natural varianti29 – 291T → M.1 Publication
Corresponds to variant rs12142270 [ dbSNP | Ensembl ].
VAR_022527
Natural varianti91 – 911F → L in SLSN4. 1 Publication
VAR_022528
Natural varianti160 – 1601R → L in a patient with nephronophthisis with extra-renal features; the patient also carries W-735 in the same gene and L-209 in TTC21B. 1 Publication
VAR_065557
Natural varianti342 – 3421R → C in NPHP4. 1 Publication
Corresponds to variant rs190940697 [ dbSNP | Ensembl ].
VAR_022529
Natural varianti469 – 4691R → W in NPHP4. 1 Publication
VAR_022530
Natural varianti544 – 5441A → G.1 Publication
Corresponds to variant rs12093500 [ dbSNP | Ensembl ].
VAR_022531
Natural varianti618 – 6181E → K.1 Publication
Corresponds to variant rs571655 [ dbSNP | Ensembl ].
VAR_022532
Natural varianti627 – 6271T → M in SLSN4. 1 Publication
Corresponds to variant rs199891059 [ dbSNP | Ensembl ].
VAR_022533
Natural varianti654 – 6541A → G in NPHP4. 1 Publication
VAR_022534
Natural varianti735 – 7351R → W in NPHP4. 1 Publication
Corresponds to variant rs191913664 [ dbSNP | Ensembl ].
VAR_022535
Natural varianti740 – 7401R → H Does not affect interaction with RPGRIP1L. 1 Publication
Corresponds to variant rs34248917 [ dbSNP | Ensembl ].
VAR_022536
Natural varianti754 – 7541G → R in NPHP4; affects interaction with RPGRIP1L. 1 Publication
VAR_015214
Natural varianti765 – 7651V → I.1 Publication
Corresponds to variant rs149244006 [ dbSNP | Ensembl ].
VAR_022537
Natural varianti766 – 7661Q → R in NPHP4; with color blindness. 1 Publication
VAR_022538
Natural varianti776 – 7761P → R in NPHP4. 1 Publication
Corresponds to variant rs201527181 [ dbSNP | Ensembl ].
VAR_022539
Natural varianti782 – 7821H → Q in NPHP4. 1 Publication
VAR_022540
Natural varianti848 – 8481R → W Does not affect interaction with RPGRIP1L. 2 Publications
Corresponds to variant rs17472401 [ dbSNP | Ensembl ].
VAR_015215
Natural varianti939 – 9391L → Q.
Corresponds to variant rs1287637 [ dbSNP | Ensembl ].
VAR_037622
Natural varianti940 – 9412Missing.1 Publication
VAR_022541
Natural varianti946 – 9461T → A in SLSN4. 1 Publication
VAR_022542
Natural varianti959 – 9591R → Q.
Corresponds to variant rs12084067 [ dbSNP | Ensembl ].
VAR_037623
Natural varianti961 – 9611R → H in NPHP4. 1 Publication
Corresponds to variant rs183885357 [ dbSNP | Ensembl ].
VAR_022543
Natural varianti991 – 9911F → S in NPHP4. 1 Publication
Corresponds to variant rs28940891 [ dbSNP | Ensembl ].
VAR_015186
Natural varianti1098 – 10981A → T in NPHP4. 1 Publication
Corresponds to variant rs41280798 [ dbSNP | Ensembl ].
VAR_022544
Natural varianti1192 – 11921R → W in NPHP4. 1 Publication
Corresponds to variant rs139022622 [ dbSNP | Ensembl ].
VAR_022545
Natural varianti1225 – 12251T → M in SLSN4. 1 Publication
Corresponds to variant rs144624477 [ dbSNP | Ensembl ].
VAR_022546
Natural varianti1284 – 12841R → C in NPHP4. 1 Publication
VAR_022547
Natural varianti1287 – 12871Q → E in NPHP4; with hearing loss. 1 Publication
VAR_022548

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei538 – 5381Missing in isoform 2. 1 PublicationVSP_054514
Alternative sequencei872 – 91241KHVVQ…SDATR → WALQATVLFGEVGTLPVAFV SGWLLICKGRRNGEKVRRNI D in isoform 2. 1 PublicationVSP_054515Add
BLAST
Alternative sequencei913 – 1426514Missing in isoform 2. 1 PublicationVSP_054516Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY118228 mRNA. Translation: AAM78558.1.
AF537130 mRNA. Translation: AAN06814.1.
AL035406 Genomic DNA. No translation available.
AL356261 Genomic DNA. No translation available.
AL356693 Genomic DNA. No translation available.
CH471130 Genomic DNA. Translation: EAW71509.1.
BC040520 mRNA. Translation: AAH40520.1.
AB014573 mRNA. Translation: BAA31648.1.
CCDSiCCDS44052.1. [O75161-1]
PIRiT00364.
RefSeqiNP_001278522.1. NM_001291593.1.
NP_001278523.1. NM_001291594.1.
NP_055917.1. NM_015102.4. [O75161-1]
XP_006710626.1. XM_006710563.1. [O75161-1]
XP_006710627.1. XM_006710564.1. [O75161-1]
XP_006710628.1. XM_006710565.1. [O75161-1]
UniGeneiHs.462348.

Genome annotation databases

EnsembliENST00000378156; ENSP00000367398; ENSG00000131697. [O75161-1]
ENST00000489180; ENSP00000423747; ENSG00000131697. [O75161-2]
ENST00000622020; ENSP00000481831; ENSG00000131697. [O75161-1]
GeneIDi261734.
KEGGihsa:261734.
UCSCiuc001alq.2. human. [O75161-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY118228 mRNA. Translation: AAM78558.1 .
AF537130 mRNA. Translation: AAN06814.1 .
AL035406 Genomic DNA. No translation available.
AL356261 Genomic DNA. No translation available.
AL356693 Genomic DNA. No translation available.
CH471130 Genomic DNA. Translation: EAW71509.1 .
BC040520 mRNA. Translation: AAH40520.1 .
AB014573 mRNA. Translation: BAA31648.1 .
CCDSi CCDS44052.1. [O75161-1 ]
PIRi T00364.
RefSeqi NP_001278522.1. NM_001291593.1.
NP_001278523.1. NM_001291594.1.
NP_055917.1. NM_015102.4. [O75161-1 ]
XP_006710626.1. XM_006710563.1. [O75161-1 ]
XP_006710627.1. XM_006710564.1. [O75161-1 ]
XP_006710628.1. XM_006710565.1. [O75161-1 ]
UniGenei Hs.462348.

3D structure databases

ProteinModelPortali O75161.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 129286. 6 interactions.
IntActi O75161. 39 interactions.
STRINGi 9606.ENSP00000367398.

PTM databases

PhosphoSitei O75161.

Proteomic databases

MaxQBi O75161.
PaxDbi O75161.
PRIDEi O75161.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000378156 ; ENSP00000367398 ; ENSG00000131697 . [O75161-1 ]
ENST00000489180 ; ENSP00000423747 ; ENSG00000131697 . [O75161-2 ]
ENST00000622020 ; ENSP00000481831 ; ENSG00000131697 . [O75161-1 ]
GeneIDi 261734.
KEGGi hsa:261734.
UCSCi uc001alq.2. human. [O75161-1 ]

Organism-specific databases

CTDi 261734.
GeneCardsi GC01M005922.
HGNCi HGNC:19104. NPHP4.
MIMi 606966. phenotype.
606996. phenotype.
607215. gene.
neXtProti NX_O75161.
Orphaneti 93592. Juvenile autosomal recessive medullary cystic kidney disease.
3156. Senior-Loken syndrome.
PharmGKBi PA134927048.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG81663.
GeneTreei ENSGT00510000048827.
HOGENOMi HOG000049142.
HOVERGENi HBG024036.
InParanoidi O75161.
KOi K16478.
OMAi HMVRWAV.
PhylomeDBi O75161.
TreeFami TF351573.

Enzyme and pathway databases

Reactomei REACT_118607. Signaling by Hippo.

Miscellaneous databases

GeneWikii NPHP4.
GenomeRNAii 261734.
NextBioi 93236.
PROi O75161.
SOURCEi Search...

Gene expression databases

Bgeei O75161.
CleanExi HS_NPHP4.
ExpressionAtlasi O75161. baseline and differential.
Genevestigatori O75161.

Family and domain databases

InterProi IPR029775. NPHP4.
[Graphical view ]
PANTHERi PTHR31043:SF3. PTHR31043:SF3. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin."
    Mollet G., Salomon R., Gribouval O., Silbermann F., Bacq D., Landthaler G., Milford D., Nayir A., Rizzoni G., Antignac C., Saunier S.
    Nat. Genet. 32:300-305(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT NPHP4 SER-991, INVOLVEMENT IN SLSN4, TISSUE SPECIFICITY, INTERACTION WITH NPHP1.
  2. "A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution."
    Otto E., Hoefele J., Ruf R., Mueller A.M., Hiller K.S., Wolf M.T.F., Schuermann M.J., Becker A., Birkenhaeger R., Sudbrack R., Hennies H.C., Nuernberg P., Hildebrandt F.
    Am. J. Hum. Genet. 71:1161-1167(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT NPHP4 ARG-754, VARIANT TRP-848.
    Tissue: Kidney.
  3. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Testis.
  6. "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
    Ishikawa K., Nagase T., Suyama M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 5:169-176(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 212-1426 (ISOFORM 1).
    Tissue: Brain.
  7. Cited for: INTERACTION WITH RPGRIP1L, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANT NPHP4 ARG-754, CHARACTERIZATION OF VARIANTS HIS-740 AND TRP-848.
  8. Cited for: SUBCELLULAR LOCATION, SUBUNIT, INTERACTION WITH NPHP1; RPGRIP1L AND IQCB1.
  9. Cited for: INTERACTION WITH RPGRIP1.
  10. Cited for: INVOLVEMENT IN CILIOPATHIES, VARIANT LEU-160.
  11. "Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling."
    Chaki M., Airik R., Ghosh A.K., Giles R.H., Chen R., Slaats G.G., Wang H., Hurd T.W., Zhou W., Cluckey A., Gee H.Y., Ramaswami G., Hong C.J., Hamilton B.A., Cervenka I., Ganji R.S., Bryja V., Arts H.H.
    , van Reeuwijk J., Oud M.M., Letteboer S.J., Roepman R., Husson H., Ibraghimov-Beskrovnaya O., Yasunaga T., Walz G., Eley L., Sayer J.A., Schermer B., Liebau M.C., Benzing T., Le Corre S., Drummond I., Janssen S., Allen S.J., Natarajan S., O'Toole J.F., Attanasio M., Saunier S., Antignac C., Koenekoop R.K., Ren H., Lopez I., Nayir A., Stoetzel C., Dollfus H., Massoudi R., Gleeson J.G., Andreoli S.P., Doherty D.G., Lindstrad A., Golzio C., Katsanis N., Pape L., Abboud E.B., Al-Rajhi A.A., Lewis R.A., Omran H., Lee E.Y., Wang S., Sekiguchi J.M., Saunders R., Johnson C.A., Garner E., Vanselow K., Andersen J.S., Shlomai J., Nurnberg G., Nurnberg P., Levy S., Smogorzewska A., Otto E.A., Hildebrandt F.
    Cell 150:533-548(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH CEP164.
  12. Cited for: VARIANTS NPHP4 CYS-342; TRP-469; GLY-654; TRP-735; ARG-766; ARG-776; GLN-782; HIS-961; THR-1098; TRP-1192; CYS-1284 AND GLU-1287, VARIANTS SLSN4 TYR-3; LEU-91; MET-627; ALA-946 AND MET-1225, VARIANTS MET-29; GLY-544; LYS-618; HIS-740; ILE-765; TRP-848 AND 940-ALA-GLN-941 DEL.

Entry informationi

Entry nameiNPHP4_HUMAN
AccessioniPrimary (citable) accession number: O75161
Secondary accession number(s): Q8IWC0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 27, 2003
Last sequence update: January 27, 2003
Last modified: October 29, 2014
This is version 111 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3