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O75161

- NPHP4_HUMAN

UniProt

O75161 - NPHP4_HUMAN

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Protein

Nephrocystin-4

Gene
NPHP4, KIAA0673
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 By similarity. Does not seem to be strictly required for ciliogenesis By similarity.

GO - Molecular functioni

  1. protein binding Source: UniProtKB
  2. structural molecule activity Source: UniProtKB

GO - Biological processi

  1. actin cytoskeleton organization Source: UniProtKB
  2. hippo signaling Source: Reactome
  3. retina development in camera-type eye Source: Ensembl
  4. signal transduction Source: UniProtKB
  5. single organismal cell-cell adhesion Source: UniProtKB
  6. 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.2 Publications

GO - Cellular componenti

  1. cell-cell junction Source: UniProtKB
  2. centrosome Source: UniProtKB
  3. cilium Source: UniProtKB-KW
  4. cytosol Source: Reactome
  5. membrane Source: UniProtKB
  6. tight junction Source: UniProtKB-SubCell
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.4 Publications
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. 2 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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

ArrayExpressiO75161.
BgeeiO75161.
CleanExiHS_NPHP4.
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. 5 interactions.
IntActiO75161. 39 interactions.
STRINGi9606.ENSP00000367398.

Structurei

3D structure databases

ProteinModelPortaliO75161.

Family & Domainsi

Sequence similaritiesi

Belongs to the NPHP4 family.

Phylogenomic databases

eggNOGiNOG81663.
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

MNDWHRIFTQ NVLVPPHPQR ARQPWKESTA FQCVLKWLDG PVIRQGVLEV     50
LSEVECHLRV SFFDVTYRHF FGRTWKTTVK PTKRPPSRIV FNEPLYFHTS 100
LNHPHIVAVV EVVAEGKKRD GSLQTLSCGF GILRIFSNQP DSPISASQDK 150
RLRLYHGTPR ALLHPLLQDP AEQNRHMTLI ENCSLQYTLK PHPALEPAFH 200
LLPENLLVSG LQQIPGLLPA HGESGDALRK PRLQKPITGH LDDLFFTLYP 250
SLEKFEEELL ELHVQDHFQE GCGPLDGGAL EILERRLRVG VHNGLGFVQR 300
PQVVVLVPEM DVALTRSASF SRKVVSSSKT SSGSQALVLR SRLRLPEMVG 350
HPAFAVIFQL EYVFSSPAGV DGNAASVTSL SNLACMHMVR WAVWNPLLEA 400
DSGRVTLPLQ GGIQPNPSHC LVYKVPSASM SSEEVKQVES GTLRFQFSLG 450
SEEHLDAPTE PVSGPKVERR PSRKPPTSPS SPPAPVPRVL AAPQNSPVGP 500
GLSISQLAAS PRSPTQHCLA RPTSQLPHGS QASPAQAQEF PLEAGISHLE 550
ADLSQTSLVL ETSIAEQLQE LPFTPLHAPI VVGTQTRSSA GQPSRASMVL 600
LQSSGFPEIL DANKQPAEAV SATEPVTFNP QKEESDCLQS NEMVLQFLAF 650
SRVAQDCRGT SWPKTVYFTF QFYRFPPATT PRLQLVQLDE AGQPSSGALT 700
HILVPVSRDG TFDAGSPGFQ LRYMVGPGFL KPGERRCFAR YLAVQTLQID 750
VWDGDSLLLI GSAAVQMKHL LRQGRPAVQA SHELEVVATE YEQDNMVVSG 800
DMLGFGRVKP IGVHSVVKGR LHLTLANVGH PCEQKVRGCS TLPPSRSRVI 850
SNDGASRFSG GSLLTTGSSR RKHVVQAQKL ADVDSELAAM LLTHARQGKG 900
PQDVSRESDA TRRRKLERMR SVRLQEAGGD LGRRGTSVLA QQSVRTQHLR 950
DLQVIAAYRE RTKAESIASL LSLAITTEHT LHATLGVAEF FEFVLKNPHN 1000
TQHTVTVEID NPELSVIVDS QEWRDFKGAA GLHTPVEEDM FHLRGSLAPQ 1050
LYLRPHETAH VPFKFQSFSA GQLAMVQASP GLSNEKGMDA VSPWKSSAVP 1100
TKHAKVLFRA SGGKPIAVLC LTVELQPHVV DQVFRFYHPE LSFLKKAIRL 1150
PPWHTFPGAP VGMLGEDPPV HVRCSDPNVI CETQNVGPGE PRDIFLKVAS 1200
GPSPEIKDFF VIIYSDRWLA TPTQTWQVYL HSLQRVDVSC VAGQLTRLSL 1250
VLRGTQTVRK VRAFTSHPQE LKTDPKGVFV LPPRGVQDLH VGVRPLRAGS 1300
RFVHLNLVDV DCHQLVASWL VCLCCRQPLI SKAFEIMLAA GEGKGVNKRI 1350
TYTNPYPSRR TFHLHSDHPE LLRFREDSFQ VGGGETYTIG LQFAPSQRVG 1400
EEEILIYIND HEDKNEEAFC VKVIYQ 1426
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. 2 Publications
Corresponds to variant rs34248917 [ dbSNP | Ensembl ].
VAR_022536
Natural varianti754 – 7541G → R in NPHP4; affects interaction with RPGRIP1L. 2 Publications
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. 3 Publications
Corresponds to variant rs17472401 [ dbSNP | Ensembl ].
VAR_015215
Natural varianti939 – 9391L → Q.
Corresponds to variant rs1287637 [ dbSNP | Ensembl ].
VAR_037622
Natural varianti940 – 9412Missing.
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. VSP_054514
Alternative sequencei872 – 91241KHVVQ…SDATR → WALQATVLFGEVGTLPVAFV SGWLLICKGRRNGEKVRRNI D in isoform 2. VSP_054515Add
BLAST
Alternative sequencei913 – 1426514Missing in isoform 2. VSP_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.
ENST00000489180; ENSP00000423747; ENSG00000131697.
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. 5 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 .
ENST00000489180 ; ENSP00000423747 ; ENSG00000131697 .
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.
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

ArrayExpressi O75161.
Bgeei O75161.
CleanExi HS_NPHP4.
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: September 3, 2014
This is version 109 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

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