NPHP3

Functionⁱ

Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension cell movements.1 Publication

GO - Biological processⁱ

atrial septum development
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- Ref.11
  "Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia."
  Bergmann C., Fliegauf M., Bruechle N.O., Frank V., Olbrich H., Kirschner J., Schermer B., Schmedding I., Kispert A., Kraenzlin B., Nuernberg G., Becker C., Grimm T., Girschick G., Lynch S.A., Kelehan P., Senderek J., Neuhaus T.J.
  Omran H.
  Am. J. Hum. Genet. 82:959-970(2008) [PubMed] [Europe PMC] [Abstract]
  Cited for: VARIANT RHPD1 GLN-973, INVOLVEMENT IN MKS7, FUNCTION, INTERACTION WITH INVS.
cilium assembly Source: UniProtKB
convergent extension involved in gastrulation
Source: BHF-UCL
Inferred from genetic interactionⁱ
- Ref.11
  "Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia."
  Bergmann C., Fliegauf M., Bruechle N.O., Frank V., Olbrich H., Kirschner J., Schermer B., Schmedding I., Kispert A., Kraenzlin B., Nuernberg G., Becker C., Grimm T., Girschick G., Lynch S.A., Kelehan P., Senderek J., Neuhaus T.J.
  Omran H.
  Am. J. Hum. Genet. 82:959-970(2008) [PubMed] [Europe PMC] [Abstract]
  Cited for: VARIANT RHPD1 GLN-973, INVOLVEMENT IN MKS7, FUNCTION, INTERACTION WITH INVS.
determination of intestine left/right asymmetry
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- "Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping."
  Fiskerstrand T., Houge G., Sund S., Scheie D., Leh S., Boman H., Knappskog P.M.
  J Mol Diagn 12:125-131(2010) [PubMed] [Europe PMC] [Abstract]
determination of left/right symmetry
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- Ref.11
  "Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia."
  Bergmann C., Fliegauf M., Bruechle N.O., Frank V., Olbrich H., Kirschner J., Schermer B., Schmedding I., Kispert A., Kraenzlin B., Nuernberg G., Becker C., Grimm T., Girschick G., Lynch S.A., Kelehan P., Senderek J., Neuhaus T.J.
  Omran H.
  Am. J. Hum. Genet. 82:959-970(2008) [PubMed] [Europe PMC] [Abstract]
  Cited for: VARIANT RHPD1 GLN-973, INVOLVEMENT IN MKS7, FUNCTION, INTERACTION WITH INVS.
determination of liver left/right asymmetry
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- "Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping."
  Fiskerstrand T., Houge G., Sund S., Scheie D., Leh S., Boman H., Knappskog P.M.
  J Mol Diagn 12:125-131(2010) [PubMed] [Europe PMC] [Abstract]
determination of pancreatic left/right asymmetry
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- "Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping."
  Fiskerstrand T., Houge G., Sund S., Scheie D., Leh S., Boman H., Knappskog P.M.
  J Mol Diagn 12:125-131(2010) [PubMed] [Europe PMC] [Abstract]
determination of stomach left/right asymmetry
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- Ref.11
  "Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia."
  Bergmann C., Fliegauf M., Bruechle N.O., Frank V., Olbrich H., Kirschner J., Schermer B., Schmedding I., Kispert A., Kraenzlin B., Nuernberg G., Becker C., Grimm T., Girschick G., Lynch S.A., Kelehan P., Senderek J., Neuhaus T.J.
  Omran H.
  Am. J. Hum. Genet. 82:959-970(2008) [PubMed] [Europe PMC] [Abstract]
  Cited for: VARIANT RHPD1 GLN-973, INVOLVEMENT IN MKS7, FUNCTION, INTERACTION WITH INVS.
epithelial cilium movement involved in determination of left/right asymmetry Source: BHF-UCL
heart looping
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- Ref.11
  "Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia."
  Bergmann C., Fliegauf M., Bruechle N.O., Frank V., Olbrich H., Kirschner J., Schermer B., Schmedding I., Kispert A., Kraenzlin B., Nuernberg G., Becker C., Grimm T., Girschick G., Lynch S.A., Kelehan P., Senderek J., Neuhaus T.J.
  Omran H.
  Am. J. Hum. Genet. 82:959-970(2008) [PubMed] [Europe PMC] [Abstract]
  Cited for: VARIANT RHPD1 GLN-973, INVOLVEMENT IN MKS7, FUNCTION, INTERACTION WITH INVS.
- "Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping."
  Fiskerstrand T., Houge G., Sund S., Scheie D., Leh S., Boman H., Knappskog P.M.
  J Mol Diagn 12:125-131(2010) [PubMed] [Europe PMC] [Abstract]
kidney development
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- "Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping."
  Fiskerstrand T., Houge G., Sund S., Scheie D., Leh S., Boman H., Knappskog P.M.
  J Mol Diagn 12:125-131(2010) [PubMed] [Europe PMC] [Abstract]
kidney morphogenesis
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- Ref.11
  "Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia."
  Bergmann C., Fliegauf M., Bruechle N.O., Frank V., Olbrich H., Kirschner J., Schermer B., Schmedding I., Kispert A., Kraenzlin B., Nuernberg G., Becker C., Grimm T., Girschick G., Lynch S.A., Kelehan P., Senderek J., Neuhaus T.J.
  Omran H.
  Am. J. Hum. Genet. 82:959-970(2008) [PubMed] [Europe PMC] [Abstract]
  Cited for: VARIANT RHPD1 GLN-973, INVOLVEMENT IN MKS7, FUNCTION, INTERACTION WITH INVS.
lung development
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- "Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping."
  Fiskerstrand T., Houge G., Sund S., Scheie D., Leh S., Boman H., Knappskog P.M.
  J Mol Diagn 12:125-131(2010) [PubMed] [Europe PMC] [Abstract]
maintenance of animal organ identity
Source: HGNC-UCL
Inferred from mutant phenotypeⁱ
- Ref.1
  "Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis."
  Olbrich H., Fliegauf M., Hoefele J., Kispert A., Otto E., Volz A., Wolf M.T., Sasmaz G., Trauer U., Reinhardt R., Sudbrak R., Antignac C., Gretz N., Walz G., Schermer B., Benzing T., Hildebrandt F., Omran H.
  Nat. Genet. 34:455-459(2003) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [MRNA] OF 117-1330, NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5), NUCLEOTIDE SEQUENCE [MRNA] OF 584-1330 (ISOFORM 3), INTERACTION WITH NPHP1, TISSUE SPECIFICITY, VARIANTS NPHP3 THR-360; SER-386; HIS-397; PRO-1141; VAL-1221; ARG-1252 AND THR-1314.
negative regulation of canonical Wnt signaling pathway
Source: UniProtKB
Inferred from direct assayⁱ
- Ref.11
  "Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia."
  Bergmann C., Fliegauf M., Bruechle N.O., Frank V., Olbrich H., Kirschner J., Schermer B., Schmedding I., Kispert A., Kraenzlin B., Nuernberg G., Becker C., Grimm T., Girschick G., Lynch S.A., Kelehan P., Senderek J., Neuhaus T.J.
  Omran H.
  Am. J. Hum. Genet. 82:959-970(2008) [PubMed] [Europe PMC] [Abstract]
  Cited for: VARIANT RHPD1 GLN-973, INVOLVEMENT IN MKS7, FUNCTION, INTERACTION WITH INVS.
photoreceptor cell maintenance
Source: HGNC-UCL
Inferred from mutant phenotypeⁱ
- Ref.1
  "Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis."
  Olbrich H., Fliegauf M., Hoefele J., Kispert A., Otto E., Volz A., Wolf M.T., Sasmaz G., Trauer U., Reinhardt R., Sudbrak R., Antignac C., Gretz N., Walz G., Schermer B., Benzing T., Hildebrandt F., Omran H.
  Nat. Genet. 34:455-459(2003) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [MRNA] OF 117-1330, NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5), NUCLEOTIDE SEQUENCE [MRNA] OF 584-1330 (ISOFORM 3), INTERACTION WITH NPHP1, TISSUE SPECIFICITY, VARIANTS NPHP3 THR-360; SER-386; HIS-397; PRO-1141; VAL-1221; ARG-1252 AND THR-1314.
regulation of planar cell polarity pathway involved in neural tube closure
Source: BHF-UCL
Inferred by curatorⁱ
- Ref.11
  "Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia."
  Bergmann C., Fliegauf M., Bruechle N.O., Frank V., Olbrich H., Kirschner J., Schermer B., Schmedding I., Kispert A., Kraenzlin B., Nuernberg G., Becker C., Grimm T., Girschick G., Lynch S.A., Kelehan P., Senderek J., Neuhaus T.J.
  Omran H.
  Am. J. Hum. Genet. 82:959-970(2008) [PubMed] [Europe PMC] [Abstract]
  Cited for: VARIANT RHPD1 GLN-973, INVOLVEMENT IN MKS7, FUNCTION, INTERACTION WITH INVS.
regulation of Wnt signaling pathway, planar cell polarity pathway Source: UniProtKB
ureter development
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- Ref.11
  "Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia."
  Bergmann C., Fliegauf M., Bruechle N.O., Frank V., Olbrich H., Kirschner J., Schermer B., Schmedding I., Kispert A., Kraenzlin B., Nuernberg G., Becker C., Grimm T., Girschick G., Lynch S.A., Kelehan P., Senderek J., Neuhaus T.J.
  Omran H.
  Am. J. Hum. Genet. 82:959-970(2008) [PubMed] [Europe PMC] [Abstract]
  Cited for: VARIANT RHPD1 GLN-973, INVOLVEMENT IN MKS7, FUNCTION, INTERACTION WITH INVS.
Wnt signaling pathway Source: UniProtKB-KW

Complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	Wnt signaling pathway

Biological process

Wnt signaling pathway

Enzyme and pathway databases

PathwayCommonsⁱ	Q7Z494
Reactomeⁱ	R-HSA-5624138, Trafficking of myristoylated proteins to the cilium

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Nephrocystin-3
Gene namesⁱ	Name:NPHP3 Synonyms:KIAA2000
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 3

Organism-specific databases

Human Gene Nomenclature Database More...HGNCⁱ	HGNC:7907, NPHP3
MIMⁱ	608002, gene
neXtProtⁱ	NX_Q7Z494
VEuPathDBⁱ	HostDB:ENSG00000113971.18

Keywords - Cellular componentⁱ

Cell projection, Cilium

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Nephronophthisis 3 (NPHP3)1 Publication

The disease is caused by variants affecting the gene represented in this entry.

Disease descriptionAn autosomal recessive disorder resulting in end-stage renal disease. It is characterized by polyuria, polydipsia, anemia. Onset of terminal renal failure occurr significantly later (median age, 19 years) than in juvenile nephronophthisis. Renal pathology is characterized by alterations of tubular basement membranes, tubular atrophy and dilation, sclerosing tubulointerstitial nephropathy, and renal cyst development predominantly at the corticomedullary junction.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_022815	360	S → T in NPHP3. 1 PublicationCorresponds to variant dbSNP:rs119456960EnsemblClinVar.	1
Natural variantⁱVAR_022816	386	N → S in NPHP3. 1 PublicationCorresponds to variant dbSNP:rs142021049EnsemblClinVar.	1
Natural variantⁱVAR_022817	397	R → H in NPHP3. 1 PublicationCorresponds to variant dbSNP:rs755094682Ensembl.	1
Natural variantⁱVAR_022818	1141	L → P in NPHP3. 1 PublicationCorresponds to variant dbSNP:rs1057521090EnsemblClinVar.	1
Natural variantⁱVAR_022819	1221	A → V in NPHP3. 1 PublicationCorresponds to variant dbSNP:rs202048210EnsemblClinVar.	1
Natural variantⁱVAR_022820	1252	S → R in NPHP3. 1 PublicationCorresponds to variant dbSNP:rs143451766EnsemblClinVar.	1
Natural variantⁱVAR_022821	1314	S → T in NPHP3; likely benign variant. 1 PublicationCorresponds to variant dbSNP:rs75316802EnsemblClinVar.	1

Renal-hepatic-pancreatic dysplasia 1 (RHPD1)1 Publication

The disease is caused by variants affecting the gene represented in this entry.

Disease descriptionA disease characterized by cystic malformations of the kidneys, liver, and pancreas. The pathological findings consist of multicystic dysplastic kidneys, dilated and dysgenetic bile ducts, a dysplastic pancreas with dilated ducts, cysts, fibrosis and inflammatory infiltrates.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_044121	973	R → Q in RHPD1. 1 PublicationCorresponds to variant dbSNP:rs119456963EnsemblClinVar.		1

Meckel syndrome 7 (MKS7)1 Publication

The disease is caused by variants affecting the gene represented in this entry.

Disease descriptionA disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.

Related information in OMIM

Keywords - Diseaseⁱ

Ciliopathy, Disease variant, Meckel syndrome, Nephronophthisis

Organism-specific databases

DisGeNET More...DisGeNETⁱ	27031
GeneReviewsⁱ	NPHP3
MalaCards human disease database More...MalaCardsⁱ	NPHP3
MIMⁱ	208540, phenotype 267010, phenotype 604387, phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000113971 ENSG00000274810
Orphanetⁱ	93591, Infantile nephronophthisis 93589, Late-onset nephronophthisis 3032, NPHP3-related Meckel-like syndrome 294415, Renal-hepatic-pancreatic dysplasia 3156, Senior-Loken syndrome
PharmGKBⁱ	PA31708

Miscellaneous databases

Pharosⁱ	Q7Z494, Tbio

Pharosⁱ

Q7Z494, Tbio

Genetic variation databases

BioMutaⁱ	NPHP3
DMDMⁱ	68565783

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Initiator methionineⁱ		Removed
ChainⁱPRO_0000106301	2 – 1330	Nephrocystin-3Add BLAST		1329

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Lipidationⁱ	2	N-myristoyl glycine1 Publication		1

Keywords - PTMⁱ

Lipoprotein, Myristate

Proteomic databases

EPDⁱ	Q7Z494
jPOSTⁱ	Q7Z494
MassIVEⁱ	Q7Z494
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q7Z494
PaxDbⁱ	Q7Z494
PeptideAtlas More...PeptideAtlasⁱ	Q7Z494
PRIDEⁱ	Q7Z494
ProteomicsDBⁱ	69163 [Q7Z494-1] 69164 [Q7Z494-2] 69165 [Q7Z494-3] 69166 [Q7Z494-4] 69167 [Q7Z494-5] 69168 [Q7Z494-6] 69169 [Q7Z494-7]

PTM databases

CarbonylDBⁱ	Q7Z494
iPTMnetⁱ	Q7Z494
PhosphoSitePlusⁱ	Q7Z494

Expressionⁱ

Tissue specificityⁱ

Widely expressed at low level. Expressed in heart, placenta, liver, skeletal muscle, kidney and pancreas. Expressed at very low level in brain and lung.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000113971, Expressed in female gonad and 218 other tissues
ExpressionAtlasⁱ	Q7Z494, baseline and differential
Genevisibleⁱ	Q7Z494, HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	ENSG00000113971, Low tissue specificity

HPAⁱ

ENSG00000113971, Low tissue specificity

Interactionⁱ

Subunit structureⁱ

Interacts with NPHP1 and INVS/NPHP2.

Interacts (when myristoylated) with UNC119 and UNC119B; interaction is required for localization to cilium.

Interacts with CEP164.

Component of a complex containing at least ANKS6, INVS, NEK8 and NPHP3. ANKS6 may organize complex assembly by linking INVS and NPHP3 to NEK8 and INVS may target the complex to the proximal ciliary axoneme.

6 Publications

Binary interactionsⁱ

Hide details

Q7Z494

With	#Exp.	IntAct
CEP164 [Q9UPV0]	2	EBI-2804263,EBI-3937015
UNC119 [Q13432]	3	EBI-2804263,EBI-711260

Protein-protein interaction databases

BioGRIDⁱ	117962, 35 interactors
CORUMⁱ	Q7Z494
IntActⁱ	Q7Z494, 21 interactors
Molecular INTeraction database More...MINTⁱ	Q7Z494
STRINGⁱ	9606.ENSP00000338766

Miscellaneous databases

RNActⁱ	Q7Z494, protein

RNActⁱ

Q7Z494, protein

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Helixⁱ	3 – 6	Combined sources		4

Show more details

3D structure databases

SMRⁱ	Q7Z494
ModBaseⁱ	Search...
PDBe-KBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Length
Repeatⁱ	471 – 504	TPR 1Add BLAST	34
Repeatⁱ	885 – 918	TPR 2Add BLAST	34
Repeatⁱ	920 – 942	TPR 3Add BLAST	23
Repeatⁱ	943 – 976	TPR 4Add BLAST	34
Repeatⁱ	985 – 1018	TPR 5Add BLAST	34
Repeatⁱ	1027 – 1060	TPR 6Add BLAST	34
Repeatⁱ	1093 – 1126	TPR 7Add BLAST	34
Repeatⁱ	1135 – 1168	TPR 8Add BLAST	34
Repeatⁱ	1177 – 1210	TPR 9Add BLAST	34
Repeatⁱ	1219 – 1252	TPR 10Add BLAST	34
Repeatⁱ	1261 – 1294	TPR 11Add BLAST	34

Coiled coil

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Coiled coilⁱ	83 – 207	Sequence analysisAdd BLAST		125

Keywords - Domainⁱ

Coiled coil, Repeat, TPR repeat

Phylogenomic databases

eggNOGⁱ	KOG1840, Eukaryota
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00940000156398
HOGENOMⁱ	CLU_1744706_0_0_1
InParanoidⁱ	Q7Z494
OMAⁱ	ERHIMRE
Database of Orthologous Groups More...OrthoDBⁱ	377554at2759
PhylomeDBⁱ	Q7Z494
TreeFamⁱ	TF314010

Family and domain databases

Gene3Dⁱ	1.25.40.10, 3 hits
InterProⁱ	View protein in InterPro IPR027417, P-loop_NTPase IPR013026, TPR-contain_dom IPR011990, TPR-like_helical_dom_sf IPR019734, TPR_repeat
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF13176, TPR_7, 1 hit
SMARTⁱ	View protein in SMART SM00028, TPR, 8 hits
SUPFAMⁱ	SSF48452, SSF48452, 2 hits SSF52540, SSF52540, 1 hit
PROSITEⁱ	View protein in PROSITE PS50005, TPR, 8 hits PS50293, TPR_REGION, 1 hit

Sequences (7+)ⁱ

Sequence statusⁱ: Complete.

Sequence processingⁱ: The displayed sequence is further processed into a mature form.

This entry describes 7 isoformsⁱ produced by alternative splicing. Align Add to basket

Note: Additional isoforms seem to exist.

This entry has 7 described isoforms and 3 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: Q7Z494-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the canonicalⁱ 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
MGTASSLVSP AGGEVIEDTY GAGGGEACEI PVEVKPKARL LRNSFRRGAG 
        60         70         80         90        100
AAAGAGPGSL PRGVGAGGLL GASFKSTGSS VPELEYAAAE YERLRKEYEI 
       110        120        130        140        150
FRVSKNQELL SMGRREAKLD TENKRLRAEL QALQKTYQKI LREKESALEA 
       160        170        180        190        200
KYQAMERAAT FEHDRDKVKR QFKIFRETKE NEIQDLLRAK RELESKLQRL 
       210        220        230        240        250
QAQGIQVFDP GESDSDDNCT DVTAAGTQCE YWTGGALGSE PSIGSMIQLQ 
       260        270        280        290        300
QSFRGPEFAH SSIDVEGPFA NVNRDDWDIA VASLLQVTPL FSHSLWSNTV 
       310        320        330        340        350
RCYLIYTDET QPEMDLFLKD YSPKLKRMCE TMGYFFHAVY FPIDVENQYL 
       360        370        380        390        400
TVRKWEIEKS SLVILFIHLT LPSLLLEDCE EAFLKNPEGK PRLIFHRLED 
       410        420        430        440        450
GKVSSDSVQQ LIDQVSNLNK TSKAKIIDHS GDPAEGVYKT YICVEKIIKQ 
       460        470        480        490        500
DILGFENTDL ETKDLGSEDS IPEEDDFGDV LWDIHDEQEQ METFQQASNS 
       510        520        530        540        550
AHELGFEKYY QRLNDLVAAP APIPPLLVSG GPGSGKSLLL SKWIQLQQKN 
       560        570        580        590        600
SPNTLILSHF VGRPMSTSSE SSLIIKRLTL KLMQHSWSVS ALTLDPAKLL 
       610        620        630        640        650
EEFPRWLEKL SARHQGSIII VIDSIDQVQQ VEKHMKWLID PLPVNVRVIV 
       660        670        680        690        700
SVNVETCPPA WRLWPTLHLD PLSPKDAKSI IIAECHSVDI KLSKEQEKKL 
       710        720        730        740        750
ERHCRSATTC NALYVTLFGK MIARAGRAGN LDKILHQCFQ CQDTLSLYRL 
       760        770        780        790        800
VLHSIRESMA NDVDKELMKQ ILCLVNVSHN GVSESELMEL YPEMSWTFLT 
       810        820        830        840        850
SLIHSLYKMC LLTYGCGLLR FQHLQAWETV RLEYLEGPTV TSSYRQKLIN 
       860        870        880        890        900
YFTLQLSQDR VTWRSADELP WLFQQQGSKQ KLHDCLLNLF VSQNLYKRGH 
       910        920        930        940        950
FAELLSYWQF VGKDKSAMAT EYFDSLKQYE KNCEGEDNMS CLADLYETLG 
       960        970        980        990       1000
RFLKDLGLLS QAIVPLQRSL EIRETALDPD HPRVAQSLHQ LASVYVQWKK 
      1010       1020       1030       1040       1050
FGNAEQLYKQ ALEISENAYG ADHPYTAREL EALATLYQKQ NKYEQAEHFR 
      1060       1070       1080       1090       1100
KKSFKIHQKA IKKKGNLYGF ALLRRRALQL EELTLGKDTP DNARTLNELG 
      1110       1120       1130       1140       1150
VLYYLQNNLE TADQFLKRSL EMRERVLGPD HPDCAQSLNN LAALCNEKKQ 
      1160       1170       1180       1190       1200
YDKAEELYER ALDIRRRALA PDHPSLAYTV KHLAILYKKM GKLDKAVPLY 
      1210       1220       1230       1240       1250
ELAVEIRQKS FGPKHPSVAT ALVNLAVLYS QMKKHVEALP LYERALKIYE 
      1260       1270       1280       1290       1300
DSLGRMHPRV GETLKNLAVL SYEGGDFEKA AELYKRAMEI KEAETSLLGG 
      1310       1320       1330
KAPSRHSSSG DTFSLKTAHS PNVFLQQGQR

Length:1,330

Mass (Da):150,864

Last modified:October 1, 2003 - v1

Checksum:ⁱ99C1F17C9A5117F8

GO

Isoform 2 (identifier: Q7Z494-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-720: Missing.
1330-1330: R → RKVQSNLLSPEGLSNICAQEKTTRFTSS

« Hide

        10         20         30         40         50
MIARAGRAGN LDKILHQCFQ CQDTLSLYRL VLHSIRESMA NDVDKELMKQ 
        60         70         80         90        100
ILCLVNVSHN GVSESELMEL YPEMSWTFLT SLIHSLYKMC LLTYGCGLLR 
       110        120        130        140        150
FQHLQAWETV RLEYLEGPTV TSSYRQKLIN YFTLQLSQDR VTWRSADELP 
       160        170        180        190        200
WLFQQQGSKQ KLHDCLLNLF VSQNLYKRGH FAELLSYWQF VGKDKSAMAT 
       210        220        230        240        250
EYFDSLKQYE KNCEGEDNMS CLADLYETLG RFLKDLGLLS QAIVPLQRSL 
       260        270        280        290        300
EIRETALDPD HPRVAQSLHQ LASVYVQWKK FGNAEQLYKQ ALEISENAYG 
       310        320        330        340        350
ADHPYTAREL EALATLYQKQ NKYEQAEHFR KKSFKIHQKA IKKKGNLYGF 
       360        370        380        390        400
ALLRRRALQL EELTLGKDTP DNARTLNELG VLYYLQNNLE TADQFLKRSL 
       410        420        430        440        450
EMRERVLGPD HPDCAQSLNN LAALCNEKKQ YDKAEELYER ALDIRRRALA 
       460        470        480        490        500
PDHPSLAYTV KHLAILYKKM GKLDKAVPLY ELAVEIRQKS FGPKHPSVAT 
       510        520        530        540        550
ALVNLAVLYS QMKKHVEALP LYERALKIYE DSLGRMHPRV GETLKNLAVL 
       560        570        580        590        600
SYEGGDFEKA AELYKRAMEI KEAETSLLGG KAPSRHSSSG DTFSLKTAHS 
       610        620        630 
PNVFLQQGQR KVQSNLLSPE GLSNICAQEK TTRFTSS

Show »

Length:637

Mass (Da):73,014

Checksum:ⁱB12632DACE1A9058

GO

Isoform 3 (identifier: Q7Z494-3) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
630-636: QVEKHMK → VVAYTSS
637-1330: Missing.

« Hide

        10         20         30         40         50
MGTASSLVSP AGGEVIEDTY GAGGGEACEI PVEVKPKARL LRNSFRRGAG 
        60         70         80         90        100
AAAGAGPGSL PRGVGAGGLL GASFKSTGSS VPELEYAAAE YERLRKEYEI 
       110        120        130        140        150
FRVSKNQELL SMGRREAKLD TENKRLRAEL QALQKTYQKI LREKESALEA 
       160        170        180        190        200
KYQAMERAAT FEHDRDKVKR QFKIFRETKE NEIQDLLRAK RELESKLQRL 
       210        220        230        240        250
QAQGIQVFDP GESDSDDNCT DVTAAGTQCE YWTGGALGSE PSIGSMIQLQ 
       260        270        280        290        300
QSFRGPEFAH SSIDVEGPFA NVNRDDWDIA VASLLQVTPL FSHSLWSNTV 
       310        320        330        340        350
RCYLIYTDET QPEMDLFLKD YSPKLKRMCE TMGYFFHAVY FPIDVENQYL 
       360        370        380        390        400
TVRKWEIEKS SLVILFIHLT LPSLLLEDCE EAFLKNPEGK PRLIFHRLED 
       410        420        430        440        450
GKVSSDSVQQ LIDQVSNLNK TSKAKIIDHS GDPAEGVYKT YICVEKIIKQ 
       460        470        480        490        500
DILGFENTDL ETKDLGSEDS IPEEDDFGDV LWDIHDEQEQ METFQQASNS 
       510        520        530        540        550
AHELGFEKYY QRLNDLVAAP APIPPLLVSG GPGSGKSLLL SKWIQLQQKN 
       560        570        580        590        600
SPNTLILSHF VGRPMSTSSE SSLIIKRLTL KLMQHSWSVS ALTLDPAKLL 
       610        620        630 
EEFPRWLEKL SARHQGSIII VIDSIDQVQV VAYTSS

Show »

Length:636

Mass (Da):71,101

Checksum:ⁱ8960364D3DFD50EA

GO

Isoform 4 (identifier: Q7Z494-4) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
132-181: ALQKTYQKIL...FKIFRETKEN → VTPGWAATPG...HILFESEMIP
182-1330: Missing.

« Hide

        10         20         30         40         50
MGTASSLVSP AGGEVIEDTY GAGGGEACEI PVEVKPKARL LRNSFRRGAG 
        60         70         80         90        100
AAAGAGPGSL PRGVGAGGLL GASFKSTGSS VPELEYAAAE YERLRKEYEI 
       110        120        130        140        150
FRVSKNQELL SMGRREAKLD TENKRLRAEL QVTPGWAATP GDPWEARPSC 
       160        170        180 
SLSKPSGFES SAETAHFNLR GHILFESEMI P

Show »

Length:181

Mass (Da):19,138

Checksum:ⁱF5B40DF9324E1D1E

GO

Isoform 5 (identifier: Q7Z494-5) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
224-239: AAGTQCEYWTGGALGS → VSLESDQHPGIFIANF
240-1330: Missing.

« Hide

        10         20         30         40         50
MGTASSLVSP AGGEVIEDTY GAGGGEACEI PVEVKPKARL LRNSFRRGAG 
        60         70         80         90        100
AAAGAGPGSL PRGVGAGGLL GASFKSTGSS VPELEYAAAE YERLRKEYEI 
       110        120        130        140        150
FRVSKNQELL SMGRREAKLD TENKRLRAEL QALQKTYQKI LREKESALEA 
       160        170        180        190        200
KYQAMERAAT FEHDRDKVKR QFKIFRETKE NEIQDLLRAK RELESKLQRL 
       210        220        230 
QAQGIQVFDP GESDSDDNCT DVTVSLESDQ HPGIFIANF

Show »

Length:239

Mass (Da):26,342

Checksum:ⁱ05AFCF865C45DC45

GO

Isoform 6 (identifier: Q7Z494-6) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
697-704: EKKLERHC → CWESRQFR
705-1330: Missing.

« Hide

        10         20         30         40         50
MGTASSLVSP AGGEVIEDTY GAGGGEACEI PVEVKPKARL LRNSFRRGAG 
        60         70         80         90        100
AAAGAGPGSL PRGVGAGGLL GASFKSTGSS VPELEYAAAE YERLRKEYEI 
       110        120        130        140        150
FRVSKNQELL SMGRREAKLD TENKRLRAEL QALQKTYQKI LREKESALEA 
       160        170        180        190        200
KYQAMERAAT FEHDRDKVKR QFKIFRETKE NEIQDLLRAK RELESKLQRL 
       210        220        230        240        250
QAQGIQVFDP GESDSDDNCT DVTAAGTQCE YWTGGALGSE PSIGSMIQLQ 
       260        270        280        290        300
QSFRGPEFAH SSIDVEGPFA NVNRDDWDIA VASLLQVTPL FSHSLWSNTV 
       310        320        330        340        350
RCYLIYTDET QPEMDLFLKD YSPKLKRMCE TMGYFFHAVY FPIDVENQYL 
       360        370        380        390        400
TVRKWEIEKS SLVILFIHLT LPSLLLEDCE EAFLKNPEGK PRLIFHRLED 
       410        420        430        440        450
GKVSSDSVQQ LIDQVSNLNK TSKAKIIDHS GDPAEGVYKT YICVEKIIKQ 
       460        470        480        490        500
DILGFENTDL ETKDLGSEDS IPEEDDFGDV LWDIHDEQEQ METFQQASNS 
       510        520        530        540        550
AHELGFEKYY QRLNDLVAAP APIPPLLVSG GPGSGKSLLL SKWIQLQQKN 
       560        570        580        590        600
SPNTLILSHF VGRPMSTSSE SSLIIKRLTL KLMQHSWSVS ALTLDPAKLL 
       610        620        630        640        650
EEFPRWLEKL SARHQGSIII VIDSIDQVQQ VEKHMKWLID PLPVNVRVIV 
       660        670        680        690        700
SVNVETCPPA WRLWPTLHLD PLSPKDAKSI IIAECHSVDI KLSKEQCWES 

RQFR

Show »

Length:704

Mass (Da):79,132

Checksum:ⁱ6C99314707B4ED2C

GO

Isoform 7 (identifier: Q7Z494-7) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
132-150: ALQKTYQKILREKESALEA → GLAAVARSRLTATWNSWAQ
151-1330: Missing.

« Hide

        10         20         30         40         50
MGTASSLVSP AGGEVIEDTY GAGGGEACEI PVEVKPKARL LRNSFRRGAG 
        60         70         80         90        100
AAAGAGPGSL PRGVGAGGLL GASFKSTGSS VPELEYAAAE YERLRKEYEI 
       110        120        130        140        150
FRVSKNQELL SMGRREAKLD TENKRLRAEL QGLAAVARSR LTATWNSWAQ

Show »

Length:150

Mass (Da):15,798

Checksum:ⁱ10593BB409D181B0

GO

Computationally mapped potential isoform sequencesⁱ

There are 3 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

H0YAM4	H0YAM4_HUMAN	Nephrocystin-3 Nephrocystin-3	NPHP3	87	Annotation score:
F2Z3A8	F2Z3A8_HUMAN	Nephrocystin-3 Nephrocystin-3	NPHP3	538	Annotation score:
A0A0C4DG93	A0A0C4DG93_HUMAN	Nephrocystin-3 Nephrocystin-3	NPHP3	123	Annotation score:

Sequence cautionⁱ

The sequence BAB70891 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

The sequence BAC02709 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

The sequence BAC04268 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	223	T → TT in CAI46202 (PubMed:17974005).Curated		1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_022815	360	S → T in NPHP3. 1 PublicationCorresponds to variant dbSNP:rs119456960EnsemblClinVar.	1
Natural variantⁱVAR_022816	386	N → S in NPHP3. 1 PublicationCorresponds to variant dbSNP:rs142021049EnsemblClinVar.	1
Natural variantⁱVAR_022817	397	R → H in NPHP3. 1 PublicationCorresponds to variant dbSNP:rs755094682Ensembl.	1
Natural variantⁱVAR_044121	973	R → Q in RHPD1. 1 PublicationCorresponds to variant dbSNP:rs119456963EnsemblClinVar.	1
Natural variantⁱVAR_022818	1141	L → P in NPHP3. 1 PublicationCorresponds to variant dbSNP:rs1057521090EnsemblClinVar.	1
Natural variantⁱVAR_022819	1221	A → V in NPHP3. 1 PublicationCorresponds to variant dbSNP:rs202048210EnsemblClinVar.	1
Natural variantⁱVAR_022820	1252	S → R in NPHP3. 1 PublicationCorresponds to variant dbSNP:rs143451766EnsemblClinVar.	1
Natural variantⁱVAR_044122	1305	R → C. Corresponds to variant dbSNP:rs35485382EnsemblClinVar.	1
Natural variantⁱVAR_022821	1314	S → T in NPHP3; likely benign variant. 1 PublicationCorresponds to variant dbSNP:rs75316802EnsemblClinVar.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Length
Alternative sequenceⁱVSP_014480	1 – 720	Missing in isoform 2. 1 PublicationAdd BLAST	720
Alternative sequenceⁱVSP_014482	132 – 181	ALQKT…ETKEN → VTPGWAATPGDPWEARPSCS LSKPSGFESSAETAHFNLRG HILFESEMIP in isoform 4. 1 PublicationAdd BLAST	50
Alternative sequenceⁱVSP_014484	132 – 150	ALQKT…SALEA → GLAAVARSRLTATWNSWAQ in isoform 7. 1 PublicationAdd BLAST	19
Alternative sequenceⁱVSP_014485	151 – 1330	Missing in isoform 7. 1 PublicationAdd BLAST	1180
Alternative sequenceⁱVSP_014483	182 – 1330	Missing in isoform 4. 1 PublicationAdd BLAST	1149
Alternative sequenceⁱVSP_014486	224 – 239	AAGTQ…GALGS → VSLESDQHPGIFIANF in isoform 5. 1 PublicationAdd BLAST	16
Alternative sequenceⁱVSP_014487	240 – 1330	Missing in isoform 5. 1 PublicationAdd BLAST	1091
Alternative sequenceⁱVSP_014488	630 – 636	QVEKHMK → VVAYTSS in isoform 3. 2 Publications	7
Alternative sequenceⁱVSP_014489	637 – 1330	Missing in isoform 3. 2 PublicationsAdd BLAST	694
Alternative sequenceⁱVSP_014490	697 – 704	EKKLERHC → CWESRQFR in isoform 6. 1 Publication	8
Alternative sequenceⁱVSP_014491	705 – 1330	Missing in isoform 6. 1 PublicationAdd BLAST	626
Alternative sequenceⁱVSP_014481	1330	R → RKVQSNLLSPEGLSNICAQE KTTRFTSS in isoform 2. 1 Publication	1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AY257864 mRNA Translation: AAP83423.1 AY257865 mRNA Translation: AAP83424.1 AY257866 mRNA Translation: AAP83425.1 AB082531 mRNA Translation: BAC02709.1 Different initiation. AK055253 mRNA Translation: BAB70891.1 Different initiation. AK055893 mRNA Translation: BAB71038.1 AK094015 mRNA Translation: BAC04268.1 Different initiation. AL832863 mRNA Translation: CAI46200.2 AL832877 Transcribed RNA Translation: CAI46202.1 CR749498 mRNA Translation: CAH18321.1 BC068082 mRNA Translation: AAH68082.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS3078.1 [Q7Z494-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_694972.3, NM_153240.4 [Q7Z494-1]

Genome annotation databases

Ensemblⁱ	ENST00000337331; ENSP00000338766; ENSG00000113971 [Q7Z494-1] ENST00000383282; ENSP00000372769; ENSG00000113971 [Q7Z494-7]
GeneIDⁱ	27031
KEGGⁱ	hsa:27031
UCSC genome browser More...UCSCⁱ	uc003epe.3, human [Q7Z494-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q7Z494-5	Nephrocystin-3 (Fragment)		HUMAN		123	UniRef100_Q7Z494-5
NPHP3 isoform 8 (Fragment)		PANTR		123

Protein	Similar proteins		Species	Score	Length	Source
Q7Z494	Nephrocystin 3		HORSE		1505	UniRef90_Q7Z494
TPR_REGION domain-containing protein		PIG		1368
Uncharacterized protein		DICBM		1367
TPR_REGION domain-containing protein		AILME		1356
TPR_REGION domain-containing protein		LOXAF		1356
+303
Q7Z494-2	Kinesin light chain (Fragment)		MACMU		631	UniRef90_Q7Z494-2
Q7Z494-3	Isoform 6 of Nephrocystin-3		HUMAN		704	UniRef90_Q7Z494-6
Nephrocystin 3		ROUAE		642
Nephrocystin 3		MOLMO		637
NPHP3 isoform 4		PANTR		636
Q7Z494-5	Nephrocystin-3 (Fragment)		HUMAN		123	UniRef90_Q7Z494-5
NPHP3 isoform 8 (Fragment)		PANTR		123
+1
Q7Z494-7	Uncharacterized protein		NOMLE		151	UniRef90_Q7Z494-7
Uncharacterized protein		RHIRO		150
Uncharacterized protein		MACFA		150
Uncharacterized protein		MACNE		150
Uncharacterized protein		PAPAN		150
+8

Protein	Similar proteins		Species	Score	Length	Source
Q7Z494	Nephrocystin-3		MOUSE		1325	UniRef50_Q7Z494
Nephrocystin-3		XENTR		1311
Nephrocystin-3		XENLA		1300
Nephrocystin-3		DANRE		1303
Nephrocystin 3		HORSE		1505
+722
Q7Z494-2	Kinesin light chain (Fragment)		MACMU		631	UniRef50_Q7Z494-2
Nephrocystin-3 isoform X1		LABRO		658
NPHP3 protein (Fragment)		Hypocryptadius cinnamomeus		573
Kinesin light chain (Fragment)		NEOVI		473
Uncharacterized protein		PETMA		701
Q7Z494-3	Isoform 6 of Nephrocystin-3		HUMAN		704	UniRef50_Q7Z494-6
Nephrocystin 3		ROUAE		642
Nephrocystin 3		MOLMO		637
NPHP3 isoform 4		PANTR		636
Nephrocystin-3 (Fragment)		NEOVI		744
+28
Q7Z494-4	Uncharacterized protein		MACFA		150	UniRef50_Q7Z494-4
Uncharacterized protein		NOMLE		151
Uncharacterized protein		RHIRO		150
Isoform 7 of Nephrocystin-3		HUMAN		150
Nephrocystin 3		PANTR		150
+9
Q7Z494-5	Nephrocystin-3 (Fragment)		HUMAN		123	UniRef50_Q7Z494-5
NPHP3 isoform 8 (Fragment)		PANTR		123
Uncharacterized protein		Gallirallus okinawae		284
nephrocystin-3-like		mainland tiger snake		261
NPHP3 (Fragment)		CEREH		280
+3

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AY257864 mRNA Translation: AAP83423.1 AY257865 mRNA Translation: AAP83424.1 AY257866 mRNA Translation: AAP83425.1 AB082531 mRNA Translation: BAC02709.1 Different initiation. AK055253 mRNA Translation: BAB70891.1 Different initiation. AK055893 mRNA Translation: BAB71038.1 AK094015 mRNA Translation: BAC04268.1 Different initiation. AL832863 mRNA Translation: CAI46200.2 AL832877 Transcribed RNA Translation: CAI46202.1 CR749498 mRNA Translation: CAH18321.1 BC068082 mRNA Translation: AAH68082.1
CCDSⁱ	CCDS3078.1 [Q7Z494-1]
RefSeqⁱ	NP_694972.3, NM_153240.4 [Q7Z494-1]

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	5L7K	X-ray	2.10	B	2-7	[»]
SMRⁱ	Q7Z494
ModBaseⁱ	Search...
PDBe-KBⁱ	Search...

Protein-protein interaction databases

BioGRIDⁱ	117962, 35 interactors
CORUMⁱ	Q7Z494
IntActⁱ	Q7Z494, 21 interactors
MINTⁱ	Q7Z494
STRINGⁱ	9606.ENSP00000338766

PTM databases

CarbonylDBⁱ	Q7Z494
iPTMnetⁱ	Q7Z494
PhosphoSitePlusⁱ	Q7Z494

Genetic variation databases

BioMutaⁱ	NPHP3
DMDMⁱ	68565783

Proteomic databases

EPDⁱ	Q7Z494
jPOSTⁱ	Q7Z494
MassIVEⁱ	Q7Z494
MaxQBⁱ	Q7Z494
PaxDbⁱ	Q7Z494
PeptideAtlasⁱ	Q7Z494
PRIDEⁱ	Q7Z494
ProteomicsDBⁱ	69163 [Q7Z494-1] 69164 [Q7Z494-2] 69165 [Q7Z494-3] 69166 [Q7Z494-4] 69167 [Q7Z494-5] 69168 [Q7Z494-6] 69169 [Q7Z494-7]

Protocols and materials databases

Antibodypediaⁱ	2070, 106 antibodies

Antibodypediaⁱ

2070, 106 antibodies

Genome annotation databases

Ensemblⁱ	ENST00000337331; ENSP00000338766; ENSG00000113971 [Q7Z494-1] ENST00000383282; ENSP00000372769; ENSG00000113971 [Q7Z494-7]
GeneIDⁱ	27031
KEGGⁱ	hsa:27031
UCSCⁱ	uc003epe.3, human [Q7Z494-1]

Organism-specific databases

CTDⁱ	27031
DisGeNETⁱ	27031
GeneCardsⁱ	NPHP3
GeneReviewsⁱ	NPHP3
HGNCⁱ	HGNC:7907, NPHP3
HPAⁱ	ENSG00000113971, Low tissue specificity
MalaCardsⁱ	NPHP3
MIMⁱ	208540, phenotype 267010, phenotype 604387, phenotype 608002, gene
neXtProtⁱ	NX_Q7Z494
OpenTargetsⁱ	ENSG00000113971 ENSG00000274810
Orphanetⁱ	93591, Infantile nephronophthisis 93589, Late-onset nephronophthisis 3032, NPHP3-related Meckel-like syndrome 294415, Renal-hepatic-pancreatic dysplasia 3156, Senior-Loken syndrome
PharmGKBⁱ	PA31708
VEuPathDBⁱ	HostDB:ENSG00000113971.18
HUGEⁱ	Search...
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG1840, Eukaryota
GeneTreeⁱ	ENSGT00940000156398
HOGENOMⁱ	CLU_1744706_0_0_1
InParanoidⁱ	Q7Z494
OMAⁱ	ERHIMRE
OrthoDBⁱ	377554at2759
PhylomeDBⁱ	Q7Z494
TreeFamⁱ	TF314010

Enzyme and pathway databases

PathwayCommonsⁱ	Q7Z494
Reactomeⁱ	R-HSA-5624138, Trafficking of myristoylated proteins to the cilium

Miscellaneous databases

BioGRID-ORCSⁱ	27031, 31 hits in 995 CRISPR screens
GeneWikiⁱ	NPHP3
GenomeRNAiⁱ	27031
Pharosⁱ	Q7Z494, Tbio
Protein Ontology More...PROⁱ	PR:Q7Z494
RNActⁱ	Q7Z494, protein
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000113971, Expressed in female gonad and 218 other tissues
ExpressionAtlasⁱ	Q7Z494, baseline and differential
Genevisibleⁱ	Q7Z494, HS

Family and domain databases

Gene3Dⁱ	1.25.40.10, 3 hits
InterProⁱ	View protein in InterPro IPR027417, P-loop_NTPase IPR013026, TPR-contain_dom IPR011990, TPR-like_helical_dom_sf IPR019734, TPR_repeat
Pfamⁱ	View protein in Pfam PF13176, TPR_7, 1 hit
SMARTⁱ	View protein in SMART SM00028, TPR, 8 hits
SUPFAMⁱ	SSF48452, SSF48452, 2 hits SSF52540, SSF52540, 1 hit
PROSITEⁱ	View protein in PROSITE PS50005, TPR, 8 hits PS50293, TPR_REGION, 1 hit
ProtoNetⁱ	Search...
MobiDBⁱ	Search...

Entry informationⁱ

Entry nameⁱ	NPHP3_HUMAN
Accessionⁱ	Q7Z494Primary (citable) accession number: Q7Z494 Secondary accession number(s): Q5JPE3 Q96NK2
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	July 5, 2005
	Last sequence update:	October 1, 2003
	Last modified:	April 7, 2021
	This is version 160 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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

3D-structure, Reference proteome

Documents

Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM
Human entries with genetic variants
List of human entries with genetic variants
Human variants curated from literature reports
Index of human variants curated from literature reports
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
PDB cross-references
Index of Protein Data Bank (PDB) cross-references

UniProtKB

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Supporting data

UniProtKB - Q7Z494 (NPHP3_HUMAN)

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Nephrocystin-3

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Other locations

Cytosol

Extracellular region or secreted

Other locations

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Miscellaneous databases

Genetic variation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Q7Z494

Protein-protein interaction databases

Miscellaneous databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Coiled coil

Keywords - Domaini

Phylogenomic databases

Family and domain databases

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Genetic variation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Keywords - Domainⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ