UniProtKB - Q7Z494 (NPHP3_HUMAN)
Nephrocystin-3
NPHP3
Functioni
GO - Biological processi
- atrial septum development Source: BHF-UCL
- cilium assembly Source: UniProtKB
- convergent extension involved in gastrulation Source: BHF-UCL
- determination of intestine left/right asymmetry Source: BHF-UCL
- determination of left/right symmetry Source: BHF-UCL
- determination of liver left/right asymmetry Source: BHF-UCL
- determination of pancreatic left/right asymmetry Source: BHF-UCL
- determination of stomach left/right asymmetry Source: BHF-UCL
- epithelial cilium movement involved in determination of left/right asymmetry Source: BHF-UCL
- heart looping Source: BHF-UCL
- kidney development Source: BHF-UCL
- kidney morphogenesis Source: BHF-UCL
- lung development Source: BHF-UCL
- maintenance of animal organ identity Source: HGNC-UCL
- negative regulation of canonical Wnt signaling pathway Source: UniProtKB
- photoreceptor cell maintenance Source: HGNC-UCL
- regulation of planar cell polarity pathway involved in neural tube closure Source: BHF-UCL
- regulation of Wnt signaling pathway, planar cell polarity pathway Source: UniProtKB
- ureter development Source: BHF-UCL
- Wnt signaling pathway Source: UniProtKB-KW
Keywordsi
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 | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:7907, NPHP3 |
MIMi | 608002, gene |
neXtProti | NX_Q7Z494 |
VEuPathDBi | HostDB:ENSG00000113971.18 |
Subcellular locationi
Other locations
- cilium 2 Publications
Note: Localization to cilium is mediated via interaction with UNC119 and UNC119B, which bind to the myristoyl moiety of the N-terminus.
Cytosol
- cytosol Source: Reactome
Extracellular region or secreted
- extracellular region Source: GOC
Other locations
- cilium Source: UniProtKB
Keywords - Cellular componenti
Cell projection, CiliumPathology & Biotechi
Involvement in diseasei
Nephronophthisis 3 (NPHP3)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | 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
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
Keywords - Diseasei
Ciliopathy, Disease variant, Meckel syndrome, NephronophthisisOrganism-specific databases
DisGeNETi | 27031 |
GeneReviewsi | NPHP3 |
MalaCardsi | NPHP3 |
MIMi | 208540, phenotype 267010, phenotype 604387, phenotype |
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 |
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, MyristateProteomic 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] |
PTM databases
CarbonylDBi | Q7Z494 |
iPTMneti | Q7Z494 |
PhosphoSitePlusi | Q7Z494 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000113971, Expressed in female gonad and 218 other tissues |
ExpressionAtlasi | Q7Z494, baseline and differential |
Genevisiblei | Q7Z494, HS |
Organism-specific databases
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 PublicationsBinary interactionsi
Hide detailsProtein-protein interaction databases
BioGRIDi | 117962, 35 interactors |
CORUMi | Q7Z494 |
IntActi | Q7Z494, 21 interactors |
MINTi | Q7Z494 |
STRINGi | 9606.ENSP00000338766 |
Miscellaneous databases
RNActi | Q7Z494, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q7Z494 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | 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 repeatPhylogenomic databases
eggNOGi | KOG1840, Eukaryota |
GeneTreei | ENSGT00940000156398 |
HOGENOMi | CLU_1744706_0_0_1 |
InParanoidi | Q7Z494 |
OMAi | ERHIMRE |
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 |
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 |
s (7+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 7 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 7 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0YAM4 | H0YAM4_HUMAN | Nephrocystin-3 | NPHP3 | 87 | Annotation score: | ||
F2Z3A8 | F2Z3A8_HUMAN | Nephrocystin-3 | NPHP3 | 538 | Annotation score: | ||
A0A0C4DG93 | A0A0C4DG93_HUMAN | Nephrocystin-3 | NPHP3 | 123 | Annotation score: |
Sequence cautioni
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 | Graphical view | 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 | Graphical view | 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 |
CCDSi | CCDS3078.1 [Q7Z494-1] |
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 |
UCSCi | uc003epe.3, human [Q7Z494-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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: PDBei RCSB PDBi 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 |
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... |
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 |
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 proteomeDocuments
- 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