Nphp1 (nephrocystin 1) - Rat Genome Database

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Gene: Nphp1 (nephrocystin 1) Rattus norvegicus
Analyze
Symbol: Nphp1
Name: nephrocystin 1
RGD ID: 1308136
Description: Predicted to be involved in several processes, including photoreceptor cell outer segment organization; positive regulation of bicellular tight junction assembly; and protein localization involved in establishment of planar polarity. Predicted to be located in several cellular components, including ciliary base; motile cilium; and photoreceptor distal connecting cilium. Predicted to be active in cilium and cytoplasm. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Joubert syndrome 4; Senior-Loken syndrome; nephronophthisis; and nephronophthisis 1. Orthologous to human NPHP1 (nephrocystin 1); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 4,4'-sulfonyldiphenol; acetamide.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: hypothetical protein LOC680233; LOC296136; LOC680233; nephrocystin-1; nephronophthisis 1 (juvenile); nephronophthisis 1 (juvenile) homolog; nephronophthisis 1 (juvenile) homolog (human)
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCr8 - GRCr8 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83135,413,927 - 135,469,505 (-)NCBIGRCr8
mRatBN7.23114,960,650 - 115,016,234 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3114,960,650 - 115,016,234 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3118,850,405 - 118,906,075 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03127,445,951 - 127,501,619 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03125,106,321 - 125,161,956 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03120,316,048 - 120,370,089 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3120,316,047 - 120,373,500 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03126,960,471 - 127,017,986 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43115,263,821 - 115,322,901 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13115,169,392 - 115,225,028 (-)NCBI
Celera3113,795,120 - 113,850,690 (-)NCBICelera
Cytogenetic Map3q36NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Stop codon at arginine 586 is the prevalent nephronopthisis type 1 mutation in Italy. Caridi G, etal., Nephrol Dial Transplant. 2006 Aug;21(8):2301-3. Epub 2006 Jun 8.
2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
3. Rat ISS GO annotations from GOA human gene data--August 2006 GOA data from the GO Consortium
4. Evidence of oligogenic inheritance in nephronophthisis. Hoefele J, etal., J Am Soc Nephrol. 2007 Oct;18(10):2789-95. Epub 2007 Sep 12.
5. Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion. Hoefele J, etal., Pediatr Nephrol. 2011 Jun;26(6):967-71. doi: 10.1007/s00467-011-1761-9. Epub 2011 Jan 22.
6. Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Lindstrand A, etal., Am J Hum Genet. 2014 May 1;94(5):745-54. doi: 10.1016/j.ajhg.2014.03.017. Epub 2014 Apr 17.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing. Otto EA, etal., Hum Mutat. 2008 Mar;29(3):418-26.
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. Comprehensive gene review and curation RGD comprehensive gene curation
12. Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience. Soliman NA, etal., Saudi J Kidney Dis Transpl. 2012 Sep;23(5):1090-8. doi: 10.4103/1319-2442.100968.
13. High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. Tory K, etal., J Am Soc Nephrol. 2007 May;18(5):1566-75. Epub 2007 Apr 4.
Additional References at PubMed
PMID:12477932   PMID:16885411   PMID:18684731   PMID:19208653   PMID:19755384   PMID:20081859   PMID:20169535   PMID:21565611   PMID:24302887   PMID:29899041  


Genomics

Comparative Map Data
Nphp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83135,413,927 - 135,469,505 (-)NCBIGRCr8
mRatBN7.23114,960,650 - 115,016,234 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3114,960,650 - 115,016,234 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3118,850,405 - 118,906,075 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03127,445,951 - 127,501,619 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03125,106,321 - 125,161,956 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03120,316,048 - 120,370,089 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3120,316,047 - 120,373,500 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03126,960,471 - 127,017,986 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43115,263,821 - 115,322,901 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13115,169,392 - 115,225,028 (-)NCBI
Celera3113,795,120 - 113,850,690 (-)NCBICelera
Cytogenetic Map3q36NCBI
NPHP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382110,123,348 - 110,205,013 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2110,122,311 - 110,205,066 (-)EnsemblGRCh38hg38GRCh38
GRCh372110,880,925 - 110,962,590 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362110,237,177 - 110,319,883 (-)NCBINCBI36Build 36hg18NCBI36
Build 342110,292,999 - 110,319,969NCBI
Celera2104,844,788 - 104,926,515 (+)NCBICelera
Cytogenetic Map2q13NCBI
HuRef2104,021,273 - 104,102,972 (-)NCBIHuRef
CHM1_12110,885,220 - 110,966,946 (-)NCBICHM1_1
T2T-CHM13v2.02110,588,729 - 110,670,393 (+)NCBIT2T-CHM13v2.0
Nphp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392127,582,652 - 127,630,833 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2127,582,652 - 127,630,817 (-)EnsemblGRCm39 Ensembl
GRCm382127,740,732 - 127,788,913 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2127,740,732 - 127,788,897 (-)EnsemblGRCm38mm10GRCm38
MGSCv372127,566,468 - 127,614,590 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362127,432,171 - 127,480,295 (-)NCBIMGSCv36mm8
Celera2128,973,360 - 129,021,982 (-)NCBICelera
Cytogenetic Map2F1NCBI
cM Map262.09NCBI
Nphp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554703,260,557 - 3,307,797 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554703,261,455 - 3,305,989 (+)NCBIChiLan1.0ChiLan1.0
NPHP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21217,572,890 - 17,654,493 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A17,575,655 - 17,657,258 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A91,520,612 - 91,602,187 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A111,625,267 - 111,706,205 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A111,625,267 - 111,706,205 (-)Ensemblpanpan1.1panPan2
NPHP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11735,076,527 - 35,136,674 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1735,076,636 - 35,136,425 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1734,845,437 - 34,905,231 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01735,847,583 - 35,907,539 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1735,847,691 - 35,907,474 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11734,975,730 - 35,035,512 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01735,044,554 - 35,103,753 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01735,253,888 - 35,313,793 (-)NCBIUU_Cfam_GSD_1.0
NPHP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl346,316,875 - 46,377,273 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1346,316,864 - 46,378,279 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2347,952,796 - 48,013,146 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NPHP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11413,520,573 - 13,589,980 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1413,520,541 - 13,589,146 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660806,101,274 - 6,169,926 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nphp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247491,725,598 - 1,779,344 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247491,725,515 - 1,779,787 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:120
Count of miRNA genes:101
Interacting mature miRNAs:105
Transcripts:ENSRNOT00000067727
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCr8)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1582233Insul10Insulin level QTL 105.40.0015blood insulin amount (VT:0001560)serum insulin level times blood glucose level (CMO:0002040)3133259579178259579Rat
2301414Kidm37Kidney mass QTL 370.001kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)396509147141509147Rat
1582238Bw68Body weight QTL 683.20.0064body mass (VT:0001259)body weight (CMO:0000012)373592512136118980Rat
2302373Gluco39Glucose level QTL 395.01blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)3129154923182114333Rat
1582239Epfw1Epididymal fat weight QTL 14.50.0006epididymal fat pad mass (VT:0010421)epididymal fat pad weight to body weight ratio (CMO:0000658)373592512136118980Rat
70216Cm14Cardiac mass QTL 142.1heart mass (VT:0007028)heart wet weight (CMO:0000069)351581665184004958Rat
2292591Esta4Estrogen-induced thymic atrophy QTL 4thymus mass (VT:0004954)thymus wet weight (CMO:0000855)367641776167835660Rat
1358362Srcrt2Stress Responsive Cort QTL 22.78blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)358601291153936591Rat
1582216Bw65Body weight QTL 656.3body mass (VT:0001259)body weight (CMO:0000012)3122654702136118980Rat
737818Hcar12Hepatocarcinoma resistance QTL 122.6liver integrity trait (VT:0010547)volume of individual liver tumorous lesion (CMO:0001078)349872657138829559Rat
1582218Bw74Body weight QTL 743.90.0021body mass (VT:0001259)body weight (CMO:0000012)373592512136118980Rat
1582219Bw63Body weight QTL 633.80.001body mass (VT:0001259)body weight (CMO:0000012)3116582412136118980Rat
1582221Kidm30Kidney mass QTL 303.50.0008kidney mass (VT:0002707)both kidneys wet weight (CMO:0000085)385062224136118980Rat
1582210Bw71Body weight QTL 713.30.0012body mass (VT:0001259)body weight (CMO:0000012)385062224136118980Rat
1578754Stresp16Stress response QTL 1640.001blood renin amount (VT:0003349)plasma renin activity level (CMO:0000116)3133134628178134628Rat
1300111Rf12Renal function QTL 123.78renal blood flow trait (VT:2000006)absolute change in renal blood flow rate (CMO:0001168)381425008141509147Rat
724523Tsu1Thymus enlargement suppressive QTL 13.84thymus mass (VT:0004954)thymus weight to body weight ratio (CMO:0000612)370845569136091483Rat
1600376Arunc5Aerobic running capacity QTL 50.21exercise endurance trait (VT:0002332)maximum distance run on treadmill (CMO:0001406)393829559138829559Rat
8694437Bw167Body weight QTL 16722.460.001retroperitoneal fat pad mass (VT:0010430)retroperitoneal fat pad weight to body weight ratio (CMO:0000635)3112250810157250810Rat
8662816Vetf4Vascular elastic tissue fragility QTL 44renal artery integrity trait (VT:0010642)number of ruptures of the internal elastic lamina of the renal arteries (CMO:0002563)379649560177741895Rat
1581503Cm58Cardiac mass QTL 582.70.05heart left ventricle mass (VT:0007031)heart left ventricle weight to body weight ratio (CMO:0000530)396509147141509147Rat
1354611Despr2Despair related QTL 23.030.0028locomotor behavior trait (VT:0001392)amount of time spent in voluntary immobility (CMO:0001043)3117537367162537367Rat
2303620Vencon4Ventilatory control QTL 43.9respiration trait (VT:0001943)tidal volume (CMO:0000222)3125116475170116475Rat
631649Bp123Blood pressure QTL 1233.2arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)3110225882155225882Rat
12879848Bw181Body weght QTL 1810.015body mass (VT:0001259)body weight (CMO:0000012)390755164141509147Rat
5686842Rf59Renal function QTL 59urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)3122395989167395989Rat
2301971Cm71Cardiac mass QTL 714.63heart left ventricle mass (VT:0007031)heart left ventricle weight (CMO:0000776)3131036586176036586Rat
1358885Bp251Blood pressure QTL 2513.8arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)31141509147Rat
2301970Bw81Body weight QTL 815.19body mass (VT:0001259)body weight (CMO:0000012)3131036586176036586Rat
1581546Pur13Proteinuria QTL 132.930.0335urine total protein amount (VT:0000032)urine protein excretion rate (CMO:0000759)398651826167012663Rat
631665Bw8Body weight QTL 85.5body mass (VT:0001259)body weight (CMO:0000012)3125814931139636791Rat
1331758Bp207Blood pressure QTL 2072.848arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)3110634702155634702Rat
1358888Bp264Blood pressure QTL 2644.43arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)35675975141509147Rat
724532Cm17Cardiac mass QTL 172heart mass (VT:0007028)calculated heart weight (CMO:0000073)3116188400161188400Rat

Markers in Region
RH143152  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.23114,979,231 - 114,979,467 (+)MAPPERmRatBN7.2
Rnor_6.03120,334,628 - 120,334,863NCBIRnor6.0
Rnor_5.03126,999,170 - 126,999,405UniSTSRnor5.0
RGSC_v3.43115,282,402 - 115,282,637UniSTSRGSC3.4
Celera3113,813,700 - 113,813,935UniSTS
RH 3.4 Map3986.9UniSTS
Cytogenetic Map3q36UniSTS
BF403450  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.23114,962,104 - 114,962,314 (+)MAPPERmRatBN7.2
Rnor_6.03120,317,501 - 120,317,710NCBIRnor6.0
Rnor_5.03127,016,323 - 127,016,532UniSTSRnor5.0
RGSC_v3.43115,265,275 - 115,265,484UniSTSRGSC3.4
Celera3113,796,573 - 113,796,782UniSTS
RH 3.4 Map3985.7UniSTS
Cytogenetic Map3q36UniSTS
BF398852  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.23114,962,149 - 114,962,301 (+)MAPPERmRatBN7.2
Rnor_6.03120,317,546 - 120,317,697NCBIRnor6.0
Rnor_5.03127,016,336 - 127,016,487UniSTSRnor5.0
RGSC_v3.43115,265,320 - 115,265,471UniSTSRGSC3.4
Celera3113,796,618 - 113,796,769UniSTS
RH 3.4 Map3985.7UniSTS
Cytogenetic Map3q36UniSTS
AU047816  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.23114,991,235 - 114,991,454 (+)MAPPERmRatBN7.2
Rnor_6.03120,346,631 - 120,346,847NCBIRnor6.0
Rnor_5.03126,987,186 - 126,987,402UniSTSRnor5.0
RGSC_v3.43115,294,405 - 115,294,621UniSTSRGSC3.4
Celera3113,825,708 - 113,825,924UniSTS
Cytogenetic Map3q36UniSTS


Expression

RNA-SEQ Expression

alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
9 11 49 113 91 90 59 25 59 6 218 97 93 45 60 31

Sequence


Ensembl Acc Id: ENSRNOT00000067727   ⟹   ENSRNOP00000060013
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl3114,960,650 - 115,016,234 (-)Ensembl
Rnor_6.0 Ensembl3120,316,047 - 120,373,500 (-)Ensembl
RefSeq Acc Id: NM_001314002   ⟹   NP_001300931
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr83135,413,927 - 135,469,505 (-)NCBI
mRatBN7.23114,960,650 - 115,016,234 (-)NCBI
Rnor_6.03120,316,048 - 120,370,089 (-)NCBI
Celera3113,795,120 - 113,850,690 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001314003   ⟹   NP_001300932
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr83135,413,927 - 135,469,505 (-)NCBI
mRatBN7.23114,960,650 - 115,016,234 (-)NCBI
Rnor_6.03120,316,048 - 120,370,089 (-)NCBI
Celera3113,795,120 - 113,850,690 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001314004   ⟹   NP_001300933
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr83135,413,927 - 135,469,505 (-)NCBI
mRatBN7.23114,960,650 - 115,016,234 (-)NCBI
Rnor_6.03120,316,048 - 120,370,089 (-)NCBI
Celera3113,795,120 - 113,850,690 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001300931 (Get FASTA)   NCBI Sequence Viewer  
  NP_001300932 (Get FASTA)   NCBI Sequence Viewer  
  NP_001300933 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI68839 (Get FASTA)   NCBI Sequence Viewer  
  EDL80128 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSRNOP00000060013.2
RefSeq Acc Id: NP_001300933   ⟸   NM_001314004
- Peptide Label: isoform c
- UniProtKB: B5DEX2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001300932   ⟸   NM_001314003
- Peptide Label: isoform b
- UniProtKB: B5DEX2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001300931   ⟸   NM_001314002
- Peptide Label: isoform a
- UniProtKB: D3ZJ87 (UniProtKB/TrEMBL),   B5DEX2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000060013   ⟸   ENSRNOT00000067727
Protein Domains
SH3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-D3ZJ87-F1-model_v2 AlphaFold D3ZJ87 1-457 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen


Additional Information

Database Acc Id Source(s)
AGR Gene RGD:1308136 AgrOrtholog
BioCyc Gene G2FUF-47961 BioCyc
Ensembl Genes ENSRNOG00000015756 Ensembl, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000067727.3 UniProtKB/TrEMBL
Gene3D-CATH SH3 Domains UniProtKB/TrEMBL
InterPro NPHP1 UniProtKB/TrEMBL
  NPHP1_SH3 UniProtKB/TrEMBL
  SH3-like_dom_sf UniProtKB/TrEMBL
  SH3_domain UniProtKB/TrEMBL
KEGG Report rno:296136 UniProtKB/TrEMBL
NCBI Gene 296136 ENTREZGENE
PANTHER NEPHROCYSTIN UniProtKB/TrEMBL
  PTHR15176:SF1 UniProtKB/TrEMBL
Pfam SH3_1 UniProtKB/TrEMBL
PhenoGen Nphp1 PhenoGen
PRINTS SH3DOMAIN UniProtKB/TrEMBL
PROSITE SH3 UniProtKB/TrEMBL
RatGTEx ENSRNOG00000015756 RatGTEx
SMART SH3 UniProtKB/TrEMBL
Superfamily-SCOP SSF50044 UniProtKB/TrEMBL
UniProt B5DEX2 ENTREZGENE, UniProtKB/TrEMBL
  D3ZJ87 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-20 Nphp1  nephrocystin 1  Nphp1  nephronophthisis 1 (juvenile)  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2015-07-29 Nphp1  nephronophthisis 1 (juvenile)  LOC680233  hypothetical protein LOC680233  Data merged from RGD:1594198 737654 PROVISIONAL
2013-01-22 Nphp1  nephronophthisis 1 (juvenile)  Nphp1  nephronophthisis 1 (juvenile) homolog (human)  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2008-04-30 Nphp1  nephronophthisis 1 (juvenile) homolog (human)   Nphp1_predicted  nephronophthisis 1 (juvenile) homolog (human) (predicted)  'predicted' is removed 2292626 APPROVED
2008-01-09 LOC680233  hypothetical protein LOC680233  LOC688095  hypothetical protein LOC688095  Data merged from RGD:1593568 1643240 APPROVED
2006-11-20 LOC680233  hypothetical protein LOC680233      Symbol and Name status set to provisional 70820 PROVISIONAL
2006-11-20 LOC688095  hypothetical protein LOC688095      Symbol and Name status set to provisional 70820 PROVISIONAL
2006-03-30 Nphp1_predicted  nephronophthisis 1 (juvenile) homolog (human) (predicted)    nephronophthisis 1 (juvenile) (predicted)  Name updated 1299863 APPROVED
2005-01-12 Nphp1_predicted  nephronophthisis 1 (juvenile) (predicted)      Symbol and Name status set to approved 70820 APPROVED