Nphp3 (nephrocystin 3) - Rat Genome Database

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Pathways
Gene: Nphp3 (nephrocystin 3) Rattus norvegicus
Analyze
Symbol: Nphp3
Name: nephrocystin 3
RGD ID: 1563856
Description: Predicted to be involved in several processes, including determination of left/right symmetry; photoreceptor cell maintenance; and regulation of Wnt signaling pathway. Predicted to act upstream of or within several processes, including establishment or maintenance of cell polarity; extracellular matrix organization; and non-motile cilium assembly. Predicted to be located in cilium. Predicted to be active in ciliary base and ciliary inversin compartment. Human ortholog(s) of this gene implicated in Meckel syndrome 7; hypertension; nephronophthisis; nephronophthisis 3; and renal-hepatic-pancreatic dysplasia. Orthologous to human NPHP3 (nephrocystin 3); INTERACTS WITH 3-chloropropane-1,2-diol; bisphenol A; cadmium dichloride.
Type: protein-coding
RefSeq Status: INFERRED
Previously known as: LOC363126; nephrocystin-3; nephronophthisis 3 (adolescent); RGD1563856; similar to nephrocystin 3
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCr8 - GRCr8 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr88113,500,708 - 113,541,179 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl8113,500,509 - 113,541,179 (+)EnsemblGRCr8
mRatBN7.28104,621,908 - 104,662,383 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl8104,621,864 - 104,662,383 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx8110,269,003 - 110,309,487 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.08108,468,194 - 108,508,680 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.08106,310,899 - 106,351,380 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.08112,526,553 - 112,575,745 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8112,526,553 - 112,575,745 (+)Ensemblrn6Rnor6.0
Rnor_5.08111,913,834 - 111,963,488 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.48109,065,400 - 109,105,882 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera8103,986,600 - 104,026,761 (+)NCBICelera
Cytogenetic Map8q32NCBI
JBrowse:




References

References - curated
# Reference Title Reference Citation
1. Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Bergmann C, etal., Am J Hum Genet. 2008 Apr;82(4):959-70. doi: 10.1016/j.ajhg.2008.02.017. Epub 2008 Mar 27.
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. Evidence of oligogenic inheritance in nephronophthisis. Hoefele J, etal., J Am Soc Nephrol. 2007 Oct;18(10):2789-95. Epub 2007 Sep 12.
4. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Olbrich H, etal., Nat Genet. 2003 Aug;34(4):455-9.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. GOA pipeline RGD automated data pipeline
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. Comprehensive gene review and curation RGD comprehensive gene curation
10. Mutations of NPHP2 and NPHP3 in infantile nephronophthisis. Tory K, etal., Kidney Int. 2009 Apr;75(8):839-47. doi: 10.1038/ki.2008.662. Epub 2009 Jan 28.
Additional References at PubMed
PMID:1385849   PMID:7539536   PMID:20007846   PMID:20169535   PMID:20462968   PMID:22085962   PMID:22328406   PMID:22832925   PMID:24178445   PMID:29395339  


Genomics

Comparative Map Data
Nphp3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr88113,500,708 - 113,541,179 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl8113,500,509 - 113,541,179 (+)EnsemblGRCr8
mRatBN7.28104,621,908 - 104,662,383 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl8104,621,864 - 104,662,383 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx8110,269,003 - 110,309,487 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.08108,468,194 - 108,508,680 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.08106,310,899 - 106,351,380 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.08112,526,553 - 112,575,745 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8112,526,553 - 112,575,745 (+)Ensemblrn6Rnor6.0
Rnor_5.08111,913,834 - 111,963,488 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.48109,065,400 - 109,105,882 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera8103,986,600 - 104,026,761 (+)NCBICelera
Cytogenetic Map8q32NCBI
NPHP3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383132,680,609 - 132,722,409 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3132,680,609 - 132,722,432 (-)Ensemblhg38GRCh38
GRCh373132,399,453 - 132,441,253 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363133,882,144 - 133,923,966 (-)NCBIBuild 36Build 36hg18NCBI36
Build 343133,882,151 - 133,923,974NCBI
Celera3130,824,943 - 130,866,763 (-)NCBICelera
Cytogenetic Map3q22.1NCBI
HuRef3129,779,095 - 129,821,371 (-)NCBIHuRef
CHM1_13132,362,464 - 132,404,314 (-)NCBICHM1_1
T2T-CHM13v2.03135,425,099 - 135,466,912 (-)NCBIT2T-CHM13v2.0
Nphp3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm399103,879,743 - 103,921,010 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl9103,879,743 - 103,921,017 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm389104,002,544 - 104,043,811 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl9104,002,544 - 104,043,818 (+)Ensemblmm10GRCm38
MGSCv379103,904,874 - 103,946,141 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv369103,860,949 - 103,901,892 (+)NCBIMGSCv36mm8
Celera9103,555,338 - 103,596,843 (+)NCBICelera
Cytogenetic Map9F1NCBI
cM Map956.11NCBI
Nphp3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555015,799,879 - 5,837,022 (+)Ensembl
ChiLan1.0NW_0049555015,799,879 - 5,837,022 (+)NCBIChiLan1.0ChiLan1.0
NPHP3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22130,629,761 - 130,672,759 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13130,636,218 - 130,677,487 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03129,753,399 - 129,795,300 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13137,229,994 - 137,271,458 (-)NCBIPanPan1.1PanPan1.1panPan2
NPHP3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12329,662,486 - 29,703,629 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2329,645,641 - 29,703,805 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha2329,637,421 - 29,678,561 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.02330,176,434 - 30,217,575 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2330,176,684 - 30,217,513 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12329,872,412 - 29,913,301 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02329,929,544 - 29,970,895 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02330,177,261 - 30,218,423 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Nphp3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560269,251,499 - 69,287,758 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365296,009,301 - 6,049,447 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049365296,013,321 - 6,048,249 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NPHP3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1373,858,427 - 73,900,967 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.11373,843,770 - 73,901,020 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21381,415,846 - 81,445,656 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NPHP3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11557,550,878 - 57,629,106 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1557,551,189 - 57,592,661 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366604130,538,900 - 30,580,436 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nphp3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247308,816,643 - 8,874,649 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046247308,824,370 - 8,874,614 (-)NCBIHetGla 1.0HetGla 1.0hetGla2
Nphp3
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v1895,318,236 - 95,359,272 (+)NCBIRrattus_CSIRO_v1

Variants

.
Variants in Nphp3
429 total Variants
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:64
Count of miRNA genes:49
Interacting mature miRNAs:63
Transcripts:ENSRNOT00000014636
Prediction methods:Miranda, Rnahybrid, Targetscan
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
2303171Bp331Blood pressure QTL 3315.570.005arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)8105462581132782436Rat
1549909Stresp11Stress response QTL 116.830.0019stress-related behavior trait (VT:0010451)number of approaches toward negative stimulus before onset of defensive burying response (CMO:0001960)882352698127352698Rat
631210Bw3Body weight QTL35.9mesenteric fat pad mass (VT:0010427)mesenteric fat pad weight to body weight ratio (CMO:0000654)861019838121662124Rat
1554321Bmd3Bone mineral density QTL 37.90.0001femur mineral mass (VT:0010011)volumetric bone mineral density (CMO:0001553)849849908118871671Rat
9590292Uminl3Urine mineral level QTL 33.620.001urine mineral amount (VT:0015086)urine electrolyte level (CMO:0000593)880768445125768445Rat
8694446Bw170Body weight QTL 17012.070.001retroperitoneal fat pad mass (VT:0010430)retroperitoneal fat pad weight to body weight ratio (CMO:0000635)880768445125768445Rat
631650Stl6Serum triglyceride level QTL 640.0019blood triglyceride amount (VT:0002644)plasma triglyceride level (CMO:0000548)870041301121080908Rat
1581557Eae16Experimental allergic encephalomyelitis QTL 163.8nervous system integrity trait (VT:0010566)experimental autoimmune encephalomyelitis incidence/prevalence measurement (CMO:0001046)868690349119799881Rat
10450865Bw175Body weight QTL 1754.1total fat pad mass (VT:0015008)adipose tissue molecular composition measurement (CMO:0000484)884192326129192326Rat
724539Cm19Cardiac mass QTL 192.6heart mass (VT:0007028)calculated heart weight (CMO:0000073)8103375781129871912Rat
738011Anxrr9Anxiety related response QTL 96.1exploratory behavior trait (VT:0010471)number of entries into a discrete space in an experimental apparatus (CMO:0000960)8102413464132782436Rat
8693654Alc32Alcohol consumption QTL 3220.755drinking behavior trait (VT:0001422)calculated ethanol drink intake rate (CMO:0001615)897492344116428905Rat
70197BpQTLcluster8Blood pressure QTL cluster 83.482arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)855428333127966348Rat
634332Pia18Pristane induced arthritis QTL 184joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)884192326132782436Rat
2316950Scl66Serum cholesterol level QTL 664.1blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)839106363114525825Rat
2300181Bmd55Bone mineral density QTL 555.70.0001femur mineral mass (VT:0010011)volumetric bone mineral density (CMO:0001553)885348065130348065Rat
631217Activ1Activity QTL 115.9voluntary movement trait (VT:0003491)number of photobeam interruptions in an experimental apparatus (CMO:0001517)8111249511117802327Rat
1300171Bp184Blood pressure QTL 1843.66arterial blood pressure trait (VT:2000000)blood pressure time series experimental set point of the baroreceptor response (CMO:0002593)879394435132782436Rat
2313400Anxrr25Anxiety related response QTL 25aggression-related behavior trait (VT:0015014)tameness/aggressiveness composite score (CMO:0002136)898145073122898010Rat
8694200Abfw4Abdominal fat weight QTL 49.070.001visceral adipose mass (VT:0010063)abdominal fat pad weight to body weight ratio (CMO:0000095)880768445125768445Rat
8694392Bw161Body weight QTL 1618.060.001body lean mass (VT:0010483)lean tissue morphological measurement (CMO:0002184)880768445125768445Rat
61437Cia6Collagen induced arthritis QTL 6joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)891340911131690273Rat


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
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
16 12 67 161 91 90 59 86 59 6 349 186 11 140 80 92 31 17 17

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001191882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide JAXUCZ010000008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENSRNOT00000014636   ⟹   ENSRNOP00000014636
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl8113,500,509 - 113,541,179 (+)Ensembl
mRatBN7.2 Ensembl8104,621,864 - 104,662,383 (+)Ensembl
Rnor_6.0 Ensembl8112,526,553 - 112,575,745 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000122199   ⟹   ENSRNOP00000101255
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl8113,500,648 - 113,538,863 (+)Ensembl
RefSeq Acc Id: NM_001191882   ⟹   NP_001178811
RefSeq Status: INFERRED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr88113,500,708 - 113,541,179 (+)NCBI
mRatBN7.28104,621,908 - 104,662,383 (+)NCBI
Rnor_6.08112,526,553 - 112,575,745 (+)NCBI
Rnor_5.08111,913,834 - 111,963,488 (+)NCBI
Celera8103,986,600 - 104,026,761 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001178811 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSRNOP00000014636
  ENSRNOP00000014636.7
  ENSRNOP00000101255.1
RefSeq Acc Id: NP_001178811   ⟸   NM_001191882
- UniProtKB: D4A1W7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000014636   ⟸   ENSRNOT00000014636
Ensembl Acc Id: ENSRNOP00000101255   ⟸   ENSRNOT00000122199

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-D4A1W7-F1-model_v2 AlphaFold D4A1W7 1-1325 view protein structure

Transcriptome

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

Promoters
RGD ID:13696233
Promoter ID:EPDNEW_R6758
Type:multiple initiation site
Name:Nphp3_1
Description:nephrocystin 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.08112,526,536 - 112,526,596EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene RGD:1563856 AgrOrtholog
BioCyc Gene G2FUF-29298 BioCyc
Ensembl Genes ENSRNOG00000048978 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000014636 ENTREZGENE
  ENSRNOT00000014636.8 UniProtKB/TrEMBL
  ENSRNOT00000122199.1 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.10 UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/TrEMBL
InterPro NPHP3-like_N UniProtKB/TrEMBL
  NPHP3_ab_dom UniProtKB/TrEMBL
  NPHP3_hel UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/TrEMBL
  TPR-like_helical UniProtKB/TrEMBL
  TPR_NPHP3 UniProtKB/TrEMBL
  TPR_repeat UniProtKB/TrEMBL
NCBI Gene 363126 ENTREZGENE
PANTHER NEPHROCYSTIN-3 UniProtKB/TrEMBL
  TETRATRICOPEPTIDE REPEAT PROTEIN (AFU_ORTHOLOGUE AFUA_6G03870) UniProtKB/TrEMBL
Pfam NPHP3 UniProtKB/TrEMBL
  NPHP3_hel UniProtKB/TrEMBL
  NPHP3_N UniProtKB/TrEMBL
  TPR_12 UniProtKB/TrEMBL
  TPR_7 UniProtKB/TrEMBL
  TPR_NPHP3 UniProtKB/TrEMBL
PhenoGen Nphp3 PhenoGen
PROSITE TPR UniProtKB/TrEMBL
RatGTEx ENSRNOG00000048978 RatGTEx
SMART TPR UniProtKB/TrEMBL
Superfamily-SCOP SSF48452 UniProtKB/TrEMBL
  SSF52540 UniProtKB/TrEMBL
UniProt A0ABK0L045_RAT UniProtKB/TrEMBL
  D4A1W7 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-08-29 Nphp3  nephrocystin 3  Nphp3  nephronophthisis 3 (adolescent)  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2008-03-06 Nphp3  nephronophthisis 3 (adolescent)  RGD1563856_predicted  similar to nephrocystin 3 (predicted)  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2006-03-07 RGD1563856_predicted  similar to nephrocystin 3 (predicted)  LOC363126  similar to nephrocystin 3  Symbol and Name status set to approved 1299863 APPROVED
2006-02-09 LOC363126  similar to nephrocystin 3      Symbol and Name status set to provisional 70820 PROVISIONAL