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NPHP1 [cytosol]
Stable Identifier
R-HSA-5626654
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
NPH1
Locations in the PathwayBrowser
Expand all
Organelle biogenesis and maintenance (Homo sapiens)
Cilium Assembly (Homo sapiens)
Anchoring of the basal body to the plasma membrane (Homo sapiens)
CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body (Homo sapiens)
basal body:transition zone proteins [cytosol] (Homo sapiens)
NPHP complex [cytosol] (Homo sapiens)
NPHP1 [cytosol] (Homo sapiens)
basal body:transition zone proteins:RAB3IP:RAB11A:GTP:Golgi-derived vesicle [cytosol] (Homo sapiens)
basal body:transition zone proteins [cytosol] (Homo sapiens)
NPHP complex [cytosol] (Homo sapiens)
NPHP1 [cytosol] (Homo sapiens)
RAB3IP stimulates nucleotide exchange on RAB8A (Homo sapiens)
basal body:transition zone proteins:RAB3IP:RAB11A:GTP:Golgi-derived vesicle [cytosol] (Homo sapiens)
basal body:transition zone proteins [cytosol] (Homo sapiens)
NPHP complex [cytosol] (Homo sapiens)
NPHP1 [cytosol] (Homo sapiens)
Recruitment of transition zone proteins (Homo sapiens)
NPHP complex [cytosol] (Homo sapiens)
NPHP1 [cytosol] (Homo sapiens)
basal body:transition zone proteins [cytosol] (Homo sapiens)
NPHP complex [cytosol] (Homo sapiens)
NPHP1 [cytosol] (Homo sapiens)
External Reference Information
External Reference
UniProt:O15259 NPHP1
Gene Names
NPHP1, NPH1
Chain
chain:1-732
Reference Genes
BioGPS Gene:4867 NPHP1
COSMIC (genes):NPHP1 NPHP1
CTD Gene:4867 NPHP1
dbSNP Gene:4867 NPHP1
ENSEMBL:ENSG00000144061 NPHP1
HGNC:7905 NPHP1
KEGG:hsa:4867 NPHP1
Monarch:4867 NPHP1
NCBI Gene:4867 NPHP1
OMIM:607100 NPHP1
UCSC:O15259 NPHP1
Reference Transcript
RefSeq:NM_001128179.1 NPHP1
RefSeq:NM_001128178.1 NPHP1
RefSeq:NM_000272.3 NPHP1
RefSeq:NM_207181.2 NPHP1
Other Identifiers
11741477_a_at
16901632
206285_3p_at
206285_PM_at
206285_at
238843_PM_at
238843_at
238844_PM_s_at
238844_s_at
2570239
2570240
2570241
2570242
2570243
2570244
2570245
2570246
2570247
2570248
2570249
2570250
2570251
2570252
2570253
2570254
2570255
2570256
2570257
2570258
2570259
2570261
2570263
2570264
2570265
2570266
2570267
2570269
2570270
2570271
2570272
2570273
2570274
2570275
2570276
2570277
2570278
2570279
2570280
2570281
2570282
40384_at
4867
71118_at
8054486
A_23_P108970
A_24_P88801
GE58212
GO:0005198
GO:0005515
GO:0005737
GO:0005829
GO:0005856
GO:0005911
GO:0005912
GO:0005923
GO:0005929
GO:0007010
GO:0007155
GO:0007165
GO:0007283
GO:0007632
GO:0016020
GO:0022414
GO:0030030
GO:0030036
GO:0030154
GO:0031514
GO:0032391
GO:0043226
GO:0048515
GO:0048856
GO:0060041
GO:0090251
GO:0098609
GO:1903348
HMNXSV003043229
HMNXSV003054130
Hs.211782.0.A1_3p_at
Hs.211782.0.A1_3p_s_at
ILMN_1730796
ILMN_1764127
ILMN_1784478
ILMN_2252300
PH_hs_0023432
PH_hs_0039167
TC02002195.hg
g4557804_3p_x_at
Participates
as a component of
NPHP complex [cytosol] (Homo sapiens)
Inferred To
nphp1 [cytosol]
(Xenopus tropicalis)
Nphp1 [cytosol]
(Mus musculus)
Nphp1 [cytosol]
(Rattus norvegicus)
NPHP1 [cytosol]
(Bos taurus)
NPHP1 [cytosol]
(Canis familiaris)
NPHP1 [cytosol]
(Gallus gallus)
NPHP1 [cytosol]
(Sus scrofa)
Cross References
ENSEMBL
ENST00000393272
,
ENSP00000347452
,
ENSP00000502475
,
ENSG00000144061
,
ENSP00000313169
,
ENSP00000376953
,
ENST00000676053
,
ENST00000355301
,
ENST00000445609
,
ENSP00000389879
,
ENST00000316534
OpenTargets
ENSG00000144061
GeneCards
NPHP1
HPA
ENSG00000144061-NPHP1
PRO
O15259
Pharos - Targets
O15259
GlyGen
O15259
Orphanet
NPHP1
PDB
6O1Q
,
1S1N
Interactors (1)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:O75161 NPHP4
1
NPHP4 [cytosol]
(R-HSA-2059925)
0.899
20
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