NPHP1 (GeneID: 4867) | Homo sapiens
Description: nephrocystin 1 [Source:HGNC Symbol;Acc:HGNC:7905]
Synonyms: JBTS4, SLSN1, NPH1
Other ID(s): ENSG00000144061, HGNC:7905
Protein Accession Numbers: NP_000263, ENST00000316534.4, NP_997064, ENST00000422492, NP_001121651, ENST00000393272, ENST00000449600, ENST00000316534, NP_001361186, ENST00000418527, NP_001121650, ENST00000355301, ENST00000445609, NP_001361185, ENST00000417665
Statistics: ClinVar(140)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000316534 ENST00000355301 ENST00000393272 ENST00000417665 ENST00000418527 ENST00000422492 ENST00000445609 ENST00000449600 NP_000263 NP_001121650 NP_001121651 NP_001361185 NP_001361186 NP_997064


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00018 SH3_1 SH3 domain 161-207 CL0010 SH3 Mus musculus

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Cholestasis Digestive System Diseases ; 0.619 0.552
Congenital ocular coloboma (disorder) Eye Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.619 0.552
Kidney Diseases Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.619 0.552
Renal dysplasia and retinal aplasia (disorder) Nervous System Diseases ; Eye Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.619 0.552
Bardet-Biedl Syndrome Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.619 0.552
Cholestasis in newborn N/A 0.619 0.552
Cystic Kidney Diseases Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.619 0.552
JOUBERT SYNDROME 4 (disorder) Nervous System Diseases ; Eye Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.619 0.552
Nephronophthisis, familial juvenile Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.619 0.552
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.619 0.552
Ciliopathies Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.619 0.552
NO RESULT FOUND
feedback