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    nphp1 nephronophthisis 1 [ Danio rerio (zebrafish) ]

    Gene ID: 100002391, updated on 9-Dec-2024

    Summary

    Official Symbol
    nphp1provided by ZNC
    Official Full Name
    nephronophthisis 1provided by ZNC
    Primary source
    ZFIN:ZDB-GENE-060929-1234
    See related
    Ensembl:ENSDARG00000009046 AllianceGenome:ZFIN:ZDB-GENE-060929-1234
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    im:7162391; wu:fi59g07; zgc:152930
    Summary
    Acts upstream of or within glial cell development; pronephros development; and retina development in camera-type eye. 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). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
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    Genomic context

    See nphp1 in Genome Data Viewer
    Location:
    chromosome: 17
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 17 NC_007128.7 (22072354..22091141)
    105 previous assembly GRCz10 (GCF_000002035.5) 17 NC_007128.6 (22052518..22071305)

    Chromosome 17 - NC_007128.7Genomic Context describing neighboring genes Neighboring gene tau tubulin kinase 1b Neighboring gene mitoregulin Neighboring gene mal, T cell differentiation protein b Neighboring gene mitochondrial ribosomal protein S5

    Genomic regions, transcripts, and products

    Expression

    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    General gene information

    Markers

    Clone Names

    • MGC152930

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    Component Evidence Code Pubs
    is_active_in cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    nephrocystin-1
    Names
    nephrocystin

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001077170.1NP_001070638.1  nephrocystin-1

      See identical proteins and their annotated locations for NP_001070638.1

      Status: PROVISIONAL

      Source sequence(s)
      BC124181
      UniProtKB/TrEMBL
      Q08CL9
      Related
      ENSDARP00000063715.5, ENSDART00000063716.7
      Conserved Domains (1) summary
      cd11770
      Location:164217
      SH3_Nephrocystin; Src Homology 3 domain of Nephrocystin (or Nephrocystin-1)

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007128.7 Reference GRCz11 Primary Assembly

      Range
      22072354..22091141
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCz11 ALT_DRER_TU_1

    Genomic

    1. NW_018394986.1 Reference GRCz11 ALT_DRER_TU_1

      Range
      330069..343826
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)