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    zgc:112962 zgc:112962 [ Danio rerio (zebrafish) ]

    Gene ID: 548348, updated on 9-Dec-2024

    Summary

    Official Symbol
    zgc:112962provided by ZNC
    Official Full Name
    zgc:112962provided by ZNC
    Primary source
    ZFIN:ZDB-GENE-050410-15
    See related
    Ensembl:ENSDARG00000069102 AllianceGenome:ZFIN:ZDB-GENE-050410-15
    Gene type
    protein coding
    RefSeq status
    PREDICTED
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    fb82d02; wu:fb82d02
    Summary
    Predicted to enable ATPase activator activity. Predicted to be involved in membrane organization. Predicted to be located in endomembrane system and nucleus. Predicted to be active in membrane. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2Y. Orthologous to several human genes including TOR1AIP2 (torsin 1A interacting protein 2). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
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    Genomic context

    See zgc:112962 in Genome Data Viewer
    Location:
    chromosome: 8
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 8 NC_007119.7 (21052473..21071760, complement)
    105 previous assembly GRCz10 (GCF_000002035.5) 8 NC_007119.6 (21020388..21039848, complement)

    Chromosome 8 - NC_007119.7Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC108179096 Neighboring gene si:dkeyp-82a1.6 Neighboring gene aldehyde dehydrogenase 9 family, member A1a, tandem duplicate 2 Neighboring gene aldehyde dehydrogenase 9 family, member A1a, tandem duplicate 1

    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

    • MGC173689

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables ATPase activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables molecular_function ND
    No biological Data available
    more info
     
    Process Evidence Code Pubs
    involved_in membrane organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in endomembrane system IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    uncharacterized protein LOC548348

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001017552.3NP_001017552.2  uncharacterized protein LOC548348 isoform 2

      Status: PREDICTED

      Source sequence(s)
      BX664618
      UniProtKB/TrEMBL
      A0A8M1N586, F6NX99
      Related
      ENSDARP00000091061.3, ENSDART00000100288.4
    2. NM_001105143.2NP_001098613.2  uncharacterized protein LOC548348 isoform 1

      Status: PREDICTED

      Source sequence(s)
      BX664618
      UniProtKB/TrEMBL
      A0A2R8QDI5, A0A8M2BEC0, A0A8M3AV29
      Related
      ENSDARP00000151017.1, ENSDART00000184184.1
      Conserved Domains (2) summary
      pfam05609
      Location:477728
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)
      cl26761
      Location:7360
      MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]

    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_007119.7 Reference GRCz11 Primary Assembly

      Range
      21052473..21071760 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_068222951.1XP_068079052.1  uncharacterized protein LOC548348 isoform X2

      UniProtKB/TrEMBL
      A0A8M3AV29, A0A8M3B4U5
    2. XM_009303894.4XP_009302169.1  uncharacterized protein LOC548348 isoform X1

      See identical proteins and their annotated locations for XP_009302169.1

      UniProtKB/TrEMBL
      A0A2R8QDI5, A0A8M2BEC0, A0A8M3AV29
      Conserved Domains (2) summary
      pfam05609
      Location:477728
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)
      cl26761
      Location:7360
      MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]
    3. XM_021478252.2XP_021333927.1  uncharacterized protein LOC548348 isoform X1

      UniProtKB/TrEMBL
      A0A2R8QDI5, A0A8M2BEC0, A0A8M3AV29
      Conserved Domains (2) summary
      pfam05609
      Location:477728
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)
      cl26761
      Location:7360
      MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]
    4. XM_068222950.1XP_068079051.1  uncharacterized protein LOC548348 isoform X2

      UniProtKB/TrEMBL
      A0A8M3AV29, A0A8M3B4U5
    5. XM_009303896.4XP_009302171.1  uncharacterized protein LOC548348 isoform X2

      UniProtKB/TrEMBL
      A0A8M3AV29, A0A8M3B4U5
      Related
      ENSDARP00000100558.2, ENSDART00000111600.4
      Conserved Domains (1) summary
      pfam05609
      Location:470721
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)

    Reference GRCz11 ALT_DRER_TU_1

    Genomic

    1. NW_018394720.1 Reference GRCz11 ALT_DRER_TU_1

      Range
      104595..114262 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)