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    kiaa1109 KIAA1109 [ Danio rerio (zebrafish) ]

    Gene ID: 564367, updated on 9-Dec-2024

    Summary

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    Official Symbol
    kiaa1109provided by ZNC
    Official Full Name
    KIAA1109provided by ZNC
    Primary source
    ZFIN:ZDB-GENE-090313-98
    See related
    Ensembl:ENSDARG00000062330 AllianceGenome:ZFIN:ZDB-GENE-090313-98
    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
    bltp1; si:ch211-233a24.2
    Summary
    Predicted to be involved in synaptic vesicle endocytosis. Predicted to be located in membrane. Used to study Alkuraya-Kucinskas syndrome. Human ortholog(s) of this gene implicated in Alkuraya-Kucinskas syndrome. Orthologous to human BLTP1 (bridge-like lipid transfer protein family member 1). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See kiaa1109 in Genome Data Viewer
    Location:
    chromosome: 13
    Exon count:
    87
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 13 NC_007124.7 (12784317..12985934)
    105 previous assembly GRCz10 (GCF_000002035.5) 13 NC_007124.6 (12651802..12853459)

    Chromosome 13 - NC_007124.7Genomic Context describing neighboring genes Neighboring gene leucine rich repeat and Ig domain containing 2b Neighboring gene zgc:100846 Neighboring gene uncharacterized LOC110438971 Neighboring gene nuclear receptor binding SET domain protein 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

    Bibliography

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    Related articles in PubMed

    1. KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. Gueneau L, et al. Am J Hum Genet, 2018 Jan 4. PMID 29290337, Free PMC Article
    2. A conserved megaprotein-based molecular bridge critical for lipid trafficking and cold resilience. Wang C, et al. Nat Commun, 2022 Nov 10. PMID 36357390, Free PMC Article
    3. 15000 unique zebrafish EST clusters and their future use in microarray for profiling gene expression patterns during embryogenesis. Lo J, et al. Genome Res, 2003 Mar. PMID 12618376, Free PMC Article
    4. Evolution of complexity in the zebrafish synapse proteome. Bayés À, et al. Nat Commun, 2017 Mar 2. PMID 28252024, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by ZFIN

    Process Evidence Code Pubs
    involved_in synaptic vesicle endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    bridge-like lipid transfer protein family member 1

    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_001145584.1 → NP_001139056.1  bridge-like lipid transfer protein family member 1

      Status: PROVISIONAL

      Source sequence(s)
      CR555301, CT573111
      UniProtKB/Swiss-Prot
      A0A0R4IES7
      UniProtKB/TrEMBL
      A0A8N7UZ92, B8JIA1
      Related
      ENSDARP00000133547.1, ENSDART00000164040.2
      Conserved Domains (1) summary
      pfam10479
      Location:4295 → 4903
      FSA_C; Fragile site-associated protein C-terminus

    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_007124.7 Reference GRCz11 Primary Assembly

      Range
      12784317..12985934
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_021480615.2 → XP_021336290.2  bridge-like lipid transfer protein family member 1 isoform X1

      UniProtKB/Swiss-Prot
      A0A0R4IES7

    2. XM_068212893.1 → XP_068068994.1  bridge-like lipid transfer protein family member 1 isoform X3

      UniProtKB/Swiss-Prot
      A0A0R4IES7

    3. XM_068212892.1 → XP_068068993.1  bridge-like lipid transfer protein family member 1 isoform X2

      UniProtKB/Swiss-Prot
      A0A0R4IES7

    4. XM_068212895.1 → XP_068068996.1  bridge-like lipid transfer protein family member 1 isoform X7

      UniProtKB/Swiss-Prot
      A0A0R4IES7

    5. XM_021480618.2 → XP_021336293.2  bridge-like lipid transfer protein family member 1 isoform X8

      UniProtKB/Swiss-Prot
      A0A0R4IES7

    6. XM_021480616.2 → XP_021336291.2  bridge-like lipid transfer protein family member 1 isoform X4

      UniProtKB/Swiss-Prot
      A0A0R4IES7

    7. XM_068212894.1 → XP_068068995.1  bridge-like lipid transfer protein family member 1 isoform X5

      UniProtKB/Swiss-Prot
      A0A0R4IES7

    8. XM_021480619.2 → XP_021336294.2  bridge-like lipid transfer protein family member 1 isoform X9

      UniProtKB/Swiss-Prot
      A0A0R4IES7

    9. XM_021480620.2 → XP_021336295.2  bridge-like lipid transfer protein family member 1 isoform X10

      UniProtKB/Swiss-Prot
      A0A0R4IES7

    10. XM_009307179.4 → XP_009305454.1  bridge-like lipid transfer protein family member 1 isoform X11

      UniProtKB/Swiss-Prot
      A0A0R4IES7
      UniProtKB/TrEMBL
      A0A8M3B529
      Conserved Domains (1) summary
      pfam10479
      Location:4292 → 4900
      FSA_C; Fragile site-associated protein C-terminus

    11. XM_021480617.2 → XP_021336292.2  bridge-like lipid transfer protein family member 1 isoform X6

      UniProtKB/Swiss-Prot
      A0A0R4IES7

    Reference GRCz11 ALT_DRER_TU_1

    Genomic

    1. NW_018394871.1 Reference GRCz11 ALT_DRER_TU_1

      Range
      26501..217218
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCz11 ALT_DRER_TU_2

    Genomic

    1. NW_018395307.1 Reference GRCz11 ALT_DRER_TU_2

      Range
      2351..42269
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A0R4IES7.1 GenPept UniProtKB/Swiss-Prot:A0A0R4IES7

    Gene LinkOut

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