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    Bltp1 bridge-like lipid transfer protein family member 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 294978, updated on 10-Oct-2024

    Summary

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    Official Symbol
    Bltp1provided by RGD
    Official Full Name
    bridge-like lipid transfer protein family member 1provided by RGD
    Primary source
    RGD:1307100
    See related
    EnsemblRapid:ENSRNOG00000038436 AllianceGenome:RGD:1307100
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    RGD1307100; RGD1309985; RGD1561393
    Summary
    Predicted to be involved in endocytic recycling; phagocytosis; and synaptic vesicle endocytosis. Predicted to be located in presynapse. Predicted to be integral component of membrane. Human ortholog(s) of this gene implicated in Alkuraya-Kucinskas syndrome. Orthologous to human KIAA1109 (KIAA1109). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in Brain (RPKM 325.5), Thymus (RPKM 276.4) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Bltp1 in Genome Data Viewer
    Location:
    2q25
    Exon count:
    88
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 2 NC_086020.1 (121636181..121852802)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 2 NC_051337.1 (119708114..119924697)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 2 NC_005101.4 (123555742..123766675)

    Chromosome 2 - NC_086020.1Genomic Context describing neighboring genes Neighboring gene transient receptor potential cation channel, subfamily C, member 3 Neighboring gene ribosomal protein L7, pseudogene 22 Neighboring gene THUMP domain containing 1, pseudogene 1 Neighboring gene adenosine deaminase domain containing 1 Neighboring gene interleukin 2 Neighboring gene interleukin 21

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Endosomal trafficking defects in patient cells with KIAA1109 biallelic variants. Kane MS, et al. Genes Dis, 2019 Mar. PMID 30906834, Free PMC Article
    2. Systematic Identification of Host Cell Regulators of Legionella pneumophila Pathogenesis Using a Genome-wide CRISPR Screen. Jeng EE, et al. Cell Host Microbe, 2019 Oct 9. PMID 31540829, Free PMC Article
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC112866

    Gene Ontology Provided by RGD

    Process Evidence Code Pubs
    involved_in endocytic recycling ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in endosomal transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in phagocytosis ISO
    Inferred from Sequence Orthology
    more info
    		  
    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
    		  
    located_in presynapse 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_001371241.1 → NP_001358170.1  bridge-like lipid transfer protein family member 1

      Status: VALIDATED

      Source sequence(s)
      BC100102, JAXUCZ010000002
      UniProtKB/TrEMBL
      A0A096MJT6, A0A8I6ASD5
      Related
      ENSRNOP00000092752.2, ENSRNOT00000118559.2
      Conserved Domains (1) summary
      pfam10479
      Location:4381 → 4988
      FSA_C; Fragile site-associated protein C-terminus

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086020.1 Reference GRCr8

      Range
      121636181..121852802
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039101992.2 → XP_038957920.1  bridge-like lipid transfer protein family member 1 isoform X1

      UniProtKB/TrEMBL
      F1LVK0
      Conserved Domains (1) summary
      pfam10479
      Location:4469 → 5076
      FSA_C; Fragile site-associated protein C-terminus

    2. XM_039101994.2 → XP_038957922.1  bridge-like lipid transfer protein family member 1 isoform X3

      UniProtKB/TrEMBL
      F1LVK0
      Conserved Domains (1) summary
      pfam10479
      Location:4468 → 5075
      FSA_C; Fragile site-associated protein C-terminus

    3. XM_039101997.2 → XP_038957925.1  bridge-like lipid transfer protein family member 1 isoform X7

      UniProtKB/TrEMBL
      F1LVK0
      Conserved Domains (1) summary
      pfam10479
      Location:4434 → 5041
      FSA_C; Fragile site-associated protein C-terminus

    4. XM_039101998.2 → XP_038957926.1  bridge-like lipid transfer protein family member 1 isoform X8

      UniProtKB/TrEMBL
      F1LVK0
      Conserved Domains (1) summary
      pfam10479
      Location:4433 → 5040
      FSA_C; Fragile site-associated protein C-terminus

    5. XM_039101996.2 → XP_038957924.1  bridge-like lipid transfer protein family member 1 isoform X6

      UniProtKB/TrEMBL
      A0A8I6ASD5
      Related
      ENSRNOP00000097287.1, ENSRNOT00000098363.2
      Conserved Domains (1) summary
      pfam10479
      Location:4448 → 5055
      FSA_C; Fragile site-associated protein C-terminus

    6. XM_039102001.2 → XP_038957929.1  bridge-like lipid transfer protein family member 1 isoform X10

      UniProtKB/TrEMBL
      F1LVK0
      Related
      ENSRNOP00000068256.2, ENSRNOT00000075947.4
      Conserved Domains (1) summary
      pfam10479
      Location:4402 → 5009
      FSA_C; Fragile site-associated protein C-terminus

    7. XM_063281567.1 → XP_063137637.1  bridge-like lipid transfer protein family member 1 isoform X11

    8. XM_039101995.2 → XP_038957923.1  bridge-like lipid transfer protein family member 1 isoform X4

      UniProtKB/TrEMBL
      F1LVK0
      Related
      ENSRNOP00000055350.4, ENSRNOT00000058552.5
      Conserved Domains (1) summary
      pfam10479
      Location:4452 → 5059
      FSA_C; Fragile site-associated protein C-terminus

    9. XM_063281568.1 → XP_063137638.1  bridge-like lipid transfer protein family member 1 isoform X12

    10. XM_039101993.2 → XP_038957921.1  bridge-like lipid transfer protein family member 1 isoform X2

      UniProtKB/TrEMBL
      F1LVK0
      Conserved Domains (1) summary
      pfam10479
      Location:4468 → 5075
      FSA_C; Fragile site-associated protein C-terminus

    11. XM_063281566.1 → XP_063137636.1  bridge-like lipid transfer protein family member 1 isoform X5

    12. XM_039101999.2 → XP_038957927.1  bridge-like lipid transfer protein family member 1 isoform X9

      UniProtKB/TrEMBL
      F1LVK0
      Conserved Domains (1) summary
      pfam10479
      Location:4423 → 5030
      FSA_C; Fragile site-associated protein C-terminus

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001037184.1: Suppressed sequence

      Description
      NM_001037184.1: This RefSeq was suppressed temporarily based on the calculation that the encoded protein was shorter than proteins from the putative ortholog from human: KIAA1109 (GeneID:84162).
    Nucleotide Protein Strain
    Heading Accession and Version

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