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    BLTP3B bridge-like lipid transfer protein family member 3B [ Homo sapiens (human) ]

    Gene ID: 23074, updated on 27-Nov-2024

    Summary

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    Official Symbol
    BLTP3Bprovided by HGNC
    Official Full Name
    bridge-like lipid transfer protein family member 3Bprovided by HGNC
    Primary source
    HGNC:HGNC:29102
    See related
    Ensembl:ENSG00000111647 MIM:619811; AllianceGenome:HGNC:29102
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SHIP164; SHIP164A; UHRF1BP1L
    Summary
    Enables GARP complex binding activity; lipid transfer activity; and protein homodimerization activity. Involved in early endosome to Golgi transport and intermembrane lipid transfer. Located in cytosol and early endosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 7.5), thyroid (RPKM 4.4) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BLTP3B in Genome Data Viewer
    Location:
    12q23.1
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (100037072..100142874, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (99998293..100104109, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (100430850..100536652, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ankyrin repeat and sterile alpha motif domain containing 1B Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:100064333-100064865 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:100074143-100074643 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:100117017-100117569 Neighboring gene golgi associated RAB2 interactor family member 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:100377744-100378574 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4760 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:100414790-100414953 Neighboring gene ribosomal protein S4X pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4761 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:100536197-100536960 Neighboring gene NANOG hESC enhancer GRCh37_chr12:100540373-100541181 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:100546825-100547326 Neighboring gene BLTP3B divergent transcript Neighboring gene dynamin 1 pseudogene 19

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. SHIP164 is a chorein motif lipid transfer protein that controls endosome-Golgi membrane traffic. Hanna MG, et al. J Cell Biol, 2022 Jun 6. PMID 35499567, Free PMC Article
    2. A novel syntaxin 6-interacting protein, SHIP164, regulates syntaxin 6-dependent sorting from early endosomes. Otto GP, et al. Traffic, 2010 May. PMID 20163565
    3. Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2. Hawthorne F, et al. Invest Ophthalmol Vis Sci, 2013 Mar 21. PMID 23422819, Free PMC Article
    4. Methylated DNMT1 and E2F1 are targeted for proteolysis by L3MBTL3 and CRL4(DCAF5) ubiquitin ligase. Leng F, et al. Nat Commun, 2018 Apr 24. PMID 29691401, Free PMC Article
    5. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. Ishikawa K, et al. DNA Res, 1998 Jun 30. PMID 9734811

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SHIP164 is a chorein motif lipid transfer protein that controls endosome-Golgi membrane traffic.
      Title: SHIP164 is a chorein motif lipid transfer protein that controls endosome-Golgi membrane traffic.
    2. 3 genes identified by association study and supported by ocular expression and/or replication, UHRF1BP1L, PTPRR, and PPFIA2, are novel candidates for myopic development within the MYP3 locus that should be further studied.
      Title: Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2.
    3. UHRF1BP1L was identified as an Syntaxin6 interacting protein (called SHIP164) which regulates sorting form coated early endosomes
      Title: A novel syntaxin 6-interacting protein, SHIP164, regulates syntaxin 6-dependent sorting from early endosomes.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0701

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GARP complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables lipid transfer activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in early endosome to Golgi transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in intermembrane lipid transfer IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    bridge-like lipid transfer protein family member 3B
    Names
    UHRF1 (ICBP90) binding protein 1-like
    UHRF1 binding protein 1 like
    syntaxin 6Habc-interacting protein of 164 kDa
    syntaxin-6 Habc-interacting protein of 164 kDa

    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_001006947.2 → NP_001006948.1  bridge-like lipid transfer protein family member 3B isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding region compared to variant 1, that causes a frameshift. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AB014601, AC010203, BC014891, CB988442
      Consensus CDS
      CCDS31883.1
      UniProtKB/Swiss-Prot
      A0JNW5
      Related
      ENSP00000349285.3, ENST00000356828.7
      Conserved Domains (1) summary
      pfam12624
      Location:3 → 96
      Chorein_N; N-terminal region of Chorein or VPS13

    2. NM_015054.2 → NP_055869.1  bridge-like lipid transfer protein family member 3B isoform a

      See identical proteins and their annotated locations for NP_055869.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AB014601, AC010203, AC126474, AL136821, CB988442
      Consensus CDS
      CCDS31882.1
      UniProtKB/Swiss-Prot
      A0JNW5, A0PJE5, O75183, Q8NDL1, Q96C30, Q9BTS5, Q9H0F1
      Related
      ENSP00000279907.7, ENST00000279907.12
      Conserved Domains (1) summary
      pfam12624
      Location:3 → 87
      Chorein_N; N-terminal region of Chorein or VPS13

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      100037072..100142874 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005268739.5 → XP_005268796.1  bridge-like lipid transfer protein family member 3B isoform X2

      Conserved Domains (1) summary
      pfam12624
      Location:3 → 87
      Chorein_N; N-terminal region of Chorein or VPS13

    2. XM_047428554.1 → XP_047284510.1  bridge-like lipid transfer protein family member 3B isoform X1

    3. XM_047428555.1 → XP_047284511.1  bridge-like lipid transfer protein family member 3B isoform X4

      Related
      ENSP00000444824.2, ENST00000545232.6

    4. XM_011538054.4 → XP_011536356.1  bridge-like lipid transfer protein family member 3B isoform X5

      UniProtKB/TrEMBL
      A0A0C4DGH6

    5. XM_017019049.2 → XP_016874538.1  bridge-like lipid transfer protein family member 3B isoform X3

    RNA

    1. XR_007063059.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      99998293..100104109 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371485.1 → XP_054227460.1  bridge-like lipid transfer protein family member 3B isoform X2

    2. XM_054371484.1 → XP_054227459.1  bridge-like lipid transfer protein family member 3B isoform X1

    3. XM_054371487.1 → XP_054227462.1  bridge-like lipid transfer protein family member 3B isoform X4

    4. XM_054371488.1 → XP_054227463.1  bridge-like lipid transfer protein family member 3B isoform X5

    5. XM_054371486.1 → XP_054227461.1  bridge-like lipid transfer protein family member 3B isoform X3

    RNA

    1. XR_008488551.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0JNW5.2 GenPept UniProtKB/Swiss-Prot:A0JNW5

    Gene LinkOut

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