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

Gene ID: 23074, updated on 3-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
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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 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)

Genotypes

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

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