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    LAPTM4B lysosomal protein transmembrane 4 beta [ Homo sapiens (human) ]

    Gene ID: 55353, updated on 10-Dec-2024

    Summary

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    Official Symbol
    LAPTM4Bprovided by HGNC
    Official Full Name
    lysosomal protein transmembrane 4 betaprovided by HGNC
    Primary source
    HGNC:HGNC:13646
    See related
    Ensembl:ENSG00000104341 MIM:613296; AllianceGenome:HGNC:13646
    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
    LC27; LAPTM4beta
    Summary
    Enables ceramide binding activity; enzyme binding activity; and phosphatidylinositol bisphosphate binding activity. Involved in several processes, including negative regulation of macromolecule metabolic process; regulation of lysosomal membrane permeability; and regulation of lysosome organization. Located in several cellular components, including endosome; lysosomal membrane; and plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in heart (RPKM 97.2), testis (RPKM 52.3) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LAPTM4B in Genome Data Viewer
    Location:
    8q22.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (97775788..97853013)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (98901267..98978513)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (98788016..98865241)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:98656262-98657242 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:98657243-98658221 Neighboring gene metadherin Neighboring gene MPRA-validated peak7115 silencer Neighboring gene uncharacterized LOC124901986 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:98786357-98786856 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:98787884-98788846 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:98788847-98789808 Neighboring gene NANOG hESC enhancer GRCh37_chr8:98789991-98790612 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:98794740-98795248 Neighboring gene TMEM69 pseudogene 1 Neighboring gene SUMO2 pseudogene 18 Neighboring gene ribosomal protein S23 pseudogene 1

    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. Association of LAPTM4B gene polymorphism with nasopharyngeal carcinoma susceptibility in a Chinese population. Wang B, et al. Med Oncol, 2013 Mar. PMID 23345117
    2. Association of LAPTM4B gene polymorphism with breast cancer susceptibility. Fan M, et al. Cancer Epidemiol, 2012 Aug. PMID 22270081
    3. Correlation of LAPTM4B polymorphisms with gallbladder carcinoma susceptibility in Chinese patients. Yang H, et al. Med Oncol, 2012 Dec. PMID 22302286
    4. LAPTM4B polymorphisms is associated with ovarian cancer susceptibility and its prognosis. Xu Y, et al. Jpn J Clin Oncol, 2012 May. PMID 22412199
    5. LAPTM4B allele *2 is a marker of poor prognosis following hepatic tumor resection for hepatocellular carcinoma. Yang H, et al. PLoS One, 2012. PMID 22509374, Free PMC Article

    See all (105) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HDAC2 promotes autophagy-associated HCC malignant progression by transcriptionally activating LAPTM4B.
      Title: HDAC2 promotes autophagy-associated HCC malignant progression by transcriptionally activating LAPTM4B.
    2. LAPTM4B-mediated hepatocellular carcinoma stem cell proliferation and MDSC migration: implications for HCC progression and sensitivity to PD-L1 monoclonal antibody therapy.
      Title: LAPTM4B-mediated hepatocellular carcinoma stem cell proliferation and MDSC migration: implications for HCC progression and sensitivity to PD-L1 monoclonal antibody therapy.
    3. LAPTM4B promotes AML progression through regulating RPS9/STAT3 axis.
      Title: LAPTM4B promotes AML progression through regulating RPS9/STAT3 axis.
    4. Screening of four key genes in esophageal carcinoma based on TCGA and GEO data and verification of anti-proliferative effect of LAPTM4B knockdown in esophageal carcinoma cells invitro.
      Title: Screening of four key genes in esophageal carcinoma based on TCGA and GEO data and verification of anti-proliferative effect of LAPTM4B knockdown in esophageal carcinoma cells invitro.
    5. [Serum LAPTM4B-35 protein as a novel diagnostic marker for hepatocellular carcinoma].
      Title: [Serum LAPTM4B-35 protein as a novel diagnostic marker for hepatocellular carcinoma].
    6. LAPTM4B controls the sphingolipid and ether lipid signature of small extracellular vesicles.
      Title: LAPTM4B controls the sphingolipid and ether lipid signature of small extracellular vesicles.
    7. Lysosomal-associated transmembrane protein 4B regulates ceramide-induced exosome release.
      Title: Lysosomal-associated transmembrane protein 4B regulates ceramide-induced exosome release.
    8. Overexpression of LAPTM4B-35 is a negative prognostic factor in head and neck squamous cell carcinoma.
      Title: Overexpression of LAPTM4B-35 is a negative prognostic factor in head and neck squamous cell carcinoma.
    9. Lysosome Associated Protein Transmembrane 4B-24 Is the Predominant Protein Isoform in Human Tissues and Undergoes Rapid, Nutrient-Regulated Turnover.
      Title: Lysosome Associated Protein Transmembrane 4B-24 Is the Predominant Protein Isoform in Human Tissues and Undergoes Rapid, Nutrient-Regulated Turnover.
    10. Epithelial-to-mesenchymal transition in Gastric Cancer is promoted by a combination of LAPTM4B overexpression and H. pylori infection.
      Title: Helicobacter pylori infection promotes epithelial-to-mesenchymal transition of gastric cells by upregulating LAPTM4B.
    Submit: New GeneRIF Correction See all GeneRIFs (83)

    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

    EBI GWAS Catalog

    Description
    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
    EBI GWAS Catalog

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ceramide binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables phosphatidylinositol bisphosphate binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in endosome organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in endosome transport via multivesicular body sorting pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of lysosomal protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of transforming growth factor beta1 production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of lysosomal membrane permeability IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of lysosome organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell projection IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in late endosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in multivesicular body membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in multivesicular body, internal vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    lysosomal-associated transmembrane protein 4B
    Names
    lysosomal associated protein transmembrane 4 beta
    lysosome-associated transmembrane protein 4-beta

    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_018407.6 → NP_060877.4  lysosomal-associated transmembrane protein 4B

      Status: VALIDATED

      Source sequence(s)
      AI079853, AP002906, AP003357, AY261384
      Consensus CDS
      CCDS6275.2
      Related
      ENSP00000428409.1, ENST00000521545.7
      Conserved Domains (1) summary
      cl04276
      Location:9 → 226
      Mtp; Golgi 4-transmembrane spanning transporter

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      97775788..97853013
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      98901267..98978513
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86VI4.2 GenPept UniProtKB/Swiss-Prot:Q86VI4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools