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

Gene ID: 55353, updated on 2-Nov-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, Nov 2024]
Expression
Ubiquitous expression in heart (RPKM 97.2), testis (RPKM 52.3) and 23 other tissues See more
Orthologs
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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 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)

Genotypes

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
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