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

Summary

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, Apr 2022]
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

Location:: 8q22.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (97775788..97853013)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (98901267..98978513)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (98788016..98865241)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
[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].
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.
Lysosomal-associated transmembrane protein 4B regulates ceramide-induced exosome release.
Title: Lysosomal-associated transmembrane protein 4B regulates ceramide-induced exosome release.
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.
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.
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.
Lysosome-associated transmembrane protein 4B (LAPTM4B) is overexpressed in triple-negative breast cancer. The knockdown of LAPTM4B restores cyclin-dependent kinase inhibitor p27 (p27kip1) expression and inhibits the aggressiveness of breast cancer cells.
Title: Prognostic significance of LAPTM4B and p27kip1 expression in triple-negative breast cancer.
In the current study, we performed a meta-analysis to find out the exact role of LAPTM4B polymorphism on risk of cancer. The results revealed that LAPTM4B polymorphism significantly increased the risk of cancer in codominant, dominant, overdominant, and allele genetic inheritance models
Title: LAPTM4B gene polymorphism augments the risk of cancer: Evidence from an updated meta-analysis.
Results show that LAPTM4B expression breast cancer cells is inversely correlated and regulated by mir-132 which bind to its 3'UTR.
Title: MicroRNA-132-3p inhibits tumor malignant progression by regulating lysosomal-associated protein transmembrane 4 beta in breast cancer.

Submit: New GeneRIF Correction See all GeneRIFs (80)

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 EBI GWAS CatalogPubMed

Variation

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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

D11S2560 (e-PCR)
- UniSTS:37928

RH65107 (e-PCR)
- UniSTS:90479

D15S1477 (e-PCR)
- UniSTS:474482

SHGC-31823 (e-PCR)
- UniSTS:52358

D11S3114 (e-PCR)
- UniSTS:152207

WI-18673 (e-PCR)
- UniSTS:75462

Homology

Homologs of the LAPTM4B gene: The LAPTM4B gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 466 organisms have orthologs with human gene LAPTM4B
Orthologs

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	PubMed
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)

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