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
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
Expression: Ubiquitous expression in heart (RPKM 97.2), testis (RPKM 52.3) and 23 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 8q22.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
109.20201120	current	GRCh38.p13 (GCF_000001405.39)	8	NC_000008.11 (97775788..97853013)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (98787809..98864830)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
LAPTM4B is related to lung adenocarcinoma (LAC) progression and might be a potential biomarker and theraputic target for LAC.
Title: LAPTM4B is a novel diagnostic and prognostic marker for lung adenocarcinoma and associated with mutant EGFR.
Results confirm the possible role of the LAPTM4B gene in anthracycline resistance in HR- breast cancer.
Title: LAPTM4B gene copy number gain is associated with inferior response to anthracycline-based chemotherapy in hormone receptor negative breast carcinomas.
LAPTM4B-35 is significantly deregulated in PDAC with high diagnostic and prognostic impact as circulating tumor marker.
Title: Clinical impact of circulating LAPTM4B-35 in pancreatic ductal adenocarcinoma.
AP4 and LAPTM4B are highly coexpressed in hepatocellular carcinoma tissues, and their coexpression may be a marker of poor prognosis.
Title: AP4 positively regulates LAPTM4B to promote hepatocellular carcinoma growth and metastasis, while reducing chemotherapy sensitivity.
Findings identify LAPTM4B as a direct AP4 target gene and the interaction of AP4 and LAPTM4B plays an important role in breast cancer progression.Implications: This study demonstrates that AP4 promotes cell growth, migration, invasion, and cisplatin resistance through upregulation of LAPTM4B expression.
Title: The Transcription Factor AP4 Promotes Oncogenic Phenotypes and Cisplatin Resistance by Regulating <i>LAPTM4B</i> Expression.

Submit: New GeneRIF Correction See all GeneRIFs (75)

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. GeneReviews: Not available

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

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: 338 organisms have orthologs with human gene LAPTM4B
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ceramide binding	IDA Inferred from Direct Assay more info	PubMed
kinase binding	IPI Inferred from Physical Interaction more info	PubMed
phosphatidylinositol bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
endosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
endosome transport via multivesicular body sorting pathway	IDA Inferred from Direct Assay more info	PubMed
negative regulation of lysosomal protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of transforming growth factor beta1 production	IDA Inferred from Direct Assay more info	PubMed
regulation of lysosomal membrane permeability	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of lysosome organization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
cell projection	IDA Inferred from Direct Assay more info	PubMed
early endosome	IDA Inferred from Direct Assay more info	PubMed
endosome	IDA Inferred from Direct Assay more info	PubMed
integral component of membrane	IEA Inferred from Electronic Annotation more info
late endosome membrane	IDA Inferred from Direct Assay more info	PubMed
lysosomal membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
lysosome	IDA Inferred from Direct Assay more info	PubMed
multivesicular body membrane	IDA Inferred from Direct Assay more info	PubMed
multivesicular body, internal vesicle	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: lysosomal-associated transmembrane protein 4B

Names: lysosomal associated protein transmembrane 4 beta; lysosome-associated transmembrane protein 4-beta

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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

CCDS6275.1

Related

ENSP00000428409.1, ENST00000521545.7

Conserved Domains (1) summary

cl04276
Location:9 → 226

Mtp; Golgi 4-transmembrane spanning transporter