HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
LAPTM4A
lysosomal protein transmembrane 4 alpha
Chromosome 2 · 2p24.1
NCBI Gene: 9741Ensembl: ENSG00000068697.8HGNC: HGNC:6924UniProt: Q15012
42PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
late endosome membranelysosomal membraneGolgi apparatusprotein bindingAbnormality of limbsfacial painAbnormality of the skeletal systemglioma
✦AI Summary

LAPTM4A is a lysosomal transmembrane protein involved in nucleoside transport and intracellular protein trafficking. The protein localizes to the Golgi apparatus, late endosomes, and lysosomal membranes 1. Mechanistically, LAPTM4A is a short-lived membrane protein subject to ubiquitin-dependent degradation via the ESCRT pathway, utilizing carboxyl-terminal PY motifs to recruit NEDD4-1 for ubiquitination 2. LAPTM4A interacts with organic cation transporter 2 (hOCT2) to regulate its plasma membrane trafficking and cation transport activity 3. In glycosylation, LAPTM4A specifically regulates globotriaosylceramide (Gb3) biosynthesis through its second luminal domain, acting as an activator for Gb3-synthesizing glycosyltransferases 1. Clinically, LAPTM4A demonstrates significant disease relevance. In glioblastoma, elevated LAPTM4A promotes M2 polarization of tumor-associated macrophages, suppressing anti-tumor immunity; LAPTM4A deletion shifts macrophages toward M1 phenotypes and enhances anti-PD-1 therapy efficacy 4. LAPTM4A represents a robust prognostic biomarker in glioma, correlating with poor outcomes and tumor progression 5. In gestational diabetes, LAPTM4A participates in a regulatory axis with circular RNA hsa_circ_0042260 and miR-4782-3p, modulating hyperglycemia-induced cell responses 6. Additionally, LAPTM4A serves as a predictive biomarker for 5-fluorouracil resistance in colorectal cancer 7 and is incorporated into lysosome-related prognostic models for cervical cancer 8.

Sources cited
1
LAPTM4A is a short-lived lysosomal membrane protein degraded via ubiquitin-dependent ESCRT machinery using carboxyl-terminal PY motifs to recruit NEDD4-1
PMID: 34297722
2
LAPTM4A promotes M2 polarization of tumor-associated macrophages in glioblastoma; LAPTM4A deficiency enhances anti-PD-1 immunotherapy efficacy
PMID: 40500284
3
LAPTM4A participates in hsa_circ_0042260/miR-4782-3p/LAPTM4A regulatory axis in gestational diabetes mellitus
PMID: 38588560
4
LAPTM4A interacts with hOCT2 and negatively regulates its plasma membrane localization and organic cation transport function
PMID: 21553234
5
LAPTM4A is a transcriptomic biomarker associated with 5-fluorouracil resistance in colorectal cancer
PMID: 36675023
6
LAPTM4A specifically regulates globotriaosylceramide biosynthesis; its second luminal domain acts as an activator for Gb3-synthesizing glycosyltransferases
PMID: 30481169
7
LAPTM4A is a robust biomarker upregulated in glioma, associated with poor prognosis, EMT, tumor microenvironment, and immunotherapy response
PMID: 38613802
8
LAPTM4A is incorporated into a five-gene lysosome-associated prognostic model for cervical cancer
PMID: 40707912
Disease Associationsⓘ20
Abnormality of limbsOpen Targets
0.30Weak
facial painOpen Targets
0.25Weak
Abnormality of the skeletal systemOpen Targets
0.24Weak
gliomaOpen Targets
0.10Weak
bladder calculusOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
nephrolithiasisOpen Targets
0.07Suggestive
respiratory tract infectious disorderOpen Targets
0.06Suggestive
osteoarthritis, hipOpen Targets
0.06Suggestive
osteoarthritis, kneeOpen Targets
0.06Suggestive
Romano-Ward syndromeOpen Targets
0.06Suggestive
glioblastoma multiformeOpen Targets
0.05Suggestive
cancerOpen Targets
0.05Suggestive
Brugada syndromeOpen Targets
0.05Suggestive
osteoarthritisOpen Targets
0.05Suggestive
Familial short QT syndromeOpen Targets
0.05Suggestive
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.04Suggestive
AcheiropodiaOpen Targets
0.04Suggestive
Acromesomelic dysplasia, Grebe typeOpen Targets
0.04Suggestive
atrial fibrillationOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LAPTM4BProtein interaction92%LAPTM5Protein interaction92%NEDD4Protein interaction71%TM9SF2Co-mentioned in literature20%
Tissue Expression6 tissues
Heart
100%
Ovary
97%
Lung
82%
Liver
71%
Brain
65%
Bone Marrow
59%
Gene Interaction Network
Click a node to explore
LAPTM4ALAPTM4BLAPTM5NEDD4TM9SF2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q15012
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.18LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.73 [0.46–1.18]
RankingsWhere LAPTM4A stands among ~20K protein-coding genes
  • #9,897of 20,598
    Most Researched42
  • #12,315of 17,882
    Most Constrained (LOEUF)1.18
Genes detectedLAPTM4A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A  conserved ubiquitin- and ESCRT-dependent pathway internalizes human lysosomal membrane proteins for degradation.
PMID: 34297722
PLoS Biol · 2021
1.00
2
Loss of LAPTM4A inhibits M2 polarization of tumor-associated macrophages in glioblastoma, promoting immune activation and enhancing anti-PD1 therapy.
PMID: 40500284
Commun Biol · 2025
0.90
3
The role of hsa_circ_0042260/miR-4782-3p/LAPTM4A axis in gestational diabetes mellitus.
PMID: 38588560
APMIS · 2024
0.80
4
LAPTM4A interacts with hOCT2 and regulates its endocytotic recruitment.
PMID: 21553234
Cell Mol Life Sci · 2011
0.70
5
New Transcriptomic Biomarkers of 5-Fluorouracil Resistance.
PMID: 36675023
Int J Mol Sci · 2023
0.60