LAPTM4A lysosomal protein transmembrane 4 alpha [Homo sapiens (human)] - Gene

Summary

Official Symbol: LAPTM4Aprovided by HGNC
Official Full Name: lysosomal protein transmembrane 4 alphaprovided by HGNC
Primary source: HGNC:HGNC:6924
See related: Ensembl:ENSG00000068697 MIM:618837; AllianceGenome:HGNC:6924
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MBNT; Mtrp; LAPTM4; HUMORF13
Summary: This gene encodes a protein that has four predicted transmembrane domains. The function of this gene has not yet been determined; however, studies in the mouse homolog suggest a role in the transport of small molecules across endosomal and lysosomal membranes. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in endometrium (RPKM 245.2), testis (RPKM 209.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p24.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (20032650..20051628, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (20066155..20085173, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (20232411..20251389, complement)

Chromosome 2 - NC_000002.12 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The role of hsa_circ_0042260/miR-4782-3p/LAPTM4A axis in gestational diabetes mellitus.
Title: The role of hsa_circ_0042260/miR-4782-3p/LAPTM4A axis in gestational diabetes mellitus.
New Transcriptomic Biomarkers of 5-Fluorouracil Resistance.
Title: New Transcriptomic Biomarkers of 5-Fluorouracil Resistance.
LAPTM4alpha is targeted from the Golgi to late endosomes/lysosomes in a manner dependent on the E3 ubiquitin ligase Nedd4-1 and ESCRT proteins.
Title: LAPTM4α is targeted from the Golgi to late endosomes/lysosomes in a manner dependent on the E3 ubiquitin ligase Nedd4-1 and ESCRT proteins.
hOCT2 interacts with LAPTM4A in lysosomes and late endosomes and regulates endocytotic recruitment.
Title: LAPTM4A interacts with hOCT2 and regulates its endocytotic recruitment.

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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
Genome-wide association analysis of gender differences in major depressive disorder in the Netherlands NESDA and NTR population-based samples. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

G20533 (e-PCR)
- UniSTS:8237

A005V18 (e-PCR)
- UniSTS:8238

RH17379 (e-PCR)
- UniSTS:76386

D2S1999 (e-PCR)
- UniSTS:6577

LAPTM4A_1462 (e-PCR)
- UniSTS:277446

LAPTM4A_v493 (e-PCR)
- UniSTS:277446

RH25334 (e-PCR)
- UniSTS:82633

RH118716 (e-PCR)
- UniSTS:109302

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	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

General protein information

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Preferred Names: lysosomal-associated transmembrane protein 4A

Names: golgi 4-transmembrane-spanning transporter MTP; lysosomal-associated protein transmembrane 4 alpha; membrane nucleoside transporter

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.