LAPTM5 lysosomal protein transmembrane 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LAPTM5provided by HGNC
Official Full Name: lysosomal protein transmembrane 5provided by HGNC
Primary source: HGNC:HGNC:29612
See related: Ensembl:ENSG00000162511 MIM:601476; AllianceGenome:HGNC:29612
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: CLAST6
Summary: This gene encodes a transmembrane receptor that is associated with lysosomes. The encoded protein, also known as E3 protein, may play a role in hematopoiesis. [provided by RefSeq, Feb 2009]
Expression: Broad expression in bone marrow (RPKM 488.0), lymph node (RPKM 349.3) and 15 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p35.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (30732469..30757774, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (30584986..30610292, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (31205316..31230621, complement)

Chromosome 1 - NC_000001.11 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?

Genome-Scale CRISPR screen identifies LAPTM5 driving lenvatinib resistance in hepatocellular carcinoma.
Title: Genome-Scale CRISPR screen identifies LAPTM5 driving lenvatinib resistance in hepatocellular carcinoma.
LAPTM5 regulated by FOXP3 promotes the malignant phenotypes of breast cancer through activating the Wnt/betacatenin pathway.
Title: LAPTM5 regulated by FOXP3 promotes the malignant phenotypes of breast cancer through activating the Wnt/β‑catenin pathway.
LAPTM5 mediates immature B cell apoptosis and B cell tolerance by regulating the WWP2-PTEN-AKT pathway.
Title: LAPTM5 mediates immature B cell apoptosis and B cell tolerance by regulating the WWP2-PTEN-AKT pathway.
Lysosomal protein transmembrane 5 promotes lung-specific metastasis by regulating BMPR1A lysosomal degradation.
Title: Lysosomal protein transmembrane 5 promotes lung-specific metastasis by regulating BMPR1A lysosomal degradation.
LAPTM5 Restricts HIV-1 Infection in Dendritic Cells and Is Counteracted by Vpr.
Title: LAPTM5 Restricts HIV-1 Infection in Dendritic Cells and Is Counteracted by Vpr.
Comprehensive bioinformatics analysis identifies LAPTM5 as a potential blood biomarker for hypertensive patients with left ventricular hypertrophy.
Title: Comprehensive bioinformatics analysis identifies LAPTM5 as a potential blood biomarker for hypertensive patients with left ventricular hypertrophy.
Spinespecific downregulation of LAPTM5 expression promotes the progression and spinal metastasis of estrogen receptorpositive breast cancer by activating glutaminedependent mTOR signaling.
Title: Spine‑specific downregulation of LAPTM5 expression promotes the progression and spinal metastasis of estrogen receptor‑positive breast cancer by activating glutamine‑dependent mTOR signaling.
LCDR regulates the integrity of lysosomal membrane by hnRNP K-stabilized LAPTM5 transcript and promotes cell survival.
Title: LCDR regulates the integrity of lysosomal membrane by hnRNP K-stabilized LAPTM5 transcript and promotes cell survival.
Vpr counteracts the restriction of LAPTM5 to promote HIV-1 infection in macrophages.
Title: Vpr counteracts the restriction of LAPTM5 to promote HIV-1 infection in macrophages.
These findings suggest that the inactivation of LAPTM5 may contribute to tumorigenesis in a subset of human cancers
Title: Down-regulation of LAPTM5 in human cancer cells.

Submit: New GeneRIF Correction See all GeneRIFs (17)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of lysosomal protein transmembrane 5 (LAPTM5) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-12619 (e-PCR)
- UniSTS:34365

NoName (e-PCR)
- UniSTS:489816

RH25313 (e-PCR)
- UniSTS:72285

AL033732 (e-PCR)
- UniSTS:93601

LAPTM5_1436 (e-PCR)
- UniSTS:280818

Clone Names

FLJ61683, FLJ97251, MGC125860, MGC125861

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein sequestering activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-modified protein reader activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in Golgi to lysosome transport	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in defense response to tumor cell	IDA Inferred from Direct Assay more info	PubMed
involved_in induction of programmed cell death	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular protein transport	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of B cell activation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of T cell activation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of T cell receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of autophagic cell death	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of interleukin-2 production	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of type II interferon production	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of MAPK cascade	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of cytokine production involved in immune response	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of interleukin-12 production	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of lysosomal membrane permeability	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of macrophage cytokine production	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of non-canonical NF-kappaB signal transduction	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of protein ubiquitination	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of receptor catabolic process	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of tumor necrosis factor-mediated signaling pathway	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of ubiquitin-dependent protein catabolic process	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in protein targeting to lysosome	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
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 perinuclear region of cytoplasm	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
located_in transport vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: lysosomal-associated transmembrane protein 5

Names: CD40-ligand-activated specific transcripts; human retinoic acid-inducible E3 protein; lysosomal associated multispanning membrane protein 5; lysosomal multispanning membrane protein 5; lysosomal-associated multitransmembrane protein 5; retinoic acid-inducible E3 protein

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_006762.3 → NP_006753.1 lysosomal-associated transmembrane protein 5

See identical proteins and their annotated locations for NP_006753.1

Status: REVIEWED

Source sequence(s)

AL137857, BC106897, D42042

Consensus CDS

CCDS337.1

UniProtKB/Swiss-Prot

Q13240, Q13571, Q14698, Q3KP54

UniProtKB/TrEMBL

B4DLI5, D3DPN1, Q5TBB8

Related

ENSP00000294507.3, ENST00000294507.4

Conserved Domains (1) summary

pfam03821
Location:28 → 261

Mtp; Golgi 4-transmembrane spanning transporter

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

30732469..30757774 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011542098.3 → XP_011540400.1 lysosomal-associated transmembrane protein 5 isoform X1

Conserved Domains (1) summary

cl04276
Location:30 → 204

Mtp; Golgi 4-transmembrane spanning transporter