LAMTOR3 late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LAMTOR3provided by HGNC
Official Full Name: late endosomal/lysosomal adaptor, MAPK and MTOR activator 3provided by HGNC
Primary source: HGNC:HGNC:15606
See related: Ensembl:ENSG00000109270 MIM:603296; AllianceGenome:HGNC:15606
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: MP1; MAPBP; MAPKSP1; PRO0633; MAP2K1IP1; Ragulator3
Summary: This gene encodes a scaffold protein that functions in the extracellular signal-regulated kinase (ERK) cascade. The protein is localized to late endosomes by the mitogen-activated protein-binding protein-interacting protein, and binds specifically to MAP kinase kinase MAP2K1/MEK1, MAP kinase MAPK3/ERK1, and MAP kinase MAPK1/ERK2. Studies of the orthologous gene in mouse indicate that it regulates late endosomal traffic and cell proliferation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 13. [provided by RefSeq, Aug 2011]
Expression: Ubiquitous expression in thyroid (RPKM 13.3), brain (RPKM 11.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q23

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (99878336..99894546, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (103193819..103210029, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (100799493..100815703, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

LAMTOR3 is a prognostic biomarker in kidney renal clear cell carcinoma.
Title: LAMTOR3 is a prognostic biomarker in kidney renal clear cell carcinoma.
Circ_0075829 facilitates the progression of pancreatic carcinoma by sponging miR-1287-5p and activating LAMTOR3 signalling.
Title: Circ_0075829 facilitates the progression of pancreatic carcinoma by sponging miR-1287-5p and activating LAMTOR3 signalling.
LAMTOR3 is highly expressed in bladder carcinoma cell lines and tissues and plays a key role in the development and progression of bladder carcinoma.
Title: [Expression and Clinical Significance of Late Endosomal/Lysosomal Adaptor,Mitogen-activated Protein Kinase and Mammalian Target of Rapamycin Activator 3 in Bladder Carcinoma].
Studied role of MEK partner-1 (LAMTOR3) in driving MEK/ERK pathway in EGFRviii-expressing glioma cells.
Title: Role of MEK partner-1 in cancer stemness through MEK/ERK pathway in cancerous neural stem cells, expressing EGFRviii.
BCL2 expression in mesennchymal lung cancer cells was induced by ERK1 activity through the upregulation of the MEK1/ERK1 scaffold protein MEK partner-1. Interfering with the MEK1/MP1/ERK1 axis using a MEK1 inhibitor or MP1 depletion repressed BCL2 expression and sensitized MLCCs to chemoradiotherapy.
Title: BCL2 induced by LAMTOR3/MAPK is a druggable target of chemoradioresistance in mesenchymal lung cancer.
The present study was aimed at investigating whether the miR-29c binding site single nucleotide polymorphisms within the 3'-UTRs of LAMTOR3 gene affected the gastric cancer risk.
Title: A miR-29c binding site genetic variant in the 3'-untranslated region of LAMTOR3 gene is associated with gastric cancer risk.
we demonstrate that the MAPK scaffold protein MEK partner 1 (MP1) is important for gastrin-induced phosphorylation of ERK1 and ERK2 and that MP1 promotes gastrin-induced proliferation of AGS-GR cells
Title: Gastrin-induced proliferation involves MEK partner 1 (MP1).
identified polymorphisms in LAMTOR2 and LAMTOR3 do not seem to play a relevant role in breast cancer
Title: Polymorphisms in the gene regions of the adaptor complex LAMTOR2/LAMTOR3 and their association with breast cancer risk.
A complex encoded by the MAPKSP1, ROBLD3, and c11orf59 genes interacts with the Rag GTPases, recruits them to lysosomes, and is essential for mTORC1 activation
Title: Ragulator-Rag complex targets mTORC1 to the lysosomal surface and is necessary for its activation by amino acids.
We investigated the neuroprotective effect of glial-derived neurotrophic factor (GDNF) upon alcohol-exposed B92 cultures, as well as the role of the cytoskeleton and mitogen-activated protein kinase (MAPK) pathways in this effect.
Title: Glial-derived neurotrophic factor (GDNF) prevents ethanol (EtOH) induced B92 glial cell death by both PI3K/AKT and MEK/ERK signaling pathways.

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Phenotypes

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH103258 (e-PCR)
- UniSTS:97590

RH94142 (e-PCR)
- UniSTS:89430

SHGC-36699 (e-PCR)
- UniSTS:10072

MAP2K1IP1__7369 (e-PCR)
- UniSTS:466294

SHGC-77725 (e-PCR)
- UniSTS:95928

SHGC-54246 (e-PCR)
- UniSTS:8691

SHGC-67358 (e-PCR)
- UniSTS:86525

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to guanyl-nucleotide exchange factor activity	IDA Inferred from Direct Assay more info	PubMed
enables kinase activator activity	IEA Inferred from Electronic Annotation more info
contributes_to molecular adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in TORC1 signaling	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular response to amino acid stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to amino acid stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to amino acid stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of MAPK cascade	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of TOR signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of TOR signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of TORC1 signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to cell junction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of FNIP-folliculin RagC/D GAP	IDA Inferred from Direct Assay more info	PubMed
part_of Ragulator complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Ragulator complex	IDA Inferred from Direct Assay more info	PubMed
part_of Ragulator complex	IPI Inferred from Physical Interaction more info	PubMed
located_in endosome membrane	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in late endosome membrane	NAS Non-traceable Author Statement more info	PubMed
is_active_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	NAS Non-traceable Author Statement more info	PubMed
located_in lysosomal membrane	TAS Traceable Author Statement more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in specific granule membrane	TAS Traceable Author Statement more info
located_in tertiary granule membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: ragulator complex protein LAMTOR3

Names: MAPK scaffold protein 1; MEK binding partner 1; late endosomal/lysosomal adaptor and MAPK and MTOR activator 3; mitogen-activated protein kinase kinase 1 interacting protein 1; mitogen-activated protein kinase scaffold protein 1

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_001243736.1 → NP_001230665.1 ragulator complex protein LAMTOR3 isoform 2

See identical proteins and their annotated locations for NP_001230665.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AL544981, AP001962, BI562630

Consensus CDS

CCDS58920.1

UniProtKB/TrEMBL

Q53FH6

Related

ENSP00000226522.8, ENST00000226522.8

Conserved Domains (1) summary

pfam08923
Location:3 → 114

MAPKK1_Int; Mitogen-activated protein kinase kinase 1 interacting
NM_021970.4 → NP_068805.1 ragulator complex protein LAMTOR3 isoform 1

See identical proteins and their annotated locations for NP_068805.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).

Source sequence(s)

AF201947, AK022313, AP001962, BC026245, DA300823

Consensus CDS

CCDS3652.1

UniProtKB/Swiss-Prot

B2R4A1, J3KMX4, Q9H364, Q9UHA4

UniProtKB/TrEMBL

Q53FH6

Related

ENSP00000424183.1, ENST00000499666.7

Conserved Domains (1) summary

pfam08923
Location:3 → 121

MAPKK1_Int; Mitogen-activated protein kinase kinase 1 interacting

RNA

NR_024170.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon that contains the start codon, compared to variant 1. This variant is represented as non-coding because it lacks an in-frame coding region, compared to variant 1.

Source sequence(s)

AK022313, BC110402, BI562630, DA300823