U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LAMTOR4 late endosomal/lysosomal adaptor, MAPK and MTOR activator 4 [ Homo sapiens (human) ]

Gene ID: 389541, updated on 3-Jul-2022

Summary

Official Symbol
LAMTOR4provided by HGNC
Official Full Name
late endosomal/lysosomal adaptor, MAPK and MTOR activator 4provided by HGNC
Primary source
HGNC:HGNC:33772
See related
Ensembl:ENSG00000188186 MIM:618834; AllianceGenome:HGNC:33772
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
C7orf59
Summary
Contributes to guanyl-nucleotide exchange factor activity and molecular adaptor activity. Involved in several processes, including cellular response to amino acid stimulus; positive regulation of TOR signaling; and protein localization to lysosome. Located in lysosome. Part of Ragulator complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in skin (RPKM 36.0), spleen (RPKM 29.2) and 25 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See LAMTOR4 in Genome Data Viewer
Location:
7q22.1
Exon count:
5
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (100148918..100154203)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (101388711..101393996)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (99746541..99751826)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene TATA-box binding protein associated factor 6 Neighboring gene metallo-beta-lactamase domain containing 1 Neighboring gene ribosomal protein L7 pseudogene 60 Neighboring gene trafficking protein particle complex subunit 14 Neighboring gene microRNA 4658 Neighboring gene galactose-3-O-sulfotransferase 4

Genomic regions, transcripts, and products

Expression

  • 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC163425, MGC163431

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to molecular adaptor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
part_of Ragulator complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in late endosome membrane IC
Inferred by Curator
more info
PubMed 
located_in lysosomal membrane IC
Inferred by Curator
more info
PubMed 
located_in lysosomal membrane TAS
Traceable Author Statement
more info
 
is_active_in lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in lysosome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ragulator complex protein LAMTOR4
Names
UPF0539 protein C7orf59
late endosomal/lysosomal adaptor and MAPK and MTOR activator 4

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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)

  1. NM_001008395.4NP_001008396.1  ragulator complex protein LAMTOR4 isoform 1

    See identical proteins and their annotated locations for NP_001008396.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    BI598677, CU450474
    Consensus CDS
    CCDS34702.1
    UniProtKB/Swiss-Prot
    Q0VGL1
    Related
    ENSP00000343118.5, ENST00000341942.10
  2. NM_001318236.2NP_001305165.1  ragulator complex protein LAMTOR4 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which introduces a frameshift compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AA772120, BG706819, CU450474
    Consensus CDS
    CCDS83210.1
    UniProtKB/TrEMBL
    A0A087WV46
    Related
    ENSP00000479176.1, ENST00000460732.5
  3. NM_001318237.2NP_001305166.1  ragulator complex protein LAMTOR4 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    BI771662, CU450474
    Consensus CDS
    CCDS83211.1
    UniProtKB/TrEMBL
    A0A087WT92
    Related
    ENSP00000477680.1, ENST00000474141.5
  4. NM_001394587.1NP_001381516.1  ragulator complex protein LAMTOR4 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC073842
  5. NM_001394588.1NP_001381517.1  ragulator complex protein LAMTOR4 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC073842
  6. NM_001394589.1NP_001381518.1  ragulator complex protein LAMTOR4 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC073842

RNA

  1. NR_134526.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in a 5' exon compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AA772120, CU450474, DB539334
    Related
    ENST00000474831.5
  2. NR_134527.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AA419348, BC063401, BG819624, CU450474
  3. NR_134529.3 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) uses an alternate 5'-terminal exon compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AC073842
    Related
    ENST00000468582.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    100148918..100154203
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    101388711..101393996
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)