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

Gene ID: 389541, updated on 1-Jun-2020

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
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
Expression
Ubiquitous expression in skin (RPKM 36.0), spleen (RPKM 29.2) and 25 other tissues See more
Orthologs

Genomic context

See LAMTOR4 in Genome Data Viewer
Location:
7q22.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (100140177..100154212)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (99746530..99751833)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene TATA-box binding protein associated factor 6 Neighboring gene canopy FGF signaling regulator 4 Neighboring gene metallo-beta-lactamase domain containing 1 Neighboring gene ribosomal protein L7 pseudogene 60 Neighboring gene microtubule associated protein 11 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 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell cycle arrest TAS
Traceable Author Statement
more info
 
cellular response to amino acid stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to amino acid stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of TOR signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of TOR signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization to lysosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell size IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of macroautophagy TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Ragulator complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Ragulator complex IDA
Inferred from Direct Assay
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
lysosomal membrane TAS
Traceable Author Statement
more info
 
lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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, ENST00000341942.9
  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

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_134528.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) 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)
    AA772120, BF978089, BI598677
    Related
    ENST00000468582.5
  4. NR_134529.1 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)
    AA772120, AJ714519, BC063401, BC130553, BF978089
  5. NR_134530.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) uses an alternate 5'-terminal exon and an alternate splice site in the 3'-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)
    AA772120, BC130553, BF978089, DB498044
    Related
    ENST00000488241.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    100140177..100154212
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446761.1XP_024302529.1  ragulator complex protein LAMTOR4 isoform X2

  2. XM_024446760.1XP_024302528.1  ragulator complex protein LAMTOR4 isoform X1

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