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    MCTS1 MCTS1 re-initiation and release factor [ Homo sapiens (human) ]

    Gene ID: 28985, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MCTS1provided by HGNC
    Official Full Name
    MCTS1 re-initiation and release factorprovided by HGNC
    Primary source
    HGNC:HGNC:23357
    See related
    Ensembl:ENSG00000232119 MIM:300587; AllianceGenome:HGNC:23357
    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
    MCT1; MCT-1; IMD118
    Summary
    Enables RNA cap binding activity; ribosomal small subunit binding activity; and translation factor activity, non-nucleic acid binding. Involved in IRES-dependent viral translational initiation; cytoplasmic translational initiation; and ribosome disassembly. Is active in cytoplasm. Implicated in primary immunodeficiency disease. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 3.6), brain (RPKM 3.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MCTS1 in Genome Data Viewer
    Location:
    Xq24
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (120604101..120621159)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (118979555..118996612)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (119737956..119755014)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene cullin 4B Neighboring gene small nucleolar RNA U13 Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:119683276-119684475 Neighboring gene H3K27ac hESC enhancers GRCh37_chrX:119693886-119694771 and GRCh37_chrX:119694772-119695656 Neighboring gene uncharacterized LOC124905210 Neighboring gene uncharacterized LOC124905296 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:119763290-119764217 Neighboring gene C1GALT1 specific chaperone 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29904 Neighboring gene H3 histone pseudogene 46

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Regulation of monocarboxylate transporter 1 in skeletal muscle cells by intracellular signaling pathways. Narumi K, et al. Biol Pharm Bull, 2010. PMID 20823576
    2. Prognostic value of malignant T cell-amplified sequence 1 in head and neck squamous cell carcinoma. Zhu J, et al. Biomark Med, 2021 Dec. PMID 34704820
    3. MCT1 expression is independently related to shorter cancer-specific survival in clear cell renal cell carcinoma. de Carvalho PA, et al. Carcinogenesis, 2021 Dec 31. PMID 34668521
    4. MCTS1 promotes laryngeal squamous cell carcinoma cell growth via enhancing LARP7 stability. Yang M, et al. Clin Exp Pharmacol Physiol, 2022 Jun. PMID 35274760
    5. PKC inhibition of sotrastaurin has antitumor activity in diffuse large B-cell lymphoma via regulating the expression of MCT-1. Chang G, et al. Acta Biochim Biophys Sin (Shanghai), 2018 Apr 1. PMID 29534146

    See all (75) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Human MCTS1-dependent translation of JAK2 is essential for IFN-gamma immunity to mycobacteria.
      Title: Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteria.
    2. MCTS1 enhances the proliferation of laryngeal squamous cell carcinoma via promoting OTUD6B-1 mediated LIN28B deubiquitination.
      Title: MCTS1 enhances the proliferation of laryngeal squamous cell carcinoma via promoting OTUD6B-1 mediated LIN28B deubiquitination.
    3. MCTS1 promotes laryngeal squamous cell carcinoma cell growth via enhancing LARP7 stability.
      Title: MCTS1 promotes laryngeal squamous cell carcinoma cell growth via enhancing LARP7 stability.
    4. Prognostic value of malignant T cell-amplified sequence 1 in head and neck squamous cell carcinoma.
      Title: Prognostic value of malignant T cell-amplified sequence 1 in head and neck squamous cell carcinoma.
    5. MCT1 expression is independently related to shorter cancer-specific survival in clear cell renal cell carcinoma.
      Title: MCT1 expression is independently related to shorter cancer-specific survival in clear cell renal cell carcinoma.
    6. These results suggest MCT-1/miR-34a/IL-6/IL-6R axis is responsible for MCT-1-mediated effects on non-small cell lung cance cell stemness.
      Title: Multiple Copies in T-Cell Malignancy 1 (MCT-1) Promotes the Stemness of Non-Small Cell Lung Cancer Cells via Activating Interleukin-6 (IL-6) Signaling through Suppressing MiR-34a Expression.
    7. High MCT-1 expression is associated with M2-like polarization and triple-negative breast cancer cell invasion.
      Title: MCT-1/miR-34a/IL-6/IL-6R signaling axis promotes EMT progression, cancer stemness and M2 macrophage polarization in triple-negative breast cancer.
    8. Present the crystal structure of MCTS1 bound to a fragment of DENR. Based on this structure, we identify and experimentally validate that DENR residues Glu42, Tyr43, and Tyr46 are important for MCTS1 binding and that MCTS1 residue Phe104 is important for tRNA binding. Mutation of these residues reveals that DENR-MCTS1 dimerization and tRNA binding are both necessary for DENR and MCTS1 to promote translation reinitiation.
      Title: DENR-MCTS1 heterodimerization and tRNA recruitment are required for translation reinitiation.
    9. findings elucidate further the mechanism of regulation of DENR-MCT-1 activities in unconventional translation initiation, reinitiation, and recycling.
      Title: Crystal structure of the DENR-MCT-1 complex revealed zinc-binding site essential for heterodimer formation.
    10. PKC inhibitor sotrastaurin induced cell apoptosis and cell cycle arrest in DLBCL cells potentially through regulating the expression of MCT-1
      Title: PKC inhibition of sotrastaurin has antitumor activity in diffuse large B-cell lymphoma via regulating the expression of MCT-1.
    Submit: New GeneRIF Correction See all GeneRIFs (23)

    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

    Associated conditions

    Description Tests
    Immunodeficiency 118
    MedGen: C5882665 OMIM: 301115 GeneReviews: Not available
    		not available

    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

    Homology

    Clone Names

    • FLJ39637

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA cap binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ribosomal small subunit binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables translation factor activity, non-nucleic acid binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables translation initiation factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA damage response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in IRES-dependent viral translational initiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in formation of translation preinitiation complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in formation of translation preinitiation complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of translation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ribosome disassembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ribosome disassembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in translation reinitiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    malignant T-cell-amplified sequence 1
    Names
    malignant T-cell amplified sequence 1
    multiple copies T-cell malignancies
    multiple copies in T-cell lymphoma-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)

    1. NM_001137554.2 → NP_001131026.1  malignant T-cell-amplified sequence 1 isoform 2

      See identical proteins and their annotated locations for NP_001131026.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) is longer and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AA375691, AC011890, AK294834, AW957695, BM671542
      Consensus CDS
      CCDS48160.1
      UniProtKB/Swiss-Prot
      Q9ULC4
      Related
      ENSP00000360365.3, ENST00000371315.3
      Conserved Domains (2) summary
      cd11609
      Location:5 → 81
      MCT1_N; N-terminal domain of multiple copies T cell malignancies 1 and related proteins
      cd21155
      Location:81 → 176
      PUA_MCTS-1-like; PUA RNA-binding domain of malignant T cell-amplified sequence 1 and related proteins

    2. NM_014060.3 → NP_054779.1  malignant T-cell-amplified sequence 1 isoform 1

      See identical proteins and their annotated locations for NP_054779.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the shorter isoform (1).
      Source sequence(s)
      AC011890, BC001013, BM671542, BP226595
      Consensus CDS
      CCDS14601.1
      UniProtKB/Swiss-Prot
      B4DGY2, Q502X6, Q9ULC4
      Related
      ENSP00000360367.5, ENST00000371317.10
      Conserved Domains (2) summary
      cd11609
      Location:4 → 80
      MCT1_N; N-terminal domain of multiple copies T cell malignancies 1 and related proteins
      cd21155
      Location:80 → 175
      PUA_MCTS-1-like; PUA RNA-binding domain of malignant T cell-amplified sequence 1 and related proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      120604101..120621159
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160027.1 Reference GRCh38.p14 PATCHES

      Range
      4169..21227
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      118979555..118996612
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9ULC4.1 GenPept UniProtKB/Swiss-Prot:Q9ULC4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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