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    TOMM20L translocase of outer mitochondrial membrane 20 like [ Homo sapiens (human) ]

    Gene ID: 387990, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TOMM20Lprovided by HGNC
    Official Full Name
    translocase of outer mitochondrial membrane 20 likeprovided by HGNC
    Primary source
    HGNC:HGNC:33752
    See related
    Ensembl:ENSG00000196860 AllianceGenome:HGNC:33752
    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
    UNQ9438
    Summary
    Predicted to enable mitochondrion targeting sequence binding activity. Predicted to contribute to protein transmembrane transporter activity. Predicted to be involved in protein import into mitochondrial matrix and tRNA import into mitochondrion. Predicted to be located in mitochondrial outer membrane. Predicted to be part of mitochondrial outer membrane translocase complex. [provided by Alliance of Genome Resources, Nov 2024]
    Annotation information
    Note: July 18, 2008: Although this gene has been referred to as TIMM9, TIMM9 is a distinct locus, located in a head-head orientation to UNQ9438. [18 Jul 2008]
    Expression
    Broad expression in testis (RPKM 4.2), thyroid (RPKM 0.8) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TOMM20L in Genome Data Viewer
    Location:
    14q23.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (58395930..58417080)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (52602950..52624123)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (58862648..58875420)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene PSMA3 antisense RNA 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:58764503-58765226 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5798 Neighboring gene RNA, U6 small nuclear 341, pseudogene Neighboring gene AT-rich interaction domain 4A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8452 Neighboring gene TOMM20L divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5800 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5799 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:58892441-58893384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8453 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8454 Neighboring gene translocase of inner mitochondrial membrane 9 Neighboring gene KIAA0586 Neighboring gene heat shock factor binding protein 1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 13498 Neighboring gene heterogeneous nuclear ribonucleoprotein C pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. Patterns that define the four domains conserved in known and novel isoforms of the protein import receptor Tom20. Likić VA, et al. J Mol Biol, 2005 Mar 18. PMID 15733919
    2. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
    3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
    4. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article
    5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables mitochondrion targeting sequence binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    contributes_to protein transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein import into mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in tRNA import into mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of mitochondrial outer membrane translocase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    TOMM20-like protein 1
    Names
    translocase of outer mitochondrial membrane 20 homolog type I
    translocase of outer mitochondrial membrane 20 homolog-like

    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_207377.3 → NP_997260.1  TOMM20-like protein 1

      See identical proteins and their annotated locations for NP_997260.1

      Status: VALIDATED

      Source sequence(s)
      AL139021, AY358266
      Consensus CDS
      CCDS9734.1
      UniProtKB/Swiss-Prot
      B2RPR0, Q6UXN7
      Related
      ENSP00000354204.2, ENST00000360945.7
      Conserved Domains (1) summary
      pfam02064
      Location:24 → 128
      MAS20; MAS20 protein import receptor

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      58395930..58417080
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536743.3 → XP_011535045.1  TOMM20-like protein 1 isoform X2

      Conserved Domains (1) summary
      pfam02064
      Location:24 → 135
      MAS20; MAS20 protein import receptor

    2. XM_011536742.4 → XP_011535044.1  TOMM20-like protein 1 isoform X1

      Conserved Domains (1) summary
      pfam02064
      Location:24 → 135
      MAS20; MAS20 protein import receptor

    3. XM_011536744.4 → XP_011535046.1  TOMM20-like protein 1 isoform X3

      See identical proteins and their annotated locations for XP_011535046.1

      Conserved Domains (1) summary
      cl03428
      Location:24 → 85
      MAS20; MAS20 protein import receptor

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      52602950..52624123
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376022.1 → XP_054231997.1  TOMM20-like protein 1 isoform X2

    2. XM_054376021.1 → XP_054231996.1  TOMM20-like protein 1 isoform X1

    3. XM_054376023.1 → XP_054231998.1  TOMM20-like protein 1 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UXN7.1 GenPept UniProtKB/Swiss-Prot:Q6UXN7

    Gene LinkOut

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