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

Gene ID: 387990, updated on 5-Mar-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 integral component of membrane. Predicted to be part of mitochondrial outer membrane translocase complex. Predicted to be integral component of mitochondrial outer membrane. [provided by Alliance of Genome Resources, Apr 2022]
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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (58395930..58417080)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (52602950..52624123)
105.20220307 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
  • 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_2023_10

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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