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    TOMM40L translocase of outer mitochondrial membrane 40 like [ Homo sapiens (human) ]

    Gene ID: 84134, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TOMM40Lprovided by HGNC
    Official Full Name
    translocase of outer mitochondrial membrane 40 likeprovided by HGNC
    Primary source
    HGNC:HGNC:25756
    See related
    Ensembl:ENSG00000158882 AllianceGenome:HGNC:25756
    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
    TOMM40B
    Summary
    Predicted to enable protein transmembrane transporter activity. Predicted to be involved in protein import into mitochondrial matrix. Located in mitochondrion. Part of protein-containing complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in heart (RPKM 9.0), brain (RPKM 7.1) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TOMM40L in Genome Data Viewer
    Location:
    1q23.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (161226060..161230746)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (160363506..160368192)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (161195850..161200536)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:161187006-161187992 Neighboring gene Fc epsilon receptor Ig Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1986 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1987 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1988 Neighboring gene apolipoprotein A2 Neighboring gene microRNA 5187 Neighboring gene nuclear receptor subfamily 1 group I member 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:161228903-161229403 Neighboring gene Purkinje cell protein 4 like 1 Neighboring gene uncharacterized LOC105371472 Neighboring gene uncharacterized LOC107985221

    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. APOEɛ4-TOMM40L Haplotype Increases the Risk of Mild Cognitive Impairment Conversion to Alzheimer's Disease. Cardoso R, et al. J Alzheimers Dis, 2020. PMID 33016906
    2. An atlas of genetic influences on human blood metabolites. Shin SY, et al. Nat Genet, 2014 Jun. PMID 24816252, Free PMC Article
    3. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. Simpson JC, et al. EMBO Rep, 2000 Sep. PMID 11256614, Free PMC Article
    4. The LIFEdb database in 2006. Mehrle A, et al. Nucleic Acids Res, 2006 Jan 1. PMID 16381901, Free PMC Article
    5. From ORFeome to biology: a functional genomics pipeline. Wiemann S, et al. Genome Res, 2004 Oct. PMID 15489336, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. APOEvarepsilon4-TOMM40L Haplotype Increases the Risk of Mild Cognitive Impairment Conversion to Alzheimer's Disease.
      Title: APOEɛ4-TOMM40L Haplotype Increases the Risk of Mild Cognitive Impairment Conversion to Alzheimer's Disease.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog

    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

    • FLJ12770

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables mitochondrion targeting sequence binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables porin activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables preprotein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in monoatomic ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein import into mitochondrial matrix 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
    		  
    located_in mitochondrion HTP PubMed 
    part_of pore complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    mitochondrial import receptor subunit TOM40B
    Names
    protein TOMM40-like
    translocase of outer mitochondrial membrane 40 homolog-like

    NCBI Reference Sequences (RefSeq)

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    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_001286373.2 → NP_001273302.1  mitochondrial import receptor subunit TOM40B isoform 2

      See identical proteins and their annotated locations for NP_001273302.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK297848, AL590714, CA411898
      Consensus CDS
      CCDS65700.1
      UniProtKB/Swiss-Prot
      Q969M1
      Related
      ENSP00000443233.1, ENST00000545897.5
      Conserved Domains (1) summary
      cd07305
      Location:24 → 274
      Porin3_Tom40; Translocase of outer mitochondrial membrane 40 (Tom40)

    2. NM_001286374.2 → NP_001273303.1  mitochondrial import receptor subunit TOM40B isoform 3

      See identical proteins and their annotated locations for NP_001273303.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two in-frmae exons in the central coding region compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AL523459, AL590714, CA411898, DA199234
      Related
      ENST00000474486.5
      Conserved Domains (1) summary
      cd07305
      Location:24 → 243
      Porin3_Tom40; Translocase of outer mitochondrial membrane 40 (Tom40)

    3. NM_032174.6 → NP_115550.2  mitochondrial import receptor subunit TOM40B isoform 1

      See identical proteins and their annotated locations for NP_115550.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK027704, AL590714, CA411898
      Consensus CDS
      CCDS1227.1
      UniProtKB/Swiss-Prot
      B7Z4U0, D3DVG9, Q969M1
      Related
      ENSP00000356967.3, ENST00000367988.8
      Conserved Domains (1) summary
      cd07305
      Location:24 → 308
      Porin3_Tom40; Translocase of outer mitochondrial membrane 40 (Tom40)

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      161226060..161230746
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006711572.3 → XP_006711635.1  mitochondrial import receptor subunit TOM40B isoform X1

      See identical proteins and their annotated locations for XP_006711635.1

      UniProtKB/Swiss-Prot
      B7Z4U0, D3DVG9, Q969M1
      Conserved Domains (1) summary
      cd07305
      Location:24 → 308
      Porin3_Tom40; Translocase of outer mitochondrial membrane 40 (Tom40)

    2. XM_047431897.1 → XP_047287853.1  mitochondrial import receptor subunit TOM40B isoform X2

    3. XM_011510057.3 → XP_011508359.1  mitochondrial import receptor subunit TOM40B isoform X3

      See identical proteins and their annotated locations for XP_011508359.1

      Conserved Domains (1) summary
      cd07305
      Location:24 → 243
      Porin3_Tom40; Translocase of outer mitochondrial membrane 40 (Tom40)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      160363506..160368192
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339082.1 → XP_054195057.1  mitochondrial import receptor subunit TOM40B isoform X1

      UniProtKB/Swiss-Prot
      B7Z4U0, D3DVG9, Q969M1

    2. XM_054339083.1 → XP_054195058.1  mitochondrial import receptor subunit TOM40B isoform X2

    3. XM_054339084.1 → XP_054195059.1  mitochondrial import receptor subunit TOM40B isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q969M1.1 GenPept UniProtKB/Swiss-Prot:Q969M1

    Gene LinkOut

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

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