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

Gene ID: 84134, updated on 5-Mar-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. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in heart (RPKM 9.0), brain (RPKM 7.1) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
1q23.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (161226060..161230746)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (160363506..160368192)
105.20220307 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

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. 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 (19) 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)

Genotypes

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
  
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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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_2023_10

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

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