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

Gene ID: 84134, updated on 4-Jan-2025

Summary

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, Jan 2025]
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

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

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Interactions

General gene information

Clone Names

  • FLJ12770

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables mitochondrion targeting sequence binding  
enables molecular_function  
enables porin activity  
enables preprotein binding  
enables protein transmembrane transporter activity  
Process Evidence Code Pubs
involved_in biological_process  
involved_in monoatomic ion transport  
involved_in protein import into mitochondrial matrix  
Component Evidence Code Pubs
part_of mitochondrial outer membrane translocase complex  
located_in mitochondrion PubMed 
part_of pore complex  
part_of protein-containing complex  

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001286373.2NP_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:24274
    Porin3_Tom40; Translocase of outer mitochondrial membrane 40 (Tom40)
  2. NM_001286374.2NP_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:24243
    Porin3_Tom40; Translocase of outer mitochondrial membrane 40 (Tom40)
  3. NM_032174.6NP_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:24308
    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_006711572.3XP_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:24308
    Porin3_Tom40; Translocase of outer mitochondrial membrane 40 (Tom40)
  2. XM_047431897.1XP_047287853.1  mitochondrial import receptor subunit TOM40B isoform X2

  3. XM_011510057.3XP_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:24243
    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_054339082.1XP_054195057.1  mitochondrial import receptor subunit TOM40B isoform X1

    UniProtKB/Swiss-Prot
    B7Z4U0, D3DVG9, Q969M1
  2. XM_054339083.1XP_054195058.1  mitochondrial import receptor subunit TOM40B isoform X2

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

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