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TIMM17B translocase of inner mitochondrial membrane 17B [ Homo sapiens (human) ]

Gene ID: 10245, updated on 13-Apr-2024

Summary

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Official Symbol
TIMM17Bprovided by HGNC
Official Full Name
translocase of inner mitochondrial membrane 17Bprovided by HGNC
Primary source
HGNC:HGNC:17310
See related
Ensembl:ENSG00000126768 MIM:300249; AllianceGenome:HGNC:17310
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
JM3; TIM17B; DXS9822
Summary
This gene encodes a multipass transmembrane protein that forms an integral component of the mitochondrial translocase TIM23 complex. This complex facilitates the transport of mitochondrial proteins from the cytosol across the mitochondrial inner membrane and into the mitochondrion. There is a pseudogene for this gene on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Expression
Ubiquitous expression in heart (RPKM 15.4), prostate (RPKM 13.6) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
Xp11.23
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (48893447..48898143, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (48303928..48308624, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48750730..48755426, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:48689342-48689842 Neighboring gene ES cell expressed Ras Neighboring gene proprotein convertase subtilisin/kexin type 1 inhibitor Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:48726714-48727913 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20824 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29614 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29615 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29617 Neighboring gene polyglutamine binding protein 1 Neighboring gene solute carrier family 35 member A2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29618 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29620 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20826 Neighboring gene Pim-2 proto-oncogene, serine/threonine kinase

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. The type III system-secreted effector EspZ localizes to host mitochondria and interacts with the translocase of inner mitochondrial membrane 17b. Shames SR, et al. Infect Immun, 2011 Dec. PMID 21947777, Free PMC Article
  2. The preprotein translocase of the mitochondrial inner membrane: function and evolution. Rassow J, et al. J Mol Biol, 1999 Feb 12. PMID 9931253
  3. Methylation-controlled J-protein MCJ acts in the import of proteins into human mitochondria. Schusdziarra C, et al. Hum Mol Genet, 2013 Apr 1. PMID 23263864
  4. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Tarpey PS, et al. Nat Genet, 2009 May. PMID 19377476, Free PMC Article
  5. Genetic and structural characterization of the human mitochondrial inner membrane translocase. Bauer MF, et al. J Mol Biol, 1999 May 28. PMID 10339406

See all (35) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The findings of this study together provide the first evidence that EspZ localizes to host mitochondria and that TIM17b contributes to protection against rapid cell death during EPEC infection.
    Title: The type III system-secreted effector EspZ localizes to host mitochondria and interacts with the translocase of inner mitochondrial membrane 17b.
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

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

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of translocase of inner mitochondrial membrane 17 homolog B (TIMM17B) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

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 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 NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in protein import into mitochondrial matrix IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein targeting to mitochondrion TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of TIM23 mitochondrial import inner membrane translocase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of TIM23 mitochondrial import inner membrane translocase complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of TIM23 mitochondrial import inner membrane translocase complex NAS
Non-traceable Author Statement
more info
 PubMed 
located_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial inner membrane NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
mitochondrial import inner membrane translocase subunit Tim17-B
Names
inner mitochondrial membrane preprotein translocase
translocase of inner mitochondrial membrane 17 homolog B

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.

Genomic

  1. NG_015968.2 RefSeqGene

    Range
    5382..9701
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001167947.2 → NP_001161419.1  mitochondrial import inner membrane translocase subunit Tim17-B isoform 1

    See identical proteins and their annotated locations for NP_001161419.1

    Status: REVIEWED

    Source sequence(s)
    AF034790, AJ005895, CA421979, CB993524
    Consensus CDS
    CCDS55411.1
    UniProtKB/TrEMBL
    A0A8Q3SIA0
    Related
    ENSP00000379999.3, ENST00000396779.7
    Conserved Domains (1) summary
    cl02381
    Location:1 → 221
    Tim17; Tim17/Tim22/Tim23/Pmp24 family

  2. NM_001395497.1 → NP_001382426.1  mitochondrial import inner membrane translocase subunit Tim17-B isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC233300
    Consensus CDS
    CCDS55411.1
    UniProtKB/TrEMBL
    A0A8Q3SIA0
    Related
    ENSP00000477073.1, ENST00000465150.6
    Conserved Domains (1) summary
    cl02381
    Location:1 → 221
    Tim17; Tim17/Tim22/Tim23/Pmp24 family

  3. NM_001395498.1 → NP_001382427.1  mitochondrial import inner membrane translocase subunit Tim17-B isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC233300
    Consensus CDS
    CCDS14308.1
    UniProtKB/Swiss-Prot
    A8K2E2, J3KPV3, O60830, Q9UJV0
    UniProtKB/TrEMBL
    A0A8Q3SIA0
    Related
    ENSP00000512416.1, ENST00000696123.1
    Conserved Domains (1) summary
    cl02381
    Location:1 → 171
    Tim17; Tim17/Tim22/Tim23/Pmp24 family

  4. NM_005834.5 → NP_005825.1  mitochondrial import inner membrane translocase subunit Tim17-B isoform 2

    See identical proteins and their annotated locations for NP_005825.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2, also known as hTim17b) is shorter than isoform 1.
    Source sequence(s)
    AF034790, AJ005895
    Consensus CDS
    CCDS14308.1
    UniProtKB/Swiss-Prot
    A8K2E2, J3KPV3, O60830, Q9UJV0
    UniProtKB/TrEMBL
    A0A8Q3SIA0
    Related
    ENSP00000365766.3, ENST00000376582.7
    Conserved Domains (1) summary
    cl02381
    Location:1 → 171
    Tim17; Tim17/Tim22/Tim23/Pmp24 family

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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    48893447..48898143 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791820.1 Reference GRCh38.p14 PATCHES

    Range
    52282..56978 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    48303928..48308624 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O60830.1 GenPept UniProtKB/Swiss-Prot:O60830

Gene LinkOut

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