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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
    mouse all
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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

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

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