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    TIMM9 translocase of inner mitochondrial membrane 9 [ Homo sapiens (human) ]

    Gene ID: 26520, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TIMM9provided by HGNC
    Official Full Name
    translocase of inner mitochondrial membrane 9provided by HGNC
    Primary source
    HGNC:HGNC:11819
    See related
    Ensembl:ENSG00000100575 MIM:607384; AllianceGenome:HGNC:11819
    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
    TIM9; TIM9A
    Summary
    TIMM9 belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM, Apr 2004]
    Expression
    Ubiquitous expression in thyroid (RPKM 11.9), ovary (RPKM 11.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TIMM9 in Genome Data Viewer
    Location:
    14q23.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (58408494..58427531, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (52615545..52634567, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (58875212..58894249, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene PSMA3 antisense RNA 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:58764503-58765226 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5798 Neighboring gene RNA, U6 small nuclear 341, pseudogene Neighboring gene AT-rich interaction domain 4A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8452 Neighboring gene TOMM20L divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5800 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5799 Neighboring gene translocase of outer mitochondrial membrane 20 like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:58892441-58893384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8453 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8454 Neighboring gene KIAA0586 Neighboring gene heat shock factor binding protein 1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 13498 Neighboring gene heterogeneous nuclear ribonucleoprotein C pseudogene 1

    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. High expression of mitochondrial intermembrane chaperone TIMM9 represents a negative prognostic marker in gastric cancer. Lin CC, et al. J Formos Med Assoc, 2017 Jun. PMID 27720672
    2. Mitochondria "fuel" breast cancer metabolism: fifteen markers of mitochondrial biogenesis label epithelial cancer cells, but are excluded from adjacent stromal cells. Sotgia F, et al. Cell Cycle, 2012 Dec 1. PMID 23172368, Free PMC Article
    3. Assembly of Tim9 and Tim10 into a functional chaperone. Vial S, et al. J Biol Chem, 2002 Sep 27. PMID 12138093
    4. Role of the deafness dystonia peptide 1 (DDP1) in import of human Tim23 into the inner membrane of mitochondria. Rothbauer U, et al. J Biol Chem, 2001 Oct 5. PMID 11489896
    5. Crystal structure of the mitochondrial chaperone TIM9.10 reveals a six-bladed alpha-propeller. Webb CT, et al. Mol Cell, 2006 Jan 6. PMID 16387659

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. in gastric cancer patients, a borderline association was found between overexpression of TIMM9 and vascular invasion; patients with high expression levels of TIMM9 achieved a significantly lower disease-free survival rate compared with those with low expression levels
      Title: High expression of mitochondrial intermembrane chaperone TIMM9 represents a negative prognostic marker in gastric cancer.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    3. The crystal structure of TIM9.10 described here reveals a previously undescribed alpha-propeller topology in which helical "blades" radiate from a narrow central pore lined with polar residues.
      Title: Crystal structure of the mitochondrial chaperone TIM9.10 reveals a six-bladed alpha-propeller.
    4. in contrast to yeast, only a small fraction of Tim9-Tim10a-Tim10b complex is in a stable association with Tim22
      Title: Organization and function of the small Tim complexes acting along the import pathway of metabolite carriers into mammalian mitochondria.
    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)

    Pathways from PubChem

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    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 membrane insertase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-folding chaperone binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein insertion into mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein insertion into mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in protein insertion into mitochondrial inner membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in protein targeting to mitochondrion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in sensory perception of sound TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of TIM22 mitochondrial import inner membrane insertion complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrial intermembrane space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial intermembrane space NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial intermembrane space TAS
    Traceable Author Statement
    more info
    		 PubMed 
    part_of mitochondrial intermembrane space protein transporter complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of mitochondrial intermembrane space protein transporter complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of mitochondrial intermembrane space protein transporter complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    mitochondrial import inner membrane translocase subunit Tim9
    Names
    translocase of inner mitochondrial membrane 9 homolog

    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_001304485.2 → NP_001291414.1  mitochondrial import inner membrane translocase subunit Tim9 isoform a

      See identical proteins and their annotated locations for NP_001291414.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 through 4 encode the same isoform (a).
      Source sequence(s)
      AA889245, AL139021, BC020213, BF034731, DA530575
      Consensus CDS
      CCDS9735.1
      UniProtKB/Swiss-Prot
      B2R584, Q9Y5J7
      Conserved Domains (1) summary
      pfam02953
      Location:10 → 67
      zf-Tim10_DDP; Tim10/DDP family zinc finger

    2. NM_001304486.1 → NP_001291415.1  mitochondrial import inner membrane translocase subunit Tim9 isoform a

      See identical proteins and their annotated locations for NP_001291415.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 through 4 encode the same isoform (a).
      Source sequence(s)
      AA889245, AK312095, AL139021, BC020213
      Consensus CDS
      CCDS9735.1
      UniProtKB/Swiss-Prot
      B2R584, Q9Y5J7
      Related
      ENSP00000451198.1, ENST00000555404.5
      Conserved Domains (1) summary
      pfam02953
      Location:10 → 67
      zf-Tim10_DDP; Tim10/DDP family zinc finger

    3. NM_001304487.2 → NP_001291416.1  mitochondrial import inner membrane translocase subunit Tim9 isoform a

      See identical proteins and their annotated locations for NP_001291416.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 through 4 encode the same isoform (a).
      Source sequence(s)
      AL139021, BC054875, DA530575
      Consensus CDS
      CCDS9735.1
      UniProtKB/Swiss-Prot
      B2R584, Q9Y5J7
      Related
      ENSP00000451006.1, ENST00000555593.5
      Conserved Domains (1) summary
      pfam02953
      Location:10 → 67
      zf-Tim10_DDP; Tim10/DDP family zinc finger

    4. NM_001304488.1 → NP_001291417.1  mitochondrial import inner membrane translocase subunit Tim9 isoform b

      See identical proteins and their annotated locations for NP_001291417.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AA889245, AL139021, BC020213, BG249379
      Consensus CDS
      CCDS76685.1
      UniProtKB/TrEMBL
      G3V502
      Related
      ENSP00000452091.1, ENST00000556007.6
      Conserved Domains (1) summary
      pfam02953
      Location:10 → 46
      zf-Tim10_DDP; Tim10/DDP family zinc finger

    5. NM_001304489.1 → NP_001291418.1  mitochondrial import inner membrane translocase subunit Tim9 isoform c

      See identical proteins and their annotated locations for NP_001291418.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
      Source sequence(s)
      AA889245, AL139021, BC020213, W74224
      Consensus CDS
      CCDS86394.1
      UniProtKB/TrEMBL
      A0A1W2PQS5
      Related
      ENSP00000492122.1, ENST00000555930.6
      Conserved Domains (1) summary
      pfam02953
      Location:10 → 47
      zf-Tim10_DDP; Tim10/DDP family zinc finger

    6. NM_001304490.1 → NP_001291419.1  mitochondrial import inner membrane translocase subunit Tim9 isoform d

      See identical proteins and their annotated locations for NP_001291419.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (d) is shorter than isoform a. Variants 7 and 8 encode the same isoform.
      Source sequence(s)
      AA889245, AL139021, BC020213, DN912572
      Consensus CDS
      CCDS86393.1
      UniProtKB/TrEMBL
      A0A1W2PRH9
      Related
      ENSP00000492665.1, ENST00000556367.6
      Conserved Domains (1) summary
      pfam02953
      Location:10 → 46
      zf-Tim10_DDP; Tim10/DDP family zinc finger

    7. NM_001304491.1 → NP_001291420.1  mitochondrial import inner membrane translocase subunit Tim9 isoform d

      See identical proteins and their annotated locations for NP_001291420.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) differs in the 5'UTR, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (d) is shorter than isoform a. Variants 7 and 8 encode the same isoform.
      Source sequence(s)
      AA889245, AL139021, BC020213, HY041857
      Consensus CDS
      CCDS86393.1
      UniProtKB/TrEMBL
      A0A1W2PRH9
      Conserved Domains (1) summary
      pfam02953
      Location:10 → 46
      zf-Tim10_DDP; Tim10/DDP family zinc finger

    8. NM_012460.4 → NP_036592.1  mitochondrial import inner membrane translocase subunit Tim9 isoform a

      See identical proteins and their annotated locations for NP_036592.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1 through 4 encode the same isoform.
      Source sequence(s)
      AL139021, BC020213, DA530575
      Consensus CDS
      CCDS9735.1
      UniProtKB/Swiss-Prot
      B2R584, Q9Y5J7
      Related
      ENSP00000378588.2, ENST00000395159.7
      Conserved Domains (1) summary
      pfam02953
      Location:10 → 67
      zf-Tim10_DDP; Tim10/DDP family zinc finger

    RNA

    1. NR_130750.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AA889245, AL139021, BC020213, BM811095, DA530575
      Related
      ENST00000216463.8

    2. NR_130751.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10) lacks an alternate internal exon, and uses an alternate splice site in the 3' terminal exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AA889245, AL139021, BC020213, HY096567

    3. NR_130752.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (11) lacks two alternate internal exons, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AA889245, AL139021, BC020213, DB110327

    4. NR_130753.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (12) lacks two alternate internal exons, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AA889245, AL139021, BC020213, HY139570

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      58408494..58427531 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431264.1 → XP_047287220.1  mitochondrial import inner membrane translocase subunit Tim9 isoform X1

      UniProtKB/Swiss-Prot
      B2R584, Q9Y5J7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      52615545..52634567 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375853.1 → XP_054231828.1  mitochondrial import inner membrane translocase subunit Tim9 isoform X1

      UniProtKB/Swiss-Prot
      B2R584, Q9Y5J7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y5J7.1 GenPept UniProtKB/Swiss-Prot:Q9Y5J7

    Gene LinkOut

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

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