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

Gene ID: 26520, updated on 5-Mar-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
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Genomic context

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Location:
14q23.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (58408494..58427531, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (52615545..52634567, complement)
105.20220307 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. Cryo-EM structure of the human mitochondrial translocase TIM22 complex. Qi L, et al. Cell Res, 2021 Mar. PMID 32901109, Free PMC Article

See all (36) 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)

Genotypes

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 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_2023_10

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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