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

Summary

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

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_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH46962 (e-PCR)
- UniSTS:23139

RH44925 (e-PCR)
- UniSTS:23140

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 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)

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
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
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
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
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
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
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
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

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
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
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
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