TIMM17A translocase of inner mitochondrial membrane 17A [Homo sapiens (human)] - Gene

Summary

Official Symbol: TIMM17Aprovided by HGNC
Official Full Name: translocase of inner mitochondrial membrane 17Aprovided by HGNC
Primary source: HGNC:HGNC:17315
See related: Ensembl:ENSG00000134375 MIM:605057; AllianceGenome:HGNC:17315
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: TIM17; TIM17A
Summary: Predicted to contribute to protein transmembrane transporter activity. Predicted to be involved in protein import into mitochondrial matrix. Located in mitochondrial inner membrane and nucleoplasm. Is integral component of mitochondrial inner membrane. Part of TIM23 mitochondrial import inner membrane translocase complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in adrenal (RPKM 27.6), heart (RPKM 27.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q32.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (201955503..201970664)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (201213194..201228387)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (201924631..201939792)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Central role of Tim17 in mitochondrial presequence protein translocation.
Title: Central role of Tim17 in mitochondrial presequence protein translocation.
Tim17 Updates: A Comprehensive Review of an Ancient Mitochondrial Protein Translocator.
Title: Tim17 Updates: A Comprehensive Review of an Ancient Mitochondrial Protein Translocator.
We also confirmed that lncRNA NEAT1 was up-regulated in breast cancer and inhibited the expression of miR-133b, and identified the mitochondrial protein translocase of inner mitochondrial membrane 17 homolog A (TIMM17A) that serves as the target of miR-133b.
Title: LncRNA NEAT1 Silenced miR-133b Promotes Migration and Invasion of Breast Cancer Cells.
TIMM17A has a profound impact on the cellular function of breast cancer cells. A decrease of TIMM17A expression is associated with the reduction of the aggressiveness of breast cancer cells.
Title: The Impact of TIMM17A on Aggressiveness of Human Breast Cancer Cells.
High TIMM17A expression is associated with adverse pathological outcomes in breast cancer.
Title: High TIMM17A expression is associated with adverse pathological and clinical outcomes in human breast cancer.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
mRNA expression analysis and immunohistochemistry analysis in breast cancer tissues indicated that expression level of TIMM17A was directly correlated with tumor progression; survival analysis suggested TIMM17A was a prognosis factor in breast cancer.
Title: Quantitative proteomics study of breast cancer cell lines isolated from a single patient: discovery of TIMM17A as a marker for breast cancer.
Tim17 is a conserved suppressor of mtDNA instability.
Title: The conserved translocase Tim17 prevents mitochondrial DNA loss.

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH67823 (e-PCR)
- UniSTS:2065

SHGC-76127 (e-PCR)
- UniSTS:8986

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-76129 (e-PCR)
- UniSTS:30308

D7S3207 (e-PCR)
- UniSTS:229489

D1S1423 (e-PCR)
- UniSTS:149619

D1S1425 (e-PCR)
- UniSTS:149621

G29200 (e-PCR)
- UniSTS:66168

D11S3114 (e-PCR)
- UniSTS:152207

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: mitochondrial import inner membrane translocase subunit Tim17-A

Names: inner membrane preprotein translocase Tim17a; mitochondrial inner membrane translocase; preprotein translocase; translocase of inner mitochondrial membrane 17 homolog A

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.