TIMM29 translocase of inner mitochondrial membrane 29 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TIMM29provided by HGNC
Official Full Name: translocase of inner mitochondrial membrane 29provided by HGNC
Primary source: HGNC:HGNC:25152
See related: Ensembl:ENSG00000142444 MIM:617380; AllianceGenome:HGNC:25152
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: TIM29; C19orf52
Summary: Enables protein transporter activity. Involved in protein insertion into mitochondrial inner membrane. Located in mitochondrial inner membrane and mitochondrial intermembrane space. Part of TIM22 mitochondrial import inner membrane insertion complex. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in kidney (RPKM 4.3), testis (RPKM 4.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (10928811..10930254)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (11055822..11057265)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (11039487..11040930)

Chromosome 19 - NC_000019.10 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?

TIM22 and TIM29 inhibit HBV replication by up-regulating SRSF1 expression.
Title: TIM22 and TIM29 inhibit HBV replication by up-regulating SRSF1 expression.
Defining the architecture of the human TIM22 complex by chemical crosslinking.
Title: Defining the architecture of the human TIM22 complex by chemical crosslinking.
TIMM29 interacts with hepatitis B virus preS1 to modulate the HBV life cycle.
Title: TIMM29 interacts with hepatitis B virus preS1 to modulate the HBV life cycle.
Here, the authors identify Tim29 (C19orf52) as a novel, metazoan-specific subunit of the human TIM22 complex. The protein is integrated into the mitochondrial inner membrane with it's C-terminus exposed to the intermembrane space.
Title: Tim29 is a novel subunit of the human TIM22 translocase and is involved in complex assembly and stability.
TIM29 is required for the structural integrity of the TIM22 complex and for import of substrate proteins by the carrier translocase
Title: TIM29 is a subunit of the human carrier translocase required for protein transport.

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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

G09492 (e-PCR)
- UniSTS:55339

RH120724 (e-PCR)
- UniSTS:132805

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in protein insertion into mitochondrial inner membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein insertion into mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in protein insertion into mitochondrial inner membrane	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of TIM22 mitochondrial import inner membrane insertion complex	IBA Inferred from Biological aspect of Ancestor more info
part_of TIM22 mitochondrial import inner membrane insertion complex	IDA Inferred from Direct Assay more info	PubMed
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 intermembrane space	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed

General protein information

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Preferred Names: mitochondrial import inner membrane translocase subunit Tim29

Names: uncharacterized protein C19orf52

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_138358.4 → NP_612367.1 mitochondrial import inner membrane translocase subunit Tim29

See identical proteins and their annotated locations for NP_612367.1

Status: VALIDATED

Source sequence(s)

AC011442

Consensus CDS

CCDS12252.1

UniProtKB/Swiss-Prot

Q96EY6, Q96IT8, Q9BSF4

Related

ENSP00000270502.5, ENST00000270502.7

Conserved Domains (1) summary

pfam10171
Location:24 → 186

Tim29; Translocase of the Inner Mitochondrial membrane 29