TIMM13 translocase of inner mitochondrial membrane 13 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TIMM13provided by HGNC
Official Full Name: translocase of inner mitochondrial membrane 13provided by HGNC
Primary source: HGNC:HGNC:11816
See related: Ensembl:ENSG00000099800 MIM:607383; AllianceGenome:HGNC:11816
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ppv1; TIM13; TIM13B; TIMM13A; TIMM13B
Summary: This gene encodes a member of the evolutionarily conserved TIMM (translocase of inner mitochondrial membrane) family of proteins that function as chaperones in the import of proteins from the cytoplasm into the mitochondrial inner membrane. Proteins of this family play a role in collecting substrate proteins from the translocase of the outer mitochondrial membrane (TOM) complex and delivering them to either the sorting and assembly machinery in the outer mitochondrial membrane (SAM) complex or the TIMM22 complex in the inner mitochondrial membrane. The encoded protein and the translocase of mitochondrial inner membrane 8a protein form a 70 kDa complex in the intermembrane space. [provided by RefSeq, Jul 2013]
Expression: Ubiquitous expression in kidney (RPKM 14.4), colon (RPKM 14.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (2425625..2427586, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (2401416..2403377, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (2425623..2427584, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

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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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope transmembrane glycoprotein gp41	env	HIV-1 gp41 is identified to have a physical interaction with translocase of inner mitochondrial membrane 13 homolog (TIMM13) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

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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

PMC291826P2 (e-PCR)
- UniSTS:272434

RH16547 (e-PCR)
- UniSTS:6748

SHGC-33038 (e-PCR)
- UniSTS:33723

RH45373 (e-PCR)
- UniSTS:37105

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein 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	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein insertion into mitochondrial inner membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein insertion into mitochondrial inner membrane	NAS Non-traceable Author Statement more info	PubMed
involved_in protein insertion into mitochondrial inner membrane	TAS 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
located_in fibrillar center	IDA Inferred from Direct Assay more info
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial intermembrane space	NAS Non-traceable Author Statement more info	PubMed
part_of mitochondrial intermembrane space protein transporter complex	IBA Inferred from Biological aspect of Ancestor more info
part_of mitochondrial intermembrane space protein transporter complex	IPI Inferred from Physical Interaction more info	PubMed
part_of mitochondrial intermembrane space protein transporter complex	ISS Inferred from Sequence or Structural Similarity more info
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 Tim13

Names: mitochondrial import inner membrane translocase subunit Tim13B; translocase of inner mitochondrial membrane 13 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.