Timm8a1 translocase of inner mitochondrial membrane 8A1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Timm8a1provided by MGI
Official Full Name: translocase of inner mitochondrial membrane 8A1provided by MGI
Primary source: MGI:MGI:1353433
See related: Ensembl:ENSMUSG00000048007 AllianceGenome:MGI:1353433
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ddp1; Tim8a; Fci-12; Timm8a; DXHXS1274E
Summary: Predicted to enable identical protein binding activity and zinc ion binding activity. Predicted to be involved in protein targeting to mitochondrion. Predicted to act upstream of or within protein transport. Located in mitochondrion. Is expressed in cap mesenchyme; early tubule; lung mesenchyme; and renal interstitium. Human ortholog(s) of this gene implicated in deafness-dystonia-optic neuronopathy syndrome and dystonia. Orthologous to human TIMM8A (translocase of inner mitochondrial membrane 8A). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in liver E14 (RPKM 23.0), liver E18 (RPKM 20.3) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: X E3; X 56.18 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (133438005..133442419, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (134537256..134541670, complement)

Chromosome X - NC_000086.8 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Frameshift mutation of Timm8a1 gene in mouse leads to an abnormal mitochondrial structure in the brain, correlating with hearing and memory impairment.
Title: Frameshift mutation of Timm8a1 gene in mouse leads to an abnormal mitochondrial structure in the brain, correlating with hearing and memory impairment.
Human deafness dystonia syndrome is caused by a defect in assembly of this protein complex. The defect is caused by a point mutation (a missense mutation).
Title: Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables zinc ion binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in protein targeting to mitochondrion	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial intermembrane space	ISO Inferred from Sequence Orthology more info
part_of mitochondrial intermembrane space protein transporter complex	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: mitochondrial import inner membrane translocase subunit Tim8 A

Names: deafness dystonia protein 1 homolog; translocase of inner mitochondrial membrane 8 homolog a; translocase of inner mitochondrial membrane 8 homolog a1

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.