TIMM10B translocase of inner mitochondrial membrane 10B [Homo sapiens (human)] - Gene

Summary

Official Symbol: TIMM10Bprovided by HGNC
Official Full Name: translocase of inner mitochondrial membrane 10Bprovided by HGNC
Primary source: HGNC:HGNC:4022
See related: Ensembl:ENSG00000132286 MIM:607388; AllianceGenome:HGNC:4022
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: FXC1; Tim9b; TIM10B
Summary: FXC1, or TIMM10B, 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 18.0), prostate (RPKM 12.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.4

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (6481501..6484681)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (6539973..6543153)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (6502731..6505911)

Chromosome 11 - NC_000011.10 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 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?

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

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

D8S2279 (e-PCR)
- UniSTS:473907

D10S16 (e-PCR)
- UniSTS:155756

D11S3114 (e-PCR)
- UniSTS:152207

RH103170 (e-PCR)
- UniSTS:97503

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables unfolded protein binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in cell-matrix adhesion	TAS Traceable Author Statement more info	PubMed
involved_in protein insertion into mitochondrial inner membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein insertion into mitochondrial inner membrane	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of TIM22 mitochondrial import inner membrane insertion complex	IDA Inferred from Direct Assay 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	TAS 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	IDA Inferred from Direct Assay more info	PubMed
part_of mitochondrial intermembrane space protein transporter complex	IPI Inferred from Physical Interaction 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 Tim10 B

Names: fracture callus 1 homolog; fracture callus protein 1; mitochondrial import inner membrane translocase subunit Tim9 B; translocase of inner mitochondrial membrane 10 homolog B

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.