MTX1 metaxin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MTX1provided by HGNC
Official Full Name: metaxin 1provided by HGNC
Primary source: HGNC:HGNC:7504
See related: Ensembl:ENSG00000173171 MIM:600605; AllianceGenome:HGNC:7504
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: MTX; MTXN
Summary: Predicted to be involved in mitochondrion organization. Located in mitochondrion. Part of SAM complex. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis (RPKM 23.1), bone marrow (RPKM 13.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q22

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (155208695..155213839)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (154347258..154352402)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (155178486..155183630)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Genome-scale CRISPRa screening identifies MTX1 as a contributor for sorafenib resistance in hepatocellular carcinoma by augmenting autophagy.
Title: Genome-scale CRISPRa screening identifies MTX1 as a contributor for sorafenib resistance in hepatocellular carcinoma by augmenting autophagy.
after the induction of apoptosis, Bak switches from its association with Mtx2 and VDAC2 to a closer association with Mtx1.
Title: The phosphorylation of Metaxin 1 controls Bak activation during TNFα induced cell death.
Results describe the association between the MTX1 and beta-glucocerebrosidase genes and its possible effect on Parkinson disease.
Title: Homozygosity for the MTX1 c.184T>A (p.S63T) alteration modifies the age of onset in GBA-associated Parkinson's disease.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
mitofilin helps regulate mitochondrial morphology and at least four of the associated proteins (metaxins 1 and 2, SAM50 and CHCHD3) have been implicated in protein import
Title: The mitochondrial inner membrane protein mitofilin exists as a complex with SAM50, metaxins 1 and 2, coiled-coil-helix coiled-coil-helix domain-containing protein 3 and 6 and DnaJC11.
Single Nucleotide Polymorphism in metaxin 1 is associated with Gaucher disease
Title: A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher disease.
The pathway of Voltage-dependent anion-selective channel biogenesis in human mitochondria involves the TOM complex, Sam50 and metaxins, and that it is evolutionarily conserved.
Title: Conserved roles of Sam50 and metaxins in VDAC biogenesis.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

D1S3500 (e-PCR)
- UniSTS:17944

RH79053 (e-PCR)
- UniSTS:27020

RH69089 (e-PCR)
- UniSTS:50344

AL034327 (e-PCR)
- UniSTS:94153

G06424 (e-PCR)
- UniSTS:7912

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in inner mitochondrial membrane organization	IC Inferred by Curator more info	PubMed
involved_in lactation	IEA Inferred from Electronic Annotation more info
involved_in mitochondrion organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein insertion into mitochondrial outer membrane	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of MIB complex	HDA more info	PubMed
part_of SAM complex	HDA more info	PubMed
part_of SAM complex	IBA Inferred from Biological aspect of Ancestor more info
part_of SAM complex	IPI Inferred from Physical Interaction more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in mitochondrial outer membrane	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrion	HTP more info	PubMed

General protein information

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Preferred Names: metaxin-1

Names: mitochondrial outer membrane import complex protein 1

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_002455.5 → NP_002446.3 metaxin-1 isoform 1

See identical proteins and their annotated locations for NP_002446.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC234582, AI241389, AK313863, BC001906, BG717732

Consensus CDS

CCDS1100.1

UniProtKB/Swiss-Prot

A0A0A0MRK6, B1AVR9, B1AVS0, B2R9P4, Q13505, Q9BUU3

Related

ENSP00000357360.3, ENST00000368376.8

Conserved Domains (2) summary

cd03212
Location:255 → 391

GST_C_Metaxin1_3; C-terminal, alpha helical domain of Metaxin 1, Metaxin 3, and similar proteins

pfam10568
Location:156 → 293

Tom37; Outer mitochondrial membrane transport complex protein
NM_198883.3 → NP_942584.2 metaxin-1 isoform 2

See identical proteins and their annotated locations for NP_942584.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.

Source sequence(s)

AI241389, BC001906, BG717732

Consensus CDS

CCDS1101.1

UniProtKB/Swiss-Prot

Q13505

UniProtKB/TrEMBL

A0A0C4DFQ1

Related

ENSP00000317106.4, ENST00000316721.8

Conserved Domains (2) summary

cd03212
Location:227 → 360

GST_C_Metaxin1_3; C-terminal, alpha helical domain of Metaxin 1, Metaxin 3, and similar proteins

cd03078
Location:154 → 226

GST_N_Metaxin1_like; GST_N family, Metaxin subfamily, Metaxin 1-like proteins; composed of metaxins 1 and 3, and similar proteins including Tom37 from fungi. Mammalian metaxin (or metaxin 1) and the fungal protein Tom37 are components of preprotein import complexes of the ...