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MTX1 metaxin 1 [ Homo sapiens (human) ]

Gene ID: 4580, updated on 9-Aug-2020

Summary

Official Symbol
MTX1provided by HGNC
Official Full Name
metaxin 1provided by HGNC
Primary source
HGNC:HGNC:7504
See related
Ensembl:ENSG00000173171 MIM:600605
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
Expression
Ubiquitous expression in testis (RPKM 23.1), bone marrow (RPKM 13.8) and 25 other tissues See more
Orthologs

Genomic context

See MTX1 in Genome Data Viewer
Location:
1q22
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (155208699..155213839)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (155178490..155183625)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene THBS3 antisense RNA 1 Neighboring gene microRNA 92b Neighboring gene thrombospondin 3 Neighboring gene GBAP1 recombination region Neighboring gene glucosylceramidase beta pseudogene 1 Neighboring gene GBA recombination region Neighboring gene metaxin 1 pseudogene 1 Neighboring gene glucosylceramidase beta

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
inner mitochondrial membrane organization IC
Inferred by Curator
more info
PubMed 
lactation IEA
Inferred from Electronic Annotation
more info
 
protein transport IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
metaxin-1
Names
mitochondrial outer membrane import complex protein 1

NCBI Reference Sequences (RefSeq)

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)

  1. NM_002455.5NP_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
    Q13505
    UniProtKB/TrEMBL
    A0A0A0MRK6
    Related
    ENSP00000357360.3, ENST00000368376.7
    Conserved Domains (2) summary
    cd03212
    Location:255391
    GST_C_Metaxin1_3; C-terminal, alpha helical domain of Metaxin 1, Metaxin 3, and similar proteins
    pfam10568
    Location:156293
    Tom37; Outer mitochondrial membrane transport complex protein
  2. NM_198883.3NP_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:227360
    GST_C_Metaxin1_3; C-terminal, alpha helical domain of Metaxin 1, Metaxin 3, and similar proteins
    cd03078
    Location:154226
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    155208699..155213839
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003315906.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    7274..18867
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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