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MTX3 metaxin 3 [ Homo sapiens (human) ]

Gene ID: 345778, updated on 3-May-2020

Summary

Official Symbol
MTX3provided by HGNC
Official Full Name
metaxin 3provided by HGNC
Primary source
HGNC:HGNC:24812
See related
Ensembl:ENSG00000177034
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
Expression
Ubiquitous expression in brain (RPKM 5.4), thyroid (RPKM 5.2) and 25 other tissues See more
Orthologs

Genomic context

See MTX3 in Genome Data Viewer
Location:
5q14.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (79976716..79991262, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (79272539..79287088, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724557 Neighboring gene uncharacterized LOC105379048 Neighboring gene long intergenic non-protein coding RNA 1455 Neighboring gene thrombospondin 4 Neighboring gene RBX1 pseudogene 2 Neighboring gene tRNA methyltransferase subunit 11-2 pseudogene 2

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686O1788

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 
protein transport IEA
Inferred from Electronic Annotation
more info
 

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_001010891.5NP_001010891.4  metaxin-3 isoform 2

    See identical proteins and their annotated locations for NP_001010891.4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the 3' end compared to variant 3, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 3.
    Source sequence(s)
    AC112184, AK296864, BQ128103, DB456588
    Consensus CDS
    CCDS47239.2
    UniProtKB/Swiss-Prot
    Q5HYI7
    Related
    ENSP00000423302.1, ENST00000509852.6
    Conserved Domains (2) summary
    cd03212
    Location:105241
    GST_C_Metaxin1_3; C-terminal, alpha helical domain of Metaxin 1, Metaxin 3, and similar proteins
    pfam10568
    Location:7142
    Tom37; Outer mitochondrial membrane transport complex protein
  2. NM_001167741.2NP_001161213.1  metaxin-3 isoform 1

    See identical proteins and their annotated locations for NP_001161213.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR and coding sequence compared to variant 3. The resulting isoform (1) is shorter at the N-terminus compared to isoform 3.
    Source sequence(s)
    AC112184, BQ128103, BX538064, DB456588
    Consensus CDS
    CCDS54872.1
    UniProtKB/Swiss-Prot
    Q5HYI7
    Related
    ENSP00000423600.1, ENST00000512560.5
    Conserved Domains (2) summary
    cd03212
    Location:44180
    GST_C_Metaxin1_3; C-terminal, alpha helical domain of Metaxin 1, Metaxin 3, and similar proteins
    pfam10568
    Location:281
    Tom37; Outer mitochondrial membrane transport complex protein
  3. NM_001363818.2NP_001350747.1  metaxin-3 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
    Source sequence(s)
    AC112184
    Consensus CDS
    CCDS87308.1
    Related
    ENSP00000424798.1, ENST00000512528.2
    Conserved Domains (2) summary
    cd03212
    Location:105241
    GST_C_Metaxin1_3; C-terminal, alpha helical domain of Metaxin 1, Metaxin 3, and similar proteins
    pfam10568
    Location:7142
    Tom37; Outer mitochondrial membrane transport complex protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    79976716..79991262 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009440.1XP_016864929.1  metaxin-3 isoform X2

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