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    TMX3 thioredoxin related transmembrane protein 3 [ Homo sapiens (human) ]

    Gene ID: 54495, updated on 17-Jun-2024

    Summary

    Official Symbol
    TMX3provided by HGNC
    Official Full Name
    thioredoxin related transmembrane protein 3provided by HGNC
    Primary source
    HGNC:HGNC:24718
    See related
    Ensembl:ENSG00000166479 MIM:616102; AllianceGenome:HGNC:24718
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PDIA13; TXNDC10
    Summary
    This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The canonical protein encoded by this gene has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and a C-terminal ER-retention sequence. This gene is expressed in many tissues but has its highest expression in heart and skeletal muscle. It is expressed in the retinal neuroepithelium and lens epithelium in the developing murine eye and haploinsufficiency of this gene in humans and zebrafish is associated with microphthalmia. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017]
    Expression
    Ubiquitous expression in appendix (RPKM 11.6), lymph node (RPKM 10.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TMX3 in Genome Data Viewer
    Location:
    18q22.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (68673688..68715108, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (68889797..68931229, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (66340925..66382345, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene aldo-keto reductase family 1 member B10 pseudogene 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:66231510-66232069 Neighboring gene metallothionein-like 3, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9536 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9537 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13474 Neighboring gene coiled-coil domain containing 102B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:66457198-66457835 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:66457836-66458472 Neighboring gene RNA, U6 small nuclear 39, pseudogene Neighboring gene succinate dehydrogenase complex subunit C pseudogene 1

    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

    EBI GWAS Catalog

    Description
    Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: genome-wide association study of both common and rare variants.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with TMX3; predicted interaction to be within the endoplasmic reticulum and function as thioredoxin reductase PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20793, KIAA1830

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein disulfide isomerase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein-disulfide reductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in platelet alpha granule membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    protein disulfide-isomerase TMX3
    Names
    protein disulfide isomerase family A, member 13
    thioredoxin domain containing 10
    thioredoxin domain-containing protein 10
    NP_001337441.1
    NP_001337442.1
    NP_001337443.1
    NP_001337444.1
    NP_001337445.1
    NP_001337446.1
    NP_061895.3
    XP_011524336.1
    XP_011524337.1
    XP_054174670.1
    XP_054174671.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_053149.1 RefSeqGene

      Range
      5191..46611
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001350512.2NP_001337441.1  protein disulfide-isomerase TMX3 isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AK310389, BC032325
      Consensus CDS
      CCDS86680.1
      Related
      ENSP00000457262.1, ENST00000562706.5
      Conserved Domains (1) summary
      cd03000
      Location:27130
      PDI_a_TMX3; PDIa family, TMX3 subfamily; composed of eukaryotic proteins similar to human TMX3, a TRX related transmembrane protein containing one redox active TRX domain at the N-terminus and a classical ER retrieval sequence for type I transmembrane proteins at ...
    2. NM_001350513.2NP_001337442.1  protein disulfide-isomerase TMX3 isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AK295551, AK310389, BQ027526
      Consensus CDS
      CCDS86679.1
      UniProtKB/TrEMBL
      B4DIE3
      Related
      ENSP00000402605.2, ENST00000443099.6
      Conserved Domains (1) summary
      cl00388
      Location:27104
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
    3. NM_001350514.2NP_001337443.1  protein disulfide-isomerase TMX3 isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AK310389, AL832341, BX647846
      UniProtKB/TrEMBL
      Q3B7X1
      Conserved Domains (2) summary
      cl00388
      Location:27104
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
      cl27119
      Location:29319
      YbbN; Negative regulator of GroEL, contains thioredoxin-like and TPR-like domains [Posttranslational modification, protein turnover, chaperones]
    4. NM_001350515.2NP_001337444.1  protein disulfide-isomerase TMX3 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AK310389, AL832341, BC143400, BX647846
      Conserved Domains (1) summary
      pfam13848
      Location:19196
      Thioredoxin_6; Thioredoxin-like domain
    5. NM_001350516.2NP_001337445.1  protein disulfide-isomerase TMX3 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AK310389, AL832341, BX647846
      Conserved Domains (1) summary
      pfam13848
      Location:19196
      Thioredoxin_6; Thioredoxin-like domain
    6. NM_001350517.2NP_001337446.1  protein disulfide-isomerase TMX3 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AK310389, AL832341, AV649664, BX647846
      Conserved Domains (1) summary
      pfam13848
      Location:19196
      Thioredoxin_6; Thioredoxin-like domain
    7. NM_019022.5NP_061895.3  protein disulfide-isomerase TMX3 isoform 1 precursor

      See identical proteins and their annotated locations for NP_061895.3

      Status: REVIEWED

      Source sequence(s)
      AK310389, AL832341, BX647846
      Consensus CDS
      CCDS32840.1
      UniProtKB/Swiss-Prot
      B3KV75, Q52LT7, Q8N5J0, Q96JJ7, Q9NWJ9
      UniProtKB/TrEMBL
      Q3B7X1
      Related
      ENSP00000299608.2, ENST00000299608.7
      Conserved Domains (2) summary
      cd03000
      Location:27130
      PDI_a_TMX3; PDIa family, TMX3 subfamily; composed of eukaryotic proteins similar to human TMX3, a TRX related transmembrane protein containing one redox active TRX domain at the N-terminus and a classical ER retrieval sequence for type I transmembrane proteins at ...
      TIGR01130
      Location:29346
      ER_PDI_fam; protein disulfide isomerase, eukaryotic

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      68673688..68715108 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011526034.4XP_011524336.1  protein disulfide-isomerase TMX3 isoform X1

      Conserved Domains (1) summary
      cd03000
      Location:27130
      PDI_a_TMX3; PDIa family, TMX3 subfamily; composed of eukaryotic proteins similar to human TMX3, a TRX related transmembrane protein containing one redox active TRX domain at the N-terminus and a classical ER retrieval sequence for type I transmembrane proteins at ...
    2. XM_011526035.4XP_011524337.1  protein disulfide-isomerase TMX3 isoform X2

      Conserved Domains (1) summary
      cd03000
      Location:27130
      PDI_a_TMX3; PDIa family, TMX3 subfamily; composed of eukaryotic proteins similar to human TMX3, a TRX related transmembrane protein containing one redox active TRX domain at the N-terminus and a classical ER retrieval sequence for type I transmembrane proteins at ...

    RNA

    1. XR_935227.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      68889797..68931229 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318695.1XP_054174670.1  protein disulfide-isomerase TMX3 isoform X1

    2. XM_054318696.1XP_054174671.1  protein disulfide-isomerase TMX3 isoform X2

    RNA

    1. XR_008485001.1 RNA Sequence