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    TXNL1 thioredoxin like 1 [ Homo sapiens (human) ]

    Gene ID: 9352, updated on 17-Jun-2019

    Summary

    Official Symbol
    TXNL1provided by HGNC
    Official Full Name
    thioredoxin like 1provided by HGNC
    Primary source
    HGNC:HGNC:12436
    See related
    Ensembl:ENSG00000091164 MIM:603049
    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
    Txl; TXNL; TRP32; TXL-1; HEL-S-114
    Expression
    Ubiquitous expression in thyroid (RPKM 57.8), testis (RPKM 14.4) and 25 other tissues See more
    Orthologs

    Genomic context

    See TXNL1 in Genome Data Viewer
    Location:
    18q21.31
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (56597209..56638689, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (54270053..54305920, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC642484 Neighboring gene uncharacterized LOC105372132 Neighboring gene uncharacterized LOC105372135 Neighboring gene Sharpr-MPRA regulatory region 10710 Neighboring gene WD repeat domain 7

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    disulfide oxidoreductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    cell redox homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    proteasome complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    thioredoxin-like protein 1
    Names
    32 kDa thioredoxin-related protein
    epididymis secretory protein Li 114
    thioredoxin-related 32 kDa protein
    thioredoxin-related 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_004786.3NP_004777.1  thioredoxin-like protein 1

      See identical proteins and their annotated locations for NP_004777.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the protein coding transcript.
      Source sequence(s)
      AC007052, AF003938, AV750604
      Consensus CDS
      CCDS11961.1
      UniProtKB/Swiss-Prot
      O43396
      UniProtKB/TrEMBL
      V9HW51
      Related
      ENSP00000217515.5, ENST00000217515.11
      Conserved Domains (2) summary
      cd02947
      Location:12104
      TRX_family; TRX family; composed of two groups: Group I, which includes proteins that exclusively encode a TRX domain; and Group II, which are composed of fusion proteins of TRX and additional domains. Group I TRX is a small ancient protein that alter the redox ...
      pfam06201
      Location:126268
      PITH; PITH domain

    RNA

    1. NR_024546.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an additional exon compared to transcript variant 1. This results in a frame-shift and premature translation termination, rendering the transcript susceptible to nonsense mediated mRNA decay (NMD). This transcript is sufficiently abundant to represent as a RefSeq record, however, the predicted protein is not represented because it is significantly truncated.
      Source sequence(s)
      AF003938, AV750604, DA248363

    RefSeqs of Annotated Genomes: Homo sapiens 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_000018.10 Reference GRCh38.p13 Primary Assembly

      Range
      56597209..56638689 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024451289.1XP_024307057.1  thioredoxin-like protein 1 isoform X1

      Conserved Domains (2) summary
      cd02947
      Location:12104
      TRX_family; TRX family; composed of two groups: Group I, which includes proteins that exclusively encode a TRX domain; and Group II, which are composed of fusion proteins of TRX and additional domains. Group I TRX is a small ancient protein that alter the redox ...
      pfam06201
      Location:126268
      PITH; PITH domain
    2. XM_011526264.2XP_011524566.1  thioredoxin-like protein 1 isoform X3

      Conserved Domains (1) summary
      pfam06201
      Location:3145
      PITH; PITH domain
    3. XM_024451290.1XP_024307058.1  thioredoxin-like protein 1 isoform X2

      Conserved Domains (2) summary
      cd02947
      Location:12104
      TRX_family; TRX family; composed of two groups: Group I, which includes proteins that exclusively encode a TRX domain; and Group II, which are composed of fusion proteins of TRX and additional domains. Group I TRX is a small ancient protein that alter the redox ...
      pfam06201
      Location:126268
      PITH; PITH domain
    4. XM_017026094.1XP_016881583.1  thioredoxin-like protein 1 isoform X4

      Conserved Domains (1) summary
      pfam06201
      Location:3145
      PITH; PITH domain
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