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    TXNL4A thioredoxin like 4A [ Homo sapiens (human) ]

    Gene ID: 10907, updated on 21-Mar-2023

    Summary

    Official Symbol
    TXNL4Aprovided by HGNC
    Official Full Name
    thioredoxin like 4Aprovided by HGNC
    Primary source
    HGNC:HGNC:30551
    See related
    Ensembl:ENSG00000141759 MIM:611595; AllianceGenome:HGNC:30551
    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
    BMKS; DIB1; DIM1; TXNL4; SNRNP15; U5-15kD
    Summary
    The protein encoded by this gene is a member of the U5 small ribonucleoprotein particle (snRNP), and is involved in pre-mRNA splicing. This protein contains a thioredoxin-like fold and it is expected to interact with multiple proteins. Protein-protein interactions have been observed with the polyglutamine tract-binding protein 1 (PQBP1). Mutations in both the coding region and promoter region of this gene have been associated with Burn-McKeown syndrome, which is a rare disorder characterized by craniofacial dysmorphisms, cardiac defects, hearing loss, and bilateral choanal atresia. A pseudogene of this gene is found on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
    Expression
    Ubiquitous expression in brain (RPKM 13.4), testis (RPKM 11.6) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See TXNL4A in Genome Data Viewer
    Location:
    18q23
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (79970813..80033936, complement)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (80247334..80310473, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (77730813..77793936, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr18:77718329-77718926 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:77720052-77720736 Neighboring gene heat shock factor binding protein 1 like 1 Neighboring gene OCT4 hESC enhancer GRCh37_chr18:77766658-77767159 Neighboring gene Sharpr-MPRA regulatory region 15651 Neighboring gene ribosome binding factor A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:77825575-77826076

    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?

    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
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing, via transesterification reactions TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in mRNA splicing, via spliceosome NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in spliceosomal complex assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of U2-type precatalytic spliceosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of U4/U6 x U5 tri-snRNP complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of U4/U6 x U5 tri-snRNP complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of U4/U6 x U5 tri-snRNP complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of U5 snRNP IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of spliceosomal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of spliceosomal complex TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    thioredoxin-like protein 4A
    Names
    DIM1 protein homolog
    spliceosomal U5 snRNP-specific 15 kDa protein
    thioredoxin-like 4
    thioredoxin-like U5 snRNP protein U5-15kD

    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_042061.2 RefSeqGene

      Range
      50373..68123
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001303471.3NP_001290400.1  thioredoxin-like protein 4A isoform 2

      See identical proteins and their annotated locations for NP_001290400.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in its 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC090360, AK309098, BC001046, BE385528, BF972457
      UniProtKB/Swiss-Prot
      P83876
      Conserved Domains (1) summary
      cl00388
      Location:13103
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
    2. NM_001305557.2NP_001292486.1  thioredoxin-like protein 4A isoform 3

      See identical proteins and their annotated locations for NP_001292486.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1, but has the same N- and C-termini.
      Source sequence(s)
      AC090360, BC001046, BE385528, BF972457, BM922767
      UniProtKB/Swiss-Prot
      P83876
      Conserved Domains (1) summary
      PLN00410
      Location:1134
      PLN00410; U5 snRNP protein, DIM1 family; Provisional
    3. NM_001305563.2NP_001292492.1  thioredoxin-like protein 4A isoform 4

      See identical proteins and their annotated locations for NP_001292492.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains two alternate exons in its 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus than isoform 1. Variants 4 and 5 encode the same isoform (4).
      Source sequence(s)
      AC090360, AV729855, BC001046, BQ011103
      Consensus CDS
      CCDS82260.1
      UniProtKB/Swiss-Prot
      P83876
      UniProtKB/TrEMBL
      K7ESL1
      Related
      ENSP00000465493.1, ENST00000592957.1
      Conserved Domains (1) summary
      cl00388
      Location:171
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
    4. NM_001305564.2NP_001292493.1  thioredoxin-like protein 4A isoform 4

      See identical proteins and their annotated locations for NP_001292493.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an alternate exon in its 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus than isoform 1. Variants 4 and 5 encode the same isoform (4).
      Source sequence(s)
      AC090360, AV729855, BC001046, BQ011103
      Consensus CDS
      CCDS82260.1
      UniProtKB/Swiss-Prot
      P83876
      UniProtKB/TrEMBL
      K7ESL1
      Related
      ENSP00000465572.1, ENST00000585474.5
      Conserved Domains (1) summary
      cl00388
      Location:171
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
    5. NM_006701.5NP_006692.1  thioredoxin-like protein 4A isoform 1

      See identical proteins and their annotated locations for NP_006692.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC090360, BC001046, BE385528, BF972457
      Consensus CDS
      CCDS32852.1
      UniProtKB/Swiss-Prot
      O14834, P83876
      Related
      ENSP00000269601.4, ENST00000269601.10
      Conserved Domains (1) summary
      PLN00410
      Location:1142
      PLN00410; U5 snRNP protein, DIM1 family; Provisional

    RNA

    1. NR_131175.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) contains two alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA923682, AC090360, AK309098, AL522879, BC001046, BE385528, BF972457
    2. NR_131176.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA923682, AC090360, BC001046, BE385528, BF972457, BU553165
    3. NR_131177.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AC090360, AW796546, BC001046, BE385528, BF972457

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

    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
      79970813..80033936 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      80247334..80310473 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)