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Aliases for TXNL4A Gene

Aliases for TXNL4A Gene

  • Thioredoxin Like 4A 2 3 5
  • Spliceosomal U5 SnRNP-Specific 15 KDa Protein 3 4
  • Thioredoxin-Like U5 SnRNP Protein U5-15kD 3 4
  • DIM1 Protein Homolog 3 4
  • Thioredoxin-Like 4 2 3
  • TXNL4 3 4
  • DIM1 3 4
  • Thioredoxin-Like Protein 4A 3
  • Similar To S. Pombe Dim1+ 2
  • Thioredoxin-Like 4A 2
  • SNRNP15 3
  • U5-15kD 3
  • BMKS 3
  • DIB1 3

External Ids for TXNL4A Gene

Previous HGNC Symbols for TXNL4A Gene

  • TXNL4

Previous GeneCards Identifiers for TXNL4A Gene

  • GC18M075833
  • GC18M077732
  • GC18M074354

Summaries for TXNL4A Gene

Entrez Gene Summary for TXNL4A Gene

  • 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]

GeneCards Summary for TXNL4A Gene

TXNL4A (Thioredoxin Like 4A) is a Protein Coding gene. Diseases associated with TXNL4A include Burn-Mckeown Syndrome and Choanal Atresia. Among its related pathways are mRNA Splicing - Major Pathway and Gene Expression. An important paralog of this gene is TXNL4B.

UniProtKB/Swiss-Prot for TXNL4A Gene

  • Essential role in pre-mRNA splicing as component of the U5 snRNP and U4/U6-U5 tri-snRNP complexes that are involved in spliceosome assembly.

Gene Wiki entry for TXNL4A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TXNL4A Gene

Genomics for TXNL4A Gene

Regulatory Elements for TXNL4A Gene

Enhancers for TXNL4A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around TXNL4A on UCSC Golden Path with GeneCards custom track

Promoters for TXNL4A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for TXNL4A Gene

Chromosome:
18
Start:
79,970,811 bp from pter
End:
80,033,949 bp from pter
Size:
63,139 bases
Orientation:
Minus strand

Genomic View for TXNL4A Gene

Genes around TXNL4A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TXNL4A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TXNL4A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TXNL4A Gene

Proteins for TXNL4A Gene

  • Protein details for TXNL4A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P83876-TXN4A_HUMAN
    Recommended name:
    Thioredoxin-like protein 4A
    Protein Accession:
    P83876
    Secondary Accessions:
    • B2RC18
    • O14834

    Protein attributes for TXNL4A Gene

    Size:
    142 amino acids
    Molecular mass:
    16786 Da
    Quaternary structure:
    • Interacts with HNRPF, HNRPH2, NEDD9, ERBB4, and PQBP1. Component of the U5 snRNP complex. Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39. Directly interacts with CD2BP2.

    Three dimensional structures from OCA and Proteopedia for TXNL4A Gene

neXtProt entry for TXNL4A Gene

Post-translational modifications for TXNL4A Gene

  • The disulfide bond seen in structures determined by X-ray crystallography (PubMed:10610776) and NMR (PubMed:12911302) is not essential for protein folding and function (PubMed:12911302 and PubMed:17467737).
  • Ubiquitination at Lys 139
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TXNL4A Gene

Domains & Families for TXNL4A Gene

Protein Domains for TXNL4A Gene

Suggested Antigen Peptide Sequences for TXNL4A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P83876

UniProtKB/Swiss-Prot:

TXN4A_HUMAN :
  • Belongs to the DIM1 family.
Family:
  • Belongs to the DIM1 family.
genes like me logo Genes that share domains with TXNL4A: view

No data available for Gene Families for TXNL4A Gene

Function for TXNL4A Gene

Molecular function for TXNL4A Gene

UniProtKB/Swiss-Prot Function:
Essential role in pre-mRNA splicing as component of the U5 snRNP and U4/U6-U5 tri-snRNP complexes that are involved in spliceosome assembly.

Gene Ontology (GO) - Molecular Function for TXNL4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15840814
genes like me logo Genes that share ontologies with TXNL4A: view
genes like me logo Genes that share phenotypes with TXNL4A: view

Human Phenotype Ontology for TXNL4A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for TXNL4A

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TXNL4A Gene

Localization for TXNL4A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TXNL4A Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TXNL4A Gene COMPARTMENTS Subcellular localization image for TXNL4A gene
Compartment Confidence
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for TXNL4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex TAS 10610776
GO:0005682 U5 snRNP IBA --
GO:0046540 U4/U6 x U5 tri-snRNP complex IBA --
genes like me logo Genes that share ontologies with TXNL4A: view

Pathways & Interactions for TXNL4A Gene

genes like me logo Genes that share pathways with TXNL4A: view

Pathways by source for TXNL4A Gene

1 KEGG pathway for TXNL4A Gene

Gene Ontology (GO) - Biological Process for TXNL4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000245 spliceosomal complex assembly TAS 10610776
GO:0000375 RNA splicing, via transesterification reactions TAS 10610776
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0007067 mitotic nuclear division IEA --
GO:0051301 cell division IEA --
genes like me logo Genes that share ontologies with TXNL4A: view

No data available for SIGNOR curated interactions for TXNL4A Gene

Drugs & Compounds for TXNL4A Gene

No Compound Related Data Available

Transcripts for TXNL4A Gene

Unigene Clusters for TXNL4A Gene

Thioredoxin-like 4A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TXNL4A Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d · 7e
SP1: - - -
SP2: - - - - -
SP3: - - - - -
SP4: - - - -
SP5: - - - - - -
SP6: - - - - - - -
SP7: - - -
SP8:
SP9: - - - -
SP10: - - - - - - -
SP11: - - - - -

Relevant External Links for TXNL4A Gene

GeneLoc Exon Structure for
TXNL4A
ECgene alternative splicing isoforms for
TXNL4A

Expression for TXNL4A Gene

mRNA expression in normal human tissues for TXNL4A Gene

Protein differential expression in normal tissues from HIPED for TXNL4A Gene

This gene is overexpressed in Pancreas (9.0) and CD4 Tcells (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TXNL4A Gene



Protein tissue co-expression partners for TXNL4A Gene

NURSA nuclear receptor signaling pathways regulating expression of TXNL4A Gene:

TXNL4A

SOURCE GeneReport for Unigene cluster for TXNL4A Gene:

Hs.465498
genes like me logo Genes that share expression patterns with TXNL4A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TXNL4A Gene

Orthologs for TXNL4A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TXNL4A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TXNL4A 34
  • 91.55 (n)
  • 98.59 (a)
TXNL4A 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TXNL4A 34
  • 92.25 (n)
  • 99.3 (a)
TXNL4A 35
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Txnl4a 34
  • 89.91 (n)
  • 100 (a)
Txnl4a 16
Txnl4a 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TXNL4A 34
  • 94.99 (n)
  • 94.69 (a)
TXNL4A 35
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100911462 34
  • 89.91 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 99 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia TXNL4A 35
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves TXNL4A 34
  • 83.57 (n)
  • 99.3 (a)
-- 35
  • 99 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 99 (a)
ManyToMany
-- 35
  • 99 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.47 34
txnl4a 34
  • 81.46 (n)
  • 97.89 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8119 34
zebrafish
(Danio rerio)
Actinopterygii Dr.23353 34
txnl4a 34
  • 81.69 (n)
  • 96.48 (a)
txnl4a 35
  • 97 (a)
ManyToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11084 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008298 34
  • 81.69 (n)
  • 95.07 (a)
fruit fly
(Drosophila melanogaster)
Insecta Dim1 34
  • 83.33 (n)
  • 95.77 (a)
Dim1 35
  • 96 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y54G2A.75 35
  • 87 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL374W 34
  • 71.01 (n)
  • 69.57 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B08910g 34
  • 64.73 (n)
  • 71.01 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DIB1 34
  • 60.87 (n)
  • 65.94 (a)
DIB1 35
  • 64 (a)
OneToMany
DIB1 37
thale cress
(Arabidopsis thaliana)
eudicotyledons YLS8 34
  • 75.35 (n)
  • 85.21 (a)
soybean
(Glycine max)
eudicotyledons Gma.1488 34
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.8794 34
barley
(Hordeum vulgare)
Liliopsida Hv.3702 34
rice
(Oryza sativa)
Liliopsida Os.12368 34
Os10g0486600 34
  • 77.7 (n)
  • 83.8 (a)
corn
(Zea mays)
Liliopsida Zm.17080 34
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2538 34
bread mold
(Neurospora crassa)
Ascomycetes NCU08395 34
  • 75.12 (n)
  • 83.1 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes dim1 34
  • 65.26 (n)
  • 78.87 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9800 35
  • 89 (a)
OneToMany
Species where no ortholog for TXNL4A was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TXNL4A Gene

ENSEMBL:
Gene Tree for TXNL4A (if available)
TreeFam:
Gene Tree for TXNL4A (if available)

Paralogs for TXNL4A Gene

Paralogs for TXNL4A Gene

(1) SIMAP similar genes for TXNL4A Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for TXNL4A Gene

genes like me logo Genes that share paralogs with TXNL4A: view

Variants for TXNL4A Gene

Sequence variations from dbSNP and Humsavar for TXNL4A Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs891490 -- 80,027,419(-) tgtgg(G/T)ttggg intron-variant
rs919530 -- 80,002,824(+) GCTTT(C/T)CACTT intron-variant
rs1077510 -- 79,988,659(-) CTACA(C/T)GTTCG intron-variant, upstream-variant-2KB
rs1077511 -- 79,988,525(-) TTGCG(G/T)GTGCG intron-variant, nc-transcript-variant, utr-variant-5-prime
rs3052433 -- 79,998,885(+) TGACT(-/GACT)TCTCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TXNL4A Gene

Variant ID Type Subtype PubMed ID
dgv3412n100 CNV gain 25217958
esv3643326 CNV loss 21293372
nsv1060141 CNV gain 25217958
nsv1061450 CNV gain 25217958
nsv1065902 CNV gain 25217958
nsv428359 CNV gain 18775914
nsv470437 CNV loss 18288195
nsv577953 CNV loss 21841781
nsv577958 CNV gain 21841781

Variation tolerance for TXNL4A Gene

Residual Variation Intolerance Score: 43.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.13; 2.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TXNL4A Gene

Human Gene Mutation Database (HGMD)
TXNL4A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TXNL4A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TXNL4A Gene

Disorders for TXNL4A Gene

MalaCards: The human disease database

(5) MalaCards diseases for TXNL4A Gene - From: OMIM, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
burn-mckeown syndrome
  • bmks
choanal atresia
  • atresia of nares
acrofacial dysostosis 1, nager type
  • nager acrofacial dysostosis
acrofacial dysostosis
treacher collins syndrome 1
  • treacher collins syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TXN4A_HUMAN
  • Burn-McKeown syndrome (BMKS) [MIM:608572]: A disease characterized by choanal atresia, sensorineural deafness, cardiac defects, and typical craniofacial dysmorphism consisting of narrow palpebral fissures, coloboma of the lower eyelids, prominent nose with high nasal bridge, short philtrum, cleft lip and/or palate, and large and protruding ears. Intellectual development is normal. {ECO:0000269 PubMed:25434003}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TXNL4A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TXNL4A
genes like me logo Genes that share disorders with TXNL4A: view

No data available for Genatlas for TXNL4A Gene

Publications for TXNL4A Gene

  1. The evolutionarily conserved Dim1 protein defines a novel branch of the thioredoxin fold superfamily. (PMID: 11015569) Zhang Y.-Z. … Golemis E.A. (Physiol. Genomics 1999) 2 3 4 65
  2. Identification, characterization and crystal structure analysis of the human spliceosomal U5 snRNP-specific 15kD protein. (PMID: 10610776) Reuter K. … Ficner R. (J. Mol. Biol. 1999) 3 4 22 65
  3. Mutations in the PQBP1 gene prevent its interaction with the spliceosomal protein U5-15 kD. (PMID: 24781215) Mizuguchi M. … Okazawa H. (Nat. Commun. 2014) 3 4 65
  4. Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. (PMID: 25434003) Wieczorek D. … Strom T.M. (Am. J. Hum. Genet. 2014) 3 4 65
  5. Interactions of ErbB4 and Kap1 connect the growth factor and DNA damage response pathways. (PMID: 20858735) Gilmore-Hebert M. … Stern D.F. (Mol. Cancer Res. 2010) 3 4 65

Products for TXNL4A Gene

Sources for TXNL4A Gene

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