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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]
TXNL4A (Thioredoxin Like 4A) is a Protein Coding gene. Diseases associated with TXNL4A include Burn-Mckeown Syndrome and Renpenning Syndrome 1. Among its related pathways are mRNA Splicing - Minor Pathway and Gene Expression. An important paralog of this gene is TXNL4B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 15840814 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IDA | 26912367 |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005681 | spliceosomal complex | TAS | 10610776 |
GO:0005682 | U5 snRNP | IBA | 21873635 |
GO:0005737 | cytoplasm | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | mRNA Splicing - Major Pathway |
.79
|
.47
.41
|
2 | Gene Expression |
.48
|
|
3 | mRNA Splicing - Minor Pathway |
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 | IEA,TAS | -- |
GO:0006397 | mRNA processing | IEA | -- |
GO:0007049 | cell cycle | IEA | -- |
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: | - | - | - | - | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Platypus (Ornithorhynchus anatinus) |
Mammalia | TXNL4A 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
Chimpanzee (Pan troglodytes) |
Mammalia | TXNL4A 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TXNL4A 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TXNL4A 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Txnl4a 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | LOC100911462 30 |
|
||
Chicken (Gallus gallus) |
Aves | -- 31 |
|
ManyToMany | |
TXNL4A 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | txnl4a 30 |
|
||
Str.47 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.8119 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | txnl4a 30 31 |
|
ManyToMany | |
Dr.23353 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11084 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Dim1 30 31 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008298 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | Y54G2A.75 31 |
|
OneToMany | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ADL374W 30 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0B08910g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | DIB1 30 31 33 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | YLS8 30 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.8794 30 |
|
||
Soybean (Glycine max) |
eudicotyledons | Gma.1488 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os10g0486600 30 |
|
||
Os.12368 30 |
|
||||
Barley (Hordeum vulgare) |
Liliopsida | Hv.3702 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.17080 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9800 31 |
|
OneToMany | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU08395 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | dim1 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.2538 30 |
|
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
253188 | Pathogenic: Burn-McKeown syndrome | 79,976,959(-) | GTTTTTGATTTTTTTT | SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT,INITIATIOR_CODON_VARIANT | |
722554 | Benign: not provided | 79,973,691(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
rs1257114490 | Uncertain Significance: not provided | 79,988,370(-) | A/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
rs1555719172 | Likely Pathogenic: not provided | 79,988,282(-) | CGTAGGATCCCAGTCG | FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
rs535089924 | Pathogenic: Burn-McKeown syndrome | 79,988,580(-) | ACGCCGTGCGTGCTGA | INTRON_VARIANT |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
burn-mckeown syndrome |
|
|
renpenning syndrome 1 |
|
|
mandibulofacial dysostosis, guion-almeida type |
|
|
leukodystrophy, hypomyelinating, 9 |
|
|
leukodystrophy, hypomyelinating, 5 |
|
|