TXNL4A (thioredoxin like 4A)

2003-11-01  

Identity

HGNC
LOCATION
18q23
LOCUSID
ALIAS
BMKS,DIB1,DIM1,SNRNP15,TXNL4,U5-15kD
FUSION GENES

Other Information

Locus ID:

NCBI: 10907
MIM: 611595
HGNC: 30551
Ensembl: ENSG00000141759

Variants:

dbSNP: 10907
ClinVar: 10907
TCGA: ENSG00000141759
COSMIC: TXNL4A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000141759ENST00000269601P83876
ENSG00000141759ENST00000355491O14835
ENSG00000141759ENST00000585474K7ESL1
ENSG00000141759ENST00000585769K7EPA6
ENSG00000141759ENST00000586295K7EMX5
ENSG00000141759ENST00000586825K7EPA6
ENSG00000141759ENST00000588162K7EJU2
ENSG00000141759ENST00000591711K7ES07
ENSG00000141759ENST00000592837K7ESL1
ENSG00000141759ENST00000592957K7ESL1

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Spliceosome, U4/U6.U5 tri-snRNPKEGGhsa_M00354
Spliceosome, U4/U6.U5 tri-snRNPKEGGM00354
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163
mRNA Splicing - Minor PathwayREACTOMER-HSA-72165

References

Pubmed IDYearTitleCitations
254340032014Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.21
203076922010Polyglutamine tract-binding protein-1 binds to U5-15kD via a continuous 23-residue segment of the C-terminal domain.3
289058822017Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia.2
171778862006Identification of human dim1 as a peptidase with autocleavage activity.1
273149042016Allosteric modulation of the binding affinity between PQBP1 and the spliceosomal protein U5-15kD.1

Citation

Dessen P

TXNL4A (thioredoxin like 4A)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/42735/txnl4a