| Gene Name | TXNL4A |
|
| Specie | Homo sapiens | |
| Full Name | thioredoxin like 4A | |
| Also known as | BMKS|DIB1|DIM1|SNRNP15|TXNL4|U5-15kD | |
| Coordinate | chr18:79970813-80033936 | |
| Strand | - | |
| Gene 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] |
| Retroname | Coord | Strand | Genomic Region | ENSG | |
|---|---|---|---|---|---|
| TXNL4AP1 | chr2:179814257-179814831 | + |
Intragenic |
ENSG00000213126 | UCSC |
| TXNL4AP2 | chrX:130698040-130698248 | - |
Intragenic |
N/A | UCSC |
| >NM_006701.5 |
| AGACGTTCTGCCGGGTGGCAGTCCCAGCGGAGTTTGCGTGTGCGGGCGGGACCGGATTTCGTCCGTGGGCCCGGGGGCGGCGGGGGCCGGGGAGTGAGGGGCCGGCTGAGCCCACCTCGCTGGGCCCTCCCTGGCGCCCCGCCTTGGGCGGCGGCGAGCGCGCGGGCCGCCATGTCGTACATGCTCCCGCACCTGCACAACGGCTGGCAGGTGGACCAGGCCATCCTCTCGGAGGAGGACCGCGTGGTCGTCATCCGCTTCGGCCACGACTGGGATCCTACGTGCATGAAGATGGACGAGGTCCTGTACAGCATCGCCGAGAAGGTTAAAAATTTTGCAGTTATTTATCTTGTGGATATTACAGAAGTGCCTGACTTCAACAAAATGTATGAGTTATACGATCCATGTACTGTCATGTTTTTCTTCAGGAACAAGCACATCATGATTGACTTGGGGACTGGCAACAACAACAAGATTAACTGGGCCATGGAGGACAAGCAGGAGATGGTGGACATCATCGAGACGGTGTACCGCGGGGCCCGCAAAGGCCGCGGCCTGGTGGTGTCCCCCAAGGACTACTCCACCAAGTACCGCTACTGAGGCGCCCTCAGTCTGCGCGGATAAATGTCGTGGAGCCCTTTTTGTATGGAAACGTTTTAAGCTATTTAAAGCCTTTGGAAAATACAGGAAGCTCCAGGGCTGGAGCACCTCTGAGATGGAATTGATAACATGGTCTTAACTCACCGAAATAAACAAGCACGTGGTGAGAGGAGCAGGCCTACTTGTTTGTTCTCAGGAAACTTAATGAATAGATTACTGATTTTCCTAGTCAAAGTTAATTCTTACCCTTGGAGTAAAACGAAGGTGTTTATCCTGTGAGCCTGTGCGTTTTGCATACTGGGttggtttgctggggctgcggtgacagcatatgccgcgagctgggctttaacagagatgtgtgctctcacagctttgcaggcgggggtctgagatcagggtgtcgcgggtggggggtcactgctgaggccgtgaggggaatctgctcaggcctgtccctggcttctgggggctgctggtggtattttcagttccttggtgtgtggatacttcgccccatctctgccttcacctgtgtcctccctgtgtgggtgctggtgtccaaaatttccccttttcgtagtgacaccagctgtgttggattggggcccaccctgctccagcatggcctaatcttaactaattacatttgcaaggatcttatgtccacaaaagtcacagtctgaggtgctgggggttaggacttcaatatataaattttgcggttacacaattcaatccatgacaGAATCCAAAGGTTTACTCTGGTTATAAAAACAGTACAATAAAATATTGTTTATAGCCTTCCCTGTAAGGAATAGGAGAGCTATTTTTTATTCTTCCCAAGATTGTATTTGATGTAAACATATTTTCTGTAGAAGCCATGGCCCTTCAGTTCATATAGTTAGAAAATTTCCTTATTggccaggcacggtggctcacacctgtaatcccagcactttgggaggccgaggtgggcagatcacgaagtcaggtgttcgagaccagcctggccaacatggtgaaatcccgtctctactaaaaatacaaaaattagctgggcatggtggcgcgtgcctgtaatcccagctacttggaaggctgaggcaggagaattgcttgaacccgggaggtggaggtttcagtgagccgagatcacaccactgcactccagcctgggcaacagagcaagactccgtctcaaaaaaagaaaagaaaaTGTCCTTATTACAGTCTCAGGTTTCTCTTGCCCTCTGTCATCCTAGCAGTGTGGATGGTTGGTTGGGATCTTCGTGTCCCGTCTCAGCACACTCGAGCTCTGAAGTGAAAGTGaggaagggcagggatgggggcacttgagcacaccgtgggccctctgacctcagacccaggctctgccccaccaagtgaccttgggcagggtaccttctctgagctttgtttcctccttggtaaaggcggataatagtgtctgccctgcACACAGATGTGGACGCAGAAGCACGTGGTGCCTGCCGGGCACAGGAGTGGTGCACAGGGCTCGCTGCTGTCGGGAGATTGATTGCTGTTGTGGAAACGGGAGGGTACTTACAGAATGAAGCACATTTTTTACATACAGTACAAATGAGTGTGTGCTTTTTAAATGGATTTAAAATTCAAATGCAAATCTGCAGTTTAATCTCCCAAGTGCTGATTTTTCTATGTATAAAGTAGGAGAGTGCAACAGCGTATCGGAATGAGGGGCTAGGGAGAACGTGTATGTGACCTCGAGTACCTGGCATGTAACAGACACTCAGTATTACACTCCTGCTatttctccagagcaggtgaaacagacggccaggaagcacacgaagagacactcagcatcactgcttgttaaggaaggtgcaaatcaaaaccacagtgagacgccacttcacacctacaagttcggctagatacaaaaagatcgcaacaagcgtttgcaaggatgtggagaaattggagccctcacacactgctggtggcaaagtggtaacacaggcaggcaggtcgtcaaaaagttaaacatgggccgggtgcaggtgtctcaagcctgtaatcccagcactttggaaggctgagacaggcagattgcttgagcccaggagttcacgaccagcctgggcaacctggtgagaccctgtctctacaaaaaatacagaacaattagctgggcatggtggtgcgtgcctgtgggcccagctactcggcgggctgaggcaggaggatcacttaagccccagaggtcaaggctgcagtaagccatggttgtgccactgcactccagcctgggcaactgagcaagaccctgtctcaaaaaaataaaaaaagataaacatggtgttaccatttgacccagcagtttcatacccaggagaattgaacgcatatgtccacatagaaactcgtacacagaagccaaaatgtggaaacccacgtgtccatcaacagatgaacggttaaacaaaatgtccatccatagaacggaatattattcagtcataaacagaatgaagtactgtaagtgaaaagccagttactacatattgtgtgattccatttatacggaatttctagaataggcacatccatagagacggattagtggttgcttaagactgggagggagggggaaataggaggtgacagctaatgggcagttttatttttgatgtaatgaaaatgtgcttacataaGCCGAGCAGGCATAAACAGAAAAAGTGCCCTAAGATTGTGATAATGGTACAATTCTGTCAATTGCATAATTGGTGGATGATGTGTGAATTATGTCTCTTAGGATAACAGCTTTACTGGCGTTACCAGAAAAAGATAAAATAATTACATTCCA |