TXNL4A
entrez
10907
canonical
uniprot
P83876
canonical
ensembl
ENSG00000141759
resolver
ensp
ENSP00000269601
resolver
ensp
ENSP00000465493
resolver
ensp
ENSP00000465572
resolver
ensp
ENSP00000468761
resolver
ensp
ENSP00000790866
resolver
enst
ENST00000269601
resolver
enst
ENST00000585474
resolver
enst
ENST00000592837
resolver
enst
ENST00000592957
resolver
genesymbol
TXNL4A
resolver
genesymbol_syn
DIM1
resolver
genesymbol_syn
TXNL4
resolver
hgnc
HGNC:30551
resolver
uniprot
B2RC18
resolver
uniprot
K7ESL1
resolver
uniprot
O14834
resolver
uniprot_entry
K7ESL1_HUMAN
resolver
uniprot_entry
TXN4A_HUMAN
resolver
uniprot_sec
B2RC18
resolver
uniprot_sec
O14834
resolver
amino_acid_sequence
MSYMLPHLHNGWQVDQAILSEEDRVVVIRFGHDWDPTCMKMDEVLYSIAEKVKNFAVIYLVDITEVPDFNKMYELYDPCTVMFFFRNKHIMIDLGTGNNNKINWAMEDKQEMVDIIETVYRGARKGRGLVVSPKDYSTKYRY
uniprot
proteins
disease_involvement
DISEASE: 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 variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in pre-mRNA splicing as component of the U5 snRNP and U4/U6-U5 tri-snRNP complexes that are involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex). {ECO:0000269|PubMed:28781166, ECO:0000305|PubMed:10610776, ECO:0000305|PubMed:26912367}.
uniprot
proteins
mass_dalton
16786
uniprot
proteins
mutagenesis
MUTAGEN 38; /note="C->A: Viable when expressed in S.pombe."; /evidence="ECO:0000269|PubMed:11015569
uniprot
proteins
post_translational_modification
PTM: 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, PubMed:17467737). {ECO:0000269|PubMed:10610776, ECO:0000269|PubMed:12911302}.
uniprot
proteins
protein_family
DIM1 family
uniprot
proteins
pubmed
10610776
uniprot
proteins
pubmed
11015569
uniprot
proteins
pubmed
11054566
uniprot
proteins
pubmed
12911302
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16723661
uniprot
proteins
pubmed
17467737
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20858735
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24781215
uniprot
proteins
pubmed
25434003
uniprot
proteins
pubmed
26912367
uniprot
proteins
pubmed
28781166
uniprot
proteins
sequence_length
142
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10610776, ECO:0000269|PubMed:11054566, ECO:0000269|PubMed:20858735, ECO:0000269|PubMed:26912367, ECO:0000269|PubMed:28781166}.
uniprot
proteins