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Protein

Thioredoxin-like protein 4A

Gene

TXNL4A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Biological processi

  • cell cycle Source: UniProtKB-KW
  • cell division Source: UniProtKB-KW
  • mRNA splicing, via spliceosome Source: Reactome
  • RNA splicing, via transesterification reactions Source: UniProtKB
  • spliceosomal complex assembly Source: UniProtKB

Keywordsi

Biological processCell cycle, Cell division, Mitosis, mRNA processing, mRNA splicing

Enzyme and pathway databases

ReactomeiR-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72165 mRNA Splicing - Minor Pathway

Names & Taxonomyi

Protein namesi
Recommended name:
Thioredoxin-like protein 4A
Alternative name(s):
DIM1 protein homolog
Spliceosomal U5 snRNP-specific 15 kDa protein
Thioredoxin-like U5 snRNP protein U5-15kD
Gene namesi
Name:TXNL4A
Synonyms:DIM1, TXNL4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000141759.14
HGNCiHGNC:30551 TXNL4A
MIMi611595 gene
neXtProtiNX_P83876

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus, Spliceosome

Pathology & Biotechi

Involvement in diseasei

Burn-McKeown syndrome (BMKS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:608572

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi38C → A: Viable when expressed in S.pombe. 1 Publication1

Keywords - Diseasei

Deafness

Organism-specific databases

DisGeNETi10907
MalaCardsiTXNL4A
MIMi608572 phenotype
OpenTargetsiENSG00000141759
PharmGKBiPA134937290

Polymorphism and mutation databases

BioMutaiTXNL4A
DMDMi46577662

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002182871 – 142Thioredoxin-like protein 4AAdd BLAST142

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi38 ↔ 792 Publications
Modified residuei132PhosphoserineCombined sources1

Post-translational modificationi

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).2 Publications

Keywords - PTMi

Disulfide bond, Phosphoprotein

Proteomic databases

EPDiP83876
MaxQBiP83876
PaxDbiP83876
PeptideAtlasiP83876
PRIDEiP83876
ProteomicsDBi57740
TopDownProteomicsiP83876

PTM databases

iPTMnetiP83876
PhosphoSitePlusiP83876

Expressioni

Gene expression databases

BgeeiENSG00000141759
CleanExiHS_TXNL4A
ExpressionAtlasiP83876 baseline and differential
GenevisibleiP83876 HS

Organism-specific databases

HPAiHPA041324

Interactioni

Subunit structurei

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 CD2BP2.6 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi116113, 34 interactors
CORUMiP83876
IntActiP83876, 22 interactors
MINTiP83876
STRINGi9606.ENSP00000269601

Structurei

Secondary structure

1142
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi11 – 19Combined sources9
Beta strandi22 – 31Combined sources10
Helixi36 – 52Combined sources17
Turni53 – 55Combined sources3
Beta strandi56 – 62Combined sources7
Turni63 – 65Combined sources3
Turni68 – 71Combined sources4
Beta strandi80 – 85Combined sources6
Beta strandi88 – 93Combined sources6
Beta strandi95 – 97Combined sources3
Beta strandi102 – 104Combined sources3
Helixi109 – 123Combined sources15
Turni124 – 126Combined sources3
Beta strandi128 – 131Combined sources4

3D structure databases

ProteinModelPortaliP83876
SMRiP83876
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP83876

Family & Domainsi

Sequence similaritiesi

Belongs to the DIM1 family.Curated

Phylogenomic databases

eggNOGiKOG3414 Eukaryota
ENOG4111FE6 LUCA
GeneTreeiENSGT00390000010779
HOGENOMiHOG000198385
HOVERGENiHBG053996
InParanoidiP83876
KOiK12859
OMAiIYRGAKK
OrthoDBiEOG091G0QHA
PhylomeDBiP83876
TreeFamiTF313562

Family and domain databases

CDDicd02954 DIM1, 1 hit
InterProiView protein in InterPro
IPR004123 Dim1
IPR036249 Thioredoxin-like_sf
PANTHERiPTHR12052 PTHR12052, 1 hit
PfamiView protein in Pfam
PF02966 DIM1, 1 hit
PIRSFiPIRSF017199 mRNA_splic_U5, 1 hit
SMARTiView protein in SMART
SM01410 DIM1, 1 hit
SUPFAMiSSF52833 SSF52833, 1 hit

Sequencei

Sequence statusi: Complete.

P83876-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSYMLPHLHN GWQVDQAILS EEDRVVVIRF GHDWDPTCMK MDEVLYSIAE
60 70 80 90 100
KVKNFAVIYL VDITEVPDFN KMYELYDPCT VMFFFRNKHI MIDLGTGNNN
110 120 130 140
KINWAMEDKQ EMVDIIETVY RGARKGRGLV VSPKDYSTKY RY
Length:142
Mass (Da):16,786
Last modified:April 26, 2004 - v1
Checksum:iEDDDAD7ADAEE87F3
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF023611 mRNA Translation: AAB81950.1
AF146373 mRNA Translation: AAF17332.1
AK314901 mRNA Translation: BAG37415.1
CH471117 Genomic DNA Translation: EAW66640.1
BC001046 mRNA Translation: AAH01046.1
BC019272 mRNA Translation: AAH19272.1
CCDSiCCDS32852.1
RefSeqiNP_001290400.1, NM_001303471.2
NP_001292486.1, NM_001305557.1
NP_001292492.1, NM_001305563.1
NP_001292493.1, NM_001305564.1
NP_006692.1, NM_006701.4
UniGeneiHs.465498

Genome annotation databases

EnsembliENST00000269601; ENSP00000269601; ENSG00000141759
GeneIDi10907
KEGGihsa:10907
UCSCiuc002lnp.4 human

Similar proteinsi

Entry informationi

Entry nameiTXN4A_HUMAN
AccessioniPrimary (citable) accession number: P83876
Secondary accession number(s): B2RC18, O14834
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 26, 2004
Last sequence update: April 26, 2004
Last modified: July 18, 2018
This is version 145 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

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