Seroatlas · Human Serome Atlas

TXNL4A

Thioredoxin-like protein 4A

Also known as: DIB1, DIM1, HsT161, SNRNP15, TXN4A_HUMAN, TXNL4, U5-15kD

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P83876
Gene: TXNL4A
Ensembl: ENSG00000141759
Chromosome: 18
Canonical length: 142 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

142 residues, UniProt reviewed canonical sequence.

>P83876|TXNL4A
     1  MSYMLPHLHN GWQVDQAILS EEDRVVVIRF GHDWDPTCMK MDEVLYSIAE KVKNFAVIYL
    61  VDITEVPDFN KMYELYDPCT VMFFFRNKHI MIDLGTGNNN KINWAMEDKQ EMVDIIETVY
   121  RGARKGRGLV VSPKDYSTKY RY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TXNL4A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.28
Highest tissue expression: 141 nTPM

Expression across tissuesHPA

Tissue

amygdala: 141 nTPM
midbrain: 129 nTPM
cerebral cortex: 121 nTPM
choroid plexus: 120 nTPM
hippocampal formation: 120 nTPM
hypothalamus: 105 nTPM

Single-cell type

megakaryocytes: 328 nCPM
late spermatids: 323 nCPM
early spermatids: 252 nCPM
late primary spermatocytes: 209 nCPM
breast lactating cells: 204 nCPM
esophageal basal cells: 194 nCPM

Immune cell

plasmacytoid DC: 31 nTPM
naive B-cell: 18 nTPM
T-reg: 17 nTPM
memory B-cell: 16 nTPM
NK-cell: 16 nTPM
gdT-cell: 15 nTPM

Brain region

white matter: 75 nTPM
hypothalamus: 74 nTPM
midbrain: 69 nTPM
cerebellum: 68 nTPM
hippocampal formation: 66 nTPM
choroid plexus: 66 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TXNL4A.

Disease | AllUniProt

Conditions TXNL4A is implicated in, by any mechanism.

Burn-McKeown syndrome (BMKS) MIM:608572

Disease | GeneticClinVar

11 pathogenic / likely-pathogenic of 42 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
TXNL4A-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.82
gnomAD pLI: 0
gnomAD missense Z: 2.77
DepMap mean gene effect: -2.22
DepMap dependency class: pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TXNL4A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TXNL4A as an antibody target. Whether an autoantibody or antibody against TXNL4A could matter depends on whether native TXNL4A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TXNL4A is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label TXNL4A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...