Seroatlas · Human Serome Atlas

TBL1XR1

F-box-like/WD repeat-containing protein TBL1XR1

Also known as: C21, DC42, FLJ12894, IRA1, TBL1R_HUMAN, TBLR1

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

Protein identityUniProt · HPA

UniProt accession: Q9BZK7
Gene: TBL1XR1
Ensembl: ENSG00000177565
Chromosome: 3
Canonical length: 514 aa
Protein class: Cancer-related genes, Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

This gene is a member of the WD40 repeat-containing gene family and shares sequence similarity with transducin (beta)-like 1X-linked (TBL1X). The protein encoded by this gene is thought to be a component of both nuclear receptor corepressor (N-CoR) and histone deacetylase 3 (HDAC 3) complexes, and is required for transcriptional activation by a variety of transcription factors. Mutations in these gene have been associated with some autism spectrum disorders, and one finding suggests that haploinsufficiency of this gene may be a cause of intellectual disability with dysmorphism. Mutations in this gene as well as recurrent translocations involving this gene have also been observed in some tumors. [provided by RefSeq, Mar 2016]

Canonical amino-acid sequenceUniProt

514 residues, UniProt reviewed canonical sequence.

>Q9BZK7|TBL1XR1
     1  MSISSDEVNF LVYRYLQESG FSHSAFTFGI ESHISQSNIN GALVPPAALI SIIQKGLQYV
    61  EAEVSINEDG TLFDGRPIES LSLIDAVMPD VVQTRQQAYR DKLAQQQAAA AAAAAAAASQ
   121  QGSAKNGENT ANGEENGAHT IANNHTDMME VDGDVEIPPN KAVVLRGHES EVFICAWNPV
   181  SDLLASGSGD STARIWNLSE NSTSGSTQLV LRHCIREGGQ DVPSNKDVTS LDWNSEGTLL
   241  ATGSYDGFAR IWTKDGNLAS TLGQHKGPIF ALKWNKKGNF ILSAGVDKTT IIWDAHTGEA
   301  KQQFPFHSAP ALDVDWQSNN TFASCSTDMC IHVCKLGQDR PIKTFQGHTN EVNAIKWDPT
   361  GNLLASCSDD MTLKIWSMKQ DNCVHDLQAH NKEIYTIKWS PTGPGTNNPN ANLMLASASF
   421  DSTVRLWDVD RGICIHTLTK HQEPVYSVAF SPDGRYLASG SFDKCVHIWN TQTGALVHSY
   481  RGTGGIFEVC WNAAGDKVGA SASDGSVCVL DLRK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TBL1XR1 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): 0.29
Highest tissue expression: 40 nTPM

Expression across tissuesHPA

Tissue

thyroid gland: 40 nTPM
thymus: 39 nTPM
retina: 38 nTPM
tonsil: 32 nTPM
heart muscle: 28 nTPM
colon: 27 nTPM

Single-cell type

prostatic glandular cells: 852 nCPM
endometrial luminal cells: 630 nCPM
neutrophil progenitors: 621 nCPM
neutrophils: 612 nCPM
endometrial glandular cells: 561 nCPM
papillary tip epithelial cells: 558 nCPM

Immune cell

basophil: 10 nTPM
plasmacytoid DC: 10 nTPM
neutrophil: 9.1 nTPM
T-reg: 6.2 nTPM
memory B-cell: 5.9 nTPM
memory CD8 T-cell: 5.9 nTPM

Brain region

cerebral cortex: 102 nTPM
cerebellum: 100 nTPM
white matter: 100 nTPM
hippocampal formation: 99 nTPM
basal ganglia: 97 nTPM
spinal cord: 94 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TBL1XR1.

Disease | AllUniProt

Conditions TBL1XR1 is implicated in, by any mechanism.

Pierpont syndrome (PRPTS) MIM:602342
Intellectual developmental disorder, autosomal dominant 41 (MRD41) MIM:616944

Disease | GeneticClinVar

114 pathogenic / likely-pathogenic of 705 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Pierpont syndrome
Intellectual disability, autosomal dominant 41
TBL1XR1-related disorder
Inborn genetic diseases
Intellectual disability

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): 0.11
gnomAD pLI: 1
gnomAD missense Z: 4.2
DepMap mean gene effect: -0.39
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 15% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TBL1XR1 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 TBL1XR1 as an antibody target. Whether an autoantibody or antibody against TBL1XR1 could matter depends on whether native TBL1XR1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TBL1XR1 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 TBL1XR1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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