Seroatlas · Human Serome Atlas

TBC1D23

TBC1 domain family member 23

Also known as: FLJ11046, TBC23_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9NUY8
Gene
TBC1D23
Ensembl
ENSG00000036054
Chromosome
3
Canonical length
699 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Golgi apparatus

OverviewNCBI Gene

Involved in brain development; retrograde transport, endosome to Golgi; and vesicle tethering to Golgi. Located in WASH complex; cytoplasmic vesicle; and trans-Golgi network. Implicated in pontocerebellar hypoplasia type 11. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

699 residues, UniProt reviewed canonical sequence.

>Q9NUY8|TBC1D23
     1  MAEGEDVPPL PTSSGDGWEK DLEEALEAGG CDLETLRNII QGRPLPADLR AKVWKIALNV
    61  AGKGDSLASW DGILDLPEQN TIHKDCLQFI DQLSVPEEKA AELLLDIESV ITFYCKSRNI
   121  KYSTSLSWIH LLKPLVHLQL PRSDLYNCFY AIMNKYIPRD CSQKGRPFHL FRLLIQYHEP
   181  ELCSYLDTKK ITPDSYALNW LGSLFACYCS TEVTQAIWDG YLQQADPFFI YFLMLIILVN
   241  AKEVILTQES DSKEEVIKFL ENTPSSLNIE DIEDLFSLAQ YYCSKTPASF RKDNHHLFGS
   301  TLLGIKDDDA DLSQALCLAI SVSEILQANQ LQGEGVRFFV VDCRPAEQYN AGHLSTAFHL
   361  DSDLMLQNPS EFAQSVKSLL EAQKQSIESG SIAGGEHLCF MGSGREEEDM YMNMVLAHFL
   421  QKNKEYVSIA SGGFMALQQH LADINVDGPE NGYGHWIAST SGSRSSINSV DGESPNGSSD
   481  RGMKSLVNKM TVALKTKSVN VREKVISFIE NTSTPVDRMS FNLPWPDRSC TERHVSSSDR
   541  VGKPYRGVKP VFSIGDEEEY DTDEIDSSSM SDDDRKEVVN IQTWINKPDV KHHFPCKEVK
   601  ESGHMFPSHL LVTATHMYCL REIVSRKGLA YIQSRQALNS VVKITSKKKH PELITFKYGN
   661  SSASGIEILA IERYLIPNAG DATKAIKQQI MKVLDALES

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TBC1D23 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)
0.35
Highest tissue expression
22 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 22 nTPM
  • liver: 21 nTPM
  • placenta: 20 nTPM
  • small intestine: 17 nTPM
  • pancreas: 17 nTPM
  • duodenum: 17 nTPM

Single-cell type

  • neutrophils: 297 nCPM
  • myonuclei: 176 nCPM
  • syncytiotrophoblasts: 173 nCPM
  • neutrophil progenitors: 160 nCPM
  • esophageal apical cells: 130 nCPM
  • pancreatic acinar cells: 126 nCPM

Immune cell

  • basophil: 28 nTPM
  • non-classical monocyte: 25 nTPM
  • eosinophil: 23 nTPM
  • NK-cell: 22 nTPM
  • intermediate monocyte: 21 nTPM
  • myeloid DC: 19 nTPM

Brain region

  • cerebellum: 29 nTPM
  • white matter: 28 nTPM
  • medulla oblongata: 21 nTPM
  • thalamus: 21 nTPM
  • spinal cord: 21 nTPM
  • basal ganglia: 21 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TBC1D23.

Disease | AllUniProt

Conditions TBC1D23 is implicated in, by any mechanism.

Disease | GeneticClinVar

15 pathogenic / likely-pathogenic of 161 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.6
gnomAD pLI
0
gnomAD missense Z
1.89
DepMap mean gene effect
-0.15
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% 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 TBC1D23 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 TBC1D23 as an antibody target. Whether an autoantibody or antibody against TBC1D23 could matter depends on whether native TBC1D23 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TBC1D23 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 TBC1D23 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TBC1D23. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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