Seroatlas · Human Serome Atlas

TBC1D4

TBC1 domain family member 4

Also known as: AS160, DKFZp779C0666, KIAA0603, TBCD4_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
O60343
Gene
TBC1D4
Ensembl
ENSG00000136111
Chromosome
13
Canonical length
1298 aa
Protein class
Disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location
Cytosol

OverviewNCBI Gene

This gene is a member of the Tre-2/BUB2/CDC16 domain family. The protein encoded by this gene is a Rab-GTPase-activating protein, and contains two phopshotyrosine-binding domains (PTB1 and PTB2), a calmodulin-binding domain (CBD), a Rab-GTPase domain, and multiple AKT phosphomotifs. This protein is thought to play an important role in glucose homeostasis by regulating the insulin-dependent trafficking of the glucose transporter 4 (GLUT4), important for removing glucose from the bloodstream into skeletal muscle and fat tissues. Reduced expression of this gene results in an increase in GLUT4 levels at the plasma membrane, suggesting that this protein is important in intracellular retention of GLUT4 under basal conditions. When exposed to insulin, this protein is phosphorylated, dissociates from GLUT4 vesicles, resulting in increased GLUT4 at the cell surface, and enhanced glucose transport. Phosphorylation of this protein by AKT is required for proper translocation of GLUT4 to the cell surface. Individuals homozygous for a mutation in this gene are at higher risk for type 2 diabetes and have higher levels of circulating glucose and insulin levels after glucose ingestion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

Canonical amino-acid sequenceUniProt

1298 residues, UniProt reviewed canonical sequence.

>O60343|TBC1D4
     1  MEPPSCIQDE PFPHPLEPEP GVSAQPGPGK PSDKRFRLWY VGGSCLDHRT TLPMLPWLMA
    61  EIRRRSQKPE AGGCGAPAAR EVILVLSAPF LRCVPAPGAG ASGGTSPSAT QPNPAVFIFE
   121  HKAQHISRFI HNSHDLTYFA YLIKAQPDDP ESQMACHVFR ATDPSQVPDV ISSIRQLSKA
   181  AMKEDAKPSK DNEDAFYNSQ KFEVLYCGKV TVTHKKAPSS LIDDCMEKFS LHEQQRLKIQ
   241  GEQRGPDPGE DLADLEVVVP GSPGDCLPEE ADGTDTHLGL PAGASQPALT SSRVCFPERI
   301  LEDSGFDEQQ EFRSRCSSVT GVQRRVHEGS QKSQPRRRHA SAPSHVQPSD SEKNRTMLFQ
   361  VGRFEINLIS PDTKSVVLEK NFKDISSCSQ GIKHVDHFGF ICRESPEPGL SQYICYVFQC
   421  ASESLVDEVM LTLKQAFSTA AALQSAKTQI KLCEACPMHS LHKLCERIEG LYPPRAKLVI
   481  QRHLSSLTDN EQADIFERVQ KMKPVSDQEE NELVILHLRQ LCEAKQKTHV HIGEGPSTIS
   541  NSTIPENATS SGRFKLDILK NKAKRSLTSS LENIFSRGAN RMRGRLGSVD SFERSNSLAS
   601  EKDYSPGDSP PGTPPASPPS SAWQTFPEED SDSPQFRRRA HTFSHPPSST KRKLNLQDGR
   661  AQGVRSPLLR QSSSEQCSNL SSVRRMYKES NSSSSLPSLH TSFSAPSFTA PSFLKSFYQN
   721  SGRLSPQYEN EIRQDTASES SDGEGRKRTS STCSNESLSV GGTSVTPRRI SWRQRIFLRV
   781  ASPMNKSPSA MQQQDGLDRN ELLPLSPLSP TMEEEPLVVF LSGEDDPEKI EERKKSKELR
   841  SLWRKAIHQQ ILLLRMEKEN QKLEASRDEL QSRKVKLDYE EVGACQKEVL ITWDKKLLNC
   901  RAKIRCDMED IHTLLKEGVP KSRRGEIWQF LALQYRLRHR LPNKQQPPDI SYKELLKQLT
   961  AQQHAILVDL GRTFPTHPYF SVQLGPGQLS LFNLLKAYSL LDKEVGYCQG ISFVAGVLLL
  1021  HMSEEQAFEM LKFLMYDLGF RKQYRPDMMS LQIQMYQLSR LLHDYHRDLY NHLEENEISP
  1081  SLYAAPWFLT LFASQFSLGF VARVFDIIFL QGTEVIFKVA LSLLSSQETL IMECESFENI
  1141  VEFLKNTLPD MNTSEMEKII TQVFEMDISK QLHAYEVEYH VLQDELQESS YSCEDSETLE
  1201  KLERANSQLK RQNMDLLEKL QVAHTKIQAL ESNLENLLTR ETKMKSLIRT LEQEKMAYQK
  1261  TVEQLRKLLP ADALVNCDLL LRDLNCNPNN KAKIGNKP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TBC1D4 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)
0.45
Highest tissue expression
78 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 78 nTPM
  • adrenal gland: 64 nTPM
  • tongue: 51 nTPM
  • ovary: 34 nTPM
  • lymph node: 32 nTPM
  • tonsil: 31 nTPM

Single-cell type

  • adrenal cortex cells: 1,168 nCPM
  • myonuclei: 961 nCPM
  • renal collecting duct intercalated cells: 793 nCPM
  • cardiomyocytes: 601 nCPM
  • loop of henle epithelial cells: 545 nCPM
  • pituicytes/fscs: 540 nCPM

Immune cell

  • T-reg: 25 nTPM
  • memory CD4 T-cell: 11 nTPM
  • naive CD4 T-cell: 10 nTPM
  • plasmacytoid DC: 9.9 nTPM
  • basophil: 5.1 nTPM
  • naive CD8 T-cell: 4.9 nTPM

Brain region

  • thalamus: 45 nTPM
  • pons: 36 nTPM
  • medulla oblongata: 33 nTPM
  • cerebral cortex: 33 nTPM
  • hypothalamus: 31 nTPM
  • amygdala: 29 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TBC1D4.

Disease | AllUniProt

Conditions TBC1D4 is implicated in, by any mechanism.

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)
0.92
gnomAD pLI
0
gnomAD missense Z
0.7
DepMap mean gene effect
0.19
DepMap dependency class
none

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TBC1D4 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 TBC1D4 as an antibody target. Whether an autoantibody or antibody against TBC1D4 could matter depends on whether native TBC1D4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TBC1D4 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 TBC1D4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TBC1D4. 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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