TBC1D1
TBC1 domain family member 1
Also known as: KIAA1108, TBC, TBC1, TBCD1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q86TI0
- Gene
- TBC1D1
- Ensembl
- ENSG00000065882
- Chromosome
- 4
- Canonical length
- 1168 aa
- Protein class
- Predicted intracellular proteins, Transporters
- Subcellular location
- Nucleoli
OverviewNCBI Gene
TBC1D1 is the founding member of a family of proteins sharing a 180- to 200-amino acid TBC domain presumed to have a role in regulating cell growth and differentiation. These proteins share significant homology with TRE2 (USP6; MIM 604334), yeast Bub2, and CDC16 (MIM 603461) (White et al., 2000 [PubMed 10965142]).[supplied by OMIM, Mar 2008]
Canonical amino-acid sequenceUniProt
1168 residues, UniProt reviewed canonical sequence.
>Q86TI0|TBC1D1
1 MEPITFTARK HLLSNEVSVD FGLQLVGSLP VHSLTTMPML PWVVAEVRRL SRQSTRKEPV
61 TKQVRLCVSP SGLRCEPEPG RSQQWDPLIY SSIFECKPQR VHKLIHNSHD PSYFACLIKE
121 DAVHRQSICY VFKADDQTKV PEIISSIRQA GKIARQEELH CPSEFDDTFS KKFEVLFCGR
181 VTVAHKKAPP ALIDECIEKF NHVSGSRGSE SPRPNPPHAA PTGSQEPVRR PMRKSFSQPG
241 LRSLAFRKEL QDGGLRSSGF FSSFEESDIE NHLISGHNIV QPTDIEENRT MLFTIGQSEV
301 YLISPDTKKI ALEKNFKEIS FCSQGIRHVD HFGFICRESS GGGGFHFVCY VFQCTNEALV
361 DEIMMTLKQA FTVAAVQQTA KAPAQLCEGC PLQSLHKLCE RIEGMNSSKT KLELQKHLTT
421 LTNQEQATIF EEVQKLRPRN EQRENELIIS FLRCLYEEKQ KEHIHIGEMK QTSQMAAENI
481 GSELPPSATR FRLDMLKNKA KRSLTESLES ILSRGNKARG LQEHSISVDL DSSLSSTLSN
541 TSKEPSVCEK EALPISESSF KLLGSSEDLS SDSESHLPEE PAPLSPQQAF RRRANTLSHF
601 PIECQEPPQP ARGSPGVSQR KLMRYHSVST ETPHERKDFE SKANHLGDSG GTPVKTRRHS
661 WRQQIFLRVA TPQKACDSSS RYEDYSELGE LPPRSPLEPV CEDGPFGPPP EEKKRTSREL
721 RELWQKAILQ QILLLRMEKE NQKLQASEND LLNKRLKLDY EEITPCLKEV TTVWEKMLST
781 PGRSKIKFDM EKMHSAVGQG VPRHHRGEIW KFLAEQFHLK HQFPSKQQPK DVPYKELLKQ
841 LTSQQHAILI DLGRTFPTHP YFSAQLGAGQ LSLYNILKAY SLLDQEVGYC QGLSFVAGIL
901 LLHMSEEEAF KMLKFLMFDM GLRKQYRPDM IILQIQMYQL SRLLHDYHRD LYNHLEEHEI
961 GPSLYAAPWF LTMFASQFPL GFVARVFDMI FLQGTEVIFK VALSLLGSHK PLILQHENLE
1021 TIVDFIKSTL PNLGLVQMEK TINQVFEMDI AKQLQAYEVE YHVLQEELID SSPLSDNQRM
1081 DKLEKTNSSL RKQNLDLLEQ LQVANGRIQS LEATIEKLLS SESKLKQAML TLELERSALL
1141 QTVEELRRRS AEPSDREPEC TQPEPTGDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TBC1D1 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)
- 0.42
- Highest tissue expression
- 137 nTPM
Expression across tissuesHPA
Tissue
- tongue: 137 nTPM
- parathyroid gland: 123 nTPM
- endometrium: 117 nTPM
- colon: 101 nTPM
- skeletal muscle: 99 nTPM
- smooth muscle: 86 nTPM
Single-cell type
- neutrophils: 996 nCPM
- renal collecting duct intercalated cells: 835 nCPM
- vascular smooth muscle cells: 621 nCPM
- salivary ionocytes: 465 nCPM
- podocytes: 426 nCPM
- renal connecting tubule cells: 421 nCPM
Immune cell
- non-classical monocyte: 22 nTPM
- eosinophil: 20 nTPM
- intermediate monocyte: 18 nTPM
- neutrophil: 17 nTPM
- NK-cell: 8.7 nTPM
- naive B-cell: 8.1 nTPM
Brain region
- choroid plexus: 126 nTPM
- hippocampal formation: 91 nTPM
- amygdala: 80 nTPM
- cerebral cortex: 76 nTPM
- basal ganglia: 75 nTPM
- medulla oblongata: 75 nTPM
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)
- 0.7
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.75
- DepMap mean gene effect
- -0.12
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of TBC1D1 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 TBC1D1 as an antibody target. Whether an autoantibody or antibody against TBC1D1 could matter depends on whether native TBC1D1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TBC1D1 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 TBC1D1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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