Seroatlas · Human Serome Atlas

TBC1D7

TBC1 domain family member 7

Also known as: dJ257A7.3, FLJ32666, TBCD7_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9P0N9
Gene
TBC1D7
Ensembl
ENSG00000145979
Chromosome
6
Canonical length
293 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI Gene

This locus represents naturally occurring readthrough transcription between the neighboring TBC1D7 (TBC1 domain family member 7) gene and downstream uncharacterized LOC100130357 on chromosome 6. Readthrough transcripts may encode the same protein as TBC1 domain family member 7 or may be candidates for nonsense-mediated mRNA decay (NMD). [provided by RefSeq, Jan 2016]

Canonical amino-acid sequenceUniProt

293 residues, UniProt reviewed canonical sequence.

>Q9P0N9|TBC1D7
     1  MTEDSQRNFR SVYYEKVGFR GVEEKKSLEI LLKDDRLDTE KLCTFSQRFP LPSMYRALVW
    61  KVLLGILPPH HESHAKVMMY RKEQYLDVLH ALKVVRFVSD ATPQAEVYLR MYQLESGKLP
   121  RSPSFPLEPD DEVFLAIAKA MEEMVEDSVD CYWITRRFVN QLNTKYRDSL PQLPKAFEQY
   181  LNLEDGRLLT HLRMCSAAPK LPYDLWFKRC FAGCLPESSL QRVWDKVVSG SCKILVFVAV
   241  EILLTFKIKV MALNSAEKIT KFLENIPQDS SDAIVSKAID LWHKHCGTPV HSS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TBC1D7 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
Other membrane
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.28
Highest tissue expression
30 nTPM

Expression across tissuesHPA

Tissue

  • heart muscle: 30 nTPM
  • bone marrow: 25 nTPM
  • kidney: 22 nTPM
  • epididymis: 19 nTPM
  • cerebral cortex: 18 nTPM
  • liver: 17 nTPM

Single-cell type

  • neutrophils: 163 nCPM
  • renal collecting duct principal cells: 64 nCPM
  • syncytiotrophoblasts: 63 nCPM
  • melanocytes: 59 nCPM
  • monocytes: 59 nCPM
  • cytotrophoblasts: 52 nCPM

Immune cell

  • myeloid DC: 43 nTPM
  • neutrophil: 42 nTPM
  • plasmacytoid DC: 42 nTPM
  • basophil: 28 nTPM
  • eosinophil: 27 nTPM
  • classical monocyte: 22 nTPM

Brain region

  • cerebral cortex: 58 nTPM
  • white matter: 34 nTPM
  • basal ganglia: 33 nTPM
  • hippocampal formation: 31 nTPM
  • pons: 29 nTPM
  • amygdala: 28 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TBC1D7.

Disease | AllUniProt

Conditions TBC1D7 is implicated in, by any mechanism.

  • Macrocephaly/megalencephaly syndrome, autosomal recessive (MGCPH) MIM:248000

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 162 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Macrocephaly/megalencephaly syndrome, autosomal recessive

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)
1.61
gnomAD pLI
0
gnomAD missense Z
0.14
DepMap mean gene effect
0.12
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% 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 TBC1D7 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 TBC1D7 as an antibody target. Whether an autoantibody or antibody against TBC1D7 could matter depends on whether native TBC1D7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TBC1D7 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 TBC1D7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TBC1D7. 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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