Seroatlas · Human Serome Atlas

BTBD1

BTB/POZ domain-containing protein 1

Also known as: BTBD1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9H0C5
Gene: BTBD1
Ensembl: ENSG00000064726
Chromosome: 15
Canonical length: 482 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol,Cytoplasmic bodies

OverviewNCBI Gene

The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

482 residues, UniProt reviewed canonical sequence.

>Q9H0C5|BTBD1
     1  MASLGPAAAG EQASGAEAEP GPAGPPPPPS PSSLGPLLPL QREPLYNWQA TKASLKERFA
    61  FLFNSELLSD VRFVLGKGRG AAAAGGPQRI PAHRFVLAAG SAVFDAMFNG GMATTSAEIE
   121  LPDVEPAAFL ALLRFLYSDE VQIGPETVMT TLYTAKKYAV PALEAHCVEF LTKHLRADNA
   181  FMLLTQARLF DEPQLASLCL DTIDKSTMDA ISAEGFTDID IDTLCAVLER DTLSIRESRL
   241  FGAVVRWAEA ECQRQQLPVT FGNKQKVLGK ALSLIRFPLM TIEEFAAGPA QSGILSDREV
   301  VNLFLHFTVN PKPRVEYIDR PRCCLRGKEC CINRFQQVES RWGYSGTSDR IRFTVNRRIS
   361  IVGFGLYGSI HGPTDYQVNI QIIEYEKKQT LGQNDTGFSC DGTANTFRVM FKEPIEILPN
   421  VCYTACATLK GPDSHYGTKG LKKVVHETPA ASKTVFFFFS SPGNNNGTSI EDGQIPEIIF
   481  YT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BTBD1 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): 0.31
Highest tissue expression: 304 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 304 nTPM
tongue: 216 nTPM
heart muscle: 100 nTPM
testis: 55 nTPM
cerebral cortex: 48 nTPM
parathyroid gland: 44 nTPM

Single-cell type

myonuclei: 221 nCPM
thymic myoid cells: 159 nCPM
fallopian tube ciliated cells: 102 nCPM
microglia: 100 nCPM
respiratory ciliated cells: 99 nCPM
ocular epithelial cells: 95 nCPM

Immune cell

eosinophil: 5.7 nTPM
myeloid DC: 5.2 nTPM
non-classical monocyte: 4.2 nTPM
memory CD8 T-cell: 4 nTPM
naive B-cell: 3.4 nTPM
naive CD4 T-cell: 3.3 nTPM

Brain region

thalamus: 69 nTPM
white matter: 66 nTPM
spinal cord: 63 nTPM
hypothalamus: 62 nTPM
midbrain: 56 nTPM
hippocampal formation: 56 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BTBD1.

Disease | ImmuneIEDB

Conditions an epitope on BTBD1 was assayed in.

glioblastoma T cell

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): 0.79
gnomAD pLI: 0
gnomAD missense Z: 1.42
DepMap mean gene effect: -0.02
DepMap dependency class: selective

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 BTBD1 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 BTBD1 as an antibody target. Whether an autoantibody or antibody against BTBD1 could matter depends on whether native BTBD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BTBD1 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 BTBD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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