BTBD8
BTB/POZ domain-containing protein 8
Also known as: APache, BTBD8_HUMAN, KIAA1107
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q5XKL5
- Gene
- BTBD8
- Ensembl
- ENSG00000189195
- Chromosome
- 1
- Canonical length
- 1792 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
Predicted to be involved in synaptic vesicle budding from endosome and synaptic vesicle endocytosis. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
1792 residues, UniProt reviewed canonical sequence.
>Q5XKL5|BTBD8
1 MARCGEGSAA PMVLLGSAGV CSKGLQRKGP CERRRLKATV SEQLSQDLLR LLREEFHTDV
61 TFSVGCTLFK AHKAVLLARV PDFYFHTIGQ TSNSLTNQEP IAVENVEALE FRTFLQIIYS
121 SNRNIKNYEE EILRKKIMEI GISQKQLDIS FPKCENSSDC SLQKHEIPED ISDRDDDFIS
181 NDNYDLEPAS ELGEDLLKLY VKPCCPDIDI FVDGKRFKAH RAILSARSSY FAAMLSGCWA
241 ESSQEYVTLQ GISHVELNVM MHFIYGGTLD IPDKTNVGQI LNMADMYGLE GLKEVAIYIL
301 RRDYCNFFQK PVPRTLTSIL ECLIIAHSVG VESLFADCMK WIVKHFARFW SERSFANIPP
361 EIQKSCLNML IQSLNDKNAA FLLMESDRLI ISLPRVKWTE AALTMASQLQ EKCIAFIVDN
421 FSKIIQSENF ALLLQSQAMS STADLLDTIL KAIEENITTE NSCSLLMALD TLLNSDSTKE
481 MGFTCKIQAL RDKLWIFLVQ SFYAVRHTES WKLMSTDDQQ KIQAAAFDKG DDRRLGKKPI
541 FSSSQQRKQV SDSGDIKIKS WRGNNKKECW SYLSTNKKMK SDGLGASGHS SSTNRNSINK
601 TLKQDDVKEK DGTKIASKIT KELKTGGKNV SGKPKTVTKS KTENGDKARL ENMSPRQVVE
661 RSATAAAAAT GQKNLLNGKG VRNQEGQISG ARPKVLTGNL NVQAKAKPLK KATGKDSPCL
721 SIAGPSSRST DSSMEFSIST ECLDEPKENG STEEEKPSGH KLSFCDSPGQ MMKNSVDSVK
781 NSTVAIKSRP VSRVTNGTSN KKSIHEQDTN VNNSVLKKVS GKGCSEPVPQ AILKKRGTSN
841 GCTAAQQRTK STPSNLTKTQ GSQGESPNSV KSSVSSRQSD ENVAKLDHNT TTEKQAPKRK
901 MVKQVHTALP KVNAKIVAMP KNLNQSKKGE TLNNKDSKQK MPPGQVISKT QPSSQRPLKH
961 ETSTVQKSMF HDVRDNNNKD SVSEQKPHKP LINLASEISD AEALQSSCRP DPQKPLNDQE
1021 KEKLALECQN ISKLDKSLKH ELESKQICLD KSETKFPNHK ETDDCDAANI CCHSVGSDNV
1081 NSKFYSTTAL KYMVSNPNEN SLNSNPVCDL DSTSAGQIHL ISDRENQVGR KDTNKQSSIK
1141 CVEDVSLCNP ERTNGTLNSA QEDKKSKVPV EGLTIPSKLS DESAMDEDKH ATADSDVSSK
1201 CFSGQLSEKN SPKNMETSES PESHETPETP FVGHWNLSTG VLHQRESPES DTGSATTSSD
1261 DIKPRSEDYD AGGSQDDDGS NDRGISKCGT MLCHDFLGRS SSDTSTPEEL KIYDSNLRIE
1321 VKMKKQSNND LFQVNSTSDD EIPRKRPEIW SRSAIVHSRE RENIPRGSVQ FAQEIDQVSS
1381 SADETEDERS EAENVAENFS ISNPAPQQFQ GIINLAFEDA TENECREFSA TKKFKRSVLL
1441 SVDECEELGS DEGEVHTPFQ ASVDSFSPSD VFDGISHEHH GRTCYSRFSR ESEDNILECK
1501 QNKGNSVCKN ESTVLDLSSI DSSRKNKQSV SATEKKNTID VLSSRSRQLL REDKKVNNGS
1561 NVENDIQQRS KFLDSDVKSQ ERPCHLDLHQ REPNSDIPKN SSTKSLDSFR SQVLPQEGPV
1621 KESHSTTTEK ANIALSAGDI DDCDTLAQTR MYDHRPSKTL SPIYEMDVIE AFEQKVESET
1681 HVTDMDFEDD QHFAKQDWTL LKQLLSEQDS NLDVTNSVPE DLSLAQYLIN QTLLLARDSS
1741 KPQGITHIDT LNRWSELTSP LDSSASITMA SFSSEDCSPQ GEWTILELET QHLocalizationUniProt · AlphaFold · HPA
Whether an antibody against BTBD8 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)
- 0.57
- Highest tissue expression
- 17 nTPM
Expression across tissuesHPA
Tissue
- retina: 17 nTPM
- cerebral cortex: 13 nTPM
- cerebellum: 8.5 nTPM
- basal ganglia: 6 nTPM
- testis: 4.8 nTPM
- amygdala: 4.1 nTPM
Single-cell type
- retinal bipolar cells: 212 nCPM
- retinal amacrine cells: 197 nCPM
- brain inhibitory neurons: 141 nCPM
- somatotrophs: 120 nCPM
- retinal ganglion cells: 116 nCPM
- oligodendrocytes: 113 nCPM
Immune cell
- naive CD4 T-cell: 0.3 nTPM
- gdT-cell: 0.2 nTPM
- naive CD8 T-cell: 0.2 nTPM
- MAIT T-cell: 0.1 nTPM
- memory B-cell: 0.1 nTPM
- memory CD4 T-cell: 0.1 nTPM
Brain region
- cerebral cortex: 53 nTPM
- white matter: 38 nTPM
- cerebellum: 38 nTPM
- basal ganglia: 33 nTPM
- pons: 28 nTPM
- thalamus: 25 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)
- 1.13
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.44
- DepMap mean gene effect
- -0.09
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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
- BTB/POZ domain
- SKP1/BTB/POZ domain superfamily
- BTB/POZ domain-containing protein 8, C-terminal
- BTB/POZ domain
- BTB/POZ domain-containing protein 8, C-terminal
- BTB/POZ domain-containing protein 8, BTB/POZ domain 1
- BTBD8, BACK domain
- BTBD8, BACK domain
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads BTBD8 as an antibody target. Whether an autoantibody or antibody against BTBD8 could matter depends on whether native BTBD8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
BTBD8 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 BTBD8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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