ABTB1
Ankyrin repeat and BTB/POZ domain-containing protein 1
Also known as: ABTB1_HUMAN, BPOZ, Btb3, BTBD21, EF1ABP
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q969K4
- Gene
- ABTB1
- Ensembl
- ENSG00000114626
- Chromosome
- 3
- Canonical length
- 478 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoli,Cytosol
OverviewNCBI Gene
This gene encodes a protein with an ankyrin repeat region and two BTB/POZ domains, which are thought to be involved in protein-protein interactions. Expression of this gene is activated by the phosphatase and tensin homolog, a tumor suppressor. Alternate splicing results in three transcript variants. [provided by RefSeq, Mar 2010]
Canonical amino-acid sequenceUniProt
478 residues, UniProt reviewed canonical sequence.
>Q969K4|ABTB1
1 MDTSDLFASC RKGDVGRVRY LLEQRDVEVN VRDKWDSTPL YYACLCGHEE LVLYLLANGA
61 RCEANTFDGE RCLYGALSDP IRRALRDYKQ VTASCRRRDY YDDFLQRLLE QGIHSDVVFV
121 VHGKPFRVHR CVLGARSAYF ANMLDTKWKG KSVVVLRHPL INPVAFGALL QYLYTGRLDI
181 GVEHVSDCER LAKQCQLWDL LSDLEAKCEK VSEFVASKPG TCVKVLTIEP PPADPRLRED
241 MALLADCALP PELRGDLWEL PFPCPDGFNS CPDICFRVAG CSFLCHKAFF CGRSDYFRAL
301 LDDHFRESEE PATSGGPPAV TLHGISPDVF THVLYYMYSD HTELSPEAAY DVLSVADMYL
361 LPGLKRLCGR SLAQMLDEDT VVGVWRVAKL FRLARLEDQC TEYMAKVIEK LVEREDFVEA
421 VKEEAAAVAA RQETDSIPLV DDIRFHVAST VQTYSAIEEA QQRLRALEDL LVSIGLDCLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ABTB1 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)
- 0.28
- Highest tissue expression
- 101 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 101 nTPM
- spleen: 95 nTPM
- cerebral cortex: 51 nTPM
- bone marrow: 48 nTPM
- blood vessel: 47 nTPM
- skeletal muscle: 44 nTPM
Single-cell type
- neutrophils: 611 nCPM
- platelets: 176 nCPM
- neutrophil progenitors: 146 nCPM
- kupffer cells: 66 nCPM
- vascular smooth muscle cells: 54 nCPM
- monocytes: 50 nCPM
Immune cell
- neutrophil: 825 nTPM
- eosinophil: 162 nTPM
- classical monocyte: 65 nTPM
- intermediate monocyte: 48 nTPM
- T-reg: 47 nTPM
- total PBMC: 46 nTPM
Brain region
- cerebellum: 48 nTPM
- basal ganglia: 44 nTPM
- cerebral cortex: 42 nTPM
- hippocampal formation: 37 nTPM
- amygdala: 33 nTPM
- white matter: 33 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)
- 0.76
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.34
- DepMap mean gene effect
- 0.08
- 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
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- BTB/POZ domain
- Ankyrin repeat
- SKP1/BTB/POZ domain superfamily
- Ankyrin repeat-containing domain superfamily
- BTB/POZ domain
- Ankyrin repeats (3 copies)
- Ankyrin repeat and BTB/POZ domain-containing protein 1-like
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ABTB1 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 ABTB1 as an antibody target. Whether an autoantibody or antibody against ABTB1 could matter depends on whether native ABTB1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ABTB1 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 ABTB1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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