ABTB1

Ankyrin repeat and BTB/POZ domain-containing protein 1 is a protein that in humans is encoded by the ABTB1 gene.^[5][6][7]

ABTB1
Identifiers
Aliases	ABTB1, BPOZ, BTB3, BTBD21, EF1ABP, PP2259, ankyrin repeat and BTB domain containing 1
External IDs	OMIM: 608308; MGI: 1933148; HomoloGene: 32731; GeneCards: ABTB1; OMA:ABTB1 - orthologs
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3q21.3 Start 127,672,935 bp[1] End 127,680,926 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6|6 D1 Start 88,812,896 bp[2] End 88,818,966 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum granulocyte blood spleen apex of heart tibial nerve right lung gastric mucosa canal of the cervix monocyte Top expressed in granulocyte Jacobson's organ blood muscle of thigh neural layer of retina right kidney spermatocyte superior frontal gyrus lip proximal tubule More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding translation elongation factor activity ubiquitin protein ligase binding Cellular component plasma membrane nucleolus SCF ubiquitin ligase complex cytoplasm cytosol ubiquitin ligase complex Biological process translational elongation protein biosynthesis proteasome-mediated ubiquitin-dependent protein catabolic process regulation of proteolysis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 80325 80283 Ensembl ENSG00000114626 ENSMUSG00000030083 UniProt Q969K4 Q99LJ2 RefSeq (mRNA) NM_032548 NM_172027 NM_172028 NM_030251 NM_001362152 RefSeq (protein) NP_115937 NP_742024 NP_084527 NP_001349081 Location (UCSC) Chr 3: 127.67 – 127.68 Mb Chr 6: 88.81 – 88.82 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Function

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 encoding different isoforms.^[7]