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ABTB1 ankyrin repeat and BTB domain containing 1 [ Homo sapiens (human) ]

Gene ID: 80325, updated on 3-Apr-2024

Summary

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Official Symbol
ABTB1provided by HGNC
Official Full Name
ankyrin repeat and BTB domain containing 1provided by HGNC
Primary source
HGNC:HGNC:18275
See related
Ensembl:ENSG00000114626 MIM:608308; AllianceGenome:HGNC:18275
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BPOZ; BTB3; BPOZ-2; BTBD21; EF1ABP; PP2259
Summary
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]
Expression
Ubiquitous expression in spleen (RPKM 23.0), bone marrow (RPKM 13.1) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
3q21.3
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (127672952..127680926)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (130407613..130415593)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (127391795..127399769)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986126 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14692 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14693 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20458 Neighboring gene minichromosome maintenance complex component 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:127357688-127358188 Neighboring gene podocalyxin like 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:127386638-127386819 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14695 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14694 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:127401604-127402139 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20459 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:127408045-127408550 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:127408551-127409056 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:127420713-127421460 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:127421461-127422206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:127425278-127425778 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:127425995-127426138 Neighboring gene monoglyceride lipase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:127452841-127453756 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:127456818-127457380 Neighboring gene uncharacterized LOC107986127 Neighboring gene MGLL intron CAGE-defined high expression enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20463 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20464 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:127472805-127474004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20469 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20471 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20472 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20473 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:127509215-127509818 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:127509819-127510421 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:127536190-127537389 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14697 Neighboring gene uncharacterized LOC107986129 Neighboring gene uncharacterized LOC105374096

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Molecular cloning and characterization of a novel human gene containing ankyrin repeat and double BTB/POZ domain. Dai KS, et al. Biochem Biophys Res Commun, 2000 Jul 14. PMID 10891360
  2. TdT interacting factor 1 enhances TdT ubiquitylation through recruitment of BPOZ-2 into nucleus from cytoplasm. Hayano T, et al. Genes Cells, 2009 Dec. PMID 19930467
  3. MiR-4319 suppresses colorectal cancer progression by targeting ABTB1. Huang L, et al. United European Gastroenterol J, 2019 May. PMID 31065369, Free PMC Article
  4. BPOZ-2 directly binds to eEF1A1 to promote eEF1A1 ubiquitylation and degradation and prevent translation. Koiwai K, et al. Genes Cells, 2008 Jun. PMID 18459963
  5. Growth-suppressive effects of BPOZ and EGR2, two genes involved in the PTEN signaling pathway. Unoki M, et al. Oncogene, 2001 Jul 27. PMID 11494141

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Study demonstrates that miR-4319 is expressed at a low level in colorectal cancer (CRC) tissues, which predicts the poor clinical outcome of CRC. MiR-4319 regulates the proliferation, cell cycle, invasion and migration of CRC cells. Mechanically, miR-4319 is found to be transcriptionally regulated by PLZF, and acts as a tumour suppressor in CRC by targeting ABTB1.
    Title: MiR-4319 suppresses colorectal cancer progression by targeting ABTB1.
  2. BPOZ-2 promoted eEF1A1 ubiquitylation and degradation, suggesting that eEF1A1 is a substrate of BPOZ-2.
    Title: BPOZ-2 directly binds to eEF1A1 to promote eEF1A1 ubiquitylation and degradation and prevent translation.
  3. Study showed that BPOZ-2 is a human counterpart of yeast Btb3p, which is a putative adaptor for Pcu3p-based ubiquitin ligase; BPOZ-2 bound to E3 ligase CUL3 in vitro and in vivo.
    Title: Bood POZ containing gene type 2 is a human counterpart of yeast Btb3p and promotes the degradation of terminal deoxynucleotidyltransferase.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of ankyrin repeat and BTB domain containing 1 (ABTB1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC20585

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables translation elongation factor activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in translational elongation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  
part_of ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
ankyrin repeat and BTB/POZ domain-containing protein 1
Names
ankyrin repeat and BTB (POZ) domain containing 1
elongation factor 1A-binding protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029479.1 RefSeqGene

    Range
    5015..12989
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_032548.4 → NP_115937.1  ankyrin repeat and BTB/POZ domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_115937.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as BPOZ type 1) contains an alternate exon in its 5' UTR, and uses a downstream in-frame start codon, compared to variant 2. The encoded isoform (1) has a shorter N-terminus, compared to isoform 2, and it lacks the ankyrin repeat region.
    Source sequence(s)
    AB053324, AI337369, BF664138, BM671027
    Consensus CDS
    CCDS46901.1
    UniProtKB/TrEMBL
    B2RCJ9
    Related
    ENSP00000412684.2, ENST00000453791.6
    Conserved Domains (3) summary
    smart00225
    Location:131 → 234
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00651
    Location:131 → 230
    BTB; BTB/POZ domain
    cl02518
    Location:8 → 68
    BTB; BTB/POZ domain

  2. NM_172027.3 → NP_742024.1  ankyrin repeat and BTB/POZ domain-containing protein 1 isoform 2

    See identical proteins and their annotated locations for NP_742024.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as BPOZ type 2) encodes the longer isoform (2).
    Source sequence(s)
    AB053325, AI337369, BF664138, BM671027
    Consensus CDS
    CCDS3045.1
    UniProtKB/Swiss-Prot
    D3DNB0, Q6ZNU9, Q71MF1, Q969K4, Q96S62, Q96S63
    Related
    ENSP00000232744.8, ENST00000232744.13
    Conserved Domains (4) summary
    smart00225
    Location:273 → 376
    BTB; Broad-Complex, Tramtrack and Bric a brac
    cd00204
    Location:6 → 78
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:35 → 66
    ANK; ANK repeat [structural motif]
    pfam00651
    Location:105 → 178
    BTB; BTB/POZ domain

RNA

  1. NR_033429.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3, also known as BPOZ type 3) uses an alternate splice site in an internal exon, compared to variant 2. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AB053326, AI337369, BF664138, BM671027
    Related
    ENST00000475042.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    127672952..127680926
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713769.4 → XP_006713832.1  ankyrin repeat and BTB/POZ domain-containing protein 1 isoform X1

    Conserved Domains (5) summary
    smart00225
    Location:275 → 378
    BTB; Broad-Complex, Tramtrack and Bric a brac
    cd00204
    Location:3 → 78
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam00651
    Location:107 → 212
    BTB; BTB/POZ domain
    pfam13857
    Location:23 → 78
    Ank_5; Ankyrin repeats (many copies)
    sd00045
    Location:37 → 68
    ANK; ANK repeat [structural motif]

  2. XM_017007285.2 → XP_016862774.1  ankyrin repeat and BTB/POZ domain-containing protein 1 isoform X2

  3. XM_017007286.3 → XP_016862775.1  ankyrin repeat and BTB/POZ domain-containing protein 1 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    130407613..130415593
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054348018.1 → XP_054203993.1  ankyrin repeat and BTB/POZ domain-containing protein 1 isoform X1

  2. XM_054348019.1 → XP_054203994.1  ankyrin repeat and BTB/POZ domain-containing protein 1 isoform X2

  3. XM_054348020.1 → XP_054203995.1  ankyrin repeat and BTB/POZ domain-containing protein 1 isoform X3

  4. XM_054348022.1 → XP_054203997.1  ankyrin repeat and BTB/POZ domain-containing protein 1 isoform X4

  5. XM_054348021.1 → XP_054203996.1  ankyrin repeat and BTB/POZ domain-containing protein 1 isoform X4

RNA

  1. XR_008486809.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_172028.1: Suppressed sequence

    Description
    NM_172028.1: This RefSeq was permanently suppressed because currently there is insufficient support for the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q969K4.1 GenPept UniProtKB/Swiss-Prot:Q969K4

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