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

    Gene ID: 80325, updated on 2-Nov-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
    mouse all
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    Genomic context

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    See ABTB1 in Genome Data Viewer
    Location:
    3q21.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (127672952..127680926)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (130407613..130415593)
    RS_2024_09 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. 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
    4. MiR-4319 suppresses colorectal cancer progression by targeting ABTB1. Huang L, et al. United European Gastroenterol J, 2019 May. PMID 31065369, Free PMC Article
    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 (31) 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)

    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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