Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 80325, updated on 8-Apr-2018
    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; Vega:OTTHUMG00000159636
    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; 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
    Location:
    3q21.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (127672928..127680926)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (127391781..127399769)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986126 Neighboring gene minichromosome maintenance complex component 2 Neighboring gene podocalyxin like 2 Neighboring gene monoglyceride lipase Neighboring gene uncharacterized LOC107986127 Neighboring gene MGLL intron CAGE-defined high expression enhancer Neighboring gene uncharacterized LOC107986129 Neighboring gene uncharacterized LOC105374096

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC20585

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    translation elongation factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    ubiquitin protein ligase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    translational elongation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    SCF ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    nucleolus IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    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

    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
      5001..12989
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_032548.3NP_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/Swiss-Prot
      Q969K4
      Related
      ENSP00000412684.2, OTTHUMP00000216042, ENST00000453791.6, OTTHUMT00000356598
      Conserved Domains (3) summary
      smart00225
      Location:131234
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam00651
      Location:131230
      BTB; BTB/POZ domain
      cl02518
      Location:868
      BTB; BTB/POZ domain
    2. NM_172027.2NP_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
      Q969K4
      Related
      ENSP00000232744.8, OTTHUMP00000216041, ENST00000232744.12, OTTHUMT00000356595
      Conserved Domains (4) summary
      smart00225
      Location:273376
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd00204
      Location:678
      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:3566
      ANK; ANK repeat [structural motif]
      pfam00651
      Location:105178
      BTB; BTB/POZ domain

    RNA

    1. NR_033429.1 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, OTTHUMT00000356599

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

      Range
      127672928..127680926
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017007288.1XP_016862777.1  ankyrin repeat and BTB/POZ domain-containing protein 1 isoform X7

      Conserved Domains (2) summary
      smart00225
      Location:92195
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam00651
      Location:92191
      BTB; BTB/POZ domain
    2. XM_017007286.2XP_016862775.1  ankyrin repeat and BTB/POZ domain-containing protein 1 isoform X5

    3. XM_024453783.1XP_024309551.1  ankyrin repeat and BTB/POZ domain-containing protein 1 isoform X3

      Conserved Domains (2) summary
      smart00225
      Location:235338
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam00651
      Location:106176
      BTB; BTB/POZ domain
    4. XM_006713769.3XP_006713832.1  ankyrin repeat and BTB/POZ domain-containing protein 1 isoform X1

      Conserved Domains (5) summary
      smart00225
      Location:275378
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd00204
      Location:378
      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:107212
      BTB; BTB/POZ domain
      pfam13857
      Location:2378
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:3768
      ANK; ANK repeat [structural motif]
    5. XM_017007285.1XP_016862774.1  ankyrin repeat and BTB/POZ domain-containing protein 1 isoform X4

    6. XM_024453782.1XP_024309550.1  ankyrin repeat and BTB/POZ domain-containing protein 1 isoform X2

      Conserved Domains (2) summary
      smart00225
      Location:274377
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam00651
      Location:106179
      BTB; BTB/POZ domain
    7. XM_017007287.1XP_016862776.1  ankyrin repeat and BTB/POZ domain-containing protein 1 isoform X6

      UniProtKB/Swiss-Prot
      Q969K4
      Related
      ENSP00000417366.1, OTTHUMP00000216044, ENST00000468137.5, OTTHUMT00000356600
      Conserved Domains (3) summary
      smart00225
      Location:131234
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam00651
      Location:131230
      BTB; BTB/POZ domain
      cl02518
      Location:868
      BTB; BTB/POZ domain
    8. XM_011513213.1XP_011511515.1  ankyrin repeat and BTB/POZ domain-containing protein 1 isoform X6

      See identical proteins and their annotated locations for XP_011511515.1

      UniProtKB/Swiss-Prot
      Q969K4
      Conserved Domains (3) summary
      smart00225
      Location:131234
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam00651
      Location:131230
      BTB; BTB/POZ domain
      cl02518
      Location:868
      BTB; BTB/POZ domain

    RNA

    1. XR_002959591.1 RNA Sequence

    2. XR_924182.2 RNA Sequence

    3. XR_001740286.1 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.
    Support Center