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

Gene ID: 80325, updated on 8-May-2016
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 HPRD:10513; 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]
Orthologs
Location:
3q21
Exon count:
14
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 3 NC_000003.12 (127672938..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 minichromosome maintenance complex component 2 Neighboring gene podocalyxin like 2 Neighboring gene monoglyceride lipase Neighboring gene uncharacterized LOC105374095 Neighboring gene uncharacterized LOC105374096

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
 
Process Evidence Code Pubs
translational elongation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm 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
ABTB1
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, OTTHUMP00000216042, ENST00000453791, OTTHUMT00000356598
    Conserved Domains (2) summary
    smart00225
    Location:131234
    BTB; Broad-Complex, Tramtrack and Bric a brac
    cl02518
    Location:1968
    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, OTTHUMP00000216041, ENST00000232744, 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 ...
    pfam00651
    Location:105178
    BTB; BTB/POZ domain
    pfam13857
    Location:2176
    Ank_5; Ankyrin repeats (many copies)

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, OTTHUMT00000356599

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p2 Primary Assembly

    Range
    127672938..127680926
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713769.2XP_006713832.1  

    Conserved Domains (4) 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:107180
    BTB; BTB/POZ domain
    pfam13857
    Location:2378
    Ank_5; Ankyrin repeats (many copies)
  2. XM_011513213.1XP_011511515.1  

    See identical proteins and their annotated locations for XP_011511515.1

    UniProtKB/Swiss-Prot
    Q969K4
    Conserved Domains (2) summary
    smart00225
    Location:131234
    BTB; Broad-Complex, Tramtrack and Bric a brac
    cl02518
    Location:1968
    BTB; BTB/POZ domain
  3. XM_006713772.2XP_006713835.1  

    See identical proteins and their annotated locations for XP_006713835.1

    UniProtKB/Swiss-Prot
    Q969K4
    Related
    ENSP00000417366, OTTHUMP00000216044, ENST00000468137, OTTHUMT00000356600
    Conserved Domains (2) summary
    smart00225
    Location:131234
    BTB; Broad-Complex, Tramtrack and Bric a brac
    cl02518
    Location:1968
    BTB; BTB/POZ domain
  4. XM_011513212.1XP_011511514.1  

    Conserved Domains (1) summary
    smart00225
    Location:92195
    BTB; Broad-Complex, Tramtrack and Bric a brac

RNA

  1. XR_924182.1 RNA Sequence

  2. XR_924183.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 Alternate CHM1_1.1

    Range
    127355102..127363090
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.