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    GABPB1 GA binding protein transcription factor beta subunit 1 [ Homo sapiens (human) ]

    Gene ID: 2553, updated on 20-Aug-2016
    Official Symbol
    GABPB1provided by HGNC
    Official Full Name
    GA binding protein transcription factor beta subunit 1provided by HGNC
    Primary source
    HGNC:HGNC:4074
    See related
    Ensembl:ENSG00000104064 HPRD:15975; MIM:600610; Vega:OTTHUMG00000131642
    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
    E4TF1; GABPB; BABPB2; E4TF1B; GABPB2; NRF2B1; NRF2B2; GABPB-1; E4TF1-47; E4TF1-53
    Summary
    This gene encodes the GA-binding protein transcription factor, beta subunit. This protein forms a tetrameric complex with the alpha subunit, and stimulates transcription of target genes. The encoded protein may be involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. The crystal structure of a similar protein in mouse has been resolved as a ternary protein complex. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
    Annotation information
    Note: In August, 2008, the nomenclature of the GA binding protein transcription factors was clarified. The gene on Hsa1q was named GABPB2 and the gene on Hsa15q was named GABPB1. [24 Sep 2008]
    Orthologs
    Location:
    15q21.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 15 NC_000015.10 (50277192..50355429, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (50569389..50647605, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 27 member 2 Neighboring gene RNA, 7SL, cytoplasmic 494, pseudogene Neighboring gene histidine decarboxylase Neighboring gene RNA, U6 small nuclear 94, pseudogene Neighboring gene GABPB1 antisense RNA 1 Neighboring gene uncharacterized protein FLJ10038 Neighboring gene microRNA 4712 Neighboring gene adenosylhomocysteinase pseudogene 7

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Replication interactions

    Interaction Pubs
    Knockdown of GA binding protein transcription factor, beta subunit 1 (GABPB1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    • Mitochondrial biogenesis, organism-specific biosystem (from REACTOME)
      Mitochondrial biogenesis, organism-specific biosystemMitochondrial biogenesis and remodeling occur in response to exercise and redox state (reviewed in Scarpulla et al. 2012, Handy and Loscalzo 2012, Piantadosi and Suliman 2012, Scarpulla 2011, Wenz et...
    • Myometrial Relaxation and Contraction Pathways, organism-specific biosystem (from WikiPathways)
      Myometrial Relaxation and Contraction Pathways, organism-specific biosystemThis pathway illustrates signaling networks implicated in uterine muscle contraction at labor and quiescence throughout gestation (pregnancy). The muscle of the uterus, responsible for contractile ac...
    • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
      Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
    • Transcriptional activation of mitochondrial biogenesis, organism-specific biosystem (from REACTOME)
      Transcriptional activation of mitochondrial biogenesis, organism-specific biosystemPhosphorylated PPARGC1A (PGC-1alpha) does not bind DNA directly but instead interacts with other transcription factors, notably NRF1 and NRF2 (via HCF1). NRF1 and NRF2 together with PPARGC1A activate...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor activity, sequence-specific DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription regulatory region DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    GA-binding protein subunit beta-1
    Names
    GA binding protein transcription factor beta subunit 1 transcript variant gamma-2
    GA binding protein transcription factor, beta subunit 1
    GABP subunit beta-2
    nuclear respiratory factor 2
    transcription factor E4TF1-47
    transcription factor E4TF1-53
    NP_001307839.1
    NP_001307844.1
    NP_002032.2
    NP_005245.2
    NP_057738.1
    NP_057739.1
    NP_852092.1

    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_029475.1 RefSeqGene

      Range
      5001..83217
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001320910.1NP_001307839.1  GA-binding protein subunit beta-1 isoform beta 1

      Status: REVIEWED

      Source sequence(s)
      AC022087
      UniProtKB/Swiss-Prot
      Q06547
      Conserved Domains (5) summary
      cd00204
      Location:34156
      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 ...
      pfam12796
      Location:42133
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:1058
      Ank_4; Ankyrin repeats (many copies)
      pfam16566
      Location:341390
      CREPT; Cell-cycle alteration and expression-elevated protein in tumour
      sd00045
      Location:3868
      ANK; ANK repeat [structural motif]
    2. NM_001320915.1NP_001307844.1  GA-binding protein subunit beta-1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC022087
      Conserved Domains (4) summary
      cd00204
      Location:34156
      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 ...
      pfam11471
      Location:343372
      Sugarporin_N; Maltoporin periplasmic N-terminal extension
      pfam12796
      Location:42133
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:1058
      Ank_4; Ankyrin repeats (many copies)
    3. NM_002041.4NP_002032.2  GA-binding protein subunit beta-1 isoform gamma 1

      See identical proteins and their annotated locations for NP_002032.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (gamma 1) uses an alternate in-frame splice site in the 3' coding region, compared to variant beta 1, resulting in a shorter isoform (gamma 1).
      Source sequence(s)
      DA156248, U13047
      Consensus CDS
      CCDS45258.1
      UniProtKB/Swiss-Prot
      Q06547
      Related
      ENSP00000395771, OTTHUMP00000248314, ENST00000429662, OTTHUMT00000418298
      Conserved Domains (4) summary
      cd00204
      Location:34156
      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 ...
      pfam12796
      Location:42133
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:1058
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:3868
      ANK; ANK repeat [structural motif]
    4. NM_005254.5NP_005245.2  GA-binding protein subunit beta-1 isoform beta 1

      See identical proteins and their annotated locations for NP_005245.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (beta 1) encodes the longest isoform (beta 1).
      Source sequence(s)
      AI631183, BC036080, DA156248, U13045
      Consensus CDS
      CCDS32239.1
      UniProtKB/Swiss-Prot
      Q06547
      Related
      ENSP00000220429, OTTHUMP00000248311, ENST00000220429, OTTHUMT00000418294
      Conserved Domains (5) summary
      cd00204
      Location:34156
      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 ...
      pfam12796
      Location:42133
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:1058
      Ank_4; Ankyrin repeats (many copies)
      pfam16566
      Location:341390
      CREPT; Cell-cycle alteration and expression-elevated protein in tumour
      sd00045
      Location:3868
      ANK; ANK repeat [structural motif]
    5. NM_016654.4NP_057738.1  GA-binding protein subunit beta-1 isoform beta 2

      See identical proteins and their annotated locations for NP_057738.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (beta 2) lacks an alternate in-frame segment, compared to variant beta 1, resulting in a shorter isoform (beta 2) that lacks a 12-amino acid serine-rich region, compared to isoform beta 1.
      Source sequence(s)
      AI631183, BC036080, D13317, DA156248
      Consensus CDS
      CCDS10135.1
      UniProtKB/Swiss-Prot
      Q06547
      UniProtKB/TrEMBL
      A0A024R5X6
      Related
      ENSP00000370259, OTTHUMP00000162412, ENST00000380877, OTTHUMT00000254537
      Conserved Domains (4) summary
      cd00204
      Location:34156
      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 ...
      pfam11471
      Location:332361
      Sugarporin_N; Maltoporin periplasmic N-terminal extension
      pfam12796
      Location:42133
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:1058
      Ank_4; Ankyrin repeats (many copies)
    6. NM_016655.4NP_057739.1  GA-binding protein subunit beta-1 isoform gamma 2

      See identical proteins and their annotated locations for NP_057739.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (gamma 2) contains multiple differences compared to variant beta 1, resulting in a shorter isoform (gamma 2) that lacks a 12-amino acid serine-rich region, compared to isoform beta 1. Both this variant (gamma 2) and gamma 3 encode the same isoform (gamma 2), however, they differ in the 5' UTR.
      Source sequence(s)
      DA156248, U13047, U13048
      Consensus CDS
      CCDS10136.1
      UniProtKB/Swiss-Prot
      Q06547
      UniProtKB/TrEMBL
      A0A024R5R5
      Related
      ENSP00000379728, OTTHUMP00000162413, ENST00000396464, OTTHUMT00000254538
      Conserved Domains (4) summary
      cd00204
      Location:34156
      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 ...
      pfam12796
      Location:42133
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:1058
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:3868
      ANK; ANK repeat [structural motif]
    7. NM_181427.3NP_852092.1  GA-binding protein subunit beta-1 isoform gamma 2

      See identical proteins and their annotated locations for NP_852092.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (gamma 3) contains multiple differences compared to variant beta 1, resulting in a shorter isoform (gamma 2) that lacks a 12-amino acid serine-rich region, compared to isoform beta 1. Both this variant (gamma 3) and gamma 2 encode the same isoform (gamma 2), however, they differ in the 5' UTR.
      Source sequence(s)
      DA156248, DA502761, U13048
      Consensus CDS
      CCDS10136.1
      UniProtKB/Swiss-Prot
      Q06547
      UniProtKB/TrEMBL
      A0A024R5R5
      Related
      ENSP00000351923, ENST00000359031
      Conserved Domains (4) summary
      cd00204
      Location:34156
      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 ...
      pfam12796
      Location:42133
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:1058
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:3868
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p7 Primary Assembly

      Range
      50277192..50355429 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521426.2XP_011519728.1  

      See identical proteins and their annotated locations for XP_011519728.1

      Conserved Domains (4) summary
      cd00204
      Location:34156
      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 ...
      pfam11471
      Location:331360
      Sugarporin_N; Maltoporin periplasmic N-terminal extension
      pfam12796
      Location:42133
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:1058
      Ank_4; Ankyrin repeats (many copies)
    2. XM_017022054.1XP_016877543.1  

    3. XM_005254274.3XP_005254331.1  

      See identical proteins and their annotated locations for XP_005254331.1

      UniProtKB/Swiss-Prot
      Q06547
      Conserved Domains (5) summary
      cd00204
      Location:34156
      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 ...
      pfam12796
      Location:42133
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:1058
      Ank_4; Ankyrin repeats (many copies)
      pfam16566
      Location:341390
      CREPT; Cell-cycle alteration and expression-elevated protein in tumour
      sd00045
      Location:3868
      ANK; ANK repeat [structural motif]
    4. XM_017022053.1XP_016877542.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018926.2 Alternate CHM1_1.1

      Range
      50687328..50765457 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)