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

    Gene ID: 2553, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GABPB1provided by HGNC
    Official Full Name
    GA binding protein transcription factor subunit beta 1provided by HGNC
    Primary source
    HGNC:HGNC:4074
    See related
    Ensembl:ENSG00000104064 MIM:600610; AllianceGenome:HGNC:4074
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 6.9), lymph node (RPKM 6.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GABPB1 in Genome Data Viewer
    Location:
    15q21.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (50275389..50355198, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (48083628..48163356, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (50567586..50647395, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6423 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6424 Neighboring gene solute carrier family 27 member 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:50502954-50503533 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:50544247-50544748 Neighboring gene RNA, 7SL, cytoplasmic 494, pseudogene Neighboring gene histidine decarboxylase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9391 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6425 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6426 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:50647177-50647800 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9392 Neighboring gene GABPB1 intronic transcript Neighboring gene GABPB1 antisense RNA 1 Neighboring gene RNA, U6 small nuclear 94, pseudogene Neighboring gene microRNA 4712 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:50674110-50674285 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:50676534-50676699 Neighboring gene adenosylhomocysteinase pseudogene 7

    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 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. Association study of performance-related polymorphisms in Brazilian combat-sport athletes highlights variants in the GABPB1 gene. Guilherme JPLF, et al. Physiol Genomics, 2021 Feb 1. PMID 33346691
    2. Association of SNP rs7181866 in the nuclear respiratory factor-2 beta subunit encoding GABPB1 gene with obesity and type-2 diabetes mellitus in South Indian population. Umapathy D, et al. Int J Biol Macromol, 2019 Jul 1. PMID 30904536
    3. GABP is necessary for stem/progenitor cell maintenance and myeloid differentiation in human hematopoiesis and chronic myeloid leukemia. Manukjan G, et al. Stem Cell Res, 2016 May. PMID 27100840
    4. Retinoblastoma binding factor 1 site in the core promoter region of the human RB gene is activated by hGABP/E4TF1. Sowa Y, et al. Cancer Res, 1997 Aug 1. PMID 9242441
    5. Nuclear respiratory factors 1 and 2 utilize similar glutamine-containing clusters of hydrophobic residues to activate transcription. Gugneja S, et al. Mol Cell Biol, 1996 Oct. PMID 8816484, Free PMC Article

    See all (67) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association of single nucleotide polymorphisms in the nuclear respiratory factor-2 beta subunit-encoding the GABPB1 gene within the occupational environment.
      Title: Association of single nucleotide polymorphisms in the nuclear respiratory factor-2 beta subunit-encoding the GABPB1 gene within the occupational environment.
    2. Association study of performance-related polymorphisms in Brazilian combat-sport athletes highlights variants in the GABPB1 gene.
      Title: Association study of performance-related polymorphisms in Brazilian combat-sport athletes highlights variants in the GABPB1 gene.
    3. Cancer-specific loss of TERT activation sensitizes glioblastoma to DNA damage.
      Title: Cancer-specific loss of TERT activation sensitizes glioblastoma to DNA damage.
    4. FGFR4 promotes nuclear localization of GABP to inhibit cell apoptosis in uterine leiomyosarcoma.
      Title: FGFR4 promotes nuclear localization of GABP to inhibit cell apoptosis in uterine leiomyosarcoma.
    5. LncRNA GABPB1-AS1 and GABPB1 regulate oxidative stress during erastin-induced ferroptosis in HepG2 hepatocellular carcinoma cells.
      Title: LncRNA GABPB1-AS1 and GABPB1 regulate oxidative stress during erastin-induced ferroptosis in HepG2 hepatocellular carcinoma cells.
    6. G allele of (rs7181866 A/G) was found to be significantly associated with risk for obesity among T2DM subjects
      Title: Association of SNP rs7181866 in the nuclear respiratory factor-2 beta subunit encoding GABPB1 gene with obesity and type-2 diabetes mellitus in South Indian population.
    7. Study in glioblastoma cells shows that genetic disruption of GABPbeta1L (beta1L), a tetramer-forming isoform of GABP that is dispensable for normal development, results in TERT silencing in a TERT promoter mutation-dependent manner. Reducing TERT expression by disrupting beta1L culminates in telomere loss and cell death exclusively in TERT promoter mutant cells.
      Title: Disruption of the β1L Isoform of GABP Reverses Glioblastoma Replicative Immortality in a TERT Promoter Mutation-Dependent Manner.
    8. Data revealed high expression of GABPB1 in clear cell renal cell carcinoma (ccRCC) tissues and cell lines. Its knockdown significantly decreased the colony formation ability via induction of p21Waf/Cip1 expression. Furthermore, the patients at high risk of a poor survival outcome exhibited the highest expression level of GABPB1. These findings imply that GABPB1 serves an important role in the progression of ccRCC.
      Title: Knockdown of GA-binding protein subunit β1 inhibits cell proliferation via p21 induction in renal cell carcinoma.
    9. Ectopic overexpression of a dominant-negative acting GABP mutant led to impaired myeloid differentiation of CD34(+) hematopoietic stem/progenitor cells.
      Title: GABP is necessary for stem/progenitor cell maintenance and myeloid differentiation in human hematopoiesis and chronic myeloid leukemia.
    10. role for GABPA/B1 as the critical ETS transcription factors deregulating SDHD expression in the context of highly recurrent promoter mutations in melanoma.
      Title: SDHD Promoter Mutations Ablate GABP Transcription Factor Binding in Melanoma.
    Submit: New GeneRIF Correction See all GeneRIFs (20)

    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 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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription cis-regulatory region binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrion organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasmic ribonucleoprotein granule IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    GA-binding protein subunit beta-1
    Names
    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
    XP_005254331.1
    XP_011519728.1
    XP_016877542.1
    XP_024305651.1
    XP_024305654.1
    XP_047288292.1
    XP_047288293.1
    XP_054233630.1
    XP_054233631.1
    XP_054233632.1
    XP_054233633.1
    XP_054233634.1
    XP_054233635.1
    XP_054233636.1

    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_029475.2 RefSeqGene

      Range
      5211..85020
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001320910.2 → NP_001307839.1  GA-binding protein subunit beta-1 isoform beta 1

      Status: REVIEWED

      Source sequence(s)
      AC022087
      Consensus CDS
      CCDS32239.1
      UniProtKB/Swiss-Prot
      A8IE52, Q06545, Q06547, Q12940, Q12941, Q12942, Q8IYD0
      UniProtKB/TrEMBL
      B7Z726
      Conserved Domains (4) summary
      sd00045
      Location:38 → 68
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:10 → 58
      Ank_4; Ankyrin repeats (many copies)
      pfam12796
      Location:42 → 133
      Ank_2; Ankyrin repeats (3 copies)
      pfam16566
      Location:341 → 390
      CREPT; Cell-cycle alteration and expression-elevated protein in tumor

    2. NM_001320915.2 → NP_001307844.1  GA-binding protein subunit beta-1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC022087
      UniProtKB/TrEMBL
      B7Z726
      Conserved Domains (4) summary
      sd00045
      Location:38 → 68
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:10 → 58
      Ank_4; Ankyrin repeats (many copies)
      pfam12796
      Location:42 → 133
      Ank_2; Ankyrin repeats (3 copies)
      pfam16566
      Location:340 → 389
      CREPT; Cell-cycle alteration and expression-elevated protein in tumor

    3. NM_002041.5 → NP_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/TrEMBL
      B7Z726
      Related
      ENSP00000395771.2, ENST00000429662.6
      Conserved Domains (3) summary
      sd00045
      Location:38 → 68
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:42 → 133
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:10 → 58
      Ank_4; Ankyrin repeats (many copies)

    4. NM_005254.6 → NP_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)
      AC022087, AI631183, BC036080, DA156248, U13045
      Consensus CDS
      CCDS32239.1
      UniProtKB/Swiss-Prot
      A8IE52, Q06545, Q06547, Q12940, Q12941, Q12942, Q8IYD0
      UniProtKB/TrEMBL
      B7Z726
      Related
      ENSP00000220429.8, ENST00000220429.12
      Conserved Domains (4) summary
      sd00045
      Location:38 → 68
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:10 → 58
      Ank_4; Ankyrin repeats (many copies)
      pfam12796
      Location:42 → 133
      Ank_2; Ankyrin repeats (3 copies)
      pfam16566
      Location:341 → 390
      CREPT; Cell-cycle alteration and expression-elevated protein in tumor

    5. NM_016654.5 → NP_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)
      AC022087, AI631183, BC036080, D13317, DA156248
      Consensus CDS
      CCDS10135.1
      UniProtKB/TrEMBL
      B7Z726
      Related
      ENSP00000370259.3, ENST00000380877.8
      Conserved Domains (4) summary
      sd00045
      Location:38 → 68
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:10 → 58
      Ank_4; Ankyrin repeats (many copies)
      pfam12796
      Location:42 → 133
      Ank_2; Ankyrin repeats (3 copies)
      pfam16566
      Location:329 → 378
      CREPT; Cell-cycle alteration and expression-elevated protein in tumor

    6. NM_016655.5 → NP_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/TrEMBL
      B7Z726
      Related
      ENSP00000379728.3, ENST00000396464.7
      Conserved Domains (3) summary
      sd00045
      Location:38 → 68
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:10 → 58
      Ank_4; Ankyrin repeats (many copies)
      pfam12796
      Location:42 → 133
      Ank_2; Ankyrin repeats (3 copies)

    7. NM_181427.4 → NP_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/TrEMBL
      B7Z726
      Related
      ENSP00000351923.4, ENST00000359031.8
      Conserved Domains (3) summary
      sd00045
      Location:38 → 68
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:10 → 58
      Ank_4; Ankyrin repeats (many copies)
      pfam12796
      Location:42 → 133
      Ank_2; Ankyrin repeats (3 copies)

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      50275389..50355198 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521426.4 → XP_011519728.1  GA-binding protein subunit beta-1 isoform X7

      See identical proteins and their annotated locations for XP_011519728.1

      UniProtKB/TrEMBL
      B7Z726
      Conserved Domains (4) summary
      sd00045
      Location:38 → 68
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:10 → 58
      Ank_4; Ankyrin repeats (many copies)
      pfam12796
      Location:42 → 133
      Ank_2; Ankyrin repeats (3 copies)
      pfam16566
      Location:328 → 377
      CREPT; Cell-cycle alteration and expression-elevated protein in tumor

    2. XM_024449886.2 → XP_024305654.1  GA-binding protein subunit beta-1 isoform X4

      UniProtKB/TrEMBL
      B7Z726
      Conserved Domains (4) summary
      sd00045
      Location:38 → 68
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:10 → 58
      Ank_4; Ankyrin repeats (many copies)
      pfam12796
      Location:42 → 133
      Ank_2; Ankyrin repeats (3 copies)
      pfam16566
      Location:340 → 389
      CREPT; Cell-cycle alteration and expression-elevated protein in tumor

    3. XM_017022053.3 → XP_016877542.1  GA-binding protein subunit beta-1 isoform X6

      UniProtKB/TrEMBL
      B7Z726
      Conserved Domains (4) summary
      sd00045
      Location:38 → 68
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:10 → 58
      Ank_4; Ankyrin repeats (many copies)
      pfam12796
      Location:42 → 133
      Ank_2; Ankyrin repeats (3 copies)
      pfam16566
      Location:329 → 378
      CREPT; Cell-cycle alteration and expression-elevated protein in tumor

    4. XM_024449883.2 → XP_024305651.1  GA-binding protein subunit beta-1 isoform X2

      UniProtKB/TrEMBL
      B7Z726
      Conserved Domains (3) summary
      cd00204
      Location:39 → 161
      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:43 → 73
      ANK; ANK repeat [structural motif]
      cl25742
      Location:328 → 394
      ERM; Ezrin/radixin/moesin family

    5. XM_047432337.1 → XP_047288293.1  GA-binding protein subunit beta-1 isoform X5

    6. XM_005254274.5 → XP_005254331.1  GA-binding protein subunit beta-1 isoform X3

      See identical proteins and their annotated locations for XP_005254331.1

      UniProtKB/Swiss-Prot
      A8IE52, Q06545, Q06547, Q12940, Q12941, Q12942, Q8IYD0
      UniProtKB/TrEMBL
      B7Z726
      Conserved Domains (4) summary
      sd00045
      Location:38 → 68
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:10 → 58
      Ank_4; Ankyrin repeats (many copies)
      pfam12796
      Location:42 → 133
      Ank_2; Ankyrin repeats (3 copies)
      pfam16566
      Location:341 → 390
      CREPT; Cell-cycle alteration and expression-elevated protein in tumor

    7. XM_047432336.1 → XP_047288292.1  GA-binding protein subunit beta-1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      48083628..48163356 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377661.1 → XP_054233636.1  GA-binding protein subunit beta-1 isoform X7

    2. XM_054377658.1 → XP_054233633.1  GA-binding protein subunit beta-1 isoform X4

    3. XM_054377660.1 → XP_054233635.1  GA-binding protein subunit beta-1 isoform X6

    4. XM_054377656.1 → XP_054233631.1  GA-binding protein subunit beta-1 isoform X2

    5. XM_054377659.1 → XP_054233634.1  GA-binding protein subunit beta-1 isoform X5

    6. XM_054377657.1 → XP_054233632.1  GA-binding protein subunit beta-1 isoform X3

      UniProtKB/Swiss-Prot
      A8IE52, Q06545, Q06547, Q12940, Q12941, Q12942, Q8IYD0

    7. XM_054377655.1 → XP_054233630.1  GA-binding protein subunit beta-1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q06547.2 GenPept UniProtKB/Swiss-Prot:Q06547

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