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    GMEB1 glucocorticoid modulatory element binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 10691, updated on 9-Dec-2024

    Summary

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    Official Symbol
    GMEB1provided by HGNC
    Official Full Name
    glucocorticoid modulatory element binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:4370
    See related
    Ensembl:ENSG00000162419 MIM:604409; AllianceGenome:HGNC:4370
    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
    PIF96; P96PIF
    Summary
    This gene encodes a member of KDWK gene family which associates with GMEB2 protein. The GMEB1-GMEB2 complex is essential for parvovirus DNA replication. Studies in rat for a similar gene suggest that this gene's role is to modulate the transactivation of the glucocorticoid receptor when it is bound to glucocorticoid response elements. Three alternative spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Feb 2016]
    Expression
    Ubiquitous expression in bone marrow (RPKM 4.0), testis (RPKM 3.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GMEB1 in Genome Data Viewer
    Location:
    1p35.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (28668229..28719353)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (28510195..28561345)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (28995296..29045865)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:28928951-28929451 Neighboring gene TATA-box binding protein associated factor 12 Neighboring gene Sharpr-MPRA regulatory region 12118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:28971631-28972130 Neighboring gene TAF12 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 547 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 546 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 545 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 603 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:28998036-28998554 Neighboring gene RNA, U11 small nuclear Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29007753-29008252 Neighboring gene small Cajal body-specific RNA 24 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29061369-29062268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 604 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29063168-29064066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29069801-29070309 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:29074507-29074730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29075305-29075826 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29075827-29076347 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29081023-29081522 Neighboring gene YTH N6-methyladenosine RNA binding protein F2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29089259-29089760 Neighboring gene Sharpr-MPRA regulatory region 15715 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 606 Neighboring gene NANOG hESC enhancer GRCh37_chr1:29133560-29134067 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29141619-29142120 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29161670-29162170 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29162171-29162671 Neighboring gene opioid receptor delta 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29181461-29181962

    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. Crystal structure and nuclear magnetic resonance analyses of the SAND domain from glucocorticoid modulatory element binding protein-1 reveals deoxyribonucleic acid and zinc binding regions. Surdo PL, et al. Mol Endocrinol, 2003 Jul. PMID 12702733
    2. GMEB1, a novel endogenous caspase inhibitor, prevents hypoxia- and oxidative stress-induced neuronal apoptosis. Nakagawa T, et al. Neurosci Lett, 2008 Jun 13. PMID 18455874
    3. Cloning and characterization of hGMEB1, a novel glucocorticoid modulatory element binding protein. Thériault JR, et al. FEBS Lett, 1999 Jun 11. PMID 10386584
    4. Two new members of the emerging KDWK family of combinatorial transcription modulators bind as a heterodimer to flexibly spaced PuCGPy half-sites. Christensen J, et al. Mol Cell Biol, 1999 Nov. PMID 10523663, Free PMC Article
    5. Genomic organization of human GMEB-1 and rat GMEB-2: structural conservation of two multifunctional proteins. Zeng H, et al. Nucleic Acids Res, 2000 Apr 15. PMID 10734202, Free PMC Article

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Our findings show the de-ubiquitinase USP40 regulates the ubiquitination and degradation of CFLARL; and GMEB1 acts as a bridge protein for USP40 and CFLARL. Mechanistically, we found GMEB1 inhibits the activation of CASP8 by modulating ubiquitination and degradation of CFLARL
      Title: Glucocorticoid modulatory element-binding protein 1 (GMEB1) interacts with the de-ubiquitinase USP40 to stabilize CFLAR(L) and inhibit apoptosis in human non-small cell lung cancer cells.
    2. GMEB1 effectively attenuated caspase activation and apoptosis caused by these stresses in human neuroblastoma SK-N-MC cells, indicating that it functions as a potent inhibitor of caspase activation and apoptosis in response to oxidative stress.
      Title: GMEB1, a novel endogenous caspase inhibitor, prevents hypoxia- and oxidative stress-induced neuronal apoptosis.
    3. consensus DNA recognition motif for two KDWK transcription factors identifies flexible-length, CpG-methylation sensitive cognate binding sites in the majority of human promoters
      Title: A consensus DNA recognition motif for two KDWK transcription factors identifies flexible-length, CpG-methylation sensitive cognate binding sites in the majority of human promoters.
    4. GMEB1 is an endogenous regulator that selectively binds to initiator procaspases and inhibits caspase-induced apoptosis
      Title: Glucocorticoid modulatory element-binding protein 1 binds to initiator procaspases and inhibits ischemia-induced apoptosis and neuronal injury.
    5. 1.55 A resolution crystal structure of a central portion of GMEB1, encompassing its SAND domain
      Title: Crystal structure and nuclear magnetic resonance analyses of the SAND domain from glucocorticoid modulatory element binding protein-1 reveals deoxyribonucleic acid and zinc binding regions.
    6. GMEB1 is capable of binding to the prodomain of caspase-2; findings indicated that GMEB1 might be an endogenous inhibitory protein that selectively interacts with prodomain of caspase-2 to disrupt the autoactivation
      Title: Regulation of procaspase-2 by glucocorticoid modulatory element-binding protein 1 through the interaction with caspase recruitment domain.
    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)

    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 DNA-binding transcription activator activity, RNA polymerase II-specific TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables Hsp27 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    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
    glucocorticoid modulatory element-binding protein 1
    Names
    DNA-binding protein p96PIF
    PIF p96
    parvovirus initiation factor p96

    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_028983.2 RefSeqGene

      Range
      5557..56126
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001319674.2 → NP_001306603.1  glucocorticoid modulatory element-binding protein 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1. Variants 2 and 3 both encode the same isoform (2).
      Source sequence(s)
      AK000892, AK023126, AL645729
      Consensus CDS
      CCDS328.1
      UniProtKB/TrEMBL
      B1AT47, B2RCN8
      Related
      ENSP00000362922.1, ENST00000373816.6
      Conserved Domains (1) summary
      pfam01342
      Location:80 → 155
      SAND; SAND domain

    2. NM_006582.4 → NP_006573.2  glucocorticoid modulatory element-binding protein 1 isoform 1

      See identical proteins and their annotated locations for NP_006573.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK023126, AK315195, AL645729, BC001473
      Consensus CDS
      CCDS327.1
      UniProtKB/Swiss-Prot
      B1AT48, Q9NWH1, Q9UKD0, Q9Y692
      UniProtKB/TrEMBL
      B2RCN8
      Related
      ENSP00000294409.2, ENST00000294409.2
      Conserved Domains (1) summary
      pfam01342
      Location:90 → 165
      SAND; SAND domain

    3. NM_024482.3 → NP_077808.1  glucocorticoid modulatory element-binding protein 1 isoform 2

      See identical proteins and their annotated locations for NP_077808.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1. Variants 2 and 3 both encode the same isoform (2).
      Source sequence(s)
      AK023126, AL645729, BC001473
      Consensus CDS
      CCDS328.1
      UniProtKB/TrEMBL
      B1AT47, B2RCN8
      Related
      ENSP00000355186.4, ENST00000361872.8
      Conserved Domains (1) summary
      pfam01342
      Location:80 → 155
      SAND; SAND domain

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      28668229..28719353
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438136.1 → XP_047294092.1  glucocorticoid modulatory element-binding protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B1AT48, Q9NWH1, Q9UKD0, Q9Y692
      UniProtKB/TrEMBL
      B2RCN8

    2. XM_047438283.1 → XP_047294239.1  glucocorticoid modulatory element-binding protein 1 isoform X2

      UniProtKB/TrEMBL
      B1AT47, B2RCN8

    3. XM_011540519.3 → XP_011538821.1  glucocorticoid modulatory element-binding protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011538821.1

      UniProtKB/Swiss-Prot
      B1AT48, Q9NWH1, Q9UKD0, Q9Y692
      UniProtKB/TrEMBL
      B2RCN8
      Conserved Domains (1) summary
      pfam01342
      Location:90 → 165
      SAND; SAND domain

    4. XM_047438187.1 → XP_047294143.1  glucocorticoid modulatory element-binding protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B1AT48, Q9NWH1, Q9UKD0, Q9Y692
      UniProtKB/TrEMBL
      B2RCN8

    5. XM_017000087.2 → XP_016855576.1  glucocorticoid modulatory element-binding protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B1AT48, Q9NWH1, Q9UKD0, Q9Y692
      UniProtKB/TrEMBL
      B2RCN8
      Conserved Domains (1) summary
      pfam01342
      Location:90 → 165
      SAND; SAND domain

    6. XM_011540521.4 → XP_011538823.1  glucocorticoid modulatory element-binding protein 1 isoform X2

      See identical proteins and their annotated locations for XP_011538823.1

      UniProtKB/TrEMBL
      B1AT47, B2RCN8
      Conserved Domains (1) summary
      pfam01342
      Location:80 → 155
      SAND; SAND domain

    7. XM_011540518.3 → XP_011538820.1  glucocorticoid modulatory element-binding protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011538820.1

      UniProtKB/Swiss-Prot
      B1AT48, Q9NWH1, Q9UKD0, Q9Y692
      UniProtKB/TrEMBL
      B2RCN8
      Conserved Domains (1) summary
      pfam01342
      Location:90 → 165
      SAND; SAND domain

    8. XM_047438233.1 → XP_047294189.1  glucocorticoid modulatory element-binding protein 1 isoform X2

      UniProtKB/TrEMBL
      B1AT47, B2RCN8

    9. XM_047438316.1 → XP_047294272.1  glucocorticoid modulatory element-binding protein 1 isoform X2

      UniProtKB/TrEMBL
      B1AT47, B2RCN8

    10. XM_011540522.4 → XP_011538824.1  glucocorticoid modulatory element-binding protein 1 isoform X3

      Conserved Domains (1) summary
      pfam15449
      Location:168 → 256
      Retinal; Retinal protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      28510195..28561345
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333897.1 → XP_054189872.1  glucocorticoid modulatory element-binding protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B1AT48, Q9NWH1, Q9UKD0, Q9Y692
      UniProtKB/TrEMBL
      B2RCN8

    2. XM_054333904.1 → XP_054189879.1  glucocorticoid modulatory element-binding protein 1 isoform X2

      UniProtKB/TrEMBL
      B1AT47, B2RCN8

    3. XM_054333901.1 → XP_054189876.1  glucocorticoid modulatory element-binding protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B1AT48, Q9NWH1, Q9UKD0, Q9Y692
      UniProtKB/TrEMBL
      B2RCN8

    4. XM_054333900.1 → XP_054189875.1  glucocorticoid modulatory element-binding protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B1AT48, Q9NWH1, Q9UKD0, Q9Y692
      UniProtKB/TrEMBL
      B2RCN8

    5. XM_054333899.1 → XP_054189874.1  glucocorticoid modulatory element-binding protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B1AT48, Q9NWH1, Q9UKD0, Q9Y692
      UniProtKB/TrEMBL
      B2RCN8

    6. XM_054333903.1 → XP_054189878.1  glucocorticoid modulatory element-binding protein 1 isoform X2

      UniProtKB/TrEMBL
      B1AT47, B2RCN8

    7. XM_054333898.1 → XP_054189873.1  glucocorticoid modulatory element-binding protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B1AT48, Q9NWH1, Q9UKD0, Q9Y692
      UniProtKB/TrEMBL
      B2RCN8

    8. XM_054333902.1 → XP_054189877.1  glucocorticoid modulatory element-binding protein 1 isoform X2

      UniProtKB/TrEMBL
      B1AT47, B2RCN8

    9. XM_054333905.1 → XP_054189880.1  glucocorticoid modulatory element-binding protein 1 isoform X2

      UniProtKB/TrEMBL
      B1AT47, B2RCN8

    10. XM_054333906.1 → XP_054189881.1  glucocorticoid modulatory element-binding protein 1 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y692.2 GenPept UniProtKB/Swiss-Prot:Q9Y692

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