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

Gene ID: 10691, updated on 1-Jun-2020

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
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

Genomic context

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See GMEB1 in Genome Data Viewer
Location:
1p35.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (28668782..28719353)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (28995234..29042115)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RAB42, member RAS oncogene family Neighboring gene TATA-box binding protein associated factor 12 Neighboring gene long intergenic non-protein coding RNA 1715 Neighboring gene RNA, U11 small nuclear Neighboring gene YTH N6-methyladenosine RNA binding protein 2 Neighboring gene Sharpr-MPRA regulatory region 15715

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. 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
  2. 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
  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. Regulation of procaspase-2 by glucocorticoid modulatory element-binding protein 1 through the interaction with caspase recruitment domain. Tsuruma K, et al. Biochem Biophys Res Commun, 2004 Dec 24. PMID 15555560
  5. 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. Burnett E, et al. J Mol Biol, 2001 Dec 14. PMID 11743720

See all (28) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

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<sub>L</sub> 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)

Genotypes

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
DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
  
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
 PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
  
transcription coactivator activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
  
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
  
nucleoplasm IDA
Inferred from Direct Assay
more info
  
nucleus IBA
Inferred from Biological aspect of Ancestor
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_028983.1 RefSeqGene

    Range
    5001..51876
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001319674.2 → NP_001306603.1  glucocorticoid modulatory element-binding protein 1 isoform 3

    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/Swiss-Prot
    Q9Y692
    UniProtKB/TrEMBL
    B1AT47
    Related
    ENSP00000362922.1, ENST00000373816.5
    Conserved Domains (2) summary
    pfam01342
    Location:81 → 155
    SAND; SAND domain
    cl25836
    Location:364 → 452
    Retinal; Retinal protein

  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
    Q9Y692
    UniProtKB/TrEMBL
    B2RCN8
    Related
    ENSP00000294409.2, ENST00000294409.2
    Conserved Domains (2) summary
    pfam01342
    Location:91 → 165
    SAND; SAND domain
    cl25836
    Location:374 → 462
    Retinal; Retinal protein

  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/Swiss-Prot
    Q9Y692
    UniProtKB/TrEMBL
    B1AT47
    Related
    ENSP00000355186.4, ENST00000361872.8
    Conserved Domains (2) summary
    pfam01342
    Location:81 → 155
    SAND; SAND domain
    cl25836
    Location:364 → 452
    Retinal; Retinal protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    28668782..28719353
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540519.2 → 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
    Q9Y692
    Related
    ENST00000480454.1
    Conserved Domains (2) summary
    pfam01342
    Location:91 → 165
    SAND; SAND domain
    cl25836
    Location:374 → 462
    Retinal; Retinal protein

  2. XM_011540522.3 → XP_011538824.1  glucocorticoid modulatory element-binding protein 1 isoform X3

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

  3. XM_011540521.3 → XP_011538823.1  glucocorticoid modulatory element-binding protein 1 isoform X2

    See identical proteins and their annotated locations for XP_011538823.1

    UniProtKB/Swiss-Prot
    Q9Y692
    UniProtKB/TrEMBL
    B1AT47
    Conserved Domains (2) summary
    pfam01342
    Location:81 → 155
    SAND; SAND domain
    cl25836
    Location:364 → 452
    Retinal; Retinal protein

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

    UniProtKB/Swiss-Prot
    Q9Y692
    Conserved Domains (2) summary
    pfam01342
    Location:91 → 165
    SAND; SAND domain
    cl25836
    Location:374 → 462
    Retinal; Retinal protein

  5. XM_011540518.2 → 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
    Q9Y692
    Conserved Domains (2) summary
    pfam01342
    Location:91 → 165
    SAND; SAND domain
    cl25836
    Location:374 → 462
    Retinal; Retinal protein
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y692.2 GenPept UniProtKB/Swiss-Prot:Q9Y692

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