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    GREB1 growth regulating estrogen receptor binding 1 [ Homo sapiens (human) ]

    Gene ID: 9687, updated on 5-Mar-2024

    Summary

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    Official Symbol
    GREB1provided by HGNC
    Official Full Name
    growth regulating estrogen receptor binding 1provided by HGNC
    Primary source
    HGNC:HGNC:24885
    See related
    Ensembl:ENSG00000196208 MIM:611736; AllianceGenome:HGNC:24885
    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
    Summary
    This gene is an estrogen-responsive gene that is an early response gene in the estrogen receptor-regulated pathway. It is thought to play an important role in hormone-responsive tissues and cancer. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in ovary (RPKM 38.8), prostate (RPKM 13.2) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2p25.1
    Exon count:
    41
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (11482888..11642788)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (11514740..11675937)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (11674171..11782914)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373429 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:11565759-11566958 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:11589453-11589714 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:11605481-11606038 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:11606039-11606595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15319 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11624569-11625070 Neighboring gene E2F transcription factor 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11638323-11639108 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:11639109-11639894 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15320 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:11660661-11661162 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11678265-11678774 Neighboring gene RNA, 5S ribosomal pseudogene 84 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:11699191-11699909 Neighboring gene tRNA-Gly (CCC) 7-1 Neighboring gene microRNA 4429 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11714607-11715107 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:11718473-11719108 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:11719109-11719744 Neighboring gene Sharpr-MPRA regulatory region 7562 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11175 Neighboring gene RNA, U2 small nuclear 13, pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 85 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:11738736-11738940 Neighboring gene RNA, 7SL, cytoplasmic 674, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11756351-11756851 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:11771171-11772370 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:11796533-11797486 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11809762-11810298 Neighboring gene uncharacterized LOC100506405 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11822031-11822671 Neighboring gene neurotensin receptor 2 Neighboring gene cyclin dependent kinase 8 pseudogene 1 Neighboring gene lipin 1

    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. GREB1 regulates PI3K/Akt signaling to control hormone-sensitive breast cancer proliferation. Haines CN, et al. Carcinogenesis, 2020 Dec 31. PMID 32894276, Free PMC Article
    2. Oncogenic mutation in RAS-RAF axis leads to increased expression of GREB1, resulting in tumor proliferation in colorectal cancer. Kochi M, et al. Cancer Sci, 2020 Oct. PMID 32629543, Free PMC Article
    3. GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Kuster-Hauser syndrome. Jacquinet A, et al. Clin Genet, 2020 Aug. PMID 32378186
    4. Association between Single Nucleotide Polymorphisms and Endometriosis in a Brazilian Population. Viana PCS, et al. Rev Bras Ginecol Obstet, 2020 Mar. PMID 32232822
    5. Clinicopathologic Characterization of GREB1-rearranged Uterine Sarcomas With Variable Sex-Cord Differentiation. Lee CH, et al. Am J Surg Pathol, 2019 Jul. PMID 31094921

    See all (55) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GREB1 isoform 4 is specifically transcribed by MITF and required for melanoma proliferation.
      Title: GREB1 isoform 4 is specifically transcribed by MITF and required for melanoma proliferation.
    2. GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Kuster-Hauser syndrome.
      Title: GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Kuster-Hauser syndrome.
    3. GREB1 regulates PI3K/Akt signaling to control hormone-sensitive breast cancer proliferation.
      Title: GREB1 regulates PI3K/Akt signaling to control hormone-sensitive breast cancer proliferation.
    4. Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment.
      Title: Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment.
    5. Association between Single Nucleotide Polymorphisms and Endometriosis in a Brazilian Population.", trans "Associacao de polimorfismos de unico nucleotideo com a endometriose em uma populacao brasileira.
      Title: Association between Single Nucleotide Polymorphisms and Endometriosis in a Brazilian Population.
    6. Oncogenic mutation in RAS-RAF axis leads to increased expression of GREB1, resulting in tumor proliferation in colorectal cancer.
      Title: Oncogenic mutation in RAS-RAF axis leads to increased expression of GREB1, resulting in tumor proliferation in colorectal cancer.
    7. NCOA6 associates with the GREB1 promoter and enhancer in an E2-independent manner and that NCOA6 knockout reduces chromatin looping, enhancer-promoter interactions, and basal GREB1 expression in the absence of estradiol.
      Title: The transcriptional co-activator NCOA6 promotes estrogen-induced GREB1 transcription by recruiting ERα and enhancing enhancer-promoter interactions.
    8. GREB1 knockdown in high AR output cells restores enzalutamide sensitivity in vivo.
      Title: GREB1 amplifies androgen receptor output in human prostate cancer and contributes to antiandrogen resistance.
    9. we focused on estrogen stimulation of the well-characterized GREB1 and MYC target genes that revealed large differences in cell-by-cell responses, and, more interestingly, between alleles within the same cell, both over time and hormone concentration.
      Title: Estrogen-induced transcription at individual alleles is independent of receptor level and active conformation but can be modulated by coactivators activity.
    10. GREB1-rearranged uterine sarcomas involved significantly older women, tended to be larger and more mitotically active, showed more variable and often inconspicuous sex-cord differentiation, and appeared to behave more aggressively.
      Title: Clinicopathologic Characterization of GREB1-rearranged Uterine Sarcomas With Variable Sex-Cord Differentiation.
    Submit: New GeneRIF Correction See all GeneRIFs (38)

    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

    EBI GWAS Catalog

    Description
    Genome-wide association meta-analysis identifies new endometriosis risk loci.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See Variation Viewer (GRCh37.p13)

    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

    Clone Names

    • KIAA0575

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in multicellular organism development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    protein GREB1
    Names
    gene regulated by estrogen in breast cancer
    gene regulated in breast cancer 1 protein
    growth regulation by estrogen in breast cancer 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_029429.2 RefSeqGene

      Range
      56159..164902
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014668.4 → NP_055483.2  protein GREB1 isoform a

      See identical proteins and their annotated locations for NP_055483.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (a) encodes the longest isoform (a).
      Source sequence(s)
      AC011994, AC110754
      Consensus CDS
      CCDS42655.1
      UniProtKB/Swiss-Prot
      A6NHD0, A6NKN0, B5MDA9, O60321, Q4ZG55, Q7Z5S2, Q9H2Q6, Q9H2Q7, Q9H2Q8
      Related
      ENSP00000370896.2, ENST00000381486.7
      Conserved Domains (1) summary
      pfam15782
      Location:1 → 1949
      GREB1; Gene regulated by oestrogen in breast cancer

    2. NM_033090.3 → NP_149081.1  protein GREB1 isoform b

      See identical proteins and their annotated locations for NP_149081.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (b) contains alternate 5' and 3' UTRs, and 3' coding region, compared to variant a. This results in a shorter isoform (b) with a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC011994
      Consensus CDS
      CCDS33146.1
      UniProtKB/Swiss-Prot
      Q4ZG55
      Related
      ENSP00000370892.2, ENST00000381483.6
      Conserved Domains (1) summary
      pfam15782
      Location:1 → 449
      GREB1; Gene regulated by oestrogen in breast cancer

    3. NM_148903.3 → NP_683701.2  protein GREB1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (c) contains alternate 5' and 3' UTRs, and 3' coding region, compared to variant a. This results in a shorter isoform (c) with a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC011994
      Consensus CDS
      CCDS33147.1
      UniProtKB/Swiss-Prot
      Q4ZG55
      Related
      ENSP00000263834.5, ENST00000263834.9
      Conserved Domains (1) summary
      pfam15782
      Location:1 → 386
      GREB1; Gene regulated by oestrogen in breast cancer

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      11482888..11642788
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047446466.1 → XP_047302422.1  protein GREB1 isoform X3

    2. XM_024453251.2 → XP_024309019.1  protein GREB1 isoform X1

      UniProtKB/Swiss-Prot
      A6NHD0, A6NKN0, B5MDA9, O60321, Q4ZG55, Q7Z5S2, Q9H2Q6, Q9H2Q7, Q9H2Q8
      Conserved Domains (1) summary
      pfam15782
      Location:1 → 1949
      GREB1; Gene regulated by oestrogen in breast cancer

    3. XM_047446468.1 → XP_047302424.1  protein GREB1 isoform X4

    4. XM_047446462.1 → XP_047302418.1  protein GREB1 isoform X2

    5. XM_047446474.1 → XP_047302430.1  protein GREB1 isoform X9

    6. XM_047446460.1 → XP_047302416.1  protein GREB1 isoform X1

      UniProtKB/Swiss-Prot
      A6NHD0, A6NKN0, B5MDA9, O60321, Q4ZG55, Q7Z5S2, Q9H2Q6, Q9H2Q7, Q9H2Q8
      Related
      ENSP00000234142.5, ENST00000234142.9

    7. XM_047446465.1 → XP_047302421.1  protein GREB1 isoform X2

    8. XM_047446475.1 → XP_047302431.1  protein GREB1 isoform X9

    9. XM_024453256.2 → XP_024309024.1  protein GREB1 isoform X1

      UniProtKB/Swiss-Prot
      A6NHD0, A6NKN0, B5MDA9, O60321, Q4ZG55, Q7Z5S2, Q9H2Q6, Q9H2Q7, Q9H2Q8
      Conserved Domains (1) summary
      pfam15782
      Location:1 → 1949
      GREB1; Gene regulated by oestrogen in breast cancer

    10. XM_047446464.1 → XP_047302420.1  protein GREB1 isoform X2

    11. XM_047446473.1 → XP_047302429.1  protein GREB1 isoform X9

    12. XM_011510418.4 → XP_011508720.1  protein GREB1 isoform X3

      Conserved Domains (1) summary
      pfam15782
      Location:1 → 1948
      GREB1; Gene regulated by oestrogen in breast cancer

    13. XM_024453250.2 → XP_024309018.1  protein GREB1 isoform X1

      UniProtKB/Swiss-Prot
      A6NHD0, A6NKN0, B5MDA9, O60321, Q4ZG55, Q7Z5S2, Q9H2Q6, Q9H2Q7, Q9H2Q8
      Conserved Domains (1) summary
      pfam15782
      Location:1 → 1949
      GREB1; Gene regulated by oestrogen in breast cancer

    14. XM_011510419.4 → XP_011508721.1  protein GREB1 isoform X2

      Conserved Domains (1) summary
      pfam15782
      Location:1 → 1948
      GREB1; Gene regulated by oestrogen in breast cancer

    15. XM_047446469.1 → XP_047302425.1  protein GREB1 isoform X5

    16. XM_047446470.1 → XP_047302426.1  protein GREB1 isoform X8

    17. XM_011510423.4 → XP_011508725.1  protein GREB1 isoform X9

      See identical proteins and their annotated locations for XP_011508725.1

      UniProtKB/Swiss-Prot
      Q4ZG55
      Conserved Domains (1) summary
      pfam15782
      Location:1 → 449
      GREB1; Gene regulated by oestrogen in breast cancer

    18. XM_047446467.1 → XP_047302423.1  protein GREB1 isoform X3

    19. XM_005246192.5 → XP_005246249.1  protein GREB1 isoform X1

      See identical proteins and their annotated locations for XP_005246249.1

      UniProtKB/Swiss-Prot
      A6NHD0, A6NKN0, B5MDA9, O60321, Q4ZG55, Q7Z5S2, Q9H2Q6, Q9H2Q7, Q9H2Q8
      Conserved Domains (1) summary
      pfam15782
      Location:1 → 1949
      GREB1; Gene regulated by oestrogen in breast cancer

    20. XM_047446461.1 → XP_047302417.1  protein GREB1 isoform X2

    21. XM_024453253.2 → XP_024309021.1  protein GREB1 isoform X1

      UniProtKB/Swiss-Prot
      A6NHD0, A6NKN0, B5MDA9, O60321, Q4ZG55, Q7Z5S2, Q9H2Q6, Q9H2Q7, Q9H2Q8
      Conserved Domains (1) summary
      pfam15782
      Location:1 → 1949
      GREB1; Gene regulated by oestrogen in breast cancer

    22. XM_047446463.1 → XP_047302419.1  protein GREB1 isoform X2

    23. XM_047446471.1 → XP_047302427.1  protein GREB1 isoform X9

    24. XM_047446472.1 → XP_047302428.1  protein GREB1 isoform X9

    25. XM_011510422.2 → XP_011508724.1  protein GREB1 isoform X6

      Conserved Domains (1) summary
      pfam15782
      Location:1 → 1073
      GREB1; Gene regulated by oestrogen in breast cancer

    26. XM_005246196.3 → XP_005246253.1  protein GREB1 isoform X7

      Related
      ENSP00000379429.1, ENST00000396123.2
      Conserved Domains (1) summary
      pfam15782
      Location:1 → 1038
      GREB1; Gene regulated by oestrogen in breast cancer

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      11514740..11675937
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344699.1 → XP_054200674.1  protein GREB1 isoform X1

    2. XM_054344694.1 → XP_054200669.1  protein GREB1 isoform X1

    3. XM_054344696.1 → XP_054200671.1  protein GREB1 isoform X1

    4. XM_054344720.1 → XP_054200695.1  protein GREB1 isoform X9

    5. XM_054344706.1 → XP_054200681.1  protein GREB1 isoform X3

    6. XM_054344709.1 → XP_054200684.1  protein GREB1 isoform X4

    7. XM_054344702.1 → XP_054200677.1  protein GREB1 isoform X2

    8. XM_054344695.1 → XP_054200670.1  protein GREB1 isoform X1

    9. XM_054344707.1 → XP_054200682.1  protein GREB1 isoform X2

    10. XM_054344719.1 → XP_054200694.1  protein GREB1 isoform X9

    11. XM_054344698.1 → XP_054200673.1  protein GREB1 isoform X1

    12. XM_054344697.1 → XP_054200672.1  protein GREB1 isoform X1

    13. XM_054344704.1 → XP_054200679.1  protein GREB1 isoform X2

    14. XM_054344717.1 → XP_054200692.1  protein GREB1 isoform X9

    15. XM_054344705.1 → XP_054200680.1  protein GREB1 isoform X3

    16. XM_054344690.1 → XP_054200665.1  protein GREB1 isoform X1

    17. XM_054344700.1 → XP_054200675.1  protein GREB1 isoform X2

    18. XM_054344710.1 → XP_054200685.1  protein GREB1 isoform X5

    19. XM_054344713.1 → XP_054200688.1  protein GREB1 isoform X8

    20. XM_054344714.1 → XP_054200689.1  protein GREB1 isoform X9

    21. XM_054344693.1 → XP_054200668.1  protein GREB1 isoform X1

    22. XM_054344718.1 → XP_054200693.1  protein GREB1 isoform X9

    23. XM_054344708.1 → XP_054200683.1  protein GREB1 isoform X3

    24. XM_054344701.1 → XP_054200676.1  protein GREB1 isoform X2

    25. XM_054344691.1 → XP_054200666.1  protein GREB1 isoform X1

    26. XM_054344715.1 → XP_054200690.1  protein GREB1 isoform X9

    27. XM_054344692.1 → XP_054200667.1  protein GREB1 isoform X1

    28. XM_054344703.1 → XP_054200678.1  protein GREB1 isoform X2

    29. XM_054344716.1 → XP_054200691.1  protein GREB1 isoform X9

    30. XM_054344711.1 → XP_054200686.1  protein GREB1 isoform X6

    31. XM_054344712.1 → XP_054200687.1  protein GREB1 isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4ZG55.1 GenPept UniProtKB/Swiss-Prot:Q4ZG55

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