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    Greb1 gene regulated by estrogen in breast cancer protein [ Mus musculus (house mouse) ]

    Gene ID: 268527, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Greb1provided by MGI
    Official Full Name
    gene regulated by estrogen in breast cancer proteinprovided by MGI
    Primary source
    MGI:MGI:2149712
    See related
    Ensembl:ENSMUSG00000036523 AllianceGenome:MGI:2149712
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    mKIAA0575; 9130004E13; 5730583K22Rik
    Summary
    Predicted to be located in membrane. Predicted to be integral component of membrane. Is expressed in several structures, including central nervous system; genitourinary system; incisor; retina nuclear layer; and tail unsegmented mesenchyme. Orthologous to human GREB1 (growth regulating estrogen receptor binding 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in ovary adult (RPKM 76.5), adrenal adult (RPKM 16.0) and 1 other tissue See more
    Orthologs
    human all
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    Genomic context

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    Location:
    12 A1.1; 12 8.0 cM
    Exon count:
    37
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (16720616..16851395, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (16670615..16801394, complement)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_31639 Neighboring gene lipin 1 Neighboring gene STARR-seq mESC enhancer starr_31643 Neighboring gene STARR-positive B cell enhancer ABC_E11503 Neighboring gene STARR-seq mESC enhancer starr_31645 Neighboring gene neurotensin receptor 2 Neighboring gene STARR-seq mESC enhancer starr_31647 Neighboring gene E2F transcription factor 6 Neighboring gene predicted gene, 36495

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. GREB1 induced by Wnt signaling promotes development of hepatoblastoma by suppressing TGFβ signaling. Matsumoto S, et al. Nat Commun, 2019 Aug 28. PMID 31462641, Free PMC Article
    2. Growth regulation by estrogen in breast cancer 1 (GREB1) is a novel progesterone-responsive gene required for human endometrial stromal decidualization. Camden AJ, et al. Mol Hum Reprod, 2017 Sep 1. PMID 28911214, Free PMC Article
    3. PDZK1 and GREB1 are estrogen-regulated genes expressed in hormone-responsive breast cancer. Ghosh MG, et al. Cancer Res, 2000 Nov 15. PMID 11103799
    4. De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness. Schrauwen I, et al. Hum Genet, 2018 Jul. PMID 29955957, Free PMC Article
    5. Genetic, physical, and transcript map of the fld region on mouse chromosome 12. Péterfy M, et al. Genomics, 1999 Dec 15. PMID 10644441

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A GREB1-steroid receptor feedforward mechanism governs differential GREB1 action in endometrial function and endometriosis.
      Title: A GREB1-steroid receptor feedforward mechanism governs differential GREB1 action in endometrial function and endometriosis.
    2. GREB1: An evolutionarily conserved protein with a glycosyltransferase domain links ERalpha glycosylation and stability to cancer.
      Title: GREB1: An evolutionarily conserved protein with a glycosyltransferase domain links ERα glycosylation and stability to cancer.
    3. Craniofacial Greb1l RNA expression peaks in mice during this time frame (E8.5). It also peaks in the developing inner ear during E13-E16, after which it decreases in adulthood. The crucial function of Greb1l in craniofacial development is also evidenced in knockout mice, which develop severe craniofacial abnormalities
      Title: De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness.
    4. GREB1 is a novel progesterone-responsive gene required for endometrial stromal decidualization.
      Title: Growth regulation by estrogen in breast cancer 1 (GREB1) is a novel progesterone-responsive gene required for human endometrial stromal decidualization.
    5. A significant association between GREB1L variants and BKA.
      Title: Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2) 
    • Endonuclease-mediated (2)  1 citation

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in multicellular organism development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein GREB1

    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.

    mRNA and Protein(s)

    1. NM_001252071.1 → NP_001239000.1  protein GREB1 isoform 2

      See identical proteins and their annotated locations for NP_001239000.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC122228, CN536594
      Consensus CDS
      CCDS56830.1
      UniProtKB/TrEMBL
      E0CXG4
      Related
      ENSMUSP00000125339.2, ENSMUST00000159120.8
      Conserved Domains (1) summary
      pfam15782
      Location:1 → 1926
      GREB1; Gene regulated by oestrogen in breast cancer

    2. NM_015764.4 → NP_056579.2  protein GREB1 isoform 1

      See identical proteins and their annotated locations for NP_056579.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC122228, AC157352, CJ098754, CJ099922, CN536594
      Consensus CDS
      CCDS36408.1
      UniProtKB/Swiss-Prot
      E0CYB3, Q3UHK3, Q8BZT6, Q8CHE7, Q9JLG7
      Related
      ENSMUSP00000124348.2, ENSMUST00000162112.8
      Conserved Domains (1) summary
      pfam15782
      Location:1 → 1954
      GREB1; Gene regulated by oestrogen in breast cancer

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000078.7 Reference GRCm39 C57BL/6J

      Range
      16720616..16851395 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006515101.5 → XP_006515164.1  protein GREB1 isoform X4

      Conserved Domains (1) summary
      pfam15782
      Location:1 → 1858
      GREB1; Gene regulated by oestrogen in breast cancer

    2. XM_006515096.4 → XP_006515159.1  protein GREB1 isoform X1

      See identical proteins and their annotated locations for XP_006515159.1

      UniProtKB/Swiss-Prot
      E0CYB3, Q3UHK3, Q8BZT6, Q8CHE7, Q9JLG7
      Conserved Domains (1) summary
      pfam15782
      Location:1 → 1954
      GREB1; Gene regulated by oestrogen in breast cancer

    3. XM_006515100.4 → XP_006515163.1  protein GREB1 isoform X3

      See identical proteins and their annotated locations for XP_006515163.1

      UniProtKB/TrEMBL
      E0CXG4
      Conserved Domains (1) summary
      pfam15782
      Location:1 → 1926
      GREB1; Gene regulated by oestrogen in breast cancer

    4. XM_006515099.4 → XP_006515162.1  protein GREB1 isoform X2

      Conserved Domains (1) summary
      pfam15782
      Location:1 → 1953
      GREB1; Gene regulated by oestrogen in breast cancer

    5. XM_006515093.4 → XP_006515156.1  protein GREB1 isoform X1

      See identical proteins and their annotated locations for XP_006515156.1

      UniProtKB/Swiss-Prot
      E0CYB3, Q3UHK3, Q8BZT6, Q8CHE7, Q9JLG7
      Conserved Domains (1) summary
      pfam15782
      Location:1 → 1954
      GREB1; Gene regulated by oestrogen in breast cancer

    6. XM_006515097.3 → XP_006515160.1  protein GREB1 isoform X1

      See identical proteins and their annotated locations for XP_006515160.1

      UniProtKB/Swiss-Prot
      E0CYB3, Q3UHK3, Q8BZT6, Q8CHE7, Q9JLG7
      Conserved Domains (1) summary
      pfam15782
      Location:1 → 1954
      GREB1; Gene regulated by oestrogen in breast cancer

    7. XM_006515094.3 → XP_006515157.1  protein GREB1 isoform X1

      See identical proteins and their annotated locations for XP_006515157.1

      UniProtKB/Swiss-Prot
      E0CYB3, Q3UHK3, Q8BZT6, Q8CHE7, Q9JLG7
      Related
      ENSMUSP00000044454.10, ENSMUST00000048064.16
      Conserved Domains (1) summary
      pfam15782
      Location:1 → 1954
      GREB1; Gene regulated by oestrogen in breast cancer

    8. XM_006515095.3 → XP_006515158.1  protein GREB1 isoform X1

      See identical proteins and their annotated locations for XP_006515158.1

      UniProtKB/Swiss-Prot
      E0CYB3, Q3UHK3, Q8BZT6, Q8CHE7, Q9JLG7
      Conserved Domains (1) summary
      pfam15782
      Location:1 → 1954
      GREB1; Gene regulated by oestrogen in breast cancer

    9. XM_030246728.1 → XP_030102588.1  protein GREB1 isoform X5

      Conserved Domains (1) summary
      pfam15782
      Location:1 → 1070
      GREB1; Gene regulated by oestrogen in breast cancer

    10. XM_006515107.4 → XP_006515170.1  protein GREB1 isoform X10

      Conserved Domains (1) summary
      pfam15782
      Location:1 → 612
      GREB1; Gene regulated by oestrogen in breast cancer

    11. XM_006515106.4 → XP_006515169.1  protein GREB1 isoform X9

      Conserved Domains (1) summary
      pfam15782
      Location:1 → 612
      GREB1; Gene regulated by oestrogen in breast cancer

    12. XM_006515105.4 → XP_006515168.1  protein GREB1 isoform X8

      Conserved Domains (1) summary
      pfam15782
      Location:1 → 612
      GREB1; Gene regulated by oestrogen in breast cancer

    13. XM_006515104.4 → XP_006515167.1  protein GREB1 isoform X7

      Conserved Domains (1) summary
      pfam15782
      Location:1 → 750
      GREB1; Gene regulated by oestrogen in breast cancer

    14. XM_006515103.4 → XP_006515166.1  protein GREB1 isoform X6

      Conserved Domains (1) summary
      pfam15782
      Location:1 → 750
      GREB1; Gene regulated by oestrogen in breast cancer

    RNA

    1. XR_004937504.1 RNA Sequence

    2. XR_381189.5 RNA Sequence

    3. XR_872413.4 RNA Sequence

    4. XR_381190.4 RNA Sequence

    5. XR_381191.4 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3UHK3.2 GenPept UniProtKB/Swiss-Prot:Q3UHK3

    Gene LinkOut

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