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    GREB1L GREB1 like retinoic acid receptor coactivator [ Homo sapiens (human) ]

    Gene ID: 80000, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GREB1Lprovided by HGNC
    Official Full Name
    GREB1 like retinoic acid receptor coactivatorprovided by HGNC
    Primary source
    HGNC:HGNC:31042
    See related
    Ensembl:ENSG00000141449 MIM:617782; AllianceGenome:HGNC:31042
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RHDA3; DFNA80; C18orf6; KIAA1772
    Summary
    Acts upstream of or within kidney development. Predicted to be located in membrane. Implicated in autosomal dominant nonsyndromic deafness and renal agenesis. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 2.5), thyroid (RPKM 1.4) and 11 other tissues See more
    Orthologs
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    Genomic context

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    See GREB1L in Genome Data Viewer
    Location:
    18q11.1-q11.2
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (21242232..21526112)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (21427291..21711206)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (18822193..19106073)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985161 Neighboring gene EXOG pseudogene 1 Neighboring gene GREB1L divergent transcript Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:18842887-18843414 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:18922270-18922868 Neighboring gene uncharacterized LOC101927521 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:18966717-18967517 Neighboring gene NANOG hESC enhancer GRCh37_chr18:18970956-18971808 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:18981989-18982490 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:18982491-18982990 Neighboring gene small nucleolar RNA SNORD23 Neighboring gene establishment of sister chromatid cohesion N-acetyltransferase 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr18:19171613-19172342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:19173073-19173800 Neighboring gene Sharpr-MPRA regulatory region 3945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13133 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13134 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13135 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9341 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13136 Neighboring gene small nuclear ribonucleoprotein D1 polypeptide

    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. The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease. Zhao E, et al. Prenat Diagn, 2024 Mar. PMID 38285371, Free PMC Article
    2. GREB1L overexpression is associated with good clinical outcomes in breast cancer. Dong K, et al. Eur J Med Res, 2023 Nov 14. PMID 37964281, Free PMC Article
    3. Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome. Jolly A, et al. HGG Adv, 2023 Jul 13. PMID 37124138, Free PMC Article
    4. A novel missense mutation in GREB1L identified in a three-generation family with renal hypodysplasia/aplasia-3. Wu S, et al. Orphanet J Rare Dis, 2022 Nov 12. PMID 36371238, Free PMC Article
    5. A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana. Adadey SM, et al. BMC Med Genomics, 2022 Nov 10. PMID 36357908, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Whole exome sequencing reveals two novel mutations in GREB1L in two Chinese families with renal agenesis.
      Title: Whole exome sequencing reveals two novel mutations in GREB1L in two Chinese families with renal agenesis.
    2. The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease.
      Title: The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease.
    3. GREB1L overexpression is associated with good clinical outcomes in breast cancer.
      Title: GREB1L overexpression is associated with good clinical outcomes in breast cancer.
    4. Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Kuster-Hauser syndrome.
      Title: Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome.
    5. A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana.
      Title: A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana.
    6. A novel missense mutation in GREB1L identified in a three-generation family with renal hypodysplasia/aplasia-3.
      Title: A novel missense mutation in GREB1L identified in a three-generation family with renal hypodysplasia/aplasia-3.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hearing loss, autosomal dominant 80
    MedGen: C5543289 OMIM: 619274 GeneReviews: Not available
    		Compare labs
    Renal hypodysplasia/aplasia 3
    MedGen: C4540497 OMIM: 617805 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    • KIAA1772

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in branching involved in ureteric bud morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cardiac ventricle development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in kidney development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within kidney development IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in kidney development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in male genitalia development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mesonephric duct development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in metanephros development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in morphogenesis of an epithelium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in paramesonephric duct development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in uterus development IEA
    Inferred from Electronic Annotation
    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
    GREB1-like protein
    Names
    growth regulation by estrogen in breast cancer 1 like
    growth regulation by estrogen in breast cancer 1-like protein
    growth regulation by estrogen in breast cancer-like

    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_001142966.3 → NP_001136438.1  GREB1-like protein isoform 2

      See identical proteins and their annotated locations for NP_001136438.1

      Status: VALIDATED

      Source sequence(s)
      AC011774, AC015878, AC022809
      Consensus CDS
      CCDS45836.1
      UniProtKB/Swiss-Prot
      A4QN17, Q9C091, Q9H8F1
      Related
      ENSP00000412060.1, ENST00000424526.7
      Conserved Domains (1) summary
      pfam15782
      Location:1 → 1923
      GREB1; Gene regulated by oestrogen in breast cancer

    2. NM_001410867.1 → NP_001397796.1  GREB1-like protein isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC011774, AC015878, AC022809
      Consensus CDS
      CCDS92442.1
      UniProtKB/TrEMBL
      J3QQW0
      Related
      ENSP00000463926.2, ENST00000579454.2

    3. NM_001410868.1 → NP_001397797.1  GREB1-like protein isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC011774, AC015878, AC022809
      Consensus CDS
      CCDS92443.1
      Related
      ENSP00000269218.6, ENST00000269218.10

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      21242232..21526112
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006722547.4 → XP_006722610.1  GREB1-like protein isoform X5

      See identical proteins and their annotated locations for XP_006722610.1

      Conserved Domains (1) summary
      pfam15782
      Location:1 → 1967
      GREB1; Gene regulated by oestrogen in breast cancer

    2. XM_011526179.4 → XP_011524481.1  GREB1-like protein isoform X11

      Conserved Domains (1) summary
      pfam15782
      Location:1 → 1900
      GREB1; Gene regulated by oestrogen in breast cancer

    3. XM_047437816.1 → XP_047293772.1  GREB1-like protein isoform X8

    4. XM_047437819.1 → XP_047293775.1  GREB1-like protein isoform X10

    5. XM_047437818.1 → XP_047293774.1  GREB1-like protein isoform X10

    6. XM_047437809.1 → XP_047293765.1  GREB1-like protein isoform X1

    7. XM_017025990.2 → XP_016881479.1  GREB1-like protein isoform X2

    8. XM_017025991.2 → XP_016881480.1  GREB1-like protein isoform X3

    9. XM_047437811.1 → XP_047293767.1  GREB1-like protein isoform X4

    10. XM_017025994.2 → XP_016881483.1  GREB1-like protein isoform X12

    11. XM_017025995.2 → XP_016881484.1  GREB1-like protein isoform X13

    12. XM_047437813.1 → XP_047293769.1  GREB1-like protein isoform X6

    13. XM_047437815.1 → XP_047293771.1  GREB1-like protein isoform X7

    14. XM_047437817.1 → XP_047293773.1  GREB1-like protein isoform X9

    15. XM_017025996.2 → XP_016881485.1  GREB1-like protein isoform X15

    16. XM_017025989.2 → XP_016881478.1  GREB1-like protein isoform X1

    17. XM_017025993.2 → XP_016881482.1  GREB1-like protein isoform X6

    18. XM_047437826.1 → XP_047293782.1  GREB1-like protein isoform X18

    19. XM_047437824.1 → XP_047293780.1  GREB1-like protein isoform X16

    20. XM_047437825.1 → XP_047293781.1  GREB1-like protein isoform X17

    21. XM_047437827.1 → XP_047293783.1  GREB1-like protein isoform X19

    22. XM_047437821.1 → XP_047293777.1  GREB1-like protein isoform X14

    23. XM_047437810.1 → XP_047293766.1  GREB1-like protein isoform X1

    24. XM_047437820.1 → XP_047293776.1  GREB1-like protein isoform X12

    25. XM_047437814.1 → XP_047293770.1  GREB1-like protein isoform X6

    26. XM_047437822.1 → XP_047293778.1  GREB1-like protein isoform X15

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      21427291..21711206
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319130.1 → XP_054175105.1  GREB1-like protein isoform X5

    2. XM_054319139.1 → XP_054175114.1  GREB1-like protein isoform X11

    3. XM_054319135.1 → XP_054175110.1  GREB1-like protein isoform X8

    4. XM_054319138.1 → XP_054175113.1  GREB1-like protein isoform X10

    5. XM_054319137.1 → XP_054175112.1  GREB1-like protein isoform X10

    6. XM_054319125.1 → XP_054175100.1  GREB1-like protein isoform X1

    7. XM_054319127.1 → XP_054175102.1  GREB1-like protein isoform X2

    8. XM_054319128.1 → XP_054175103.1  GREB1-like protein isoform X3

    9. XM_054319129.1 → XP_054175104.1  GREB1-like protein isoform X4

    10. XM_054319140.1 → XP_054175115.1  GREB1-like protein isoform X12

    11. XM_054319142.1 → XP_054175117.1  GREB1-like protein isoform X13

    12. XM_054319131.1 → XP_054175106.1  GREB1-like protein isoform X6

    13. XM_054319134.1 → XP_054175109.1  GREB1-like protein isoform X7

    14. XM_054319136.1 → XP_054175111.1  GREB1-like protein isoform X9

    15. XM_054319144.1 → XP_054175119.1  GREB1-like protein isoform X15

    16. XM_054319126.1 → XP_054175101.1  GREB1-like protein isoform X1

    17. XM_054319132.1 → XP_054175107.1  GREB1-like protein isoform X6

    18. XM_054319147.1 → XP_054175122.1  GREB1-like protein isoform X18

    19. XM_054319146.1 → XP_054175121.1  GREB1-like protein isoform X17

    20. XM_054319148.1 → XP_054175123.1  GREB1-like protein isoform X19

    21. XM_054319141.1 → XP_054175116.1  GREB1-like protein isoform X12

    22. XM_054319143.1 → XP_054175118.1  GREB1-like protein isoform X14

    23. XM_054319133.1 → XP_054175108.1  GREB1-like protein isoform X6

    24. XM_054319145.1 → XP_054175120.1  GREB1-like protein isoform X15

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_024935.2: Suppressed sequence

      Description
      NM_024935.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate and currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9C091.2 GenPept UniProtKB/Swiss-Prot:Q9C091

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