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

Gene ID: 80000, updated on 7-Apr-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 integral component of membrane. Implicated in autosomal dominant nonsyndromic deafness and renal agenesis. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
18q11.1-q11.2
Exon count:
35
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (21242232..21526112)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (21427291..21711206)
105.20220307 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. 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
  2. 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
  3. 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
  4. A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans. Brophy PD, et al. Genetics, 2017 Sep. PMID 28739660, Free PMC Article
  5. Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. Sanna-Cherchi S, et al. Am J Hum Genet, 2017 Nov 2. PMID 29100090, Free PMC Article

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. GREB1L overexpression is associated with good clinical outcomes in breast cancer.
    Title: GREB1L overexpression is associated with good clinical outcomes in breast cancer.
  3. 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.
  4. 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.
  5. 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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

Genotypes

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 multicellular organism development 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_2023_10

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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