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

Gene ID: 80000, updated on 13-Aug-2022

Summary

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

See GREB1L in Genome Data Viewer
Location:
18q11.1-q11.2
Exon count:
35
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (21242232..21526112)
110 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 uncharacterized LOC101927521 Neighboring gene small nucleolar RNA SNORD23 Neighboring gene establishment of sister chromatid cohesion N-acetyltransferase 1 Neighboring gene Sharpr-MPRA regulatory region 3945 Neighboring gene small nuclear ribonucleoprotein D1 polypeptide

Genomic regions, transcripts, and products

Expression

  • 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
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 integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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_001142966.3NP_001136438.1  GREB1-like protein

    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
    Q9C091, Q9H8F1
    Related
    ENSP00000412060.1, ENST00000424526.7
    Conserved Domains (1) summary
    pfam15782
    Location:11923
    GREB1; Gene regulated by oestrogen in breast cancer

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_006722547.4XP_006722610.1  GREB1-like protein isoform X5

    See identical proteins and their annotated locations for XP_006722610.1

    Conserved Domains (1) summary
    pfam15782
    Location:11967
    GREB1; Gene regulated by oestrogen in breast cancer
  2. XM_011526179.4XP_011524481.1  GREB1-like protein isoform X12

    Conserved Domains (1) summary
    pfam15782
    Location:11900
    GREB1; Gene regulated by oestrogen in breast cancer
  3. XM_047437812.1XP_047293768.1  GREB1-like protein isoform X6

    Related
    ENSP00000463926.2, ENST00000579454.2
  4. XM_047437816.1XP_047293772.1  GREB1-like protein isoform X9

  5. XM_047437819.1XP_047293775.1  GREB1-like protein isoform X11

  6. XM_047437823.1XP_047293779.1  GREB1-like protein isoform X17

    Related
    ENSP00000269218.6, ENST00000269218.10
  7. XM_047437818.1XP_047293774.1  GREB1-like protein isoform X11

  8. XM_047437809.1XP_047293765.1  GREB1-like protein isoform X1

  9. XM_017025990.2XP_016881479.1  GREB1-like protein isoform X2

  10. XM_017025991.2XP_016881480.1  GREB1-like protein isoform X3

  11. XM_047437811.1XP_047293767.1  GREB1-like protein isoform X4

  12. XM_017025994.2XP_016881483.1  GREB1-like protein isoform X13

  13. XM_017025995.2XP_016881484.1  GREB1-like protein isoform X14

  14. XM_047437813.1XP_047293769.1  GREB1-like protein isoform X7

  15. XM_047437815.1XP_047293771.1  GREB1-like protein isoform X8

  16. XM_047437817.1XP_047293773.1  GREB1-like protein isoform X10

  17. XM_017025996.2XP_016881485.1  GREB1-like protein isoform X16

  18. XM_017025989.2XP_016881478.1  GREB1-like protein isoform X1

  19. XM_017025993.2XP_016881482.1  GREB1-like protein isoform X7

  20. XM_047437826.1XP_047293782.1  GREB1-like protein isoform X20

  21. XM_047437824.1XP_047293780.1  GREB1-like protein isoform X18

  22. XM_047437825.1XP_047293781.1  GREB1-like protein isoform X19

  23. XM_047437827.1XP_047293783.1  GREB1-like protein isoform X21

  24. XM_047437821.1XP_047293777.1  GREB1-like protein isoform X15

  25. XM_047437810.1XP_047293766.1  GREB1-like protein isoform X1

  26. XM_047437820.1XP_047293776.1  GREB1-like protein isoform X13

  27. XM_047437814.1XP_047293770.1  GREB1-like protein isoform X7

  28. XM_047437822.1XP_047293778.1  GREB1-like protein isoform X16

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

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

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.