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

Gene ID: 9687, updated on 4-Oct-2020

Summary

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
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

Genomic context

See GREB1 in Genome Data Viewer
Location:
2p25.1
Exon count:
43
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (11481675..11642788)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (11674242..11782914)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373429 Neighboring gene E2F transcription factor 6 Neighboring gene RNA, 5S ribosomal pseudogene 84 Neighboring gene tRNA-Gly (CCC) 7-1 Neighboring gene microRNA 4429 Neighboring gene RNA, U2 small nuclear 13, pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 85 Neighboring gene RNA, 7SL, cytoplasmic 674, pseudogene Neighboring gene uncharacterized LOC100506405 Neighboring gene neurotensin receptor 2 Neighboring gene cyclin dependent kinase 8 pseudogene 1 Neighboring gene lipin 1

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association meta-analysis identifies new endometriosis risk loci.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0575

Gene Ontology Provided by GOA

Component Evidence Code Pubs
extracellular exosome HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

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)

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_029429.1 RefSeqGene

    Range
    4930..113673
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014668.4NP_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
    Q4ZG55
    Related
    ENSP00000370896.2, ENST00000381486.7
    Conserved Domains (1) summary
    pfam15782
    Location:11949
    GREB1; Gene regulated by oestrogen in breast cancer
  2. NM_033090.3NP_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:1449
    GREB1; Gene regulated by oestrogen in breast cancer
  3. NM_148903.3NP_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:1386
    GREB1; Gene regulated by oestrogen in breast cancer

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    11481675..11642788
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453254.1XP_024309022.1  protein GREB1 isoform X1

    Related
    ENSP00000234142.5, ENST00000234142.9
    Conserved Domains (1) summary
    pfam15782
    Location:11949
    GREB1; Gene regulated by oestrogen in breast cancer
  2. XM_024453251.1XP_024309019.1  protein GREB1 isoform X1

    Conserved Domains (1) summary
    pfam15782
    Location:11949
    GREB1; Gene regulated by oestrogen in breast cancer
  3. XM_024453256.1XP_024309024.1  protein GREB1 isoform X1

    Conserved Domains (1) summary
    pfam15782
    Location:11949
    GREB1; Gene regulated by oestrogen in breast cancer
  4. XM_024453255.1XP_024309023.1  protein GREB1 isoform X1

    Conserved Domains (1) summary
    pfam15782
    Location:11949
    GREB1; Gene regulated by oestrogen in breast cancer
  5. XM_011510418.3XP_011508720.1  protein GREB1 isoform X3

    Conserved Domains (1) summary
    pfam15782
    Location:11948
    GREB1; Gene regulated by oestrogen in breast cancer
  6. XM_011510419.3XP_011508721.1  protein GREB1 isoform X2

    Conserved Domains (1) summary
    pfam15782
    Location:11948
    GREB1; Gene regulated by oestrogen in breast cancer
  7. XM_024453250.1XP_024309018.1  protein GREB1 isoform X1

    Conserved Domains (1) summary
    pfam15782
    Location:11949
    GREB1; Gene regulated by oestrogen in breast cancer
  8. XM_011510423.3XP_011508725.1  protein GREB1 isoform X6

    See identical proteins and their annotated locations for XP_011508725.1

    UniProtKB/Swiss-Prot
    Q4ZG55
    Conserved Domains (1) summary
    pfam15782
    Location:1449
    GREB1; Gene regulated by oestrogen in breast cancer
  9. XM_024453252.1XP_024309020.1  protein GREB1 isoform X1

    Conserved Domains (1) summary
    pfam15782
    Location:11949
    GREB1; Gene regulated by oestrogen in breast cancer
  10. XM_024453253.1XP_024309021.1  protein GREB1 isoform X1

    Conserved Domains (1) summary
    pfam15782
    Location:11949
    GREB1; Gene regulated by oestrogen in breast cancer
  11. XM_005246192.4XP_005246249.1  protein GREB1 isoform X1

    See identical proteins and their annotated locations for XP_005246249.1

    UniProtKB/Swiss-Prot
    Q4ZG55
    Conserved Domains (1) summary
    pfam15782
    Location:11949
    GREB1; Gene regulated by oestrogen in breast cancer
  12. XM_011510422.2XP_011508724.1  protein GREB1 isoform X4

    Conserved Domains (1) summary
    pfam15782
    Location:11073
    GREB1; Gene regulated by oestrogen in breast cancer
  13. XM_005246196.3XP_005246253.1  protein GREB1 isoform X5

    Related
    ENSP00000379429.1, ENST00000396123.2
    Conserved Domains (1) summary
    pfam15782
    Location:11038
    GREB1; Gene regulated by oestrogen in breast cancer

RNA

  1. XR_001739081.2 RNA Sequence

  2. XR_922686.3 RNA Sequence

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