Aliases for GREB1L Gene

Aliases for GREB1L Gene

  • GREB1 Like Retinoic Acid Receptor Coactivator 2 3 5
  • KIAA1772 2 3 4
  • Growth Regulation By Estrogen In Breast Cancer 1-Like Protein 3 4
  • Growth Regulation By Estrogen In Breast Cancer 1 Like 2 3
  • GREB1-Like Protein 3 4
  • C18orf6 3 4
  • Growth Regulation By Estrogen In Breast Cancer-Like 3
  • RHDA3 3

External Ids for GREB1L Gene

Previous HGNC Symbols for GREB1L Gene

  • KIAA1772

Previous GeneCards Identifiers for GREB1L Gene

  • GC18P017077
  • GC18P018823
  • GC18P015669

Summaries for GREB1L Gene

GeneCards Summary for GREB1L Gene

GREB1L (GREB1 Like Retinoic Acid Receptor Coactivator) is a Protein Coding gene. Diseases associated with GREB1L include Renal Hypodysplasia/Aplasia 3 and Renal Agenesis, Bilateral. An important paralog of this gene is GREB1.

UniProtKB/Swiss-Prot Summary for GREB1L Gene

Additional gene information for GREB1L Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GREB1L Gene

Genomics for GREB1L Gene

GeneHancer (GH) Regulatory Elements for GREB1L Gene

Promoters and enhancers for GREB1L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J021241 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.4 351 2.8 ZFX CTCF ZIC2 ZBTB26 SAP30 ZNF341 ZNF585B KLF9 SMC3 ZNF263 ENSG00000265984 GREB1L LOC101927496 ABHD3
GH18J021240 Promoter 0.5 CraniofacialAtlas 500.7 -1.3 -1302 0.2 EGR2 EZH2 ENSG00000265984 GREB1L LOC101927496 RF00017-2632
GH18J021262 Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.9 +21.5 21527 7.9 NCOR1 TEAD1 FOXA2 OSR2 ZNF316 MAFF REST SAP130 MAFK SPI1 GREB1L LOC101927496 piR-56497-067
GH18J021184 Enhancer 0.6 ENCODE 10.6 -57.6 -57647 0.2 ZNF217 CUX1 GATAD2B CTBP1 JUND ELF1 GATA3 DPF2 ESR1 TCF7L2 EXOGP1 lnc-ROCK1-3 GREB1L piR-50437-300
GH18J022031 Enhancer 1.2 Ensembl ENCODE dbSUPER 4.9 +790.3 790270 2.3 TCF12 FOS ZNF639 POLR2A CTBP1 OSR2 BCL11A KLF9 WT1 FOXA2 GREB1L piR-42491-104 LINC01900
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GREB1L on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GREB1L

Genomic Locations for GREB1L Gene

Genomic Locations for GREB1L Gene
chr18:21,242,242-21,525,423
(GRCh38/hg38)
Size:
283,182 bases
Orientation:
Plus strand
chr18:18,822,203-19,105,378
(GRCh37/hg19)
Size:
283,176 bases
Orientation:
Plus strand

Genomic View for GREB1L Gene

Genes around GREB1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GREB1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GREB1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GREB1L Gene

Proteins for GREB1L Gene

  • Protein details for GREB1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C091-GRB1L_HUMAN
    Recommended name:
    GREB1-like protein
    Protein Accession:
    Q9C091
    Secondary Accessions:
    • A4QN17
    • Q9H8F1

    Protein attributes for GREB1L Gene

    Size:
    1923 amino acids
    Molecular mass:
    214354 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI25018.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAB14666.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=BAB14666.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAB21863.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAB21863.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact. Spurious priming from an intronic poly-A tract.; Evidence={ECO:0000305};

    Alternative splice isoforms for GREB1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GREB1L Gene

Post-translational modifications for GREB1L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GREB1L Gene

Domains & Families for GREB1L Gene

Gene Families for GREB1L Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for GREB1L Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GREB1L Gene

GenScript: Design optimal peptide antigens:
  • GREB1-like protein (GRB1L_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9C091

UniProtKB/Swiss-Prot:

GRB1L_HUMAN :
  • Belongs to the GREB1 family.
Family:
  • Belongs to the GREB1 family.
genes like me logo Genes that share domains with GREB1L: view

Function for GREB1L Gene

Molecular function for GREB1L Gene

UniProtKB/Swiss-Prot Function:
Plays a major role in early metanephros and genital development.

Phenotypes From GWAS Catalog for GREB1L Gene

genes like me logo Genes that share phenotypes with GREB1L: view

Human Phenotype Ontology for GREB1L Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GREB1L

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for GREB1L Gene

Localization for GREB1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for GREB1L Gene

Membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GREB1L gene
Compartment Confidence
nucleus 3
mitochondrion 1
cytosol 1
plasma membrane 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GREB1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GREB1L: view

Pathways & Interactions for GREB1L Gene

PathCards logo

SuperPathways for GREB1L Gene

No Data Available

Interacting Proteins for GREB1L Gene

;

Gene Ontology (GO) - Biological Process for GREB1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001656 metanephros development IEA --
GO:0001658 branching involved in ureteric bud morphogenesis IEA --
GO:0001822 kidney development IMP,IDA 29100090
GO:0003231 cardiac ventricle development IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with GREB1L: view

No data available for Pathways by source and SIGNOR curated interactions for GREB1L Gene

Drugs & Compounds for GREB1L Gene

No Compound Related Data Available

Transcripts for GREB1L Gene

mRNA/cDNA for GREB1L Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GREB1L

Alternative Splicing Database (ASD) splice patterns (SP) for GREB1L Gene

No ASD Table

Relevant External Links for GREB1L Gene

GeneLoc Exon Structure for
GREB1L

Expression for GREB1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GREB1L Gene

mRNA differential expression in normal tissues according to GTEx for GREB1L Gene

This gene is overexpressed in Muscle - Skeletal (x4.2).

Protein differential expression in normal tissues from HIPED for GREB1L Gene

This gene is overexpressed in Colon (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GREB1L Gene



Protein tissue co-expression partners for GREB1L Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GREB1L

SOURCE GeneReport for Unigene cluster for GREB1L Gene:

Hs.149020

mRNA Expression by UniProt/SwissProt for GREB1L Gene:

Q9C091-GRB1L_HUMAN
Tissue specificity: Expressed at high levels in fetal kidney (PubMed:29100091). In adult tissues, highest levels in vagina, cervix and epididymis (PubMed:29100091).

Evidence on tissue expression from TISSUES for GREB1L Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with GREB1L: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for GREB1L Gene

Orthologs for GREB1L Gene

This gene was present in the common ancestor of chordates.

Orthologs for GREB1L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GREB1L 31 30
  • 99.51 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GREB1L 31 30
  • 91.97 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GREB1L 31 30
  • 88.83 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Greb1l 30
  • 88.04 (n)
oppossum
(Monodelphis domestica)
Mammalia GREB1L 31
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Greb1l 17 31 30
  • 87.67 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GREB1L 31
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves GREB1L 31 30
  • 79.38 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GREB1L 31
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia greb1l 30
  • 70.96 (n)
zebrafish
(Danio rerio)
Actinopterygii greb1l 31 30
  • 64.74 (n)
ManyToMany
Species where no ortholog for GREB1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GREB1L Gene

ENSEMBL:
Gene Tree for GREB1L (if available)
TreeFam:
Gene Tree for GREB1L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GREB1L: view image

Paralogs for GREB1L Gene

Paralogs for GREB1L Gene

(1) SIMAP similar genes for GREB1L Gene using alignment to 5 proteins:

  • GRB1L_HUMAN
  • H7BYW2_HUMAN
  • J3KRT4_HUMAN
  • J3QQW0_HUMAN
  • J3QR03_HUMAN
genes like me logo Genes that share paralogs with GREB1L: view

Variants for GREB1L Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GREB1L Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
684652 Association: Renal agenesis and hypodysplasia 21,383,555(+) C/T NONSENSE
684653 Association: Renal agenesis and hypodysplasia 21,395,412(+) G/A MISSENSE_VARIANT
684654 Association: Renal agenesis and hypodysplasia 21,473,129(+) G/C MISSENSE_VARIANT
684655 Association: Renal agenesis and hypodysplasia 21,496,504(+) G/C MISSENSE_VARIANT
684656 Association: Renal agenesis and hypodysplasia 21,515,506(+) A/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GREB1L Gene

Structural Variations from Database of Genomic Variants (DGV) for GREB1L Gene

Variant ID Type Subtype PubMed ID
esv2716846 CNV deletion 23290073
esv2716847 CNV deletion 23290073
esv3555124 CNV deletion 23714750
esv3641936 CNV loss 21293372
esv3641937 CNV loss 21293372
esv3641938 CNV gain 21293372
esv7076 CNV gain 19470904
nsv1058549 CNV gain 25217958
nsv1066370 CNV gain 25217958
nsv1071443 CNV deletion 25765185
nsv1077678 CNV insertion 25765185
nsv132210 CNV deletion 16902084
nsv2220 CNV deletion 18451855
nsv509686 CNV insertion 20534489
nsv833595 CNV loss 17160897

Variation tolerance for GREB1L Gene

Gene Damage Index Score: 3.77; 58.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GREB1L Gene

Human Gene Mutation Database (HGMD)
GREB1L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GREB1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GREB1L Gene

Disorders for GREB1L Gene

MalaCards: The human disease database

(5) MalaCards diseases for GREB1L Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
renal hypodysplasia/aplasia 3
  • rhda3
renal agenesis, bilateral
ear malformation
  • cup ear
renal hypodysplasia/aplasia 1
  • rhda1
cakut
  • renal hypodysplasia, nonsyndromic, 1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GRB1L_HUMAN
  • Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805]: A severe, autosomal dominant disease encompassing a spectrum of kidney development defects. Clinical manifestations are highly variable and include bilateral or unilateral renal agenesis, renal aplasia, hypoplasia, (cystic) dysplasia, severe obstructive uropathy, and vesicoureteral reflux. Bilateral renal agenesis is almost invariably fatal in utero or in the perinatal period. Unilateral renal agenesis can lead to future health issues including end-stage renal disease. {ECO:0000269 PubMed:28739660, ECO:0000269 PubMed:29100090, ECO:0000269 PubMed:29100091}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GREB1L

genes like me logo Genes that share disorders with GREB1L: view

No data available for Genatlas for GREB1L Gene

Publications for GREB1L Gene

  1. A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans. (PMID: 28739660) Brophy PD … Manak JR (Genetics 2017) 2 3 4 54
  2. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 54
  3. Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. (PMID: 29100090) Sanna-Cherchi S … Gharavi AG (American journal of human genetics 2017) 3 4 54
  4. Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice. (PMID: 29100091) De Tomasi L … Jeanpierre C (American journal of human genetics 2017) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for GREB1L Gene

Sources for GREB1L Gene