This gene encodes an adaptor protein which functions in the epidermal growth factor (EGF) receptor-mediated signaling pathway. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] See more...

Aliases for GAREM1 Gene

Aliases for GAREM1 Gene

  • GRB2 Associated Regulator Of MAPK1 Subtype 1 2 3 5
  • GRB2-Associated And Regulator Of MAPK Protein 1 3 4
  • Family With Sequence Similarity 59, Member A 2 3
  • Grb2-Associated And Regulator Of Erk/MAPK 2 3
  • GRB2-Associated And Regulator Of MAPK1 3 4
  • GRB2 Associated, Regulator Of MAPK1 2 3
  • C18orf11 3 4
  • FAM59A 3 4
  • GAREM 3 4
  • GRB2 Associated Regulator Of MAPK1 1 3
  • Chromosome 18 Open Reading Frame 11 2
  • Protein FAM59A 3
  • Gm944 3

External Ids for GAREM1 Gene

Previous HGNC Symbols for GAREM1 Gene

  • C18orf11
  • FAM59A
  • GAREM

Summaries for GAREM1 Gene

Entrez Gene Summary for GAREM1 Gene

  • This gene encodes an adaptor protein which functions in the epidermal growth factor (EGF) receptor-mediated signaling pathway. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

GeneCards Summary for GAREM1 Gene

GAREM1 (GRB2 Associated Regulator Of MAPK1 Subtype 1) is a Protein Coding gene. Diseases associated with GAREM1 include Bejel and Yaws. An important paralog of this gene is GAREM2.

UniProtKB/Swiss-Prot Summary for GAREM1 Gene

  • [Isoform 1]: Acts as an adapter protein that plays a role in intracellular signaling cascades triggered either by the cell surface activated epidermal growth factor receptor and/or cytoplasmic protein tyrosine kinases. Promotes activation of the MAPK/ERK signaling pathway. Plays a role in the regulation of cell proliferation.

Additional gene information for GAREM1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GAREM1 Gene

Genomics for GAREM1 Gene

GeneHancer (GH) Regulatory Elements for GAREM1 Gene

Promoters and enhancers for GAREM1 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
GH18J032468 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.9 882 4 EP300 CTCF NRF1 POLR2G JUND FOS ZFX ZIC2 POLR2A ZBTB26 ENSG00000285095 GAREM1 piR-31199-153
GH18J032348 Enhancer 0.9 ENCODE CraniofacialAtlas 5.5 +120.3 120314 3.3 FOS ZNF510 TRIM28 TEAD1 ATF2 NR3C1 FOSL2 CEBPB JUN JUND GAREM1 lnc-MEP1B-3 piR-59769-283
GH18J032381 Enhancer 1 Ensembl ENCODE 5 +88.1 88096 3.2 FOXK2 ZSCAN5C TCF12 JUND FOS FOXA1 TRIM28 SKI TEAD1 ZEB1 GAREM1 piR-59769-283 lnc-MEP1B-3
GH18J032377 Enhancer 0.9 Ensembl ENCODE 5.1 +92.3 92267 2 TCF12 FOS TRIM28 FOXA2 NR2F2 CEBPB ZBTB33 NR3C1 JUND STAT3 GAREM1 piR-59769-283 lnc-MEP1B-3
GH18J032316 Enhancer 1.1 FANTOM5 Ensembl ENCODE 4.3 +153.0 153017 2.9 TEAD1 FOXA2 CEBPB MAFF MAFK ZNF205 NR2F2 EP300 HOMEZ KDM1A GAREM1 lnc-MEP1B-3 piR-59769-283
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GAREM1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GAREM1

Genomic Locations for GAREM1 Gene

Genomic Locations for GAREM1 Gene
chr18:32,124,877-32,470,882
(GRCh38/hg38)
Size:
346,006 bases
Orientation:
Minus strand
chr18:29,704,840-30,050,447
(GRCh37/hg19)
Size:
345,608 bases
Orientation:
Minus strand

Genomic View for GAREM1 Gene

Genes around GAREM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GAREM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GAREM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GAREM1 Gene

Proteins for GAREM1 Gene

  • Protein details for GAREM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H706-GARE1_HUMAN
    Recommended name:
    GRB2-associated and regulator of MAPK protein 1
    Protein Accession:
    Q9H706
    Secondary Accessions:
    • Q0VAG3
    • Q0VAG4
    • Q8ND03
    • Q9BSF5

    Protein attributes for GAREM1 Gene

    Size:
    876 amino acids
    Molecular mass:
    97186 Da
    Quaternary structure:
    • Isoform 1 interacts with EGFR. Isoform 1 interacts (via proline-rich domain and phosphorylated at Tyr-105 and Tyr-453) with GRB2 (via SH3 domains); the interaction occurs upon EGF stimulation. Isoform 1 interacts (phosphorylated at Tyr-453) with PTPN11; the interaction increases MAPK/ERK activity and does not affect the GRB2/SOS complex formation. Isoform 2 does not interact with GRB2.
    SequenceCaution:
    • Sequence=CAD39149.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GAREM1 Gene

    Alternative splice isoforms for GAREM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GAREM1 Gene

Post-translational modifications for GAREM1 Gene

  • On EGF stimulation, phosphorylated on Tyr-105 and Tyr-453.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GAREM1 Gene

No data available for DME Specific Peptides for GAREM1 Gene

Domains & Families for GAREM1 Gene

Gene Families for GAREM1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GAREM1 Gene

Blocks:
  • Sterile alpha motif SAM
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GAREM1 Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM59A (FA59A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H706

UniProtKB/Swiss-Prot:

GARE1_HUMAN :
  • Belongs to the GAREM family.
Family:
  • Belongs to the GAREM family.
genes like me logo Genes that share domains with GAREM1: view

Function for GAREM1 Gene

Molecular function for GAREM1 Gene

UniProtKB/Swiss-Prot Function:
[Isoform 1]: Acts as an adapter protein that plays a role in intracellular signaling cascades triggered either by the cell surface activated epidermal growth factor receptor and/or cytoplasmic protein tyrosine kinases. Promotes activation of the MAPK/ERK signaling pathway. Plays a role in the regulation of cell proliferation.

Phenotypes From GWAS Catalog for GAREM1 Gene

Gene Ontology (GO) - Molecular Function for GAREM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19509291
GO:0070064 proline-rich region binding IBA,IDA 19509291
genes like me logo Genes that share ontologies with GAREM1: view
genes like me logo Genes that share phenotypes with GAREM1: view

Animal Model Products

CRISPR Products

miRNA for GAREM1 Gene

miRTarBase miRNAs that target GAREM1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GAREM1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GAREM1 Gene

Localization for GAREM1 Gene

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 GAREM1 gene
Compartment Confidence
plasma membrane 5
nucleus 3
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GAREM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane NAS 19509291
genes like me logo Genes that share ontologies with GAREM1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GAREM1 Gene

Pathways & Interactions for GAREM1 Gene

PathCards logo

SuperPathways for GAREM1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GAREM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007173 epidermal growth factor receptor signaling pathway IDA,IBA 19509291
GO:0008284 positive regulation of cell proliferation IDA 19509291
GO:0051781 positive regulation of cell division IEA --
GO:0070374 positive regulation of ERK1 and ERK2 cascade IMP 19509291
GO:0071364 cellular response to epidermal growth factor stimulus IDA 19509291
genes like me logo Genes that share ontologies with GAREM1: view

No data available for Pathways by source and SIGNOR curated interactions for GAREM1 Gene

Drugs & Compounds for GAREM1 Gene

No Compound Related Data Available

Transcripts for GAREM1 Gene

mRNA/cDNA for GAREM1 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
4 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 GAREM1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GAREM1 Gene

No ASD Table

Relevant External Links for GAREM1 Gene

GeneLoc Exon Structure for
GAREM1

Expression for GAREM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GAREM1

mRNA Expression by UniProt/SwissProt for GAREM1 Gene:

Q9H706-GARE1_HUMAN
Tissue specificity: Isoform 1 is ubiquitously expressed.

Evidence on tissue expression from TISSUES for GAREM1 Gene

  • Intestine(4.1)
  • Lung(4.1)
  • Nervous system(2.9)
genes like me logo Genes that share expression patterns with GAREM1: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for GAREM1 Gene

Orthologs for GAREM1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GAREM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM59A 30
  • 99.38 (n)
GAREM 31
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GAREM 31
  • 93 (a)
OneToOne
FAM59A 30
  • 90.42 (n)
rat
(Rattus norvegicus)
Mammalia Garem 30
  • 88.71 (n)
mouse
(Mus musculus)
Mammalia Garem 31 30
  • 87.96 (n)
OneToOne
Garem1 17
cow
(Bos Taurus)
Mammalia GAREM 31 30
  • 86.05 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GAREM 31
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GAREM 31
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves GAREM 31
  • 84 (a)
OneToOne
FAM59A 30
  • 78.44 (n)
lizard
(Anolis carolinensis)
Reptilia GAREM 31
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia garem 30
  • 73.06 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.30446 30
zebrafish
(Danio rerio)
Actinopterygii garem 31 30
  • 64.11 (n)
OneToOne
zgc55634 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 24 (a)
OneToMany
Species where no ortholog for GAREM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 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 GAREM1 Gene

ENSEMBL:
Gene Tree for GAREM1 (if available)
TreeFam:
Gene Tree for GAREM1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GAREM1: view image

Paralogs for GAREM1 Gene

Paralogs for GAREM1 Gene

genes like me logo Genes that share paralogs with GAREM1: view

Variants for GAREM1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GAREM1 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs16962974 - p.Ala490Val
rs2276374 - p.Thr720Met
rs3744921 - p.Lys291Arg
rs3891458 - p.Val580Ile
rs671138 - p.Thr243Asn

Additional dbSNP identifiers (rs#s) for GAREM1 Gene

Structural Variations from Database of Genomic Variants (DGV) for GAREM1 Gene

Variant ID Type Subtype PubMed ID
dgv11e198 CNV loss 23635498
esv2159930 CNV deletion 18987734
esv2517711 CNV loss 19546169
esv2632529 CNV deletion 19546169
esv26402 CNV gain 19812545
esv2672557 CNV deletion 23128226
esv2716949 CNV deletion 23290073
esv3555196 CNV deletion 23714750
esv3583001 CNV loss 25503493
esv3642150 CNV loss 21293372
esv3642152 CNV loss 21293372
nsv1056007 CNV gain 25217958
nsv1118785 CNV deletion 24896259
nsv482915 CNV gain 15286789
nsv528846 CNV gain 19592680
nsv576637 CNV loss 21841781
nsv576638 CNV loss 21841781
nsv576639 CNV loss 21841781
nsv820046 CNV gain 19587683
nsv821392 CNV deletion 20802225
nsv828205 CNV loss 20364138
nsv828206 CNV gain 20364138
nsv833616 CNV gain 17160897
nsv961041 CNV duplication 23825009
nsv9623 CNV gain 18304495

Variation tolerance for GAREM1 Gene

Residual Variation Intolerance Score: 15.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.14; 75.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GAREM1 Gene

Human Gene Mutation Database (HGMD)
GAREM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GAREM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GAREM1 Gene

Disorders for GAREM1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for GAREM1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
bejel
  • njovera
yaws
  • bouba
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GAREM1

genes like me logo Genes that share disorders with GAREM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GAREM1 Gene

Publications for GAREM1 Gene

  1. GAREM, a novel adaptor protein for growth factor receptor-bound protein 2, contributes to cellular transformation through the activation of extracellular signal-regulated kinase signaling. (PMID: 19509291) Tashiro K … Konishi H (The Journal of biological chemistry 2009) 2 3 4 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. GAREM1 regulates the PR interval on electrocardiograms. (PMID: 29273731) Kim HO … Oh B (Journal of human genetics 2018) 3 54
  5. MicroRNA-128 contributes to the progression of gastric carcinoma through GAREM-mediated MAPK signaling activation. (PMID: 30177387) Han L … Sun G (Biochemical and biophysical research communications 2018) 3 54

Products for GAREM1 Gene

Sources for GAREM1 Gene