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    GAREM1 GRB2 associated regulator of MAPK1 subtype 1 [ Homo sapiens (human) ]

    Gene ID: 64762, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GAREM1provided by HGNC
    Official Full Name
    GRB2 associated regulator of MAPK1 subtype 1provided by HGNC
    Primary source
    HGNC:HGNC:26136
    See related
    Ensembl:ENSG00000141441 MIM:617998; AllianceGenome:HGNC:26136
    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
    Also known as
    GAREM; Gm944; FAM59A; C18orf11
    Summary
    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]
    Expression
    Ubiquitous expression in kidney (RPKM 5.8), brain (RPKM 4.3) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GAREM1 in Genome Data Viewer
    Location:
    18q12.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (32263522..32470882, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (32453815..32661186, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (29843485..30050845, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 453 Neighboring gene clustered mitochondria homolog pseudogene 6 Neighboring gene meprin A subunit beta Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:29861628-29862220 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:29911856-29912356 Neighboring gene Sharpr-MPRA regulatory region 10466 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9390 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:30128498-30129051 Neighboring gene WBP11 pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:30159089-30159609 Neighboring gene uncharacterized LOC112268208 Neighboring gene kelch like family member 14

    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. GAREM1 regulates the PR interval on electrocardiograms. Kim HO, et al. J Hum Genet, 2018 Mar. PMID 29273731
    2. Functional relationship between CABIT, SAM and 14-3-3 binding domains of GAREM1 that play a role in its subcellular localization. Nishino T, et al. Biochem Biophys Res Commun, 2015 Aug 21. PMID 26164232
    3. GAREM1 is involved in controlling body mass in mice and humans. Nishino T, et al. Biochem Biophys Res Commun, 2022 Nov 5. PMID 36084556
    4. MicroRNA-128 contributes to the progression of gastric carcinoma through GAREM-mediated MAPK signaling activation. Han L, et al. Biochem Biophys Res Commun, 2018 Sep 26. PMID 30177387
    5. 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. Tashiro K, et al. J Biol Chem, 2009 Jul 24. PMID 19509291, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GAREM1 is involved in controlling body mass in mice and humans.
      Title: GAREM1 is involved in controlling body mass in mice and humans.
    2. the miR-128-GAREM-MAPK signaling pathway forms a critical feedback loop and mediates gastric carcinoma development
      Title: MicroRNA-128 contributes to the progression of gastric carcinoma through GAREM-mediated MAPK signaling activation.
    3. We have provided evidence that GAREM1 is involved in the PR interval of ECGs. These findings increase our understanding of the regulatory signals of heart rhythm through intracardiac ganglia of the autonomic nervous system and can be used to guide the development of a therapeutic target for heart conditions, such as atrial fibrillation.
      Title: GAREM1 regulates the PR interval on electrocardiograms.
    4. suggest that the interplay between 14-3-3, SAM domain and CABIT domain might be responsible for the distribution of GAREM1 in mammalian cells.
      Title: Functional relationship between CABIT, SAM and 14-3-3 binding domains of GAREM1 that play a role in its subcellular localization.
    5. Data indicate that a subtype of GAREM, GAREM2, is specifically expressed in the mouse, rat, and human brain.
      Title: A brain-specific Grb2-associated regulator of extracellular signal-regulated kinase (Erk)/mitogen-activated protein kinase (MAPK) (GAREM) subtype, GAREM2, contributes to neurite outgrowth of neuroblastoma cells by regulating Erk signaling.
    6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    7. Extracellular signal-regulated kinase activation in response to epidermal growth factor stimulation is regulated by the expression of GAREM in COS-7 and HeLa cells.
      Title: 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.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    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

    EBI GWAS Catalog

    Description
    Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of family with sequence similarity 59, member A (FAM59A; C18orf11) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables proline-rich region binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables proline-rich region binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to epidermal growth factor stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cellular response to epidermal growth factor stimulus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in epidermal growth factor receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in epidermal growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of ERK1 and ERK2 cascade IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    GRB2-associated and regulator of MAPK protein 1
    Names
    GRB2 associated regulator of MAPK1 1
    GRB2 associated, regulator of MAPK1
    GRB2-associated and regulator of MAPK1
    Grb2-associated and regulator of Erk/MAPK
    family with sequence similarity 59, member A
    protein FAM59A

    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.

    Genomic

    1. NG_030329.1 RefSeqGene

      Range
      4603..211963
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001242409.2 → NP_001229338.1  GRB2-associated and regulator of MAPK protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001229338.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC009835, AC015563, AI479499, AK025263, AK025660, BC121068
      Consensus CDS
      CCDS56057.1
      UniProtKB/Swiss-Prot
      Q0VAG3, Q0VAG4, Q8ND03, Q9BSF5, Q9H706
      UniProtKB/TrEMBL
      B4DME6
      Related
      ENSP00000269209.6, ENST00000269209.7
      Conserved Domains (3) summary
      cd09525
      Location:808 → 874
      SAM_GAREM; SAM domain of GAREM subfamily
      pfam12736
      Location:32 → 323
      CABIT; Cell-cycle sustaining, positive selection,
      cl26464
      Location:436 → 760
      Atrophin-1; Atrophin-1 family

    2. NM_022751.3 → NP_073588.1  GRB2-associated and regulator of MAPK protein 1 isoform 2

      See identical proteins and their annotated locations for NP_073588.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame acceptor splice site at the 3' terminal exon compared to variant 1. This results in an isoform (2) that is 1 aa shorter than isoform 1.
      Source sequence(s)
      AC009835, AC015563, AI479499, AK025263, AK025660
      Consensus CDS
      CCDS11905.1
      UniProtKB/TrEMBL
      B4DME6
      Related
      ENSP00000382165.3, ENST00000399218.8
      Conserved Domains (2) summary
      cd09525
      Location:807 → 873
      SAM_GAREM; SAM domain of GAREM subfamily
      pfam12736
      Location:32 → 323
      CABIT; Cell-cycle sustaining, positive selection,

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      32263522..32470882 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024451234.2 → XP_024307002.1  GRB2-associated and regulator of MAPK protein 1 isoform X1

      UniProtKB/TrEMBL
      B4DME6
      Conserved Domains (3) summary
      cd09525
      Location:686 → 752
      SAM_GAREM; SAM domain of GAREM subfamily
      pfam12736
      Location:29 → 201
      CABIT; Cell-cycle sustaining, positive selection,
      cl28033
      Location:292 → 644
      Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region

    2. XM_047437739.1 → XP_047293695.1  GRB2-associated and regulator of MAPK protein 1 isoform X1

    3. XM_047437740.1 → XP_047293696.1  GRB2-associated and regulator of MAPK protein 1 isoform X1

    4. XM_017025919.2 → XP_016881408.1  GRB2-associated and regulator of MAPK protein 1 isoform X2

      Conserved Domains (1) summary
      pfam12736
      Location:32 → 323
      CABIT; Cell-cycle sustaining, positive selection,

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      32453815..32661186 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318978.1 → XP_054174953.1  GRB2-associated and regulator of MAPK protein 1 isoform X1

    2. XM_054318979.1 → XP_054174954.1  GRB2-associated and regulator of MAPK protein 1 isoform X1

    3. XM_054318980.1 → XP_054174955.1  GRB2-associated and regulator of MAPK protein 1 isoform X1

    4. XM_054318981.1 → XP_054174956.1  GRB2-associated and regulator of MAPK protein 1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H706.2 GenPept UniProtKB/Swiss-Prot:Q9H706

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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