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

Gene ID: 64762, updated on 3-Apr-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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Location:
18q12.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (32263522..32470882, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (32453815..32661186, complement)
105.20220307 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. 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. Taniguchi T, et al. J Biol Chem, 2013 Oct 11. PMID 24003223, Free PMC Article

See all (30) 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)

Genotypes

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_2023_10

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

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