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

    Gene ID: 64762, updated on 3-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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

    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

    HIV-1 interactions

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    General protein information

    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)

    NEW Try the new Transcript table

    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_001242409.2NP_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:808874
      SAM_GAREM; SAM domain of GAREM subfamily
      pfam12736
      Location:32323
      CABIT; Cell-cycle sustaining, positive selection,
      cl26464
      Location:436760
      Atrophin-1; Atrophin-1 family
    2. NM_022751.3NP_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:807873
      SAM_GAREM; SAM domain of GAREM subfamily
      pfam12736
      Location:32323
      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_024451234.2XP_024307002.1  GRB2-associated and regulator of MAPK protein 1 isoform X1

      UniProtKB/TrEMBL
      B4DME6
      Conserved Domains (3) summary
      cd09525
      Location:686752
      SAM_GAREM; SAM domain of GAREM subfamily
      pfam12736
      Location:29201
      CABIT; Cell-cycle sustaining, positive selection,
      cl28033
      Location:292644
      Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
    2. XM_047437739.1XP_047293695.1  GRB2-associated and regulator of MAPK protein 1 isoform X1

      UniProtKB/TrEMBL
      B4DME6
    3. XM_047437740.1XP_047293696.1  GRB2-associated and regulator of MAPK protein 1 isoform X1

      UniProtKB/TrEMBL
      B4DME6
    4. XM_017025919.2XP_016881408.1  GRB2-associated and regulator of MAPK protein 1 isoform X2

      Conserved Domains (1) summary
      pfam12736
      Location:32323
      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_054318978.1XP_054174953.1  GRB2-associated and regulator of MAPK protein 1 isoform X1

      UniProtKB/TrEMBL
      B4DME6
    2. XM_054318979.1XP_054174954.1  GRB2-associated and regulator of MAPK protein 1 isoform X1

      UniProtKB/TrEMBL
      B4DME6
    3. XM_054318980.1XP_054174955.1  GRB2-associated and regulator of MAPK protein 1 isoform X1

      UniProtKB/TrEMBL
      B4DME6
    4. XM_054318981.1XP_054174956.1  GRB2-associated and regulator of MAPK protein 1 isoform X2