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

Gene ID: 64762, updated on 12-Oct-2019

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
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

Genomic context

See GAREM1 in Genome Data Viewer
Location:
18q12.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (32263521..32470882, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (29843484..30050447, 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 heterogeneous nuclear ribonucleoprotein A1 pseudogene 7 Neighboring gene WW domain binding protein 11 pseudogene 1 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

NHGRI GWAS Catalog

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
proline-rich region binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proline-rich region binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 

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)

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
    Q9H706
    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/Swiss-Prot
    Q9H706
    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: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    32263521..32470882 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451236.1XP_024307004.1  GRB2-associated and regulator of MAPK protein 1 isoform X2

    Conserved Domains (3) summary
    cd09525
    Location:685751
    SAM_GAREM; SAM domain of GAREM subfamily
    pfam12736
    Location:29201
    CABIT; Cell-cycle sustaining, positive selection,
    cl28033
    Location:292643
    Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
  2. XM_024451235.1XP_024307003.1  GRB2-associated and regulator of MAPK protein 1 isoform X1

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

    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
  4. XM_017025919.1XP_016881408.1  GRB2-associated and regulator of MAPK protein 1 isoform X3

    Conserved Domains (1) summary
    pfam12736
    Location:32323
    CABIT; Cell-cycle sustaining, positive selection,
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