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    ERRFI1 ERBB receptor feedback inhibitor 1 [ Homo sapiens (human) ]

    Gene ID: 54206, updated on 3-Dec-2024

    Summary

    Official Symbol
    ERRFI1provided by HGNC
    Official Full Name
    ERBB receptor feedback inhibitor 1provided by HGNC
    Primary source
    HGNC:HGNC:18185
    See related
    Ensembl:ENSG00000116285 MIM:608069; AllianceGenome:HGNC:18185
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MIG6; RALT; MIG-6; GENE-33
    Summary
    ERRFI1 is a cytoplasmic protein whose expression is upregulated with cell growth (Wick et al., 1995 [PubMed 7641805]). It shares significant homology with the protein product of rat gene-33, which is induced during cell stress and mediates cell signaling (Makkinje et al., 2000 [PubMed 10749885]; Fiorentino et al., 2000 [PubMed 11003669]).[supplied by OMIM, Mar 2008]
    Expression
    Broad expression in liver (RPKM 123.7), gall bladder (RPKM 60.1) and 20 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ERRFI1 in Genome Data Viewer
    Location:
    1p36.23
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (8011727..8026309, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (7542658..7557236, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (8071787..8086369, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancers GRCh37_chr1:8020839-8021622 and GRCh37_chr1:8021623-8022406 Neighboring gene Parkinsonism associated deglycase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 98 Neighboring gene NANOG hESC enhancer GRCh37_chr1:8051898-8052428 Neighboring gene uncharacterized LOC124903834 Neighboring gene Sharpr-MPRA regulatory region 3725 Neighboring gene Sharpr-MPRA regulatory region 3772 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 190 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 191 Neighboring gene ERRFI1 divergent transcript Neighboring gene Sharpr-MPRA regulatory region 2737 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:8105847-8107046 Neighboring gene MPRA-validated peak44 silencer Neighboring gene ribosomal protein L7a pseudogene 18 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:8127937-8128436 Neighboring gene VISTA enhancer hs1833 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:8154529-8155728 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:8156741-8157940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:8175654-8176154 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 100 Neighboring gene uncharacterized LOC107984915

    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
    Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif downregulates the expression of ERBB receptor feedback inhibitor 1 (ERRFI1) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bile acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cholesterol homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chondrocyte proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryo implantation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epidermal growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in fat pad development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glucose metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in limb joint morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in liver development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lung alveolus development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in lung epithelium development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in lung vasculature development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of epidermal growth factor receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of epidermal growth factor-activated receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of epidermal growth factor-activated receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in progesterone receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein localization to plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of keratinocyte differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of keratinocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to 1-oleoyl-sn-glycerol 3-phosphate IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to estradiol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to insulin IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to progesterone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skin morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in tissue homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in uterine epithelium development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    ERBB receptor feedback inhibitor 1
    Names
    mitogen-inducible gene 6 protein
    receptor-associated late transducer

    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.

    mRNA and Protein(s)

    1. NM_018948.4NP_061821.1  ERBB receptor feedback inhibitor 1

      See identical proteins and their annotated locations for NP_061821.1

      Status: VALIDATED

      Source sequence(s)
      AK096149, AL137274, BC025337, DB033666
      Consensus CDS
      CCDS94.1
      UniProtKB/Swiss-Prot
      B2RDX9, Q9NTG9, Q9UD05, Q9UJM3
      UniProtKB/TrEMBL
      A0A024R4I1, B3KTV8, I6S2Y9
      Related
      ENSP00000366702.5, ENST00000377482.10
      Conserved Domains (2) summary
      pfam09027
      Location:468
      GTPase_binding; GTPase binding
      pfam11555
      Location:315367
      Inhibitor_Mig-6; EGFR receptor inhibitor Mig-6

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      8011727..8026309 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422698.1XP_047278654.1  ERBB receptor feedback inhibitor 1 isoform X1

      UniProtKB/Swiss-Prot
      B2RDX9, Q9NTG9, Q9UD05, Q9UJM3
      UniProtKB/TrEMBL
      A0A024R4I1, B3KTV8, I6S2Y9
    2. XM_005263477.4XP_005263534.1  ERBB receptor feedback inhibitor 1 isoform X2

      UniProtKB/TrEMBL
      B3KTV8
      Conserved Domains (1) summary
      pfam11555
      Location:264316
      Inhibitor_Mig-6; EGFR receptor inhibitor Mig-6
    3. XM_047422701.1XP_047278657.1  ERBB receptor feedback inhibitor 1 isoform X3

      UniProtKB/TrEMBL
      B3KTV8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      7542658..7557236 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337101.1XP_054193076.1  ERBB receptor feedback inhibitor 1 isoform X1

      UniProtKB/Swiss-Prot
      B2RDX9, Q9NTG9, Q9UD05, Q9UJM3
      UniProtKB/TrEMBL
      A0A024R4I1, B3KTV8, I6S2Y9
    2. XM_054337102.1XP_054193077.1  ERBB receptor feedback inhibitor 1 isoform X2

      UniProtKB/TrEMBL
      B3KTV8
    3. XM_054337103.1XP_054193078.1  ERBB receptor feedback inhibitor 1 isoform X3

      UniProtKB/TrEMBL
      B3KTV8