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Aliases for ERRFI1 Gene

Aliases for ERRFI1 Gene

  • ERBB Receptor Feedback Inhibitor 1 2 3 3 5
  • Mitogen-Inducible Gene 6 Protein 3 4
  • MIG-6 3 4
  • MIG6 3 4
  • Receptor-Associated Late Transducer 3
  • GENE-33 3
  • RALT 3

External Ids for ERRFI1 Gene

Previous GeneCards Identifiers for ERRFI1 Gene

  • GC01M008007
  • GC01M007995
  • GC01M007219

Summaries for ERRFI1 Gene

Entrez Gene Summary for ERRFI1 Gene

  • 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]

CIViC summary for ERRFI1 Gene

GeneCards Summary for ERRFI1 Gene

ERRFI1 (ERBB Receptor Feedback Inhibitor 1) is a Protein Coding gene. Diseases associated with ERRFI1 include Progesterone Resistance and Atrial Heart Septal Defect. Among its related pathways are EGF/EGFR Signaling Pathway and Glioma. Gene Ontology (GO) annotations related to this gene include protein kinase binding and kinase binding.

UniProtKB/Swiss-Prot for ERRFI1 Gene

  • Negative regulator of EGFR signaling in skin morphogenesis. Acts as a negative regulator for several EGFR family members, including ERBB2, ERBB3 and ERBB4. Inhibits EGFR catalytic activity by interfering with its dimerization. Inhibits autophosphorylation of EGFR, ERBB2 and ERBB4. Important for normal keratinocyte proliferation and differentiation. Plays a role in modulating the response to steroid hormones in the uterus. Required for normal response to progesterone in the uterus and for fertility. Mediates epithelial estrogen responses in the uterus by regulating ESR1 levels and activation. Important for regulation of endometrium cell proliferation. Important for normal prenatal and perinatal lung development (By similarity).

Gene Wiki entry for ERRFI1 Gene

Additional gene information for ERRFI1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERRFI1 Gene

Genomics for ERRFI1 Gene

GeneHancer (GH) Regulatory Elements for ERRFI1 Gene

Promoters and enhancers for ERRFI1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J008013 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 650.7 +4.9 4904 15.9 HDGF PKNOX1 FOXA2 ARNT MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 ERRFI1 ENSG00000238290 PARK7 SLC45A1 LOC102724552 ENSG00000236266 UTS2 GC01P008012
GH01J008199 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 19.4 -177.1 -177103 8.2 ATF1 FOXA2 MLX ARID4B DMAP1 ZNF48 YY1 SLC30A9 FOS ATF7 LINC01714 ERRFI1 ENSG00000238290 SLC45A1 GC01M008206 RNU1-7P
GH01J008196 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 17.9 -171.2 -171246 2.9 MLX FEZF1 DMAP1 SLC30A9 E2F8 SP3 MEF2D GLIS1 RCOR2 NBN ERRFI1 ENSG00000238290 LOC102724552 RERE LINC01714 LOC100129776
GH01J008209 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 17.9 -185.6 -185601 4.1 PKNOX1 SMAD1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ERRFI1 ENSG00000238290 SLC45A1 RNU1-7P LINC01714 ENSG00000233645 GC01M008206
GH01J008180 Enhancer 1.4 Ensembl ENCODE dbSUPER 15.4 -156.9 -156897 5 PKNOX1 CLOCK FOXA2 MLX ARID4B SIN3A BRCA1 ETS1 FOS RUNX3 ERRFI1 RNU1-7P ENSG00000238290 SLC45A1 LOC100129776 RPL7AP18
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ERRFI1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ERRFI1 gene promoter:
  • E4BP4
  • PPAR-gamma2
  • PPAR-gamma1
  • AP-2gamma
  • POU6F1 (c2)
  • GATA-2
  • POU2F1
  • aMEF-2
  • MEF-2
  • MEF-2A

Genomic Locations for ERRFI1 Gene

Genomic Locations for ERRFI1 Gene
chr1:8,004,404-8,026,333
(GRCh38/hg38)
Size:
21,930 bases
Orientation:
Minus strand
chr1:8,064,464-8,086,393
(GRCh37/hg19)
Size:
21,930 bases
Orientation:
Minus strand

Genomic View for ERRFI1 Gene

Genes around ERRFI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERRFI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERRFI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERRFI1 Gene

Proteins for ERRFI1 Gene

  • Protein details for ERRFI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UJM3-ERRFI_HUMAN
    Recommended name:
    ERBB receptor feedback inhibitor 1
    Protein Accession:
    Q9UJM3
    Secondary Accessions:
    • B2RDX9
    • Q9NTG9
    • Q9UD05

    Protein attributes for ERRFI1 Gene

    Size:
    462 amino acids
    Molecular mass:
    50560 Da
    Quaternary structure:
    • Interacts with ERBB2 (By similarity). Interacts with EGFR.

    Three dimensional structures from OCA and Proteopedia for ERRFI1 Gene

neXtProt entry for ERRFI1 Gene

Post-translational modifications for ERRFI1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ERRFI1 Gene

No data available for DME Specific Peptides for ERRFI1 Gene

Domains & Families for ERRFI1 Gene

Gene Families for ERRFI1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ERRFI1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ERRFI1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UJM3

UniProtKB/Swiss-Prot:

ERRFI_HUMAN :
  • The EGFR-binding region prevents binding of a cyclin-like activator to the EGFR kinase domain, and thereby keeps EGFR in an inactive conformation. Also maintains EGFR in an inactive conformation by preventing formation of an asymmetric homodimer.
  • Belongs to the MIG6 family.
Domain:
  • The EGFR-binding region prevents binding of a cyclin-like activator to the EGFR kinase domain, and thereby keeps EGFR in an inactive conformation. Also maintains EGFR in an inactive conformation by preventing formation of an asymmetric homodimer.
Family:
  • Belongs to the MIG6 family.
genes like me logo Genes that share domains with ERRFI1: view

Function for ERRFI1 Gene

Molecular function for ERRFI1 Gene

UniProtKB/Swiss-Prot Function:
Negative regulator of EGFR signaling in skin morphogenesis. Acts as a negative regulator for several EGFR family members, including ERBB2, ERBB3 and ERBB4. Inhibits EGFR catalytic activity by interfering with its dimerization. Inhibits autophosphorylation of EGFR, ERBB2 and ERBB4. Important for normal keratinocyte proliferation and differentiation. Plays a role in modulating the response to steroid hormones in the uterus. Required for normal response to progesterone in the uterus and for fertility. Mediates epithelial estrogen responses in the uterus by regulating ESR1 levels and activation. Important for regulation of endometrium cell proliferation. Important for normal prenatal and perinatal lung development (By similarity).
UniProtKB/Swiss-Prot Induction:
Levels are very low in quiescent cells. Up-regulated by mitogens.

Phenotypes From GWAS Catalog for ERRFI1 Gene

Gene Ontology (GO) - Molecular Function for ERRFI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity TAS 10749885
GO:0005515 protein binding IPI 15778465
GO:0017124 SH3 domain binding IEA --
GO:0019900 kinase binding IEA --
GO:0019901 protein kinase binding IPI 18046415
genes like me logo Genes that share ontologies with ERRFI1: view
genes like me logo Genes that share phenotypes with ERRFI1: view

Animal Models for ERRFI1 Gene

MGI Knock Outs for ERRFI1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERRFI1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ERRFI1 Gene

Localization for ERRFI1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERRFI1 Gene

Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Nucleus. Note=Associated with the plasma membrane of basal skin keratinocytes. Translocates into the nucleus of differentiating suprabasal keratinocytes (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ERRFI1 gene
Compartment Confidence
cytosol 5
plasma membrane 4
nucleus 4
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ERRFI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm ISS,TAS --
GO:0005829 cytosol IEA,IDA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ERRFI1: view

Pathways & Interactions for ERRFI1 Gene

genes like me logo Genes that share pathways with ERRFI1: view

Pathways by source for ERRFI1 Gene

2 BioSystems pathways for ERRFI1 Gene
1 Cell Signaling Technology pathway for ERRFI1 Gene

SIGNOR curated interactions for ERRFI1 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for ERRFI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007175 negative regulation of epidermal growth factor-activated receptor activity ISS --
GO:0031953 negative regulation of protein autophosphorylation IDA 18046415
GO:0032691 negative regulation of interleukin-1 beta production IEA --
GO:0032869 cellular response to insulin stimulus IEA --
GO:0032966 negative regulation of collagen biosynthetic process IEA --
genes like me logo Genes that share ontologies with ERRFI1: view

Drugs & Compounds for ERRFI1 Gene

(1) Drugs for ERRFI1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with ERRFI1: view

Transcripts for ERRFI1 Gene

Unigene Clusters for ERRFI1 Gene

ERBB receptor feedback inhibitor 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERRFI1

Alternative Splicing Database (ASD) splice patterns (SP) for ERRFI1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c · 5d
SP1: - - -
SP2: - - - -
SP3: - - -
SP4: - - - - -
SP5: - -
SP6: -

Relevant External Links for ERRFI1 Gene

GeneLoc Exon Structure for
ERRFI1
ECgene alternative splicing isoforms for
ERRFI1

Expression for ERRFI1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ERRFI1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ERRFI1 Gene

This gene is overexpressed in Liver (x4.5).

Protein differential expression in normal tissues from HIPED for ERRFI1 Gene

This gene is overexpressed in Breast (65.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ERRFI1 Gene



Protein tissue co-expression partners for ERRFI1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ERRFI1 Gene:

ERRFI1

SOURCE GeneReport for Unigene cluster for ERRFI1 Gene:

Hs.605445

Evidence on tissue expression from TISSUES for ERRFI1 Gene

  • Liver(4.8)
  • Kidney(2.9)
  • Nervous system(2.5)
  • Pancreas(2.4)
  • Lung(2.2)
  • Gall bladder(2)
  • Stomach(2)
genes like me logo Genes that share expression patterns with ERRFI1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ERRFI1 Gene

Orthologs for ERRFI1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ERRFI1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ERRFI1 34 33
  • 99.86 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ERRFI1 34 33
  • 84.92 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Errfi1 16 34 33
  • 84.86 (n)
rat
(Rattus norvegicus)
Mammalia Errfi1 33
  • 83.3 (n)
oppossum
(Monodelphis domestica)
Mammalia ERRFI1 34
  • 77 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ERRFI1 34 33
  • 75.29 (n)
OneToOne
chicken
(Gallus gallus)
Aves ERRFI1 34 33
  • 69.35 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ERRFI1 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia errfi1 33
  • 66.67 (n)
Str.6561 33
African clawed frog
(Xenopus laevis)
Amphibia MGC68521 33
zebrafish
(Danio rerio)
Actinopterygii errfi1 34 33
  • 55.2 (n)
OneToMany
ERRFI1 (2 of 2) 34
  • 42 (a)
OneToMany
wufi40f02 33
Species where no ortholog for ERRFI1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ERRFI1 Gene

ENSEMBL:
Gene Tree for ERRFI1 (if available)
TreeFam:
Gene Tree for ERRFI1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ERRFI1: view image

Paralogs for ERRFI1 Gene

No data available for Paralogs for ERRFI1 Gene

Variants for ERRFI1 Gene

Sequence variations from dbSNP and Humsavar for ERRFI1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000225129 -- 8,020,539(-) C/A intron_variant
rs1000961307 -- 8,018,412(-) C/T intron_variant
rs1000967600 -- 8,025,216(-) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1001113616 -- 8,020,184(-) G/C intron_variant
rs1001226749 -- 8,021,966(-) T/G intron_variant

Variation tolerance for ERRFI1 Gene

Residual Variation Intolerance Score: 17.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.97; 59.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ERRFI1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERRFI1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ERRFI1 Gene

Disorders for ERRFI1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ERRFI1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
progesterone resistance
  • pseudocorpus luteum insufficiency
atrial heart septal defect
  • atrial septal defect
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ERRFI1

genes like me logo Genes that share disorders with ERRFI1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ERRFI1 Gene

Publications for ERRFI1 Gene

  1. Expression of RALT, a feedback inhibitor of ErbB receptors, is subjected to an integrated transcriptional and post-translational control. (PMID: 12226756) Fiorini M … Segatto O (Oncogene 2002) 2 3 22 58
  2. Gene 33/Mig-6, a transcriptionally inducible adapter protein that binds GTP-Cdc42 and activates SAPK/JNK. A potential marker transcript for chronic pathologic conditions, such as diabetic nephropathy. Possible role in the response to persistent stress. (PMID: 10749885) Makkinje A … Kyriakis JM (The Journal of biological chemistry 2000) 2 3 22 58
  3. Identification of a novel mitogen-inducible gene (mig-6): regulation during G1 progression and differentiation. (PMID: 7641805) Wick M … Müller R (Experimental cell research 1995) 3 4 22 58
  4. Mitogen-inducible gene-6 is a negative regulator of epidermal growth factor receptor signaling in hepatocytes and human hepatocellular carcinoma. (PMID: 20044804) Reschke M … Ullrich A (Hepatology (Baltimore, Md.) 2010) 3 22 58
  5. Mig-6 modulates uterine steroid hormone responsiveness and exhibits altered expression in endometrial disease. (PMID: 19439667) Jeong JW … DeMayo FJ (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 22 58

Products for ERRFI1 Gene

Sources for ERRFI1 Gene

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