Human Gene ERRFI1 (ENST00000377482.10_7) from GENCODE V47lift37
  Description: ERBB receptor feedback inhibitor 1 (from RefSeq NM_018948.4)
Gencode Transcript: ENST00000377482.10_7
Gencode Gene: ENSG00000116285.13_9
Transcript (Including UTRs)
   Position: hg19 chr1:8,071,787-8,086,369 Size: 14,583 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr1:8,073,270-8,075,679 Size: 2,410 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:8,071,787-8,086,369)mRNA (may differ from genome)Protein (462 aa)
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-  Comments and Description Text from UniProtKB
  ID: ERRFI_HUMAN
DESCRIPTION: RecName: Full=ERBB receptor feedback inhibitor 1; AltName: Full=Mitogen-inducible gene 6 protein; Short=MIG-6;
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).
SUBUNIT: Interacts with ERBB2 (By similarity). Interacts with EGFR.
INTERACTION: P00533:EGFR; NbExp=2; IntAct=EBI-2941912, EBI-297353; P62993:GRB2; NbExp=4; IntAct=EBI-2941912, EBI-401755;
SUBCELLULAR LOCATION: Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Nucleus (By similarity). Note=Associated with the plasma membrane of basal skin keratinocytes. Translocates into the nucleus of differentiating suprabasal keratinocytes (By similarity).
INDUCTION: Levels are very low in quiescent cells. Up-regulated by mitogens.
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.
SIMILARITY: Belongs to the MIG6 family.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ERRFI1ID44147ch1p36.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ERRFI1
Diseases sorted by gene-association score: progesterone resistance (3), endometrial disease (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 133.22 RPKM in Esophagus - Muscularis
Total median expression: 1916.58 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -95.30225-0.424 Picture PostScript Text
3' UTR -371.601483-0.251 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR015116 - GTPase_binding
IPR021619 - Inhibitor_Mig-6

Pfam Domains:
PF09027 - GTPase binding
PF11555 - EGFR receptor inhibitor Mig-6

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2RF9 - X-ray 2RFD - X-ray MuPIT 2RFE - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9UJM3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005096 GTPase activator activity
GO:0005515 protein binding
GO:0017124 SH3 domain binding
GO:0019900 kinase binding
GO:0019901 protein kinase binding
GO:0031267 small GTPase binding

Biological Process:
GO:0007175 negative regulation of epidermal growth factor-activated receptor activity
GO:0031953 negative regulation of protein autophosphorylation
GO:0032691 negative regulation of interleukin-1 beta production
GO:0032869 cellular response to insulin stimulus
GO:0032966 negative regulation of collagen biosynthetic process
GO:0036120 cellular response to platelet-derived growth factor stimulus
GO:0042059 negative regulation of epidermal growth factor receptor signaling pathway
GO:0042536 negative regulation of tumor necrosis factor biosynthetic process
GO:0043547 positive regulation of GTPase activity
GO:0043589 skin morphogenesis
GO:0045616 regulation of keratinocyte differentiation
GO:0048286 lung alveolus development
GO:0050732 negative regulation of peptidyl-tyrosine phosphorylation
GO:0060426 lung vasculature development
GO:0060428 lung epithelium development
GO:0061469 regulation of type B pancreatic cell proliferation
GO:0070373 negative regulation of ERK1 and ERK2 cascade
GO:0071364 cellular response to epidermal growth factor stimulus
GO:0071474 cellular hyperosmotic response
GO:0071549 cellular response to dexamethasone stimulus
GO:1903243 negative regulation of cardiac muscle hypertrophy in response to stress

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0031234 extrinsic component of cytoplasmic side of plasma membrane


-  Descriptions from all associated GenBank mRNAs
  AL137274 - Homo sapiens mRNA; cDNA DKFZp434J1114 (from clone DKFZp434J1114); partial cds.
AK096149 - Homo sapiens cDNA FLJ38830 fis, clone MESAN1000080, highly similar to ERBB receptor feedback inhibitor 1.
AK027830 - Homo sapiens cDNA FLJ14924 fis, clone PLACE1008398, highly similar to GENE 33 POLYPEPTIDE.
BC025337 - Homo sapiens ERBB receptor feedback inhibitor 1, mRNA (cDNA clone MGC:39368 IMAGE:4810371), complete cds.
JD412960 - Sequence 393984 from Patent EP1572962.
JD295754 - Sequence 276778 from Patent EP1572962.
JD327127 - Sequence 308151 from Patent EP1572962.
JD343270 - Sequence 324294 from Patent EP1572962.
JD550153 - Sequence 531177 from Patent EP1572962.
JD112953 - Sequence 93977 from Patent EP1572962.
JD378587 - Sequence 359611 from Patent EP1572962.
JD155082 - Sequence 136106 from Patent EP1572962.
JD182879 - Sequence 163903 from Patent EP1572962.
JD268110 - Sequence 249134 from Patent EP1572962.
JD153422 - Sequence 134446 from Patent EP1572962.
JD418939 - Sequence 399963 from Patent EP1572962.
JD298387 - Sequence 279411 from Patent EP1572962.
AJ276373 - Homo sapiens mRNA for mitogen inducible gene mig-6 product (Mig-6 gene).
DQ892137 - Synthetic construct clone IMAGE:100004767; FLH183343.01X; RZPDo839B03142D ERBB receptor feedback inhibitor 1 (ERRFI1) gene, encodes complete protein.
AK315718 - Homo sapiens cDNA, FLJ96820, Homo sapiens mitogen-inducible gene 6 (MIG-6), mRNA.
DQ895331 - Synthetic construct Homo sapiens clone IMAGE:100009791; FLH183340.01L; RZPDo839B03141D ERBB receptor feedback inhibitor 1 (ERRFI1) gene, encodes complete protein.
AB528431 - Synthetic construct DNA, clone: pF1KB5867, Homo sapiens ERRFI1 gene for ERBB receptor feedback inhibitor 1, without stop codon, in Flexi system.
BC012839 - Homo sapiens ERBB receptor feedback inhibitor 1, mRNA (cDNA clone IMAGE:4178738), with apparent retained intron.
JD210487 - Sequence 191511 from Patent EP1572962.
JD390813 - Sequence 371837 from Patent EP1572962.
JD334661 - Sequence 315685 from Patent EP1572962.
JD230992 - Sequence 212016 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B2RDX9, ENST00000377482.1, ENST00000377482.2, ENST00000377482.3, ENST00000377482.4, ENST00000377482.5, ENST00000377482.6, ENST00000377482.7, ENST00000377482.8, ENST00000377482.9, ERRFI_HUMAN, MIG6, NM_018948, Q9NTG9, Q9UD05, Q9UJM3, uc318nql.1, uc318nql.2
UCSC ID: ENST00000377482.10_7
RefSeq Accession: NM_018948.4
Protein: Q9UJM3 (aka ERRFI_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.