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

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: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Potentially functional variants of ERRFI1 in hypoxia-related genes predict survival of non-small cell lung cancer patients.
Title: Potentially functional variants of ERRFI1 in hypoxia-related genes predict survival of non-small cell lung cancer patients.
MIG6 loss confers resistance to ALK/ROS1 inhibitors in NSCLC through EGFR activation by low-dose EGF.
Title: MIG6 loss confers resistance to ALK/ROS1 inhibitors in NSCLC through EGFR activation by low-dose EGF.
Effect of Gene 33/Mig6/ERRFI1 on hexavalent chromium-induced transformation of human bronchial epithelial cells depends on the length of exposure.
Title: Effect of Gene 33/Mig6/ERRFI1 on hexavalent chromium-induced transformation of human bronchial epithelial cells depends on the length of exposure.
MIG-6 Is Critical for Progesterone Responsiveness in Human Complex Atypical Hyperplasia and Early-Stage Endometrial Cancer.
Title: MIG-6 Is Critical for Progesterone Responsiveness in Human Complex Atypical Hyperplasia and Early-Stage Endometrial Cancer.
Activity of the nonreceptor tyrosine kinase Ack1 is regulated by tyrosine phosphorylation of its Mig6 homology region.
Title: Activity of the nonreceptor tyrosine kinase Ack1 is regulated by tyrosine phosphorylation of its Mig6 homology region.
Molecular insight into the affinity, specificity and cross-reactivity of systematic hepatocellular carcinoma RALT interaction profile with human receptor tyrosine kinases.
Title: Molecular insight into the affinity, specificity and cross-reactivity of systematic hepatocellular carcinoma RALT interaction profile with human receptor tyrosine kinases.
Mig6 not only inhibits EGFR and HER2 but also targets HER3 and HER4 in a differential specificity: Implications for targeted esophageal cancer therapy.
Title: Mig6 not only inhibits EGFR and HER2 but also targets HER3 and HER4 in a differential specificity: Implications for targeted esophageal cancer therapy.
Mig-6 could inhibit cell proliferation and induce apoptosis in esophageal squamous cell carcinoma.
Title: Mig-6 could inhibit cell proliferation and induce apoptosis in esophageal squamous cell carcinoma.
Suppression of Mig-6 overcomes the acquired EGFR-TKI resistance of lung adenocarcinoma.
Title: Suppression of Mig-6 overcomes the acquired EGFR-TKI resistance of lung adenocarcinoma.
Altered Expression of Three EGFR Posttranslational Regulators MDGI, MIG6, and EIG121 in Invasive Breast Carcinomas.
Title: Altered Expression of Three EGFR Posttranslational Regulators MDGI, MIG6, and EIG121 in Invasive Breast Carcinomas.

Submit: New GeneRIF Correction See all GeneRIFs (75)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-17925 (e-PCR)
- UniSTS:68617

G32464 (e-PCR)
- UniSTS:117049

G32261 (e-PCR)
- UniSTS:116860

RH92580 (e-PCR)
- UniSTS:88971

A005P41 (e-PCR)
- UniSTS:17563

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

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Preferred Names: ERBB receptor feedback inhibitor 1

Names: mitogen-inducible gene 6 protein; receptor-associated late transducer

NCBI Reference Sequences (RefSeq)

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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)

NM_018948.4 → NP_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:4 → 68

GTPase_binding; GTPase binding

pfam11555
Location:315 → 367

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

8011727..8026309 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

B2RDX9, Q9NTG9, Q9UD05, Q9UJM3

UniProtKB/TrEMBL

A0A024R4I1, I6S2Y9
XM_005263477.4 → XP_005263534.1 ERBB receptor feedback inhibitor 1 isoform X2

UniProtKB/TrEMBL

B3KTV8

Conserved Domains (1) summary

pfam11555
Location:264 → 316

Inhibitor_Mig-6; EGFR receptor inhibitor Mig-6
XM_047422701.1 → XP_047278657.1 ERBB receptor feedback inhibitor 1 isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

7542658..7557236 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

B2RDX9, Q9NTG9, Q9UD05, Q9UJM3

UniProtKB/TrEMBL

A0A024R4I1, I6S2Y9
XM_054337102.1 → XP_054193077.1 ERBB receptor feedback inhibitor 1 isoform X2
XM_054337103.1 → XP_054193078.1 ERBB receptor feedback inhibitor 1 isoform X3