Amfr autocrine motility factor receptor [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Amfrprovided by MGI
Official Full Name: autocrine motility factor receptorprovided by MGI
Primary source: MGI:MGI:1345634
See related: Ensembl:ENSMUSG00000031751 AllianceGenome:MGI:1345634
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: gp78
Summary: Predicted to enable several functions, including BAT3 complex binding activity; ubiquitin-specific protease binding activity; and ubiquitin-ubiquitin ligase activity. Involved in negative regulation of canonical Wnt signaling pathway and regulation of SREBP signaling pathway. Predicted to be located in several cellular components, including growth cone; neuronal cell body; and perinuclear region of cytoplasm. Predicted to be part of Derlin-1 retrotranslocation complex and ubiquitin ligase complex. Predicted to be active in cytosol and endoplasmic reticulum. Is expressed in several structures, including central nervous system; genitourinary system; integumental system; liver; and retina nuclear layer. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 89. Orthologous to human AMFR (autocrine motility factor receptor). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in adrenal adult (RPKM 95.7), liver adult (RPKM 63.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 C5; 8 45.96 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (94698216..94739301, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (93971588..94012640, complement)

Chromosome 8 - NC_000074.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Calmodulin regulates MGRN1-GP78 interaction mediated ubiquitin proteasomal degradation system.
Title: Calmodulin regulates MGRN1-GP78 interaction mediated ubiquitin proteasomal degradation system.
n the absence of both RNF145 and gp78, Hrd1, a third UBE2G2-dependent E3 ligase, partially regulates HMGCR activity. Our findings reveal a critical role for the sterol-responsive RNF145 in HMGCR regulation and elucidate the complexity of sterol-accelerated HMGCR degradation
Title: The sterol-responsive RNF145 E3 ubiquitin ligase mediates the degradation of HMG-CoA reductase together with gp78 and Hrd1.
the role of gp78 and cidec in hepatic steatosis, were investigated.
Title: Role of glycoprotein 78 and cidec in hepatic steatosis.
Gp78, an E3 ubiquitin ligase acts as a gatekeeper suppressing nonalcoholic steatohepatitis (NASH) and liver cancer.
Title: Gp78, an E3 ubiquitin ligase acts as a gatekeeper suppressing nonalcoholic steatohepatitis (NASH) and liver cancer.
role in innate immunity and STING signaling pathway
Title: The E3 ubiquitin ligase AMFR and INSIG1 bridge the activation of TBK1 kinase by modifying the adaptor STING.
The ubiquitin ligase gp78, known for its role in protein quality control, is critical for unglycosylated PrP ubiquitylation and degradation.
Title: Ubiquitin ligase gp78 targets unglycosylated prion protein PrP for ubiquitylation and degradation.
we consistently observe involvement of gp78 in Insig-1 degradation, we find no substantive evidence to support roles for either gp78 or TRC8 in the robust sterol-accelerated degradation of HMG-CoA reductase
Title: Differential regulation of HMG-CoA reductase and Insig-1 by enzymes of the ubiquitin-proteasome system.
Ablation of gp78 in liver improves hyperlipidemia and insulin resistance by inhibiting SREBP to decrease lipid biosynthesis.
Title: Ablation of gp78 in liver improves hyperlipidemia and insulin resistance by inhibiting SREBP to decrease lipid biosynthesis.
Palmitoylation of RING finger cysteines therefore regulates gp78 distribution to the peripheral ER
Title: RING finger palmitoylation of the endoplasmic reticulum Gp78 E3 ubiquitin ligase.
AMFR is involved in the process of learning and memory in the central nervous system.
Title: Autocrine motility factor receptor is involved in the process of learning and memory in the central nervous system.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5) 1 citation
Gene trapped (1)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Amfr (e-PCR), detects polymorphism
- UniSTS:141074

Amfr (e-PCR), detects polymorphism
- UniSTS:526917

RH70754 (e-PCR)
- UniSTS:64201

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables BAT3 complex binding	IEA Inferred from Electronic Annotation more info
enables BAT3 complex binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-folding chaperone binding	IEA Inferred from Electronic Annotation more info
enables protein-folding chaperone binding	ISO Inferred from Sequence Orthology more info
enables protein-macromolecule adaptor activity	IEA Inferred from Electronic Annotation more info
enables protein-macromolecule adaptor activity	ISO Inferred from Sequence Orthology more info
enables signaling receptor activity	IEA Inferred from Electronic Annotation more info
enables signaling receptor activity	ISO Inferred from Sequence Orthology more info
enables ubiquitin binding	IEA Inferred from Electronic Annotation more info
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase activity	ISO Inferred from Sequence Orthology more info
enables ubiquitin protein ligase activity	ISS Inferred from Sequence or Structural Similarity more info
enables ubiquitin-protein transferase activity	ISO Inferred from Sequence Orthology more info
enables ubiquitin-protein transferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables ubiquitin-specific protease binding	IEA Inferred from Electronic Annotation more info
enables ubiquitin-specific protease binding	ISO Inferred from Sequence Orthology more info
enables ubiquitin-ubiquitin ligase activity	IEA Inferred from Electronic Annotation more info
enables ubiquitin-ubiquitin ligase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in ERAD pathway	ISO Inferred from Sequence Orthology more info
involved_in ERAD pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in endoplasmic reticulum unfolded protein response	IBA Inferred from Biological aspect of Ancestor more info
involved_in endoplasmic reticulum unfolded protein response	IEA Inferred from Electronic Annotation more info
involved_in endoplasmic reticulum unfolded protein response	ISO Inferred from Sequence Orthology more info
involved_in learning or memory	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of canonical Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in non-canonical NF-kappaB signal transduction	IEA Inferred from Electronic Annotation more info
involved_in non-canonical NF-kappaB signal transduction	ISO Inferred from Sequence Orthology more info
involved_in protein K27-linked ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in protein K27-linked ubiquitination	ISO Inferred from Sequence Orthology more info
involved_in protein K48-linked ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein K48-linked ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in protein K48-linked ubiquitination	ISO Inferred from Sequence Orthology more info
involved_in protein autoubiquitination	IEA Inferred from Electronic Annotation more info
involved_in protein autoubiquitination	ISO Inferred from Sequence Orthology more info
involved_in protein polyubiquitination	ISO Inferred from Sequence Orthology more info
involved_in protein polyubiquitination	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of SREBP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ubiquitin-dependent protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of Derlin-1 retrotranslocation complex	IEA Inferred from Electronic Annotation more info
part_of Derlin-1 retrotranslocation complex	ISO Inferred from Sequence Orthology more info
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in dendrite	ISO Inferred from Sequence Orthology more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in growth cone	IEA Inferred from Electronic Annotation more info
located_in growth cone	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info	PubMed
part_of ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: E3 ubiquitin-protein ligase AMFR

Names: AMF receptor; RING-type E3 ubiquitin transferase AMFR

NP_001401199.1

EC 2.3.2.36

NP_001401200.1

EC 2.3.2.36

NP_001401201.1

EC 2.3.2.36

NP_001401202.1

EC 2.3.2.36

NP_001401203.1

EC 2.3.2.36

NP_001401204.1

EC 2.3.2.36

NP_001401205.1

EC 2.3.2.36

NP_035917.2

EC 2.3.2.36

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_001414270.1 → NP_001401199.1 E3 ubiquitin-protein ligase AMFR isoform 2

Status: VALIDATED

Source sequence(s)

AC138118
NM_001414271.1 → NP_001401200.1 E3 ubiquitin-protein ligase AMFR isoform 3

Status: VALIDATED

Source sequence(s)

AC138118
NM_001414272.1 → NP_001401201.1 E3 ubiquitin-protein ligase AMFR isoform 4

Status: VALIDATED

Source sequence(s)

AC138118
NM_001414273.1 → NP_001401202.1 E3 ubiquitin-protein ligase AMFR isoform 5

Status: VALIDATED

Source sequence(s)

AC138118
NM_001414274.1 → NP_001401203.1 E3 ubiquitin-protein ligase AMFR isoform 6

Status: VALIDATED

Source sequence(s)

AC138118
NM_001414275.1 → NP_001401204.1 E3 ubiquitin-protein ligase AMFR isoform 6

Status: VALIDATED

Source sequence(s)

AC138118
NM_001414276.1 → NP_001401205.1 E3 ubiquitin-protein ligase AMFR isoform 8

Status: VALIDATED

Source sequence(s)

AC138118
NM_011787.3 → NP_035917.2 E3 ubiquitin-protein ligase AMFR isoform 1

See identical proteins and their annotated locations for NP_035917.2

Status: VALIDATED

Source sequence(s)

AC138118

Consensus CDS

CCDS22533.1

UniProtKB/Swiss-Prot

Q8K008, Q99LH5, Q9R049

UniProtKB/TrEMBL

Q3TCI2, Q3U007

Related

ENSMUSP00000052258.7, ENSMUST00000053766.14

Conserved Domains (3) summary

COG5243
Location:82 → 378

HRD1; HRD ubiquitin ligase complex, ER membrane component [Posttranslational modification, protein turnover, chaperones]

cd14421
Location:454 → 494

CUE_AMFR; CUE domain found in autocrine motility factor receptor (AMFR) and similar proteins

pfam13639
Location:335 → 375

zf-RING_2; Ring finger domain