AMFR autocrine motility factor receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: AMFRprovided by HGNC
Official Full Name: autocrine motility factor receptorprovided by HGNC
Primary source: HGNC:HGNC:463
See related: Ensembl:ENSG00000159461 MIM:603243; AllianceGenome:HGNC:463
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GP78; RNF45; SPG89
Summary: This locus encodes a glycosylated transmembrane receptor. Its ligand, autocrine motility factor, is a tumor motility-stimulating protein secreted by tumor cells. The encoded receptor is also a member of the E3 ubiquitin ligase family of proteins. It catalyzes ubiquitination and endoplasmic reticulum-associated degradation of specific proteins. [provided by RefSeq, Feb 2012]
Expression: Ubiquitous expression in testis (RPKM 45.4), kidney (RPKM 36.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q13

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (56361452..56425545, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (62156498..62220616, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (56395364..56459457, complement)

Chromosome 16 - NC_000016.10 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
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?

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Title: AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Expression of autocrine motility factor receptor (AMFR) in human breast and lung invasive micropapillary carcinomas.
Title: Expression of autocrine motility factor receptor (AMFR) in human breast and lung invasive micropapillary carcinomas.
AMFR drives allergic asthma development by promoting alveolar macrophage-derived GM-CSF production.
Title: AMFR drives allergic asthma development by promoting alveolar macrophage-derived GM-CSF production.
iASPP suppresses Gp78-mediated TMCO1 degradation to maintain Ca(2+) homeostasis and control tumor growth and drug resistance.
Title: iASPP suppresses Gp78-mediated TMCO1 degradation to maintain Ca(2+) homeostasis and control tumor growth and drug resistance.
RETREG1/FAM134B mediated autophagosomal degradation of AMFR/GP78 and OPA1 -a dual organellar turnover mechanism.
Title: RETREG1/FAM134B mediated autophagosomal degradation of AMFR/GP78 and OPA1 -a dual organellar turnover mechanism.
Results report that GP78 physically interacts with and promotes DUSP1 ubiquitination and its subsequent degradation. Notably, GP78 mediates downregulation of DUSP1 expression while EGF-mediated ERK signaling.
Title: GP78 Cooperates with Dual-Specificity Phosphatase 1 To Stimulate Epidermal Growth Factor Receptor-Mediated Extracellular Signal-Regulated Kinase Signaling.
The study unveils a previously unknown function of USP34 in regulating the metabolic stability of gp78.
Title: The ubiquitin specific protease USP34 protects the ubiquitin ligase gp78 from proteasomal degradation.
ER stress treatment generates a marginal increase in Gp78 endogenous levels, and this elevation effect was prominent for intracellular accumulation of p27 in cells. Taken together, our current findings suggest a valuable multifactorial regulatory mechanism and linkage of p27 with UPS pathway
Title: Gp78 involvement in cellular proliferation: Can act as a promising modulator for cell cycle regulatory proteins?
There was a significant correlation between the 145 locus of the gp89 gene and coronary atherosclerotic heart disease, indexes of blood fat, blood glucose and blood pressure.
Title: Correlation between the GP78 Gene Polymorphism and Coronary Atherosclerotic Heart Disease.
This is the first study to show that HSPA1L mediated HIF-1alpha stabilization. In addition, this is the first study to show that GP78 inactivation promotes cancer cell proliferation, migration and eventual tumor growth both in vivo and in vitro by increasing cellular prion protein.
Title: Role of HSPA1L as a cellular prion protein stabilizer in tumor progression via HIF-1α/GP78 axis.

Submit: New GeneRIF Correction See all GeneRIFs (58)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Spastic paraplegia 89, autosomal recessive MedGen: C5830531 OMIM: 620379 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-61049 (e-PCR)
- UniSTS:77394

SHGC-60751 (e-PCR)
- UniSTS:21603

RH121398 (e-PCR)
- UniSTS:134244

D7S2301E (e-PCR)
- UniSTS:147336

RH70754 (e-PCR)
- UniSTS:64201

SHGC-60972 (e-PCR)
- UniSTS:51932

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables BAT3 complex binding	IDA Inferred from Direct Assay more info	PubMed
enables BAT3 complex binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-folding chaperone binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables signaling receptor activity	IPI Inferred from Physical Interaction more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin protein ligase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ubiquitin protein ligase activity	TAS Traceable Author Statement more info	PubMed
enables ubiquitin-protein transferase activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin-protein transferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ubiquitin-specific protease binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-ubiquitin ligase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in ERAD pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in ERAD pathway	IMP Inferred from Mutant Phenotype more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
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 non-canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in protein K27-linked ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein K48-linked ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein K48-linked ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein autoubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein polyubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein polyubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of SREBP signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in signal transduction	TAS Traceable Author Statement 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	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of Derlin-1 retrotranslocation complex	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi apparatus	IDA Inferred from Direct Assay 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
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in growth cone	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay 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: RING finger protein 45; RING-type E3 ubiquitin transferase AMFR

NP_001135.3

EC 2.3.2.36

NP_001310440.1

EC 2.3.2.36

NP_001310441.1

EC 2.3.2.36

XP_005255947.1

EC 2.3.2.36

XP_054236000.1

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.

Genomic

NG_047034.1 RefSeqGene

Range

4994..69087

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001144.6 → NP_001135.3 E3 ubiquitin-protein ligase AMFR isoform c

See identical proteins and their annotated locations for NP_001135.3

Status: REVIEWED

Source sequence(s)

AA767223, AC009102, AC092140, BC069197, BX345849, BX409690, CA748782

Consensus CDS

CCDS10758.1

UniProtKB/Swiss-Prot

P26442, Q8IZ70, Q9UKV5

Related

ENSP00000290649.5, ENST00000290649.10

Conserved Domains (4) summary

COG5243
Location:86 → 382

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

cd14421
Location:458 → 498

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

cd16455
Location:339 → 382

RING-H2_AMFR; RING finger, H2 subclass, found in autocrine motility factor receptor (AMFR) and similar proteins

pfam18442
Location:575 → 600

G2BR; E3 gp78 Ube2g2-binding region (G2BR)
NM_001323511.2 → NP_001310440.1 E3 ubiquitin-protein ligase AMFR isoform e

Status: REVIEWED

Source sequence(s)

AA280077, AC009102, AC092140, BC051032, BQ889409, CD642692

Conserved Domains (3) summary

COG5243
Location:2 → 287

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

cd14421
Location:363 → 403

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

pfam13639
Location:244 → 284

zf-RING_2; Ring finger domain
NM_001323512.2 → NP_001310441.1 E3 ubiquitin-protein ligase AMFR isoform d

Status: REVIEWED

Source sequence(s)

AC009102, AC092140, BC051032, BC069197, BI766313, CA425340, DB172402, DR005354

UniProtKB/Swiss-Prot

Q9UKV5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

56361452..56425545 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005255890.5 → XP_005255947.1 E3 ubiquitin-protein ligase AMFR isoform X1

See identical proteins and their annotated locations for XP_005255947.1

Conserved Domains (3) summary

COG5243
Location:2 → 287

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

cd14421
Location:363 → 403

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

pfam13639
Location:244 → 284

zf-RING_2; Ring finger domain

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

62156498..62220616 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054380025.1 → XP_054236000.1 E3 ubiquitin-protein ligase AMFR isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_138958.1: Suppressed sequence

Description

NM_138958.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.