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Aliases for AMFR Gene

Aliases for AMFR Gene

  • Autocrine Motility Factor Receptor 2 3 4 5
  • RING-Type E3 Ubiquitin Transferase AMFR 3 4
  • RING Finger Protein 45 3 4
  • RNF45 3 4
  • GP78 3 4
  • E3 Ubiquitin-Protein Ligase AMFR 3
  • AMF Receptor 4
  • EC 2.3.2.27 4

External Ids for AMFR Gene

Previous GeneCards Identifiers for AMFR Gene

  • GC16M046778
  • GC16M056447
  • GC16M056130
  • GC16M056170
  • GC16M054952
  • GC16M042266
  • GC16M056395

Summaries for AMFR Gene

Entrez Gene Summary for AMFR Gene

  • 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]

GeneCards Summary for AMFR Gene

AMFR (Autocrine Motility Factor Receptor) is a Protein Coding gene. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include ligase activity and receptor activity. An important paralog of this gene is SYVN1.

UniProtKB/Swiss-Prot for AMFR Gene

  • E3 ubiquitin-protein ligase that mediates the polyubiquitination of a number of proteins such as CD3D, CYP3A4, CFTR and APOB for proteasomal degradation. Component of a VCP/p97-AMFR/gp78 complex that participates in the final step of endoplasmic reticulum-associated degradation (ERAD). The VCP/p97-AMFR/gp78 complex is involved in the sterol-accelerated ERAD degradation of HMGCR through binding to the HMGCR-INSIG complex at the ER membrane and initiating ubiquitination of HMGCR. The ubiquitinated HMGCR is then released from the ER by the complex into the cytosol for subsequent destruction. Also regulates ERAD through the ubiquitination of UBL4A a component of the BAG6/BAT3 complex. Also acts as a scaffold protein to assemble a complex that couples ubiquitination, retranslocation and deglycosylation. Mediates tumor invasion and metastasis as a receptor for the GPI/autocrine motility factor.

Gene Wiki entry for AMFR Gene

Additional gene information for AMFR Gene

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

Genomics for AMFR Gene

GeneHancer (GH) Regulatory Elements for AMFR Gene

Promoters and enhancers for AMFR 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
GH16I056420 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +1.9 1859 6.3 ATF1 FOXA2 ARNT ARID4B SIN3A ZNF48 YY1 GLIS2 GATA2 ZNF143 PIR43832 PIR36581 GC16M056424 AMFR BBS2 OGFOD1 LOC105371286 MT4 PIR52158
GH16I056353 Enhancer 0.7 ENCODE dbSUPER 6.2 +72.2 72174 0.2 SMARCE1 ZNF217 ZNF687 ZNF592 ENSG00000272372 NUDT21 OGFOD1 AMFR GC16M056301 GNAO1
GH16I056346 Enhancer 0.4 dbSUPER 7.5 +77.0 77011 4.2 RXRA HLF HNF4A OGFOD1 NUDT21 AMFR MT4 BBS2 ENSG00000272372 GC16M056301 GNAO1
GH16I056407 Enhancer 0.8 ENCODE 0.4 +16.9 16853 3 ELF3 FOXA2 THRB RAD21 RARA YY1 SMARCC2 FOS RXRA CEBPB ENSG00000260621 PIR52158 OGFOD1 NUDT21 PIR40925 AMFR
GH16I056383 Enhancer 0.8 ENCODE 0.3 +42.4 42356 0.8 PKNOX1 FOXA2 NFIB DMAP1 RAD21 YY1 SLC30A9 ATF7 EGR2 RXRA BBS2 OGFOD1 RSPRY1 NUP93 NUDT21 MT4 PIR40925 GC16M056362 AMFR
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AMFR on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AMFR gene promoter:

Genomic Locations for AMFR Gene

Genomic Locations for AMFR Gene
chr16:56,361,452-56,425,538
(GRCh38/hg38)
Size:
64,087 bases
Orientation:
Minus strand
chr16:56,395,364-56,459,450
(GRCh37/hg19)

Genomic View for AMFR Gene

Genes around AMFR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for AMFR Gene

Proteins for AMFR Gene

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

    Protein Symbol:
    Q9UKV5-AMFR_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase AMFR
    Protein Accession:
    Q9UKV5
    Secondary Accessions:
    • P26442
    • Q8IZ70

    Protein attributes for AMFR Gene

    Size:
    643 amino acids
    Molecular mass:
    72996 Da
    Quaternary structure:
    • Interacts with RNF5. Also forms an ERAD complex containing VCP/p97, NGLY1; PSMC1; SAKS1 AND RAD23B required for coupling retrotranslocation, ubiquitination and deglycosylation (By similarity). Interacts with DRL1. Interacts (through a region distinct from the RING finger) with UBE2G2/UBC7. Component of the VCP/p97-AMFR/gp78 complex that enhances VCP/p97 binding to polyubiquitinated proteins for their degradation by the endoplasmic reticulum-associated degradation (ERAD) pathway. Interacts (via the VIM) with VCP/p97. Interacts (via its membrane domain) with INSIG1; the interaction initiates the sterol-mediated ubiquitination and degradation of HMGCR by the ERAD pathway. Interacts with BAG6 (PubMed:21636303). Interacts with USP13 (via UBA 2 domain); the interaction is direct (PubMed:24424410).
    SequenceCaution:
    • Sequence=AAA36671.1; Type=Miscellaneous discrepancy; Note=Several sequencing errors.; Evidence={ECO:0000305}; Sequence=AAA79362.1; Type=Frameshift; Positions=355, 388, 411, 487, 537, 583, 632; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AMFR Gene

neXtProt entry for AMFR Gene

Post-translational modifications for AMFR Gene

  • Palmitoylation of the RING-type zing finger by ZDHHC6 promotes localization to the peripheral endoplasmic reticulum.
  • Ubiquitination at Lys600
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AMFR Gene

Domains & Families for AMFR Gene

Gene Families for AMFR Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for AMFR Gene

Suggested Antigen Peptide Sequences for AMFR Gene

Graphical View of Domain Structure for InterPro Entry

Q9UKV5

UniProtKB/Swiss-Prot:

AMFR_HUMAN :
  • The VCP/p97-interacting motif (VIM) is sufficient for binding VCP/p97 to form a complex capable of transferring VCP/p97 from the cytosol to microsomes.
Domain:
  • The VCP/p97-interacting motif (VIM) is sufficient for binding VCP/p97 to form a complex capable of transferring VCP/p97 from the cytosol to microsomes.
genes like me logo Genes that share domains with AMFR: view

Function for AMFR Gene

Molecular function for AMFR Gene

GENATLAS Biochemistry:
autocrine motility factor receptor
UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase that mediates the polyubiquitination of a number of proteins such as CD3D, CYP3A4, CFTR and APOB for proteasomal degradation. Component of a VCP/p97-AMFR/gp78 complex that participates in the final step of endoplasmic reticulum-associated degradation (ERAD). The VCP/p97-AMFR/gp78 complex is involved in the sterol-accelerated ERAD degradation of HMGCR through binding to the HMGCR-INSIG complex at the ER membrane and initiating ubiquitination of HMGCR. The ubiquitinated HMGCR is then released from the ER by the complex into the cytosol for subsequent destruction. Also regulates ERAD through the ubiquitination of UBL4A a component of the BAG6/BAT3 complex. Also acts as a scaffold protein to assemble a complex that couples ubiquitination, retranslocation and deglycosylation. Mediates tumor invasion and metastasis as a receptor for the GPI/autocrine motility factor.

Enzyme Numbers (IUBMB) for AMFR Gene

Phenotypes From GWAS Catalog for AMFR Gene

Gene Ontology (GO) - Molecular Function for AMFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IMP 16168377
GO:0004872 receptor activity IPI 1649192
GO:0005515 protein binding IPI 11724934
GO:0016740 transferase activity IEA --
GO:0030674 protein binding, bridging IMP 24424410
genes like me logo Genes that share ontologies with AMFR: view
genes like me logo Genes that share phenotypes with AMFR: view

Animal Models for AMFR Gene

MGI Knock Outs for AMFR:

Clone Products

  • Addgene plasmids for AMFR

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AMFR Gene

Localization for AMFR Gene

Subcellular locations from UniProtKB/Swiss-Prot for AMFR Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=Palmitoylation promotes localization to the peripheral endoplasmic reticulum. {ECO:0000269 PubMed:22728137}.

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 AMFR gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 3
extracellular 2
nucleus 2
cytosol 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AMFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IDA 22728137
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005794 Golgi apparatus IDA --
genes like me logo Genes that share ontologies with AMFR: view

Pathways & Interactions for AMFR Gene

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

UniProtKB/Swiss-Prot Q9UKV5-AMFR_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for AMFR Gene

Is activated by:

Gene Ontology (GO) - Biological Process for AMFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IMP 24810856
GO:0006457 protein folding TAS --
GO:0006511 ubiquitin-dependent protein catabolic process IMP 16168377
GO:0006928 movement of cell or subcellular component TAS 1649192
GO:0007165 signal transduction TAS 1649192
genes like me logo Genes that share ontologies with AMFR: view

Drugs & Compounds for AMFR Gene

(6) Drugs for AMFR Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist 0

(4) Additional Compounds for AMFR Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with AMFR: view

Transcripts for AMFR Gene

Unigene Clusters for AMFR Gene

Autocrine motility factor receptor, E3 ubiquitin protein ligase:
Representative Sequences:

Clone Products

  • Addgene plasmids for AMFR

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1: -
SP2: - -
SP3: -

Relevant External Links for AMFR Gene

GeneLoc Exon Structure for
AMFR
ECgene alternative splicing isoforms for
AMFR

Expression for AMFR Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Muscle - Skeletal (x4.8).

Protein differential expression in normal tissues from HIPED for AMFR Gene

This gene is overexpressed in Placenta (12.7), Liver (12.5), Adrenal (11.1), Peripheral blood mononuclear cells (10.6), and Testis (6.9).

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



Protein tissue co-expression partners for AMFR Gene

NURSA nuclear receptor signaling pathways regulating expression of AMFR Gene:

AMFR

SOURCE GeneReport for Unigene cluster for AMFR Gene:

Hs.295137

Evidence on tissue expression from TISSUES for AMFR Gene

  • Liver(4.5)
  • Blood(4)
  • Nervous system(3.1)
  • Lymph node(2.2)
  • Kidney(2.1)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with AMFR: view

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

Orthologs for AMFR Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for AMFR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AMFR 33 34
  • 99.82 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 90 (a)
OneToMany
-- 34
  • 72 (a)
OneToMany
cow
(Bos Taurus)
Mammalia AMFR 33 34
  • 89.99 (n)
dog
(Canis familiaris)
Mammalia AMFR 33 34
  • 89.49 (n)
mouse
(Mus musculus)
Mammalia Amfr 33 16 34
  • 88.78 (n)
rat
(Rattus norvegicus)
Mammalia Amfr 33
  • 86 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AMFR 34
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves AMFR 33 34
  • 79.53 (n)
lizard
(Anolis carolinensis)
Reptilia AMFR 34
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia amfr 33
  • 70.22 (n)
Str.7084 33
African clawed frog
(Xenopus laevis)
Amphibia MGC68459 33
zebrafish
(Danio rerio)
Actinopterygii amfr 33
  • 69.46 (n)
AMFR 34
  • 48 (a)
OneToOne
Dr.19542 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5600 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007538 33
  • 55.24 (n)
worm
(Caenorhabditis elegans)
Secernentea hrdl-1 33 34
  • 40.92 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HRD1 34
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 46 (a)
OneToOne
Species where no ortholog for AMFR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for AMFR Gene

ENSEMBL:
Gene Tree for AMFR (if available)
TreeFam:
Gene Tree for AMFR (if available)

Paralogs for AMFR Gene

Paralogs for AMFR Gene

(2) SIMAP similar genes for AMFR Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with AMFR: view

Variants for AMFR Gene

Sequence variations from dbSNP and Humsavar for AMFR Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs373191257 A breast cancer sample 56,363,027(-) T/A coding_sequence_variant, missense_variant
rs869025244 uncertain-significance, Ductal breast carcinoma 56,363,055(-) G/A coding_sequence_variant, missense_variant
rs1000179520 -- 56,368,948(-) T/A intron_variant
rs1000201500 -- 56,417,795(-) T/C intron_variant
rs1000274406 -- 56,384,411(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for AMFR Gene

Variant ID Type Subtype PubMed ID
esv2714510 CNV deletion 23290073
esv29720 CNV loss 19812545
esv3638695 CNV gain 21293372
nsv1069948 CNV deletion 25765185
nsv1121914 CNV deletion 24896259
nsv473728 CNV novel sequence insertion 20440878
nsv474912 CNV novel sequence insertion 20440878
nsv519979 CNV loss 19592680
nsv525929 CNV loss 19592680
nsv833242 CNV loss 17160897
nsv833243 CNV gain 17160897
nsv958049 CNV deletion 24416366

Variation tolerance for AMFR Gene

Residual Variation Intolerance Score: 12.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.82; 17.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AMFR Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AMFR Gene

Disorders for AMFR Gene

Additional Disease Information for AMFR

No disorders were found for AMFR Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AMFR Gene

Publications for AMFR Gene

  1. Purification of human tumor cell autocrine motility factor and molecular cloning of its receptor. (PMID: 1649192) Watanabe H … Raz A (The Journal of biological chemistry 1991) 2 3 4 22 58
  2. CYP3A4 ubiquitination by gp78 (the tumor autocrine motility factor receptor, AMFR) and CHIP E3 ligases. (PMID: 19103148) Pabarcus MK … Correia MA (Archives of biochemistry and biophysics 2009) 3 4 22 58
  3. Gp78, a membrane-anchored ubiquitin ligase, associates with Insig-1 and couples sterol-regulated ubiquitination to degradation of HMG CoA reductase. (PMID: 16168377) Song BL … DeBose-Boyd RA (Molecular cell 2005) 3 4 22 58
  4. Overexpression of the tumor autocrine motility factor receptor Gp78, a ubiquitin protein ligase, results in increased ubiquitinylation and decreased secretion of apolipoprotein B100 in HepG2 cells. (PMID: 12670940) Liang JS … Ginsberg HN (The Journal of biological chemistry 2003) 3 4 22 58
  5. The tumor autocrine motility factor receptor, gp78, is a ubiquitin protein ligase implicated in degradation from the endoplasmic reticulum. (PMID: 11724934) Fang S … Weissman AM (Proceedings of the National Academy of Sciences of the United States of America 2001) 3 4 22 58

Products for AMFR Gene

  • Addgene plasmids for AMFR

Sources for AMFR Gene

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