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] See more...

Aliases for AMFR Gene

Aliases for AMFR Gene

  • Autocrine Motility Factor Receptor 2 3 4 5
  • RNF45 2 3 4
  • E3 Ubiquitin-Protein Ligase AMFR 3 4
  • RING Finger Protein 45 3 4
  • Gp78 2 4
  • RING-Type E3 Ubiquitin Transferase AMFR 3
  • AMF Receptor 4
  • EC 2.3.2.27 4
  • GP78 3
  • AMFR 5

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. Diseases associated with AMFR include High-Grade Astrocytoma and Hepatocellular Clear Cell Carcinoma. Among its related pathways are Calnexin/calreticulin cycle and Chks in Checkpoint Regulation. Gene Ontology (GO) annotations related to this gene include ligase activity. An important paralog of this gene is SYVN1.

UniProtKB/Swiss-Prot Summary for AMFR Gene

  • E3 ubiquitin-protein ligase that mediates the polyubiquitination of lysine and cysteine residues on target proteins, such as CD3D, CYP3A4, CFTR, INSIG1, SOAT2/ACAT2 and APOB for proteasomal degradation (PubMed:10456327, PubMed:11724934, PubMed:12670940, PubMed:19103148, PubMed:24424410, PubMed:28604676). Component of a VCP/p97-AMFR/gp78 complex that participates in the final step of endoplasmic reticulum-associated degradation (ERAD) (PubMed:10456327, PubMed:11724934, PubMed:19103148, PubMed:24424410). The VCP/p97-AMFR/gp78 complex is involved in the sterol-accelerated ERAD degradation of HMGCR through binding to the HMGCR-INSIG1 complex at the ER membrane (PubMed:16168377, PubMed:22143767). In addition, interaction of AMFR with AUP1 facilitates interaction of AMFR with ubiquitin-conjugating enzyme UBE2G2 and ubiquitin ligase RNF139, leading to sterol-induced HMGCR ubiquitination (PubMed:23223569). The ubiquitinated HMGCR is then released from the ER into the cytosol for subsequent destruction (PubMed:16168377, PubMed:22143767, PubMed:23223569). In addition to ubiquitination on lysine residues, catalyzes ubiquitination on cysteine residues: together with INSIG1, mediates polyubiquitination of SOAT2/ACAT2 at 'Cys-277', leading to its degradation when the lipid levels are low (PubMed:28604676). Catalyzes ubiquitination and subsequent degradation of INSIG1 when cells are depleted of sterols (PubMed:17043353). Mediates polyubiquitination of INSIG2 at 'Cys-215' in some tissues, leading to its degradation (PubMed:31953408). Also regulates ERAD through the ubiquitination of UBL4A a component of the BAG6/BAT3 complex (PubMed:21636303). Also acts as a scaffold protein to assemble a complex that couples ubiquitination, retranslocation and deglycosylation (PubMed:21636303). Mediates tumor invasion and metastasis as a receptor for the GPI/autocrine motility factor (PubMed:10456327). In association with LMBR1L and UBAC2, negatively regulates the canonical Wnt signaling pathway in the lymphocytes by promoting the ubiquitin-mediated degradation of CTNNB1 and Wnt receptors FZD6 and LRP6 (PubMed:31073040).

Gene Wiki entry for AMFR Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AMFR Gene

Genomics for AMFR Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH16J056420 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +1.9 1866 6.3 SP1 NCOR1 MYC ZNF600 IKZF1 ZNF592 CEBPA ZNF10 YY1 CTCF AMFR lnc-NUDT21-1 piR-32833 piR-43582 BBS2 OGFOD1 NUP93-DT MT4 piR-47368 GNAO1
GH16J056539 Enhancer 1 Ensembl ENCODE 8.6 -115.6 -115627 3.3 CEBPA BRCA1 CEBPB MAX EP300 FOXA2 MAFF NBN RXRA SAP130 BBS2 MT3 MT1X MT1A MT1G MT1H MT1F OGFOD1 AMFR MT4
GH16J056353 Enhancer 0.6 ENCODE dbSUPER 6.2 +72.2 72181 0.2 ZNF217 SMARCE1 ZNF687 ZHX2 ZNF592 NUDT21 OGFOD1 AMFR ENSG00000272372 HSALNG0111679 piR-37612 GNAO1
GH16J056346 Enhancer 0.5 dbSUPER 7.5 +77.0 77018 4.2 RXRA HNF4A HLF YY1 SP1 OGFOD1 NUDT21 AMFR MT4 BBS2 piR-37612 HSALNG0111679 GNAO1
GH16J056450 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 0.3 -25.7 -25656 4.4 SP1 MYC IKZF1 ZNF580 ZMYM3 ATF2 POLR2A CEBPA ZNF223 ZNF10 NUDT21 OGFOD1 HSALNG0111685 BBS2 RSPRY1 NUP93 MT4 AMFR
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AMFR on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AMFR

Top Transcription factor binding sites by QIAGEN in the AMFR gene promoter:
  • AML1a
  • AP-4
  • COMP1
  • NF-AT
  • NF-AT1
  • Nkx6-1
  • Roaz
  • RORalpha1
  • STAT3
  • TBP

Genomic Locations for AMFR Gene

Latest Assembly
chr16:56,361,452-56,425,545
(GRCh38/hg38)
Size:
64,094 bases
Orientation:
Minus strand

Previous Assembly
chr16:56,395,364-56,459,457
(GRCh37/hg19 by Entrez Gene)
Size:
64,094 bases
Orientation:
Minus strand

chr16:56,395,364-56,459,450
(GRCh37/hg19 by Ensembl)
Size:
64,087 bases
Orientation:
Minus strand

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 (By similarity). Also forms an ERAD complex containing VCP/p97, NGLY1; PSMC1; SAKS1 AND RAD23B required for coupling retrotranslocation, ubiquitination and deglycosylation (By similarity). Interacts with DERL1 (PubMed:16186510). Interacts (through a region distinct from the RING finger) with UBE2G2/UBC7 (PubMed:11724934). 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 (By similarity). Interacts (via the VIM) with VCP/p97 (PubMed:16168377, PubMed:16186510). Interacts (via its membrane domain) with INSIG1; the interaction initiates the sterol-mediated ubiquitination and degradation of HMGCR by the ERAD pathway (PubMed:16168377, PubMed:22143767). Interacts with AUP1, UBE2G2 and RNF139/TRC8; interaction with AUP1 facilitates interaction of AMFR with ubiquitin-conjugating enzyme UBE2G2 and ubiquitin ligase RNF139, leading to sterol-induced ubiquitination of HMGCR and its subsequent proteasomal degradation (PubMed:23223569). Interacts with BAG6 (PubMed:21636303). Interacts with USP13 (via UBA 2 domain); the interaction is direct (PubMed:24424410). Interacts with LMBR1L (PubMed:31073040). Interacts with UBAC2 and CTNNB1 (By similarity). Interacts with C18orf32 (PubMed:29275994).
    SequenceCaution:
    • Sequence=AAA36671.1; Type=Miscellaneous discrepancy; Note=Several sequencing errors.; Evidence={ECO:0000305}; Sequence=AAA79362.1; Type=Frameshift; 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

InterPro:
Blocks:
  • Zn-finger, RING
  • Ubiquitin system component Cue

Suggested Antigen Peptide Sequences for AMFR Gene

GenScript: Design optimal peptide antigens:
  • Autocrine motility factor receptor, isoform 1 (AMFR1_HUMAN)
  • gp78 (AMFR2_HUMAN)
  • AMFR protein (Q1RN03_HUMAN)
  • AMFR protein (Q6PGR1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UKV5

UniProtKB/Swiss-Prot:

AMFR_HUMAN :
  • The CUE domain is required for recognition of misfolded proteins such as mutant CFTR.
Domain:
  • The CUE domain is required for recognition of misfolded proteins such as mutant CFTR.
  • 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

UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase that mediates the polyubiquitination of lysine and cysteine residues on target proteins, such as CD3D, CYP3A4, CFTR, INSIG1, SOAT2/ACAT2 and APOB for proteasomal degradation (PubMed:10456327, PubMed:11724934, PubMed:12670940, PubMed:19103148, PubMed:24424410, PubMed:28604676). Component of a VCP/p97-AMFR/gp78 complex that participates in the final step of endoplasmic reticulum-associated degradation (ERAD) (PubMed:10456327, PubMed:11724934, PubMed:19103148, PubMed:24424410). The VCP/p97-AMFR/gp78 complex is involved in the sterol-accelerated ERAD degradation of HMGCR through binding to the HMGCR-INSIG1 complex at the ER membrane (PubMed:16168377, PubMed:22143767). In addition, interaction of AMFR with AUP1 facilitates interaction of AMFR with ubiquitin-conjugating enzyme UBE2G2 and ubiquitin ligase RNF139, leading to sterol-induced HMGCR ubiquitination (PubMed:23223569). The ubiquitinated HMGCR is then released from the ER into the cytosol for subsequent destruction (PubMed:16168377, PubMed:22143767, PubMed:23223569). In addition to ubiquitination on lysine residues, catalyzes ubiquitination on cysteine residues: together with INSIG1, mediates polyubiquitination of SOAT2/ACAT2 at 'Cys-277', leading to its degradation when the lipid levels are low (PubMed:28604676). Catalyzes ubiquitination and subsequent degradation of INSIG1 when cells are depleted of sterols (PubMed:17043353). Mediates polyubiquitination of INSIG2 at 'Cys-215' in some tissues, leading to its degradation (PubMed:31953408). Also regulates ERAD through the ubiquitination of UBL4A a component of the BAG6/BAT3 complex (PubMed:21636303). Also acts as a scaffold protein to assemble a complex that couples ubiquitination, retranslocation and deglycosylation (PubMed:21636303). Mediates tumor invasion and metastasis as a receptor for the GPI/autocrine motility factor (PubMed:10456327). In association with LMBR1L and UBAC2, negatively regulates the canonical Wnt signaling pathway in the lymphocytes by promoting the ubiquitin-mediated degradation of CTNNB1 and Wnt receptors FZD6 and LRP6 (PubMed:31073040).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=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.; EC=2.3.2.27; Evidence={ECO:0000305};.
GENATLAS Biochemistry:
autocrine motility factor receptor

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:0005515 protein binding IEA,IPI 11724934
GO:0016740 transferase activity IEA --
GO:0030674 protein binding, bridging IMP 24424410
GO:0034450 ubiquitin-ubiquitin ligase activity IDA 24810856
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:
  • Amfr Amfr<tm1a(KOMP)Wtsi>
  • Amfr Amfr<tm1.1Amw>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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
cytosol 4
golgi apparatus 4
plasma membrane 3
nucleus 3
extracellular 2
cytoskeleton 2
mitochondrion 2
endosome 2
lysosome 2
peroxisome 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:0000151 ubiquitin ligase complex IBA 21873635
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IDA 22728137
GO:0005789 endoplasmic reticulum membrane TAS --
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

Pathways by source for AMFR Gene

1 GeneGo (Thomson Reuters) pathway for AMFR Gene
  • Regulation of degradation of deltaF508 CFTR in CF
1 Qiagen pathway for AMFR Gene
  • SREBP Proteolysis

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 IDA,IMP 24810856
GO:0006457 protein folding TAS --
GO:0006511 ubiquitin-dependent protein catabolic process IBA,IMP 16168377
GO:0007165 signal transduction TAS 1649192
GO:0007568 aging IEA --
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
Adenosine monophosphate Approved, Investigational Nutra 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8
genes like me logo Genes that share compounds with AMFR: view

Transcripts for AMFR Gene

mRNA/cDNA for AMFR Gene

4 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Expression for AMFR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for AMFR Gene



Protein tissue co-expression partners for AMFR Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AMFR

SOURCE GeneReport for Unigene cluster for AMFR Gene:

Hs.295137

Evidence on tissue expression from TISSUES for AMFR Gene

  • Liver(4.6)
  • Blood(4.2)
  • Nervous system(3.4)
  • Kidney(2.8)
  • Intestine(2.6)
  • Lymph node(2.5)
  • Skin(2.5)
  • Muscle(2.5)
  • Lung(2.3)
  • Heart(2.2)
  • Spleen(2.1)
  • Thyroid gland(2.1)
  • Pancreas(2)
  • Adrenal gland(2)
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 29 30
  • 99.82 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 90 (a)
OneToMany
-- 30
  • 72 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia AMFR 29 30
  • 89.99 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AMFR 29 30
  • 89.49 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Amfr 29 16 30
  • 88.78 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Amfr 29
  • 86 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia AMFR 30
  • 86 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AMFR 29 30
  • 79.53 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AMFR 30
  • 86 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia amfr 29
  • 70.22 (n)
Str.7084 29
African clawed frog
(Xenopus laevis)
Amphibia MGC68459 29
Zebrafish
(Danio rerio)
Actinopterygii amfr 29
  • 69.46 (n)
AMFR 30
  • 48 (a)
OneToOne
Dr.19542 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5600 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007538 29
  • 55.24 (n)
Worm
(Caenorhabditis elegans)
Secernentea hrdl-1 29 30
  • 40.92 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HRD1 30
  • 15 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 46 (a)
OneToOne
Species where no ortholog for AMFR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for AMFR: view image
Alliance of Genome Resources:
Additional Orthologs for AMFR

Paralogs for AMFR Gene

Paralogs for AMFR Gene

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

  • AMFR_HUMAN
  • H3BQM3_HUMAN
  • H3BRK9_HUMAN
  • H3BSK3_HUMAN
  • Q1RN03_HUMAN
  • Q6PGR1_HUMAN
  • R4GNG2_HUMAN
genes like me logo Genes that share paralogs with AMFR: view

Variants for AMFR Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AMFR Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs373191257 A breast cancer sample p.Asp605Val
rs758196891 Uncertain Significance: Marfanoid habitus and intellectual disability 56,389,295(-) C/T
NM_001144.6(AMFR):c.1166G>A (p.Arg389His)
MISSENSE
rs869025244 Uncertain Significance: Ductal breast carcinoma 56,363,055(-) G/A
NM_001144.6(AMFR):c.1786C>T (p.Arg596Cys)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for AMFR Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
AMFR

SNP Genotyping and Copy Number Assays for research

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

Disorders for AMFR Gene

MalaCards: The human disease database

(4) MalaCards diseases for AMFR Gene - From: COP and GCD

Disorder Aliases PubMed IDs
high-grade astrocytoma
hepatocellular clear cell carcinoma
  • clear cell carcinoma of the liver cells
prostate transitional cell carcinoma
  • transitional cell carcinoma of prostate
charcot-marie-tooth disease
  • cmt - charcot-marie-tooth disease
- elite association - COSMIC cancer census association via MalaCards
Search AMFR in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AMFR

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

No data available for 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
  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
  3. Sterol-regulated degradation of Insig-1 mediated by the membrane-bound ubiquitin ligase gp78. (PMID: 17043353) Lee JN … Ye J (The Journal of biological chemistry 2006) 3 4 22
  4. 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
  5. 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

Products for AMFR Gene

Sources for AMFR Gene