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Aliases for AMFR Gene

Aliases for AMFR Gene

  • Autocrine Motility Factor Receptor 2 3 4
  • Autocrine Motility Factor Receptor, E3 Ubiquitin Protein Ligase 2 3 5
  • RING Finger Protein 45 3 4
  • RNF45 3 4
  • GP78 3 4
  • AMF Receptor 4
  • EC 6.3.2.- 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. Diseases associated with AMFR include bladder cancer, somatic. Among its related pathways are Regulation of cholesterol biosynthesis by SREBP (SREBF) and Chks in Checkpoint Regulation. GO annotations related to this gene include ligase activity and receptor activity. An important paralog of this gene is RNF145.

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 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

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

Genomics for AMFR Gene

Regulatory Elements for AMFR Gene

Promoters for AMFR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AMFR on UCSC Golden Path with GeneCards custom track

Genomic Location for AMFR Gene

Chromosome:
16
Start:
56,361,452 bp from pter
End:
56,425,538 bp from pter
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. 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.
    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

Proteomics data for AMFR Gene at MOPED

Post-translational modifications for AMFR Gene

  • Ubiquitination at Lys 600
  • Modification sites at PhosphoSitePlus

Other Protein References for AMFR Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for AMFR (AMFR)

No data available for DME Specific Peptides for AMFR Gene

Domains & Families for AMFR Gene

Gene Families for AMFR Gene

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.
  • Contains 1 RING-type zinc finger.
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.
  • Contains 1 CUE domain.
Similarity:
  • Contains 1 RING-type zinc finger.
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 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 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

Gene Ontology (GO) - Molecular Function for AMFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030674 protein binding, bridging IMP 24424410
GO:0034450 ubiquitin-ubiquitin ligase activity IDA 24810856
GO:0051087 chaperone binding IPI 21636303
GO:0061630 ubiquitin protein ligase activity IDA 17310145
GO:1904288 BAT3 complex binding IPI 21636303
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:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AMFR Gene COMPARTMENTS Subcellular localization image for AMFR gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
cytosol 2
extracellular 2
nucleus 2
endosome 1
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for AMFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000838 Hrd1p ubiquitin ligase ERAD-M complex IBA --
GO:0016020 membrane IDA 19946888
GO:0030425 dendrite IEA --
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 BioSystems pathway for AMFR Gene
1 KEGG pathway for AMFR Gene
1 GeneGo (Thomson Reuters) pathway for AMFR Gene
1 Qiagen pathway for AMFR Gene

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:0006511 ubiquitin-dependent protein catabolic process IMP 16168377
GO:0007165 signal transduction TAS 1649192
GO:0030968 endoplasmic reticulum unfolded protein response IMP 17157811
GO:0032092 positive regulation of protein binding IMP 24424410
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 Nutra 0
Adenosine triphosphate Approved Nutra 0
Diphosphate Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
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:

Inhibitory RNA Products

Flow Cytometry Products

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 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, MOPED, and MaxQB for AMFR Gene



SOURCE GeneReport for Unigene cluster for AMFR Gene Hs.295137

genes like me logo Genes that share expression patterns with AMFR: view

Protein tissue co-expression partners for AMFR Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia AMFR 35
  • 89.99 (n)
  • 94.25 (a)
AMFR 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AMFR 35
  • 89.49 (n)
  • 95.16 (a)
AMFR 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Amfr 35
  • 88.78 (n)
  • 94.68 (a)
Amfr 16
Amfr 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AMFR 35
  • 99.82 (n)
  • 100 (a)
AMFR 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Amfr 35
  • 86 (n)
  • 91.03 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 90 (a)
OneToMany
-- 36
  • 72 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia AMFR 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves AMFR 35
  • 79.53 (n)
  • 87.78 (a)
AMFR 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AMFR 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia amfr 35
  • 70.22 (n)
  • 77.74 (a)
Str.7084 35
African clawed frog
(Xenopus laevis)
Amphibia MGC68459 35
zebrafish
(Danio rerio)
Actinopterygii amfr 35
  • 69.46 (n)
  • 74.06 (a)
Dr.19542 35
AMFR 36
  • 48 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5600 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007538 35
  • 55.24 (n)
  • 49.06 (a)
worm
(Caenorhabditis elegans)
Secernentea hrdl-1 35
  • 40.92 (n)
  • 27.35 (a)
hrdl-1 36
  • 21 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HRD1 36
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 46 (a)
OneToOne
Species with no ortholog for AMFR:
  • 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 Sequence Context AA Info Type
VAR_035790 A breast cancer sample
rs4924 -- 56,362,574(-) CATGC(A/G)TACGT utr-variant-3-prime
rs13468 -- 56,362,192(-) TGGGT(C/T)CCCTC utr-variant-3-prime
rs899242 -- 56,364,673(-) GGGGA(C/G)GTTGA intron-variant
rs731118 -- 56,364,207(+) TGGAC(C/G)CAAAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv833242 CNV Loss 17160897
nsv906714 CNV Loss 21882294
nsv519979 CNV Loss 19592680
nsv906715 CNV Loss 21882294
dgv2870n71 CNV Loss 21882294
nsv525929 CNV Loss 19592680
nsv833243 CNV Gain 17160897
esv2714510 CNV Deletion 23290073
esv29720 CNV Loss 19812545

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)

Relevant External Links for AMFR Gene

HapMap Linkage Disequilibrium report
AMFR

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

Disorders for AMFR Gene

MalaCards: The human disease database

(1) MalaCards diseases for AMFR Gene - From: DISEASES and Novoseek

Disorder Aliases PubMed IDs
bladder cancer, somatic
  • bladder carcinoma
- elite association - COSMIC cancer census association via MalaCards
Search AMFR in MalaCards View complete list of genes associated with diseases

Relevant External Links for AMFR

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (J. Biol. Chem. 1991) 2 3 4 23 67
  2. Differential regulation of CFTRDeltaF508 degradation by ubiquitin ligases gp78 and Hrd1. (PMID: 19828134) Ballar P. … Fang S. (Int. J. Biochem. Cell Biol. 2010) 3 23
  3. The E3 ubiquitin ligases Hrd1 and gp78 bind to and promote cholera toxin retro-translocation. (PMID: 19864457) Bernardi K.M. … Tsai B. (Mol. Biol. Cell 2010) 3 23
  4. Huntingtin interacts with the cue domain of gp78 and inhibits gp78 binding to ubiquitin and p97/VCP. (PMID: 20126661) Yang H. … Fang S. (PLoS ONE 2010) 3 23
  5. CYP3A4 ubiquitination by gp78 (the tumor autocrine motility factor receptor, AMFR) and CHIP E3 ligases. (PMID: 19103148) Pabarcus M.K. … Correia M.A. (Arch. Biochem. Biophys. 2009) 3 23

Products for AMFR Gene

Sources for AMFR Gene

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