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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AMFR Gene

protein-coding   GIFtS: 64
GCID: GC16M056395

Autocrine Motility Factor Receptor, E3 Ubiquitin Protein...

(Previous name: autocrine motility factor receptor)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Autocrine Motility Factor Receptor, E3 Ubiquitin Protein Ligase1 2     E3 Ubiquitin-Protein Ligase AMFR2
Autocrine Motility Factor Receptor1 3     EC 6.3.2.-3
RNF452 3     AMF Receptor3
RING Finger Protein 452 3     gp783
GP782 5     

External Ids:    HGNC: 4631   Entrez Gene: 2672   Ensembl: ENSG000001594617   OMIM: 6032435   UniProtKB: Q9UKV53   

Export aliases for AMFR gene to outside databases

Previous GC identifers: GC16M046778 GC16M056447 GC16M056130 GC16M056170 GC16M054952 GC16M042266


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, E3 ubiquitin protein ligase) is a protein-coding gene. Diseases associated with AMFR include bladder carcinoma, and cutaneous malignant melanoma, and among its related super-pathways are Regulation of degradation of wt-CFTR and G2-M Phase Transition. GO annotations related to this gene include ubiquitin-protein ligase activity and receptor activity. An important paralog of this gene is SYVN1.

UniProtKB/Swiss-Prot: AMFR_HUMAN, Q9UKV5
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

Gene Wiki entry for AMFR Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010498.15  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AMFR gene promoter:
         TBP   AML1a   AP-4   NF-AT   Roaz   RORalpha1   Nkx6-1   COMP1   STAT3   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAMFR promoter sequence
   Search SABiosciences Chromatin IP Primers for AMFR

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AMFR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q21   Ensembl cytogenetic band:  16q12.2   HGNC cytogenetic band: 16q21

AMFR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AMFR gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M056395:  view genomic region     (about GC identifiers)

Start:
56,395,364 bp from pter      End:
56,459,450 bp from pter
Size:
64,087 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AMFR_HUMAN, Q9UKV5 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase AMFR  
Size: 643 amino acids; 72996 Da
Subunit: 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
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
Sequence caution: Sequence=AAA36671.1; Type=Miscellaneous discrepancy; Note=Several sequencing errors;
Sequence=AAA79362.1; Type=Frameshift; Positions=355, 388, 411, 487, 537, 583, 632;
6/9 PDB 3D structures from and Proteopedia for AMFR (see all 9):
2EJS (3D)        2LVN (3D)        2LVO (3D)        2LVP (3D)        2LVQ (3D)        3FSH (3D)    
Secondary accessions: P26442 Q8IZ70

Explore the universe of human proteins at neXtProt for AMFR: NX_Q9UKV5

Explore proteomics data for AMFR at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UKV5

  • AMFR Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AMFR Protein Expression
    REFSEQ proteins: NP_001135.3  
    ENSEMBL proteins: 
     ENSP00000290649   ENSP00000473636   ENSP00000456288   ENSP00000456745   ENSP00000455842  

    Human Recombinant Protein Products for AMFR: 
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    Novus Biologicals AMFR Protein
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for AMFR 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane NAS1649192
    GO:0030176integral to endoplasmic reticulum membrane IDA11724934

    AMFR for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for AMFR


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    RNF: RING-type (C3HC4) zinc fingers

    4 InterPro protein domains:
     IPR001841 Znf_RING
     IPR013083 Znf_RING/FYVE/PHD
     IPR026608 Amfr
     IPR003892 CUE

    Graphical View of Domain Structure for InterPro Entry Q9UKV5

    ProtoNet protein and cluster: Q9UKV5

    2 Blocks protein domains:
    IPB001841 Zn-finger
    IPB003892 Ubiquitin system component Cue


    UniProtKB/Swiss-Prot: AMFR_HUMAN, Q9UKV5
    Domain: The VCP/p97-interacting motif (VIM) is sufficient for binding VCP/p97 to form a complex capable of
    transfering VCP/p97 from the cytosol to microsomes
    Similarity: Contains 1 CUE domain
    Similarity: Contains 1 RING-type zinc finger


    AMFR for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AMFR_HUMAN, Q9UKV5
    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

         Genatlas biochemistry entry for AMFR:
    autocrine motility factor receptor

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IMP16168377
    GO:0004872receptor activity IPI1649192
    GO:0005515protein binding IPI11724934
    GO:0008270zinc ion binding IEA--
    GO:0046872metal ion binding ----
         
    AMFR for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for AMFR:
     Decreased focal adhesion (FA)   Increased Salmonella enterica   Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for AMFR 
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    SwitchGear 3'UTR luciferase reporter plasmidAMFR 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for AMFR About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Regulation of degradation of wt-CFTR
    Regulation of degradation of deltaF508 CFTR in CF0.59
    2Chks in Checkpoint Regulation
    SREBP Proteolysis0.43
    3Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    SREBP signalling0.37
    4Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum
    5Protein Stability
    Protein Stability

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for AMFR
        SREBP Proteolysis

    1 Cell Signaling Technology (CST) Pathway for AMFR
        Protein Stability

    1 GeneGo (Thomson Reuters) Pathway for AMFR
        Regulation of degradation of deltaF508 CFTR in CF

    1 BioSystems Pathway for AMFR
        SREBP signalling


    1         Kegg Pathway  (Kegg details for AMFR):
        Protein processing in endoplasmic reticulum

    UniProtKB/Swiss-Prot: AMFR_HUMAN, Q9UKV5
    Pathway: Protein modification; protein ubiquitination


    AMFR for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AMFR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/80 Interacting proteins for AMFR (Q9UKV51, 2, 3 ENSP000002906494) via UniProtKB, MINT, STRING, and/or I2D (see all 80)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    VCPP550721, 3, ENSP000003517774EBI-1046367,EBI-355164 I2D: score=5 STRING: ENSP00000351777
    CRMP1Q141942, 3, ENSP000003216064MINT-8247685 I2D: score=2 STRING: ENSP00000321606
    TOM1L1O756742, 3, ENSP000004089584MINT-8247696 I2D: score=2 STRING: ENSP00000408958
    RNF5Q999423, ENSP000003642354I2D: score=1 STRING: ENSP00000364235
    ENSG00000183574Q999423I2D: score=1 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000209protein polyubiquitination IDA17310145
    GO:0006511ubiquitin-dependent protein catabolic process IMP16168377
    GO:0006928cellular component movement TAS1649192
    GO:0007165signal transduction TAS1649192
    GO:0030433ER-associated protein catabolic process IMP16168377

    AMFR for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    AMFR for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for AMFR

    4 HMDB Compounds for AMFR    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    6 Novoseek inferred chemical compound relationships for AMFR gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ilimaquinone 77.2 13 9365274 (6), 16709164 (1)
    nocodazole 33.6 2 9365274 (1)
    vegf 15.3 5 11269478 (3), 17115102 (1), 10800788 (1)
    cholesterol 4.6 4 17681147 (2), 11724808 (1)
    estrogen 0 1 10545751 (1)
    retinoic acid 0 2 7895580 (2)

    Search CenterWatch for drugs/clinical trials and news about AMFR

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for AMFR gene (2 alternative transcripts): 
    NM_001144.5  NM_138958.1  

    Unigene Cluster for AMFR:

    Autocrine motility factor receptor, E3 ubiquitin protein ligase
    Hs.295137  [show with all ESTs]
    Unigene Representative Sequence: NM_001144
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000290649(uc002eix.3 uc002eiy.3) ENST00000492830 ENST00000566757
    ENST00000568325 ENST00000563285 ENST00000567738 ENST00000566334 ENST00000568762
    ENST00000565445 ENST00000563664 ENST00000568657 ENST00000564283
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    Additional mRNA sequence: 

    AF124145.1 AK023874.1 AK123962.1 BC017043.1 BC051032.1 BC056869.1 BC069197.1 BC153819.1 
    L35233.1 M63175.1 

    14 DOTS entries:

    DT.92450014  DT.100798860  DT.92450015  DT.101983903  DT.40307474  DT.92450022  DT.100798870  DT.100798868 
    DT.100709573  DT.455385  DT.87016079  DT.92450016  DT.95334745  DT.95348055 

    24/288 AceView cDNA sequences (see all 288):

    BF348165 BM844960 BU859198 BQ771851 CA425340 AW016513 CR625924 CB216174 
    BM821600 CA314535 BE712868 AA927377 CA314528 AA280077 CA432071 BQ065453 
    AI912847 BM999376 CR612799 BM700037 CA426429 BM818525 AL047396 BC056869 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for AMFR    About this scheme

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


    ECgene alternative splicing isoforms for AMFR

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AMFR expression in normal human tissues (normalized intensities)      AMFR embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGTCATAGG
    AMFR Expression
    About this image


    AMFR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/33 selected tissues (see all 33) fully expand
     
     Brain (Nervous System)    fully expand to see all 17 entries
             Thalamus
             Septum   
     
     Uterus (Reproductive System)    fully expand to see all 5 entries
             uterus, post-menopause ; glandular cells   
             endometrial endothelial cell   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; endothelial cells   
     
     Epithelium (Uncategorized)    fully expand to see all 4 entries
             vagina ; squamous epithelial cells   

    See AMFR Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AMFR

    SOURCE GeneReport for Unigene cluster: Hs.295137
        SABiosciences Expression via Pathway-Focused PCR Arrays including AMFR: 
              Unfolded Protein Response in human mouse rat
              Ubiquitin Ligases in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for AMFR gene from 8/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Amfr1 , 5 autocrine motility factor receptor1, 5 88.78(n)1
    94.68(a)1
      8 (45.96 cM)5
    238021  NM_011787.21  NP_035917.21 
     939715885 
    chicken
    (Gallus gallus)
    Aves AMFR1 autocrine motility factor receptor 79.53(n)
    87.78(a)
      415697  XM_414064.3  XP_414064.3 
    lizard
    (Anolis carolinensis)
    Reptilia AMFR6
    Uncharacterized protein
    86(a)
    1 ↔ 1
    GL343675.1(58770-85166)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC684592 hypothetical protein MGC68459 79.15(n)    BC060333.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.195422 Danio rerio cDNA clone MGC63893 IMAGE6789887, complete more 77.29(n)    BC057411.1 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0075381 AGAP007538-PA 55.51(n)
    48.97(a)
      4576491  XM_001237061.2  XP_001237062.2 
    worm
    (Caenorhabditis elegans)
    Secernentea hrdl-11 Protein HRDL-1 39.44(n)
    25.98(a)
      172833  NM_060201.3  NP_492602.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HRD16
    Ubiquitin-protein ligase required for endoplasmic ...
    10(a)
    1 → many
    XV(301380-303035)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AMFR gene
    SYVN12  RNF1392  RNF1452  
    2 SIMAP similar genes for AMFR using alignment to 7 protein entries:     AMFR_HUMAN (see all proteins):
    TRIM3    RAD18

    AMFR for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1338 SNPs in AMFR are shown (see all 1338)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0357904
    A breast cancer sample4--see VAR_0357902 D V mis40--------
    rs26178451,2
    C,F,H--56394937(+) TGCTCT/CAAACA 1 -- ds50015Minor allele frequency- C:0.02NS EA WA 522
    rs1443962001,2
    C--56394956(+) GGCTG-/GGT   
       TTTTT
    TTTTG
    1 -- ds50010--------
    rs1893082091,2
    C--56395034(+) ACATGC/TGGAAT 1 -- ds50010--------
    rs1812943661,2
    --56395085(+) TAATTC/TGAGGA 1 -- ds50010--------
    rs1497886141,2
    --56395107(+) TCTTTC/TGCTAC 1 -- ds50010--------
    rs1398972711,2
    --56395123(+) TACCT-/GAAAAA 1 -- ds50010--------
    rs1131270221,2
    C--56395124(+) ACCTG-/AAAAAA 1 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs285060131,2
    F--56395379(+) TTTTTT/ATTATT 1 -- ut311Minor allele frequency- A:0.50NA 4
    rs106491271,2
    C--56395435(+) AAAAA-/A/AA  
            
    TCACA
    2 -- ut31 trp31CSA 2

    HapMap Linkage Disequilibrium report for AMFR (56395364 - 56459450 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for AMFR:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2714510CNV Deletion23290073
    nsv525929CNV Loss19592680
    nsv906714CNV Loss21882294
    dgv2870n71CNV Loss21882294
    nsv906715CNV Loss21882294
    nsv833242CNV Loss17160897
    nsv519979CNV Loss19592680
    esv29720CNV Loss19812545
    nsv833243CNV Gain17160897

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603243    OMIM disorders: --

    20/34 diseases for AMFR (see all 34):    About MalaCards
    bladder carcinoma    cutaneous malignant melanoma    japanese encephalitis    fibrosarcoma
    giant cell tumor    adult t-cell leukemia    thymoma    transitional cell carcinoma
    encephalitis    sinusitis    cholera    esophageal squamous cell carcinoma
    choriocarcinoma    gastric cancer    t-cell leukemia    nasopharyngitis
    cytochrome p450    melanoma    colorectal cancer    cystic fibrosis

    1 disease from the University of Copenhagen DISEASES database for AMFR:
    Infertility

    AMFR for disorders           About GeneDecksing

    10/17 Novoseek inferred disease relationships for AMFR gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    metastasis 52.6 33 11724934 (2), 8980404 (2), 18037895 (2), 12209971 (2) (see all 20)
    tumors 47.2 72 12962414 (4), 11668522 (4), 11269478 (3), 7591303 (2) (see all 30)
    bladder carcinoma 38.1 4 8205527 (3), 9176385 (1)
    fibrosarcoma 20.1 5 1649192 (2), 14968121 (1)
    melanoma 20 4 2153051 (1), 9533771 (1), 12563351 (1), 8832943 (1)
    cancer lung 19.2 11 11748469 (4), 12962414 (3), 11668522 (2)
    carcinoma transitional cell 17.8 3 7490884 (2), 14685796 (1)
    bladder cancer 17.3 1 8205527 (1)
    nsclc 12.8 13 12962414 (3), 11668522 (3), 11269478 (2)
    carcinoma squamous cell 0 5 7591303 (3)


    Export disorders for AMFR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for AMFR gene, integrated from 9 sources (see all 146):
    (articles sorted by number of sources associating them with AMFR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Purification of human tumor cell autocrine motility factor and molecular cloning of its receptor. (PubMed id 1649192)1, 2, 3, 9 Watanabe H....Raz A. (1991)
    2. The tumor autocrine motility factor receptor, gp78, is a ubiquitin protein ligase implicated in degradation from the endoplasmic reticulum. (PubMed id 11724934)1, 2, 9 Fang S.... Weissman A.M. (2001)
    3. The autocrine motility factor receptor gene encodes a novel type of seven transmembrane protein. (PubMed id 10456327)1, 2, 9 Shimizu K.... Yokota J. (1999)
    4. CYP3A4 ubiquitination by gp78 (the tumor autocrine motility factor receptor, AMFR) and CHIP E3 ligases. (PubMed id 19103148)1, 2, 9 Pabarcus M.K....Correia M.A. (2009)
    5. Overexpression of the tumor autocrine motility factor receptor, gp78, a ubiquitin protein ligase (E3), results in increased ubiquitinylation and decreased secretion of apolipoprotein B100 in Hep G2 cells. (PubMed id 12670940)1, 2, 9 Liang J.S....Ginsberg H.N. (2003)
    6. Gp78, a membrane-anchored ubiquitin ligase, associates with Insig-1 and couples sterol-regulated ubiquitination to degradation of HMG CoA reductase. (PubMed id 16168377)1, 2, 9 Song B.L....DeBose-Boyd R.A. (2005)
    7. Identification of an upstream region that controls the transcription of the human autocrine motility factor receptor. (PubMed id 7626106)1, 2, 9 Huang B.... Raz A. (1995)
    8. Recruitment of the p97 ATPase and ubiquitin ligases to the site of retrotranslocation at the endoplasmic reticulum membrane. (PubMed id 16186510)1, 2 Ye Y....Rapoport T.A. (2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Autocrine motility factor-receptor gene expression in lung cancer. (PubMed id 12962414)1, 9 Takanami I. and Takeuchi K. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 267 HGNC: 463 AceView: AMFR Ensembl:ENSG00000159461 euGenes: HUgn267
    ECgene: AMFR Kegg: 267 H-InvDB: AMFR

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AMFR Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for AMFR Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for AMFR gene:
    Search GeneIP for patents involving AMFR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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