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

    Gene ID: 267, updated on 22-Sep-2022

    Summary

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

    See AMFR in Genome Data Viewer
    Location:
    16q13
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (56361452..56425545, complement)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (62156498..62220616, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (56395364..56459457, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene GNAO1 antisense RNA 1 Neighboring gene G protein subunit alpha o1 Neighboring gene microRNA 3935 Neighboring gene nudix hydrolase 21 Neighboring gene 2-oxoglutarate and iron dependent oxygenase domain containing 1 Neighboring gene Bardet-Biedl syndrome 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables BAT3 complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables BAT3 complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables chaperone binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-macromolecule adaptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables signaling receptor activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin protein ligase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin-protein transferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables ubiquitin-specific protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin-ubiquitin ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in aging IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endoplasmic reticulum mannose trimming TAS
    Traceable Author Statement
    more info
     
    involved_in endoplasmic reticulum unfolded protein response IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in endoplasmic reticulum unfolded protein response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in learning or memory IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein K48-linked ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein K48-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein autoubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein polyubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein polyubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of SREBP signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in ubiquitin-dependent ERAD pathway IC
    Inferred by Curator
    more info
    PubMed 
    involved_in ubiquitin-dependent ERAD pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ubiquitin-dependent ERAD pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ubiquitin-dependent ERAD pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of Derlin-1 retrotranslocation complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum quality control compartment IEA
    Inferred from Electronic Annotation
    more info
     
    located_in growth cone IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane HDA PubMed 
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    E3 ubiquitin-protein ligase AMFR
    Names
    RING finger protein 45
    RING-type E3 ubiquitin transferase AMFR
    NP_001135.3
    NP_001310440.1
    NP_001310441.1
    XP_005255947.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_047034.1 RefSeqGene

      Range
      4994..69087
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_001135.3

      Status: REVIEWED

      Source sequence(s)
      AA767223, AC009102, AC092140, BC069197, BX345849, BX409690, CA748782
      Consensus CDS
      CCDS10758.1
      UniProtKB/Swiss-Prot
      Q8IZ70, Q9UKV5
      Related
      ENSP00000290649.5, ENST00000290649.10
      Conserved Domains (4) summary
      COG5243
      Location:86382
      HRD1; HRD ubiquitin ligase complex, ER membrane component [Posttranslational modification, protein turnover, chaperones]
      cd14421
      Location:458498
      CUE_AMFR; CUE domain found in autocrine motility factor receptor (AMFR) and similar proteins
      cd16455
      Location:339382
      RING-H2_AMFR; RING finger, H2 subclass, found in autocrine motility factor receptor (AMFR) and similar proteins
      pfam18442
      Location:575600
      G2BR; E3 gp78 Ube2g2-binding region (G2BR)
    2. NM_001323511.2NP_001310440.1  E3 ubiquitin-protein ligase AMFR isoform e

      Status: REVIEWED

      Source sequence(s)
      AA280077, AC009102, AC092140, BC051032, BQ889409, CD642692
      UniProtKB/TrEMBL
      A0A024R6R5
      Conserved Domains (3) summary
      COG5243
      Location:2287
      HRD1; HRD ubiquitin ligase complex, ER membrane component [Posttranslational modification, protein turnover, chaperones]
      cd14421
      Location:363403
      CUE_AMFR; CUE domain found in autocrine motility factor receptor (AMFR) and similar proteins
      pfam13639
      Location:244284
      zf-RING_2; Ring finger domain
    3. NM_001323512.2NP_001310441.1  E3 ubiquitin-protein ligase AMFR isoform d

      Status: REVIEWED

      Source sequence(s)
      AC009102, AC092140, BC051032, BC069197, BI766313, CA425340, DB172402, DR005354
      UniProtKB/Swiss-Prot
      Q9UKV5

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      56361452..56425545 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for XP_005255947.1

      UniProtKB/TrEMBL
      A0A024R6R5
      Conserved Domains (3) summary
      COG5243
      Location:2287
      HRD1; HRD ubiquitin ligase complex, ER membrane component [Posttranslational modification, protein turnover, chaperones]
      cd14421
      Location:363403
      CUE_AMFR; CUE domain found in autocrine motility factor receptor (AMFR) and similar proteins
      pfam13639
      Location:244284
      zf-RING_2; Ring finger domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      62156498..62220616 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_138958.1: Suppressed sequence

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