LOCUS       NM_001144               3607 bp    mRNA    linear   PRI 27-APR-2025
DEFINITION  Homo sapiens autocrine motility factor receptor (AMFR), transcript
            variant 3, mRNA.
ACCESSION   NM_001144
VERSION     NM_001144.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3607)
  AUTHORS   Deng,R., Medico-Salsench,E., Nikoncuk,A., Ramakrishnan,R.,
            Lanko,K., Kuhn,N.A., van der Linde,H.C., Lor-Zade,S.,
            Albuainain,F., Shi,Y., Yousefi,S., Capo,I., van den Herik,E.M., van
            Slegtenhorst,M., van Minkelen,R., Geeven,G., Mulder,M.T.,
            Ruijter,G.J.G., Lutjohann,D., Jacobs,E.H., Houlden,H.,
            Pagnamenta,A.T., Metcalfe,K., Jackson,A., Banka,S., De Simone,L.,
            Schwaede,A., Kuntz,N., Palculict,T.B., Abbas,S., Umair,M.,
            AlMuhaizea,M., Colak,D., AlQudairy,H., Alsagob,M., Pereira,C.,
            Trunzo,R., Karageorgou,V., Bertoli-Avella,A.M., Bauer,P.,
            Bouman,A., Hoefsloot,L.H., van Ham,T.J., Issa,M., Zaki,M.S.,
            Gleeson,J.G., Willemsen,R., Kaya,N., Arold,S.T., Maroofian,R.,
            Sanderson,L.E. and Barakat,T.S.
  TITLE     AMFR dysfunction causes autosomal recessive spastic paraplegia in
            human that is amenable to statin treatment in a preclinical model
  JOURNAL   Acta Neuropathol 146 (2), 353-368 (2023)
   PUBMED   37119330
  REMARK    GeneRIF: AMFR dysfunction causes autosomal recessive spastic
            paraplegia in human that is amenable to statin treatment in a
            preclinical model.
REFERENCE   2  (bases 1 to 3607)
  AUTHORS   Xu,J., Ma,H., Wang,Q. and Zhang,H.
  TITLE     Expression of autocrine motility factor receptor (AMFR) in human
            breast and lung invasive micropapillary carcinomas
  JOURNAL   Int J Exp Pathol 104 (1), 43-51 (2023)
   PUBMED   36576071
  REMARK    GeneRIF: Expression of autocrine motility factor receptor (AMFR) in
            human breast and lung invasive micropapillary carcinomas.
REFERENCE   3  (bases 1 to 3607)
  AUTHORS   Zhang,H., Wei,R., Yang,X., Xu,L., Jiang,H., Li,M., Jiang,H.,
            Zhang,H., Chen,Z., Qian,F. and Sun,L.
  TITLE     AMFR drives allergic asthma development by promoting alveolar
            macrophage-derived GM-CSF production
  JOURNAL   J Exp Med 219 (5) (2022)
   PUBMED   35333296
  REMARK    GeneRIF: AMFR drives allergic asthma development by promoting
            alveolar macrophage-derived GM-CSF production.
REFERENCE   4  (bases 1 to 3607)
  AUTHORS   Zheng,S., Zhao,D., Hou,G., Zhao,S., Zhang,W., Wang,X., Li,L.,
            Lin,L., Tang,T.S. and Hu,Y.
  TITLE     iASPP suppresses Gp78-mediated TMCO1 degradation to maintain Ca2+
            homeostasis and control tumor growth and drug resistance
  JOURNAL   Proc Natl Acad Sci U S A 119 (6) (2022)
   PUBMED   35121659
  REMARK    GeneRIF: iASPP suppresses Gp78-mediated TMCO1 degradation to
            maintain Ca(2+) homeostasis and control tumor growth and drug
            resistance.
REFERENCE   5  (bases 1 to 3607)
  AUTHORS   Mookherjee,D., Das,S., Mukherjee,R., Bera,M., Jana,S.C.,
            Chakrabarti,S. and Chakrabarti,O.
  TITLE     RETREG1/FAM134B mediated autophagosomal degradation of AMFR/GP78
            and OPA1 -a dual organellar turnover mechanism
  JOURNAL   Autophagy 17 (7), 1729-1752 (2021)
   PUBMED   32559118
  REMARK    GeneRIF: RETREG1/FAM134B mediated autophagosomal degradation of
            AMFR/GP78 and OPA1 -a dual organellar turnover mechanism.
REFERENCE   6  (bases 1 to 3607)
  AUTHORS   Luo,Y., Long,J.M., Lu,C., Chan,S.L., Spangler,E.L., Mascarucci,P.,
            Raz,A., Longo,D.L., Mattson,M.P., Ingram,D.K. and Weng,N.P.
  TITLE     A link between maze learning and hippocampal expression of
            neuroleukin and its receptor gp78
  JOURNAL   J Neurochem 80 (2), 354-361 (2002)
   PUBMED   11902125
  REMARK    GeneRIF: hippocampal expression of NLK and its receptor gp78 is
            associated with maze learning in rats.
REFERENCE   7  (bases 1 to 3607)
  AUTHORS   Fang,S., Ferrone,M., Yang,C., Jensen,J.P., Tiwari,S. and
            Weissman,A.M.
  TITLE     The tumor autocrine motility factor receptor, gp78, is a ubiquitin
            protein ligase implicated in degradation from the endoplasmic
            reticulum
  JOURNAL   Proc Natl Acad Sci U S A 98 (25), 14422-14427 (2001)
   PUBMED   11724934
REFERENCE   8  (bases 1 to 3607)
  AUTHORS   Shimizu,K., Tani,M., Watanabe,H., Nagamachi,Y., Niinaka,Y.,
            Shiroishi,T., Ohwada,S., Raz,A. and Yokota,J.
  TITLE     The autocrine motility factor receptor gene encodes a novel type of
            seven transmembrane protein
  JOURNAL   FEBS Lett 456 (2), 295-300 (1999)
   PUBMED   10456327
REFERENCE   9  (bases 1 to 3607)
  AUTHORS   Huang,B., Xie,Y. and Raz,A.
  TITLE     Identification of an upstream region that controls the
            transcription of the human autocrine motility factor receptor
  JOURNAL   Biochem Biophys Res Commun 212 (3), 727-742 (1995)
   PUBMED   7626106
REFERENCE   10 (bases 1 to 3607)
  AUTHORS   Watanabe,H., Carmi,P., Hogan,V., Raz,T., Silletti,S., Nabi,I.R. and
            Raz,A.
  TITLE     Purification of human tumor cell autocrine motility factor and
            molecular cloning of its receptor
  JOURNAL   J Biol Chem 266 (20), 13442-13448 (1991)
   PUBMED   1649192
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092140.4, BC069197.1,
            BX345849.2, CA748782.1, AC009102.10, BX409690.2 and AA767223.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001144.5.
            
            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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.88703.1,
                                           SRR1803617.150525.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000290649.10/ ENSP00000290649.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 AC092140.4         119070-119076       c
            8-2484              BC069197.1         1-2477
            2485-2485           BX345849.2         166-166
            2486-3079           BC069197.1         2479-3072
            3080-3295           CA748782.1         320-535             c
            3296-3305           AC009102.10        35727-35736
            3306-3360           CA748782.1         265-319             c
            3361-3361           BX409690.2         220-220
            3362-3607           AA767223.1         32-277              c
FEATURES             Location/Qualifiers
     source          1..3607
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q13"
     gene            1..3607
                     /gene="AMFR"
                     /gene_synonym="GP78; RNF45; SPG89"
                     /note="autocrine motility factor receptor"
                     /db_xref="GeneID:267"
                     /db_xref="HGNC:HGNC:463"
                     /db_xref="MIM:603243"
     exon            1..473
                     /gene="AMFR"
                     /gene_synonym="GP78; RNF45; SPG89"
                     /inference="alignment:Splign:2.1.0"
     CDS             219..2150
                     /gene="AMFR"
                     /gene_synonym="GP78; RNF45; SPG89"
                     /EC_number="2.3.2.36"
                     /note="isoform c is encoded by transcript variant 3; RING
                     finger protein 45; E3 ubiquitin-protein ligase AMFR;
                     RING-type E3 ubiquitin transferase AMFR"
                     /codon_start=1
                     /product="E3 ubiquitin-protein ligase AMFR isoform c"
                     /protein_id="NP_001135.3"
                     /db_xref="CCDS:CCDS10758.1"
                     /db_xref="GeneID:267"
                     /db_xref="HGNC:HGNC:463"
                     /db_xref="MIM:603243"
                     /translation="MPLLFLERFPWPSLRTYTGLSGLALLGTIISAYRALSQPEAGPG
                     EPDQLTASLQPEPPAPARPSAGGPRARDVAQYLLSDSLFVWVLVNTACCVLMLVAKLI
                     QCIVFGPLRVSERQHLKDKFWNFIFYKFIFIFGVLNVQTVEEVVMWCLWFAGLVFLHL
                     MVQLCKDRFEYLSFSPTTPMSSHGRVLSLLVAMLLSCCGLAAVCSITGYTHGMHTLAF
                     MAAESLLVTVRTAHVILRYVIHLWDLNHEGTWEGKGTYVYYTDFVMELTLLSLDLMHH
                     IHMLLFGNIWLSMASLVIFMQLRYLFHEVQRRIRRHKNYLRVVGNMEARFAVATPEEL
                     AVNNDDCAICWDSMQAARKLPCGHLFHNSCLRSWLEQDTSCPTCRMSLNIADNNRVRE
                     EHQGENLDENLVPVAAAEGRPRLNQHNHFFHFDGSRIASWLPSFSVEVMHTTNILGIT
                     QASNSQLNAMAHQIQEMFPQVPYHLVLQDLQLTRSVEITTDNILEGRIQVPFPTQRSD
                     SIRPALNSPVERPSSDQEEGETSAQTERVPLDLSPRLEETLDFGEVEVEPSEVEDFEA
                     RGSRFSKSADERQRMLVQRKDELLQQARKRFLNKSSEDDAASESFLPSEGASSDPVTL
                     RRRMLAAAAERRLQKQQTS"
     exon            474..566
                     /gene="AMFR"
                     /gene_synonym="GP78; RNF45; SPG89"
                     /inference="alignment:Splign:2.1.0"
     exon            567..731
                     /gene="AMFR"
                     /gene_synonym="GP78; RNF45; SPG89"
                     /inference="alignment:Splign:2.1.0"
     exon            732..884
                     /gene="AMFR"
                     /gene_synonym="GP78; RNF45; SPG89"
                     /inference="alignment:Splign:2.1.0"
     exon            885..925
                     /gene="AMFR"
                     /gene_synonym="GP78; RNF45; SPG89"
                     /inference="alignment:Splign:2.1.0"
     exon            926..1058
                     /gene="AMFR"
                     /gene_synonym="GP78; RNF45; SPG89"
                     /inference="alignment:Splign:2.1.0"
     exon            1059..1192
                     /gene="AMFR"
                     /gene_synonym="GP78; RNF45; SPG89"
                     /inference="alignment:Splign:2.1.0"
     exon            1193..1303
                     /gene="AMFR"
                     /gene_synonym="GP78; RNF45; SPG89"
                     /inference="alignment:Splign:2.1.0"
     exon            1304..1494
                     /gene="AMFR"
                     /gene_synonym="GP78; RNF45; SPG89"
                     /inference="alignment:Splign:2.1.0"
     exon            1495..1598
                     /gene="AMFR"
                     /gene_synonym="GP78; RNF45; SPG89"
                     /inference="alignment:Splign:2.1.0"
     exon            1599..1733
                     /gene="AMFR"
                     /gene_synonym="GP78; RNF45; SPG89"
                     /inference="alignment:Splign:2.1.0"
     exon            1734..1817
                     /gene="AMFR"
                     /gene_synonym="GP78; RNF45; SPG89"
                     /inference="alignment:Splign:2.1.0"
     exon            1818..2002
                     /gene="AMFR"
                     /gene_synonym="GP78; RNF45; SPG89"
                     /inference="alignment:Splign:2.1.0"
     exon            2003..3607
                     /gene="AMFR"
                     /gene_synonym="GP78; RNF45; SPG89"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3590..3595
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMFR"
                     /gene_synonym="GP78; RNF45; SPG89"
                     /note="hexamer: AATAAA"
     polyA_site      3607
                     /gene="AMFR"
                     /gene_synonym="GP78; RNF45; SPG89"
                     /note="major polyA site"
ORIGIN      
        1 gcccaggctc ttccgcgccg gcaggggcag cagcgggagc agcgcggggc ggagcggcgc
       61 cagcagccag gagcggcccg gcccggcccg gcgcggcggc ggcggcggca gcggcagcgg
      121 cagcgacgcc agagcccgtg ggcgccgttc gcgaggccgc cgcagaggcc cggccgcagc
      181 gcagggaagc ctgggggcca gaggtcgccg ctgccgccat gccgctgctc ttcctcgagc
      241 gcttcccctg gcccagcctc cgcacctaca cgggcctcag cggcctggcc ctgctgggca
      301 ccatcatcag cgcctaccgc gcgctcagcc agcccgaggc cggccccggc gagccggacc
      361 agctaacggc ctcgctgcag cctgagccgc cggcgcccgc ccggccgagc gccgggggac
      421 cccgggcccg cgatgtggcc cagtacctgc tctcagacag cctcttcgtg tgggttctag
      481 taaataccgc ttgctgtgtt ttgatgttgg tggctaagct catccagtgt attgtgtttg
      541 gccctcttcg agtgagtgag agacagcatc tcaaagacaa attttggaat tttattttct
      601 acaagttcat tttcatcttt ggtgtgctga atgtccagac agtggaagag gtggtcatgt
      661 ggtgcctctg gtttgccgga cttgtctttc tgcacctgat ggttcagctc tgcaaggatc
      721 gatttgaata tctttccttc tcgcccacca cgccgatgag cagccacggt cgagtcctgt
      781 ccctgttggt tgccatgctg ctttcctgct gtggactggc ggccgtctgc tccatcaccg
      841 gctacaccca cggaatgcac accttggctt tcatggctgc agagtctctt cttgtgacag
      901 tgaggactgc tcatgtgatt ttacgatacg taattcacct ctgggacctc aaccacgaag
      961 ggacgtggga aggaaagggg acgtatgtct attacacaga ctttgtcatg gagctcactc
     1021 tcctgtccct ggacctcatg caccatattc acatgttgtt atttggcaac atctggttat
     1081 ccatggccag cctggtcatc tttatgcagc tgcgttacct gtttcatgag gtgcaacgtc
     1141 gaattcgtcg gcacaagaac tatctacgtg tggttggaaa catggaggcc aggtttgcag
     1201 ttgcaactcc agaggagctg gctgtcaaca atgacgactg tgccatctgt tgggactcca
     1261 tgcaggctgc gcggaaactg ccctgtggac atcttttcca caactcctgt cttcgttcct
     1321 ggctagaaca agacacctcc tgtccaacat gcagaatgtc tcttaatatt gccgacaata
     1381 atcgtgtcag ggaagaacat caaggagaga acttggatga gaatttggtt cctgtagcag
     1441 cagccgaagg gagacctcgc ttaaaccaac acaatcactt cttccatttc gatgggtctc
     1501 ggattgcgag ctggctgccg agtttttcgg ttgaagtgat gcacaccacc aacattcttg
     1561 gcattacgca ggccagcaac tcccagctca atgcaatggc tcatcagatt caagagatgt
     1621 ttccccaggt tccataccat ctggtactgc aggacctcca gctgacacgc tcagttgaaa
     1681 taacaacaga caatatttta gaaggacgga ttcaagtacc ttttcctaca cagcggtcag
     1741 atagcatcag acctgcattg aacagtcctg tggaaaggcc aagcagtgac caggaagagg
     1801 gagaaacttc tgctcagacc gagcgtgtgc cactggacct cagtcctcgc ctggaggaga
     1861 cgctggactt cggcgaggtg gaagtggagc ccagtgaggt ggaagacttc gaggctcgtg
     1921 ggagccgctt ctccaagtct gctgatgaga gacagcgcat gctggtgcag cgtaaggacg
     1981 aactcctcca gcaagctcgc aaacgtttct tgaacaaaag ttctgaagat gatgcggcct
     2041 cagagagctt cctcccctcg gaaggtgcgt cctctgaccc cgtgaccctg cgtcgaagga
     2101 tgctggctgc cgccgcggaa cggaggcttc agaagcagca gacctcctag cgctcccttg
     2161 ccttcctcag ctgcctcctg cgccctgtgc ccgactgact ggaggaggcc tgtcccaatt
     2221 ctgcccgctc catggaaaag cgggcttgac tgcattgccg ctgtataaag catgtggtct
     2281 tatagtgttt ggacagctga taaatttaat ccttctttgt aatactttct atgtgacatt
     2341 tctcttcccc ttagaaacac tgcaaatttt aactgtaggt atgatctctt ctggtgttga
     2401 ctggactgct tggggtgggg gacgatcagg aggaagtgag cagtcgcctg cctgcagcag
     2461 gcagcttcta ctcctgcctc atgcgtacgt cccacaaatg caggtgtcct gagcaccaca
     2521 cccagtggga agagtgtggg ggaggcgcac agtgtgagcc cgcccccacg tcgtggggta
     2581 acatctgtta tcaaactgct gtcgttgttg tggaagcatg tagactgtgc cagaggccag
     2641 acccacgggc tcatgcaccc ctgagccagc agggcatctt ggaaaaggaa ctcttggttc
     2701 gatacctgga gcagaggagg ggaaagtcca gggctatagg gtgtgatgaa gtcacccctt
     2761 tctgtcccac tacatctggg actgactttc cgagcctcca gtccaaagcc ggcttgattt
     2821 ccgtgaactc tggtgctcct gcatctcatg agtgtgcccc atgggtcccc tcccctctca
     2881 gcatttcctt gtcccgtctg gacctgggga gtggttaggc agcaagcttt ggtttatggt
     2941 tttcattcat tggtgaagta aattaggcag tgctaaagcc tgtgggtttg gtccttgaac
     3001 aagatgtggg ccttgcaaga tgggagagta aaccttgaag ggctttatta aagaaataaa
     3061 aaagaacttt tgtatctttt atcctgggag cactgcgttt tcctagctgt gttattcctg
     3121 gtttaattca gcagagaagg taaggtgtga acctacctgc cttggagagg gcccaggtcc
     3181 caaatctctt caaattcttc acatgtttaa ctttaaggat ttgaaccatg aagtcatagg
     3241 ttacagacct cagttttatg ccccattgga ttactttttt tttttttttt tttttttttt
     3301 tttttactct ttgaaagctt tgttttgtgg tagtcctttt gggaagaatc cagtattatc
     3361 cacaattatt ggcaaagttt aaatgtattt tacataacgg aaagttttta gaatgttgaa
     3421 aagtaattga aaaaggtgat aggtaaattt ttaggcaaag ataatttatt tcaataaatc
     3481 tttcaaaagc cttaccttga aatgctgtta gtaaatttct gtgatttttt tttttaattt
     3541 gttttgctga gagcatagct atttgttttt attgtaaaac aataataata ataaaaagca
     3601 aactcta
//
