LOCUS       NM_001635               3224 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.
ACCESSION   NM_001635
VERSION     NM_001635.4
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 3224)
  AUTHORS   Yao,X., Zhang,C., Zhang,Y., Geng,J., Bai,S., Hao,Y. and Guan,Y.
  TITLE     Amphiphysin-IgG autoimmune sciatic neuropathy and facial neuropathy
            related to primary central nervous system lymphoma: A case report
  JOURNAL   J Neuroimmunol 382, 578156 (2023)
   PUBMED   37556888
  REMARK    GeneRIF: Amphiphysin-IgG autoimmune sciatic neuropathy and facial
            neuropathy related to primary central nervous system lymphoma: A
            case report.
REFERENCE   2  (bases 1 to 3224)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   3  (bases 1 to 3224)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 3224)
  AUTHORS   Zhang,X., Zou,L., Meng,L., Xiong,M., Pan,L., Chen,G., Zheng,Y.,
            Xiong,J., Wang,Z., Duong,D.M., Zhang,Z., Cao,X., Wang,T., Tang,L.,
            Ye,K. and Zhang,Z.
  TITLE     Amphiphysin I cleavage by asparagine endopeptidase leads to tau
            hyperphosphorylation and synaptic dysfunction
  JOURNAL   Elife 10, e65301 (2021)
   PUBMED   34018922
  REMARK    GeneRIF: Amphiphysin I cleavage by asparagine endopeptidase leads
            to tau hyperphosphorylation and synaptic dysfunction.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3224)
  AUTHORS   David,C., McPherson,P.S., Mundigl,O. and de Camilli,P.
  TITLE     A role of amphiphysin in synaptic vesicle endocytosis suggested by
            its binding to dynamin in nerve terminals
  JOURNAL   Proc Natl Acad Sci U S A 93 (1), 331-335 (1996)
   PUBMED   8552632
REFERENCE   6  (bases 1 to 3224)
  AUTHORS   Auffray,C., Behar,G., Bois,F., Bouchier,C., Da Silva,C.,
            Devignes,M.D., Duprat,S., Houlgatte,R., Jumeau,M.N., Lamy,B. et al.
  TITLE     [IMAGE: molecular integration of the analysis of the human genome
            and its expression]
  JOURNAL   C R Acad Sci III 318 (2), 263-272 (1995)
   PUBMED   7757816
REFERENCE   7  (bases 1 to 3224)
  AUTHORS   Yamamoto,R., Li,X., Winter,S., Francke,U. and Kilimann,M.W.
  TITLE     Primary structure of human amphiphysin, the dominant autoantigen of
            paraneoplastic stiff-man syndrome, and mapping of its gene (AMPH)
            to chromosome 7p13-p14
  JOURNAL   Hum Mol Genet 4 (2), 265-268 (1995)
   PUBMED   7757077
REFERENCE   8  (bases 1 to 3224)
  AUTHORS   David,C., Solimena,M. and De Camilli,P.
  TITLE     Autoimmunity in stiff-Man syndrome with breast cancer is targeted
            to the C-terminal region of human amphiphysin, a protein similar to
            the yeast proteins, Rvs167 and Rvs161
  JOURNAL   FEBS Lett 351 (1), 73-79 (1994)
   PUBMED   8076697
REFERENCE   9  (bases 1 to 3224)
  AUTHORS   De Camilli,P., Thomas,A., Cofiell,R., Folli,F., Lichte,B.,
            Piccolo,G., Meinck,H.M., Austoni,M., Fassetta,G., Bottazzo,G.,
            Bates,D., Cartlidge,N., Solimena,M., Kilimann,M.W. et al.
  TITLE     The synaptic vesicle-associated protein amphiphysin is the 128-kD
            autoantigen of Stiff-Man syndrome with breast cancer
  JOURNAL   J Exp Med 178 (6), 2219-2223 (1993)
   PUBMED   8245793
REFERENCE   10 (bases 1 to 3224)
  AUTHORS   Lichte,B., Veh,R.W., Meyer,H.E. and Kilimann,M.W.
  TITLE     Amphiphysin, a novel protein associated with synaptic vesicles
  JOURNAL   EMBO J 11 (7), 2521-2530 (1992)
   PUBMED   1628617
  REMARK    Erratum:[EMBO J 1992 Oct;11(10):3809]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA125756.1, BC034376.1 and
            AC007245.3.
            
            On Nov 23, 2018 this sequence version replaced NM_001635.3.
            
            Summary: This gene encodes a protein associated with the
            cytoplasmic surface of synaptic vesicles. A subset of patients with
            stiff-man syndrome who were also affected by breast cancer are
            positive for autoantibodies against this protein. Alternate
            splicing of this gene results in two transcript variants encoding
            different isoforms. Additional splice variants have been described,
            but their full length sequences have not been determined. A
            pseudogene of this gene is found on chromosome 11.[provided by
            RefSeq, Nov 2010].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            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 :: SRR3476690.274200.1,
                                           SRR1803615.115526.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000356264.7/ ENSP00000348602.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                DA125756.1         195-209
            16-1508             BC034376.1         1-1493
            1509-1509           AC007245.3         43408-43408         c
            1510-3224           BC034376.1         1495-3209
FEATURES             Location/Qualifiers
     source          1..3224
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.1"
     gene            1..3224
                     /gene="AMPH"
                     /gene_synonym="AMPH1"
                     /note="amphiphysin"
                     /db_xref="GeneID:273"
                     /db_xref="HGNC:HGNC:471"
                     /db_xref="MIM:600418"
     exon            1..91
                     /gene="AMPH"
                     /gene_synonym="AMPH1"
                     /inference="alignment:Splign:2.1.0"
     CDS             23..2110
                     /gene="AMPH"
                     /gene_synonym="AMPH1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     amphiphysin (Stiff-Mann syndrome with breast cancer 128kD
                     autoantigen); amphiphysin I"
                     /codon_start=1
                     /product="amphiphysin isoform 1"
                     /protein_id="NP_001626.1"
                     /db_xref="CCDS:CCDS5456.1"
                     /db_xref="GeneID:273"
                     /db_xref="HGNC:HGNC:471"
                     /db_xref="MIM:600418"
                     /translation="MADIKTGIFAKNVQKRLNRAQEKVLQKLGKADETKDEQFEEYVQ
                     NFKRQEAEGTRLQRELRGYLAAIKGMQEASMKLTESLHEVYEPDWYGREDVKMVGEKC
                     DVLWEDFHQKLVDGSLLTLDTYLGQFPDIKNRIAKRSRKLVDYDSARHHLEALQSSKR
                     KDESRISKAEEEFQKAQKVFEEFNVDLQEELPSLWSRRVGFYVNTFKNVSSLEAKFHK
                     EIAVLCHKLYEVMTKLGDQHADKAFTIQGAPSDSGPLRIAKTPSPPEEPSPLPSPTAS
                     PNHTLAPASPAPARPRSPSQTRKGPPVPPLPKVTPTKELQQENIISFFEDNFVPEISV
                     TTPSQNEVPEVKKEETLLDLDFDPFKPEVTPAGSAGVTHSPMSQTLPWDLWTTSTDLV
                     QPASGGSFNGFTQPQDTSLFTMQTDQSMICNLAESEQAPPTEPKAEEPLAAVTPAVGL
                     DLGMDTRAEEPVEEAVIIPGADADAAVGTLVSAAEGAPGEEAEAEKATVPAGEGVSLE
                     EAKIGTETTEGAESAQPEAEELEATVPQEKVIPSVVIEPASNHEEEGENEITIGAEPK
                     ETTEDAAPPGPTSETPELATEQKPIQDPQPTPSAPAMGAADQLASAREASQELPPGFL
                     YKVETLHDFEAANSDELTLQRGDVVLVVPSDSEADQDAGWLVGVKESDWLQYRDLATY
                     KGLFPENFTRRLD"
     exon            92..172
                     /gene="AMPH"
                     /gene_synonym="AMPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            173..227
                     /gene="AMPH"
                     /gene_synonym="AMPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            228..322
                     /gene="AMPH"
                     /gene_synonym="AMPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            323..418
                     /gene="AMPH"
                     /gene_synonym="AMPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            419..526
                     /gene="AMPH"
                     /gene_synonym="AMPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            527..612
                     /gene="AMPH"
                     /gene_synonym="AMPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            613..688
                     /gene="AMPH"
                     /gene_synonym="AMPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            689..771
                     /gene="AMPH"
                     /gene_synonym="AMPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            772..910
                     /gene="AMPH"
                     /gene_synonym="AMPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            911..1039
                     /gene="AMPH"
                     /gene_synonym="AMPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1040..1156
                     /gene="AMPH"
                     /gene_synonym="AMPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1157..1180
                     /gene="AMPH"
                     /gene_synonym="AMPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1181..1204
                     /gene="AMPH"
                     /gene_synonym="AMPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1205..1237
                     /gene="AMPH"
                     /gene_synonym="AMPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1238..1294
                     /gene="AMPH"
                     /gene_synonym="AMPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1295..1420
                     /gene="AMPH"
                     /gene_synonym="AMPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1421..1630
                     /gene="AMPH"
                     /gene_synonym="AMPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1631..1900
                     /gene="AMPH"
                     /gene_synonym="AMPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1901..2002
                     /gene="AMPH"
                     /gene_synonym="AMPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            2003..3224
                     /gene="AMPH"
                     /gene_synonym="AMPH1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3190..3195
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMPH"
                     /gene_synonym="AMPH1"
                     /note="hexamer: AATAAA"
     polyA_site      3224
                     /gene="AMPH"
                     /gene_synonym="AMPH1"
                     /note="major polyA site"
ORIGIN      
        1 gcagctcccc ggacccgcag ccatggccga catcaagacg ggcatcttcg ccaagaacgt
       61 ccagaagcga ctcaaccgcg cgcaggaaaa ggtcctccaa aagctgggga aagctgatga
      121 gacaaaagac gaacagttcg aagaatatgt ccagaacttc aaacggcaag aagcagaggg
      181 taccagactt cagcgagaac tccgaggata tttagcagca atcaaaggca tgcaggaggc
      241 ctccatgaag ctcacagagt cgctgcatga agtctatgag cctgactggt atgggcggga
      301 agatgtgaaa atggttggtg agaaatgtga tgtgctgtgg gaagacttcc atcaaaaact
      361 cgtggatggg tccttgctaa cactggatac ctacctgggg caatttcctg acataaagaa
      421 tcgcatcgcc aagcgcagca ggaagctagt ggactatgac agtgcccgcc accatctgga
      481 agctctgcag agctccaaga ggaaggatga gagtcgaatc tctaaggcag aagaagaatt
      541 tcagaaagca cagaaagtgt ttgaagagtt taacgttgac ttacaagaag agttaccatc
      601 attatggtca agacgagttg gattttatgt taatactttc aaaaacgtct ccagccttga
      661 agccaagttt cataaggaaa ttgcggtgct ttgccacaaa ctgtatgaag tgatgacaaa
      721 actgggtgac cagcacgccg acaaggcctt caccatccaa ggagcgccca gtgattcggg
      781 tcctctccgc attgcaaaga caccatcacc gcctgaggag ccttcacccc tcccgagccc
      841 gacagcaagt ccaaatcata cattagcacc tgcgtctccc gcaccagcac ggcctcggtc
      901 accttcacag acaaggaaag ggcctcctgt cccacctcta cctaaagtca ccccgacaaa
      961 ggaactgcag caggagaaca tcatcagttt ctttgaggac aactttgttc cagaaatcag
     1021 tgtgacaaca ccttcccaga atgaagtccc tgaggtgaag aaagaggaga ctttgctgga
     1081 tctggacttt gatcctttca agcccgaggt gacacctgca ggttctgctg gagtgaccca
     1141 ctcacccatg tctcagacat tgccctggga cctatggacg acaagcactg atttggtaca
     1201 gccggcttct ggtggttcat ttaatggatt cacacagccc caggatactt cattattcac
     1261 aatgcagaca gaccagagta tgatctgcaa cttggctgaa tctgaacagg ctccacccac
     1321 agagccaaaa gcagaggagc ctctggctgc tgtcacacct gccgttggtc tggaccttgg
     1381 aatggacact cgggctgagg agccagtgga ggaggcagtg atcatacctg gagctgatgc
     1441 tgatgcagct gttggaacct tggtgtcagc agctgagggg gccccaggag aggaagcaga
     1501 ggcggagaag gccactgtcc ctgccgggga aggagtaagt ttagaggagg ccaaaattgg
     1561 aactgaaacc actgagggtg cagagagtgc ccaacctgaa gcagaggagc tcgaagcaac
     1621 agtgcctcag gagaaggtca ttccttcggt ggtcatagag cctgcctcca accatgaaga
     1681 ggaaggagaa aacgaaataa ctataggtgc agagcccaag gagaccaccg aggacgcggc
     1741 tcctccgggc cccaccagcg agacaccgga gctggctacg gagcagaagc ctatccagga
     1801 ccctcagccc acgccttctg caccagccat gggggctgct gaccagctag catctgcaag
     1861 ggaggcctct caggaattgc ctcctggctt tctctacaag gtggaaacac tgcatgattt
     1921 tgaggcagca aattctgatg aacttacctt acaaaggggt gatgtggtgc tggtggtccc
     1981 ctcagattca gaagctgatc aggatgcagg ctggctggtg ggagtgaagg aatcagactg
     2041 gcttcagtac agagaccttg ccacctacaa aggcctcttt ccagagaact tcacccgacg
     2101 cttagattag ggcaacaagt actgcaagaa ggagctcagt tacggggttt ttaaaccttc
     2161 atgaaaacct gaagagttca cttttgttat tatgctctta atgatttaca gactgatgcc
     2221 agacaaacct tgggaagatg tatcaatgga gcatgtgtgc aaaaaaatgt aagaggaaaa
     2281 aaagtaaatt aaggaaaaaa tcctcactca ttcccatgtt gtcaataaca ggtttgtttg
     2341 tgctttgtcc aagctgtgga gactcttgta cttgatcccc tcccaccaat tctaaagtag
     2401 ctttctccag atcagacttt aatttctctg catcaggtgt atcgtattga gtggctgccc
     2461 tgcagaagat gtgatgaatt atcctgtagt acaagattat cttattcccc tgcccaggtg
     2521 tgagcacgtg ctctcgctcc ctttcaggtt tactatgttt aaaactaaac tgctgcaaaa
     2581 gttctcaatg ttcttttcca acacatctat atatatatgg acacacagtc acgcaagcta
     2641 gttcccatga ctcctggatc tatgtgtatg cagaaggcta catatacata gttgcttctt
     2701 tcctttccat tgtagctctt tgcctctcaa ttgtcattga tacatgcatt gctcttattc
     2761 tgtctggcat tacaattgca gttttgccta atggcaaaac cagccatccc attggcaaaa
     2821 gagtcaacag tatctgtgtt tgtactgtgc agttttcagg atgagatgac agatagcacg
     2881 actacactga ggcaccctca gagaaggcag ggcctgattt atctagctgt ccagccgctg
     2941 tggctggagg taggctagtt gggatgggca gctaagcagt cttctcttct gcctttatga
     3001 gattgggtag aaagatgggg catattcatc tacccccaaa agaacactat aaaaacagct
     3061 cctctatatt tccacctctt tctatttatg caactcatct tcacagattg ttctaaagta
     3121 aaatagatgg tgtatgctgt atccacaaat catctgtaac aattatgttt tcagtgctgt
     3181 gtcattccaa ataaaccttt ggtaatcttc aacgattacc ctaa
//
