LOCUS       HUMPERAF1A              1630 bp    mRNA    linear   HUM 07-APR-1998
DEFINITION  Homo sapiens peroxisome assembly factor-1 (PAF-1) mRNA, complete
            cds.
ACCESSION   M86852
VERSION     M86852.1
KEYWORDS    .
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 1630)
  AUTHORS   Shimozawa,N., Tsukamoto,T., Suzuki,Y., Orii,T., Shirayoshi,Y.,
            Mori,T. and Fujiki,Y.
  TITLE     A human gene responsible for Zellweger syndrome that affects
            peroxisome assembly
  JOURNAL   Science 255 (5048), 1132-1134 (1992)
   PUBMED   1546315
REFERENCE   2  (bases 1 to 1630)
  AUTHORS   Shimozawa,N., Suzuki,Y., Tomatsu,S., Nakamura,H., Kono,T.,
            Takada,H., Tsukamoto,T., Fujiki,Y., Orii,T. and Kondo,N.
  TITLE     A novel mutation, R125X in peroxisome assembly factor-1 responsible
            for Zellweger syndrome
  JOURNAL   Hum. Mutat. (SUPPL 1), S134-S136 (1998)
   PUBMED   9452066
REFERENCE   3  (bases 1 to 1630)
  AUTHORS   Shimozawa,N.
  TITLE     Direct Submission
  JOURNAL   Submitted (12-DEC-1992) Department of Pediatrics, Gifu University
            School of Medicine, 40 Tsukasa-machi, Gifu 500, Japan
FEATURES             Location/Qualifiers
     source          1..1630
                     /db_xref="H-InvDB:HIT000196650"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
     gene            1..1630
                     /gene="PAF-1"
     CDS             374..1291
                     /gene="PAF-1"
                     /codon_start=1
                     /product="peroxisome assembly factor-1"
                     /protein_id="AAC12785.1"
                     /translation="MASRKENAKSANRVLRISQLDALELNKALEQLVWSQFTQCFHGF
                     KPGLLARFEPEVKACLWVFLWRFTIYSKNATVGQSVLNIKYKNDFSPNLRYQPPSKNQ
                     KIWYAVCTIGGRWLEERCYDLFRNHHLASFGKVKQCVNFVIGLLKLGGLINFLIFLQR
                     GKFATLTERLLGIHSVFCKPQNIREVGFEYMNRELLWHGFAEFLIFLLPLINVQKLKA
                     KLSSWCIPLTGAPNSDNTLATSGKECALCGEWPTMPHTIGCEHIFCYFCAKSSFLFDV
                     YFTCPKCGTEVHSLQPLKSGIEMSEVNAL"
     variation       536
                     /gene="PAF-1"
                     /phenotype="infantile Refsum disease"
                     /replace="a"
     variation       728
                     /gene="PAF-1"
                     /phenotype="Zellweger syndrome"
                     /replace="t"
     variation       746
                     /gene="PAF-1"
                     /phenotype="Zellweger syndrome"
                     /replace="t"
     regulatory      1609..1614
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAF-1"
                     /note="this polyA_signal is atypical"
BASE COUNT          457 a          315 c          355 g          503 t
ORIGIN      
        1 ccatccagtg ccttccgcag cgccgctaaa gcgcagttct cgttggtgta actttttctt
       61 ttttttttca gccacttccg gctcctgcgt cgctccggaa gcctgcgagt tccggaagcc
      121 ttggtaatcc agattcggct aggaaaagac aagctttcca gagaatgttt cagagaaagt
      181 tacgtggagc gtgggcgttt cgcagactcc taagtggtct ggaacctaac ctgcagtgtc
      241 tctgagcttc tggcaagtat gaggcaagga tttcacagaa gaacttggag caaaaattcc
      301 cactgtcata gctataggct gtccagtctt gagggagctg caggaacagg aaaaagagac
      361 cttcagagaa gacatggctt ccagaaaaga gaatgcgaag agtgcaaaca gagtgctaag
      421 aataagccag ttggatgcac ttgaactaaa caaggccctg gagcagctag tttggtccca
      481 gtttactcag tgctttcatg gatttaaacc tgggctgtta gctcgctttg agccagaggt
      541 gaaagcgtgc ttatgggttt tcttgtggag attcaccatc tactccaaaa atgccacagt
      601 gggacagtca gttttgaata ttaagtacaa aaatgatttt tcccctaacc tgagatatca
      661 gccacccagt aaaaatcaaa aaatctggta tgctgtttgt acaattggtg gcaggtggtt
      721 agaagaacga tgctatgatt tgtttcgaaa ccatcattta gcatcatttg ggaaagtcaa
      781 gcagtgtgtg aattttgtga ttggactttt gaaattaggt gggctgatta attttttgat
      841 tttccttcag aggggaaagt ttgcaacttt gacagaacgt ctcctaggta ttcattctgt
      901 attttgcaag cctcaaaaca tacgtgaagt tggctttgaa tacatgaata gggaacttct
      961 ctggcatggt tttgctgaat ttctgatttt tctcttacca cttatcaatg tccagaagtt
     1021 gaaagccaag ctgtcttcat ggtgtattcc tcttactggt gcacctaata gtgacaatac
     1081 attagccacc agtggcaaag aatgcgctct atgtggagag tggcccacca tgcctcacac
     1141 cataggatgt gagcatattt tctgttattt ctgtgctaag agtagtttct tatttgacgt
     1201 gtactttact tgtcctaagt gtggcacaga agtacacagt ctgcagccac tgaaatcagg
     1261 aatcgagatg tcagaagtaa atgctcttta gaaactaaaa ttgcttcctt tgaggaaaaa
     1321 aatgcaccgt gtttaaattc ttaatattag tcatcctaag tataccattt atgtatcctt
     1381 tataaggaat gtgctcctag ccactgtctt ctcctttcca ggcatgactg aaatctaatc
     1441 actggaaacc atgtgattct aaatatatta tgtaaatgtt aatgtattat gttttttaaa
     1501 tcattgcatt caatttttaa tgtcaagaat aatggacagc ttttgtcagg tgactactaa
     1561 caatgctcct tcattttact acttcttaaa acaaggttgg attctaaaga taaagatttt
     1621 ggagactctg
//