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 //