LOCUS AF023462 1545 bp mRNA linear HUM 18-SEP-2001
DEFINITION Homo sapiens peroxisomal phytanoyl-CoA alpha-hydroxylase (PAHX)
mRNA, complete cds.
ACCESSION AF023462
VERSION AF023462.1
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 1545)
AUTHORS Mihalik,S.J., Morrell,J.C., Kim,D., Sacksteder,K.A., Watkins,P.A.
and Gould,S.J.
TITLE Identification of PAHX, a Refsum disease gene
JOURNAL Nat. Genet. 17 (2), 185-189 (1997)
PUBMED 9326939
REFERENCE 2 (bases 1 to 1545)
AUTHORS Gould,S.J.
TITLE Direct Submission
JOURNAL Submitted (08-SEP-1997) Biological Chemistry, The Johns Hopkins
University School of Medicine, 725 North Wolfe Street, Baltimore,
MD 21205, USA
FEATURES Location/Qualifiers
source 1..1545
/db_xref="H-InvDB:HIT000062713"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="10"
/map="between D10S226 and D10S223"
gene 1..1545
/gene="PAHX"
/note="Refsum disease gene"
CDS 28..1044
/gene="PAHX"
/note="PTS2-targeted peroxisomal matrix protein"
/codon_start=1
/product="peroxisomal phytanoyl-CoA alpha-hydroxylase"
/protein_id="AAB81834.1"
/translation="MEQLRAAARLQIVLGHLGRPSAGAVVAHPTSGTISSASFHPQQF
QYTLDNNVLTLEQRKFYEENGFLVIKNLVPDADIQRFRNEFEKICRKEVKPLGLTVMR
DVTISKSEYAPSEKMITKVQDFQEDKELFRYCTLPEILKYVECFTGPNIMAMHTMLIN
KPPDSGKKTSRHPLHQDLHYFPFRPSDLIVCAWTAMEHISRNNGCLVVLPGTHKGSLK
PHDYPKWEGGVNKMFHGIQDYEENKARVHLVMEKGDTVFFHPLLIHGSGQNKTQGFRK
AISCHFASADCHYIDVKGTSQENIEKEVVGIAHKFFGAENSVNLKDIWMFRARLVKGE
RTNL"
BASE COUNT 455 a 341 c 351 g 398 t
ORIGIN
1 ggggtggggg ttccccgcgc cgcagccatg gagcagcttc gcgccgccgc ccgtctgcag
61 attgttctgg gccacctcgg ccgcccctcg gccggggctg tcgtagctca tcccacttca
121 gggactattt cctctgccag tttccatcct caacaattcc agtatactct ggataataat
181 gttctaaccc tggaacagag aaaattttat gaagaaaatg ggtttctagt aatcaaaaat
241 cttgtacctg atgccgatat tcaacgcttt cggaatgagt ttgaaaaaat ctgcagaaag
301 gaggtgaaac cattaggatt aacagtaatg agagatgtga ccatttcgaa atccgaatat
361 gctccaagtg agaagatgat cacgaaggtc caggatttcc aggaagataa ggagctcttc
421 agatactgca ctctccccga gattctgaaa tatgtggagt gcttcactgg acctaatatt
481 atggccatgc acacaatgtt gataaacaaa cctccagatt ctggcaagaa gacgtcccgt
541 caccccctgc accaggacct gcactatttc cccttcaggc ccagcgatct catcgtttgc
601 gcctggacgg cgatggagca catcagccgg aacaacggct gtctggttgt gctcccaggc
661 acgcacaagg gctccctgaa gccccacgat taccccaagt gggagggggg agttaacaaa
721 atgttccacg ggatccagga ctacgaggaa aacaaggccc gggtgcacct ggtgatggag
781 aagggcgaca ctgttttctt ccatcctttg ctcatccacg gatctggtca gaataaaacc
841 cagggattcc ggaaggcaat ttcctgccat ttcgccagtg ccgattgcca ctacattgac
901 gtgaagggca ccagtcaaga aaacatcgag aaggaagttg taggaatagc acataaattc
961 tttggagctg aaaatagcgt gaacttgaag gatatttgga tgtttcgagc tcgacttgtg
1021 aaaggagaaa gaaccaatct ttgaaatagc catctgctat aactctttca acagaaaacc
1081 aaaaccaaac gaaatgtcta aggaaaatgt tttcttaatg agatgatgta accttttcta
1141 tcacttgtta aaagcagaaa acatgtatca ggtacttaat tgcatagagt tagttttgca
1201 gcacaatggt gttgctttaa tggaaaaaaa aaacagtaaa agtgaaatat tactgtttta
1261 aggaaaacta atttagggtg gcagccaata aaggtggttg gtgtctaatt taagtgttaa
1321 atcaatttct ttcattcagt tagctcttta cccaagaaga agtgaatgat ttggagctta
1381 gggtatgttt tgtatcccct ttctgataaa cccattccct accaatttta tgtcataaga
1441 gatttttttc ccccaaatct agaacaatgt ataatacatt cacatctagt caagggcata
1501 ggaacggtgt catggagtcc aaataaagtg gatattcctg ctcgg
//