LOCUS HUMFAH 1447 bp mRNA linear HUM 08-NOV-1994
DEFINITION Human fumarylacetoacetate hydrolase mRNA, complete cds.
ACCESSION M55150
VERSION M55150.1
KEYWORDS fumarylacetoacetate hydrolase.
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 1447)
AUTHORS Phaneuf,D., Labelle,Y., Berube,D., Arden,K., Cavenee,W., Gagne,R.
and Tanguay,R.M.
TITLE Cloning and expression of the cDNA encoding human
fumarylacetoacetate hydrolase, the enzyme deficient in hereditary
tyrosinemia: assignment of the gene to chromosome 15
JOURNAL Am. J. Hum. Genet. 48 (3), 525-535 (1991)
PUBMED 1998338
COMMENT Original source text: Human, cDNA to mRNA.
FEATURES Location/Qualifiers
source 1..1447
/db_xref="H-InvDB:HIT000195769"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/map="15q23-q25"
/tissue_type="liver"
gene 1..1447
/gene="FAH"
mRNA <1..1447
/gene="FAH"
/product="fumarylacetoacetate hydrolase"
/note="G00-119-901"
CDS 57..1316
/gene="FAH"
/EC_number="3.7.1.2"
/codon_start=1
/product="fumarylacetoacetate hydrolase"
/protein_id="AAA52422.1"
/db_xref="GDB:G00-119-901"
/translation="MSFIPVAEDSDFPIHNLPYGVFSTRGDPRPRIGVAIGDQILDLS
IIKHLFTGPVLSKHQDVFNQPTLNSFMGLGQAAWKEARVFLQNLLSVSQARLRDDTEL
RKCAFISQASATMHLPATIGDYTDFYSSRQHATNVGIMFRDKENALMPNWLHLPVGYH
GRASSVVVSGTPIRRPMGQMKPDDSKPPVYGACKLLDMELEMAFFVGPGNRLGEPIPI
SKAHEHIFGMVLMNDWSARDIQKWEYVPLGPFLGKSFGTTVSPWVVPMDALMPFAVPN
PKQDPRPLPYLCHDEPYTFDINLSVNLKGEGMSQAATICKSNFKYMYWTMLQQLTHHS
VNGCNLRPGDLLASGTISGPEPENFGSMLELSWKGTKPIDLGNGQTRKFLLDGDEVII
TGYCQGDGYRIGFGQCAGKVLPALLPS"
variation 1408
/gene="FAH"
/note="G00-119-901"
variation 1441..1447
/gene="FAH"
/note="G00-119-901"
BASE COUNT 312 a 423 c 385 g 327 t
ORIGIN
1 agtcctgctc tccgcacgcc accttaggcc cgcagccgtg ccgggtgctc ttcagcatgt
61 ccttcatccc ggtggccgag gattccgact tccccatcca caacctgccc tacggcgtct
121 tctcgaccag aggcgaccca agaccgagga taggtgtggc cattggcgac cagatcctgg
181 acctcagcat catcaagcac ctctttactg gtcctgtcct ctccaaacac caggatgtct
241 tcaatcagcc tacactcaac agcttcatgg gcctgggtca ggctgcctgg aaggaggcga
301 gagtgttctt gcagaacttg ctgtctgtga gccaagccag gctcagagat gacaccgaac
361 ttcggaagtg tgcattcatc tcccaggctt ctgccacgat gcaccttcca gccaccatag
421 gagactacac agacttctat tcctctcggc agcatgctac caacgtcgga atcatgttca
481 gggacaagga gaatgcgttg atgccaaatt ggctgcactt accagtgggc taccatggcc
541 gtgcctcctc tgtcgtggtg tctggcaccc caatccgaag gcccatggga cagatgaaac
601 ctgatgactc taagcctccc gtatatggtg cctgcaagct cttggacatg gagctggaaa
661 tggctttttt tgtaggccct ggaaacagat tgggagagcc gatccccatt tccaaggccc
721 atgagcacat ttttggaatg gtccttatga acgactggag tgcacgagac attcagaagt
781 gggagtatgt ccctctcggg ccattccttg ggaagagttt tgggaccact gtctctccgt
841 gggtggtgcc catggatgct ctcatgccct ttgctgtgcc caacccgaag caggacccca
901 ggcccctgcc gtatctgtgc catgacgagc cctacacatt tgacatcaac ctctctgtta
961 acctgaaagg agaaggaatg agccaggcgg ctaccatatg caagtccaat tttaagtaca
1021 tgtactggac gatgctgcag cagctcactc accactctgt caacggctgc aacctgcggc
1081 cgggggacct cctggcttct gggaccatca gcgggccgga gccagaaaac ttcggctcca
1141 tgttggaact gtcgtggaag ggaacgaagc ccatagacct ggggaatggt cagaccagga
1201 agtttctgct ggacggggat gaagtcatca taacagggta ctgccagggg gatggttacc
1261 gcatcggctt tggccagtgt gctggaaaag tgctgcctgc tctcctgcca tcatgagatt
1321 ttctctgctc ttctggaaac aaagggctca agcacccctt tcaaccctgt gactggggtc
1381 ctccctcggg ctgtaggcct ggtccgccat tcagtgacaa ataaagccat tgtgctctga
1441 ggcctgc
//