LOCUS HSU70063 2333 bp mRNA linear HUM 20-DEC-1996
DEFINITION Human acid ceramidase mRNA, complete cds.
ACCESSION U70063
VERSION U70063.1
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 2333)
AUTHORS Koch,J., Gartner,S., Li,C.M., Quintern,L.E., Bernardo,K.,
Levran,O., Schnabel,D., Desnick,R.J., Schuchman,E.H. and
Sandhoff,K.
TITLE Molecular cloning and characterization of a full-length
complementary DNA encoding human acid ceramidase. Identification Of
the first molecular lesion causing Farber disease
JOURNAL J. Biol. Chem. 271 (51), 33110-33115 (1996)
PUBMED 8955159
REFERENCE 2 (bases 1 to 2333)
AUTHORS Koch,J., Gaertner,S., Li,C.M., Quintern,L.E., Bernardo,K.,
Levran,O., Desnick,R.J., Schuchman,E.H. and Sandhoff,K.
TITLE Direct Submission
JOURNAL Submitted (10-SEP-1996) Institut fuer organische Chemie und
Biochemie der Universitaet Bonn, Gerhard Gomagk Str. 1, Bonn 53121,
Germany
FEATURES Location/Qualifiers
source 1..2333
/db_xref="H-InvDB:HIT000221092"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="8"
CDS 18..1205
/EC_number="3.5.1.23"
/function="catalyzes the hydrolysis of ceramide into
sphingosine and free fatty acid"
/note="hydrolase"
/codon_start=1
/product="acid ceramidase"
/protein_id="AAC50907.1"
/translation="MPGRSCVALVLLAAAVSCAVAQHAPPWTEDCRKSTYPPSGPTYR
GAVPWYTINLDLPPYKRWHELMLDKAPMLKVIVNSLKNMINTFVPSGKVMQVVDEKLP
GLLGNFPGPFEEEMKGIAAVTDIPLGEIISFNIFYELFTICTSIVAEDKKGHLIHGRN
MDFGVFLGWNINNDTWVITEQLKPLTVNLDFQRNNKTVFKASSFAGYVGMLTGFKPGL
FSLTLNERFSINGGYLGILEWILGKKDAMWIGFLTRTVLENSTSYEEAKNLLTKTKIL
APAYFILGGNQSGEGCVITRDRKESLDVYELDAKQGRWYVVQTNYDRWKHPFFLDDRR
TPAKMCLNRTSQENISFETMYDVLSTKPVLNKLTVYTTLIDVTKGQFETYLRDCPDPC
IGW"
BASE COUNT 704 a 458 c 479 g 692 t
ORIGIN
1 ggcacgaggc tagagcgatg ccgggccgga gttgcgtcgc cttagtcctc ctggctgccg
61 ccgtcagctg tgccgtcgcg cagcacgcgc cgccgtggac agaggactgc agaaaatcaa
121 cctatcctcc ttcaggacca acgtacagag gtgcagttcc atggtacacc ataaatcttg
181 acttaccacc ctacaaaaga tggcatgaat tgatgcttga caaggcacca atgctaaagg
241 ttatagtgaa ttctctgaag aatatgataa atacattcgt gccaagtgga aaagttatgc
301 aggtggtgga tgaaaaattg cctggcctac ttggcaactt tcctggccct tttgaagagg
361 aaatgaaggg tattgccgct gttactgata tacctttagg agagattatt tcattcaata
421 ttttttatga attatttacc atttgtactt caatagtagc agaagacaaa aaaggtcatc
481 taatacatgg gagaaacatg gattttggag tatttcttgg gtggaacata aataatgata
541 cctgggtcat aactgagcaa ctaaaacctt taacagtgaa tttggatttc caaagaaaca
601 acaaaactgt cttcaaggct tcaagctttg ctggctatgt gggcatgtta acaggattca
661 aaccaggact gttcagtctt acactgaatg aacgtttcag tataaatggt ggttatctgg
721 gtattctaga atggattctg ggaaagaaag atgccatgtg gatagggttc ctcactagaa
781 cagttctgga aaatagcaca agttatgaag aagccaagaa tttattgacc aagaccaaga
841 tattggcccc agcctacttt atcctgggag gcaaccagtc tggggaaggt tgtgtgatta
901 cacgagacag aaaggaatca ttggatgtat atgaactcga tgctaagcag ggtagatggt
961 atgtggtaca aacaaattat gaccgttgga aacatccctt cttccttgat gatcgcagaa
1021 cgcctgcaaa gatgtgtctg aaccgcacca gccaagagaa tatctcattt gaaaccatgt
1081 atgatgtcct gtcaacaaaa cctgtcctca acaagctgac cgtatacaca accttgatag
1141 atgttaccaa aggtcaattc gaaacttacc tgcgggactg ccctgaccct tgtataggtt
1201 ggtgagcaca cgtctggcct acagaatgcg gcctctgaga catgaagaca ccatctccat
1261 gtgaccgaac actgcagctg tctgaccttc caaagactaa gactcgcggc aggttctctt
1321 tgagtcaata gcttgtcttc gtccatctgt tgacaaatga cagatctttt tttttttccc
1381 cctatcagtt gatttttctt atttacagat aacttcttta ggggaagtaa aacagtcatc
1441 tagaattcac tgagttttgt ttcactttga catttgggga tctggtgggc agtcgaacca
1501 tggtgaactc cacctccgtg gaataaatgg agattcagcg tgggtgttga atccagcacg
1561 tctgtgtgag taacgggaca gtaaacactc cacattcttc agtttttcac ttctacctac
1621 atatttgtat gtttttctgt ataacagcct tttccttctg gttctaactg ctgttaaaat
1681 taatatatca ttatctttgc tgttattgac agcgatatta ttttattaca tatcattaga
1741 gggatgagac agacattcac ctgtatattt cttttaatgg gcacaaaatg ggcccttgcc
1801 tctaaatagc actttttggg gttcaagaag taatcagtat gcaaagcaat cttttataca
1861 ataattgaag tgttcccttt ttcataatta ctctacttcc cagtaaccct aaggaagttg
1921 ctaacttaaa aaactgcatc ccacgttctg ttaatttagt aaataaacaa gtcaaagact
1981 tgtggaaaat aggaagtgaa cccatatttt aaattctcat aagtagcatt gatgtaataa
2041 acaggttttt agtttgttct tcagattgat agggagtttt aaagaaattt tagtagttac
2101 taaaattatg ttactgtatt tttcagaaat caaactgctt atgaaaagta ctaatagaac
2161 ttgttaacct ttctaacctt cacgattaac tgtgaaatgt acgtcatttg tgcaagaccg
2221 tttgtccact tcattttgta taatcacagt tgtgttcctg acactcaata aacagtcact
2281 ggaaagagtg ccagtcagca gtcatgcacg ctgataaaaa aaaaaaaaaa aaa
//