LOCUS D86227 1520 bp mRNA linear HUM 28-MAY-1999
DEFINITION Homo sapiens clone TA-UMPS/poly mRNA for UMP synthase, complete
cds.
ACCESSION D86227
VERSION D86227.1
KEYWORDS orotate phosphoribosyltransferase; orotidine-5'-phosphate
decarboxylase.
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 1520)
AUTHORS Suchi,M.
TITLE Direct Submission
JOURNAL Submitted (24-JUN-1996) to the DDBJ/EMBL/GenBank databases.
Contact:Mariko Suchi
Nagoya City University Medical School, Pediatrics; 1 Kawasumi,
Mizuho-cho, Mizuho-ku, Nagoya, Aichi 467, Japan
REFERENCE 2
AUTHORS Suchi,M., Mizuno,H., Kawai,Y., Tsuboi,T., Sumi,S., Okajima,K.,
Hodgson,M.E., Ogawa,H. and Wada,Y.
TITLE Molecular cloning of the human UMP synthase gene and
characterization of point mutations in two hereditary orotic
aciduria families
JOURNAL Am. J. Hum. Genet. 60, 525-539 (1997)
COMMENT
FEATURES Location/Qualifiers
source 1..1520
/clone="TA-UMPS/poly"
/db_xref="H-InvDB:HIT000101916"
/db_xref="taxon:9606"
/mol_type="mRNA"
/organism="Homo sapiens"
CDS 20..1462
/EC_number="2.4.2.10"
/EC_number="4.1.1.23"
/function="orotate phosphoribosyltransferase (EC
2.4.2.10) and orotidine-5'-phosphate decarboxylase (EC
4.1.1.23)"
/gene="UMPS"
/note="bifunctional enzyme"
/product="UMP synthase"
/protein_id="BAA19920.1"
/translation="MAVARAALGPLVTGLYDVQAFKFGDFVLKSGLSSPIYIDLRGIV
SRPRLLSQVADILFQTAQNAGISFDTVCGVPYTALPLATVICSTNQIPMLIRRKETKD
YGTKRLVEGTINPGETCLIIEDVVTSGSSVLETVEVLQKEGLKVTDAIVLLDREQGGK
DKLQAHGIRLHSVCTLSKMLEILEQQKKVDAETVGRVKRFIQENVFVAANHNASPLSI
KEAPKELSFGARAELPRIHPVASKLLRLMQKKETNLCLSADVSLARELLQLADALGPS
ICMLKTHVDILNDFTLDVMKELITLAKCHEFLIFEDRKFADIGNTVKKQYEGGIFKIA
SWADLVNAHVVPGSGVVKGLQEVGLPLHRGCLLIAEMSSTGSLATGDYTRAAVRMAEE
HSEFVVGFISGSRVSMKPEFLHLTPGVQLEAGGDNLGQQYNSPQEVIGKRGSDIIIVG
RGIISAADRLEAAEMYRKAAWEAYLSRLGV"
variation 657
/frequency="0.26"
/note="G to C transversion substitutes alanine for
glycine at codon 213 (UMPS/G213A polymorphism)."
/replace="g"
variation 1339
/frequency="0.27"
/note="C to T transition encodes a silent polymorphism at
codon 440 (UMPS/G440G polymorphism)."
/replace="c"
BASE COUNT 404 a 304 c 411 g 401 t
ORIGIN
1 aaacaggcag cgcgcgacaa tggcggtcgc tcgtgcagct ttggggccat tggtgacggg
61 tctgtacgac gtgcaggctt tcaagtttgg ggacttcgtg ctgaagagcg ggctttcctc
121 ccccatctac atcgatctgc ggggcatcgt gtctcgaccg cgtcttctga gtcaggttgc
181 agatatttta ttccaaactg cccaaaatgc aggcatcagt tttgacaccg tgtgtggagt
241 gccttataca gctttgccat tggctacagt tatctgttca accaatcaaa ttccaatgct
301 tattagaagg aaagaaacaa aggattatgg aactaagcgt cttgtagaag gaactattaa
361 tccaggagaa acctgtttaa tcattgaaga tgttgtcacc agtggatcta gtgttttgga
421 aactgttgag gttcttcaga aggagggctt gaaggtcact gatgccatag tgctgttgga
481 cagagagcag ggaggcaagg acaagttgca ggcgcacggg atccgcctcc actcagtgtg
541 tacattgtcc aaaatgctgg agattctcga gcagcagaaa aaagttgatg ctgagacagt
601 tgggagagtg aagaggttta ttcaggagaa tgtctttgtg gcagcgaatc ataatgcttc
661 tcccctttct ataaaggaag cacccaaaga actcagcttc ggtgcacgtg cagagctgcc
721 caggatccac ccagttgcat cgaagcttct caggcttatg caaaagaagg agaccaatct
781 gtgtctatct gctgatgttt cactggccag agagctgttg cagctagcag atgctttagg
841 acctagtatc tgcatgctga agactcatgt agatattttg aatgatttta ctctggatgt
901 gatgaaggag ttgataactc tggcaaaatg ccatgagttc ttgatatttg aagaccggaa
961 gtttgcagat ataggaaaca cagtgaaaaa gcagtatgaa ggaggtatct ttaaaatagc
1021 ttcctgggca gatctagtaa atgctcacgt ggtgccaggc tcaggagttg tgaaaggcct
1081 gcaagaagtg ggcctgcctt tgcatcgggg gtgcctcctt attgcggaaa tgagctccac
1141 cggctccctg gccactgggg actacactag agcagcggtt agaatggctg aggagcactc
1201 tgaatttgtt gttggtttta tttctggctc ccgagtaagc atgaaaccag aatttcttca
1261 cttgactcca ggagttcagt tggaagcagg aggagataat cttggccaac agtacaatag
1321 cccacaagaa gttattggta aacgaggttc cgatatcatc attgtaggtc gtggcataat
1381 ctcagcagct gatcgtctgg aagcagcaga gatgtacaga aaagctgctt gggaagcgta
1441 tttgagtaga cttggtgttt gagtgcttca gatacatttt tcagatacaa tgtgaagaca
1501 ttgaagatat gtggtcctcc
//