LOCUS HSU71285 3917 bp mRNA linear HUM 03-APR-1997
DEFINITION Human 5-methyltetrahydrofolate-homocysteine methyltransferase mRNA,
complete cds.
ACCESSION U71285
VERSION U71285.1
KEYWORDS vitamin B12; cobalamin binding site; methionine synthase.
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 3917)
AUTHORS Leclerc,D., Campeau,E., Goyette,P., Adjalla,C.E., Christensen,B.,
Ross,M., Eydoux,P., Rosenblatt,D.S., Rozen,R. and Gravel,R.A.
TITLE Human methionine synthase: cDNA cloning and identification of
mutations in patients of the cblG complementation group of
folate/cobalamin disorders
JOURNAL Hum. Mol. Genet. 5 (12), 1867-1874 (1996)
PUBMED 8968737
REFERENCE 2 (bases 1 to 3917)
AUTHORS Leclerc,D.
TITLE Direct Submission
JOURNAL Submitted (19-SEP-1996) Human Genetics, McGill University, Montreal
Children's Hospital - Research Institute, Place Toulon, Room 222,
4060 Ste-Catherine West, Montreal H3Z 2Z3, Canada
COMMENT On Apr 3, 1997 this sequence version replaced gi:1731672.
FEATURES Location/Qualifiers
source 1..3917
/db_xref="H-InvDB:HIT000221153"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1q43"
CDS 64..3861
/note="methionine synthase; cobalamin binding protein;
cytosolic protein"
/codon_start=1
/product="5-methyltetrahydrofolate-homocysteine
methyltransferase"
/protein_id="AAC51188.1"
/translation="MSPALQDLSQPEGLKKTLRDEINAILQKRIMVLDGGMGTMIQRE
KLNEEHFRGQEFKDHARPLKGNNDILSITQPDVIYQIHKEYLLAGADIIETNTFSSTS
IAQADYGLEHLAYRMNMCSAGVARKAAEEVTLQTGIKRFVAGALGPTNKTLSVSPSVE
RPDYRNITFDELVEAYQEQAKGLLDGGVDILLIETIFDTANAKAALFALQNLFEEKYA
PRPIFISGTIVDKSGRTLSGQTGEGFVISVSHGEPLCIGLNCALGAAEMRPFIEIIGK
CTTAYVLCYPNAGLPNTFGDYDETPSMMAKHLKDFAMDGLVNIVGGCCGSTPDHIREI
AEAVKNCKPRVPPATAFEGHMLLSGLEPFRIGPYTNFVNIGERCNVAGSRKFAKLIMA
GNYEEALCVAKVQVEMGAQVLDVNMDDGMLDGPSAMTRFCNLIASEPDIAKVPLCIDS
SNFAVIEAGLKCCQGKCIVNSISLKEGEDDFLEKARKIKKYGAAMVVMAFDEEGQATE
TDTKIRVCTRAYHLLVKKLGFNPNDIIFDPNILTIGTGMEEHNLYAINFIHATKVIKE
TLPGARISGGLSNLSFSFRGMEAIREAMHGVFLYHAIKSGMDMGIVNAGNLPVYDDIH
KELLQLCEDLIWNKDPEATEKLLRYAQTQGTGGKKVIQTDEWRNGPVEERLEYALVKG
IEKHIIEDTEEARLNQKKYPRPLNIIEGPLMNGMKIVGDLFGAGKMFLPQVIKSARVM
KKAVGHLIPFMEKEREETRVLNGTVEEEDPYQGTIVLATVKGDVHDIGKNIVGVVLGC
NNFRVIDLGVMTPCDKILKAALDHKADIIGLSGLITPSLDEMIFVAKEMERLAIRIPL
LIGGATTSKTHTAVKIAPRYSAPVIHVLDASKSVVVCSQLLDENLKDEYFEEIMEEYE
DIRQDHYESLKERRYLPLSQARKSGFQMDWLSEPHPVKPTFIGTQVFEDYDLQKLVDY
IDWKPFFDVWQLRGKYPNRGFPKIFNDKTVGGEARKVYDDAHNMLNTLISQKKLRARG
VVGFWPAQSIQDDIHLYAEAAVPQAAEPIATFYGLRQQAEKDSASTEPYYCLSDFIAP
LHSGIRDYLGLFAVACFGVEELSKAYEDDGDDYSSIMVKALGDRLAEAFAEELHERVR
RELWAYCGSEQLDVADLRRLRYKGIRPAPGYPSQPDHTEKLTMWRLADIEQSTGIRLT
ESLAMAPASAVSGLYFSNLKSKYFAVGKISKDQVEDYALRKNISVAEVEKWLGPILGY
DTD"
misc_feature 777..876
/note="encodes B12 binding region"
variation 2703..2705
/note="deletion of isoleucine (I881) in cblG patient"
/replace=""
variation 2819
/note="D919G polymorphism site; creates conversion of
aspartic acid to glycine"
/replace="g"
variation 2821
/note="mutation H920D in cblG patient; creates conversion
of histidine to aspartic acid"
/replace="g"
BASE COUNT 1107 a 840 c 1006 g 964 t
ORIGIN
1 cgtcacctgt ggagagcacg tcttctctgc cgcgccctct gcgcaaggag gagactcgac
61 aacatgtcac ccgcgctcca agacctgtcg caacccgaag gtctgaagaa aaccctgcgg
121 gatgagatca atgccattct gcagaagagg attatggtgc tggatggagg gatggggacc
181 atgatccagc gggagaagct aaacgaagaa cacttccgag gtcaggaatt taaagatcat
241 gccaggccgc tgaaaggcaa caatgacatt ttaagtataa ctcagcctga tgtcatttac
301 caaatccata aggaatactt gctggctggg gcagatatca ttgaaacaaa tacttttagc
361 agcactagta ttgcccaagc tgactatggc cttgaacact tggcctaccg gatgaacatg
421 tgctctgcag gagtggccag aaaagctgcc gaggaggtaa ctctccagac aggaattaag
481 aggtttgtgg caggggctct gggtccgact aataagacac tctctgtgtc cccatctgtg
541 gaaaggccgg attataggaa catcacattt gatgagcttg ttgaagcata ccaagagcag
601 gccaaaggac ttctggatgg cggggttgat atcttactca ttgaaactat ttttgatact
661 gccaatgcca aggcagcctt gtttgcactc caaaatcttt ttgaggagaa atatgctccc
721 cggcctatct ttatttcagg gacgatcgtt gataaaagtg ggcggactct ttccggacag
781 acaggagagg gatttgtcat cagcgtgtct catggagaac cactctgcat tggattaaat
841 tgtgctttgg gtgcagctga gatgagacct tttattgaaa taattggaaa atgtacaaca
901 gcctatgtcc tctgttatcc caatgcaggt cttcccaaca cctttggtga ctatgatgaa
961 acgccttcta tgatggccaa gcacctaaag gattttgcta tggatggctt ggtcaatata
1021 gttggaggat gctgtgggtc aacaccagat catatcaggg aaattgctga agctgtgaaa
1081 aattgtaagc ctagagttcc acctgccact gcttttgaag gacatatgtt actgtctggt
1141 ctagagccct tcaggattgg accgtacacc aactttgtta acattggaga gcgctgtaat
1201 gttgcaggat caaggaagtt tgctaaactc atcatggcag gaaactatga agaagccttg
1261 tgtgttgcca aagtgcaggt ggaaatggga gcccaggtgt tggatgtcaa catggatgat
1321 ggcatgctag atggtccaag tgcaatgacc agattttgca acttaattgc ttccgagcca
1381 gacatcgcaa aggtaccttt gtgcatcgac tcctccaatt ttgctgtgat tgaagctggg
1441 ttaaagtgct gccaagggaa gtgcattgtc aatagcatta gtctgaagga aggagaggac
1501 gacttcttgg agaaggccag gaagattaaa aagtatggag ctgctatggt ggtcatggct
1561 tttgatgaag aaggacaggc aacagaaaca gacacaaaaa tcagagtgtg cacccgggcc
1621 taccatctgc ttgtgaaaaa actgggcttt aatccaaatg acattatttt tgaccctaat
1681 atcctaacca ttgggactgg aatggaggaa cacaacttgt atgccattaa ttttatccat
1741 gcaacaaaag tcattaaaga aacattacct ggagccagaa taagtggagg tctttccaac
1801 ttgtccttct ccttccgagg aatggaagcc attcgagaag caatgcatgg ggttttcctt
1861 taccatgcaa tcaagtctgg catggacatg gggatagtga atgctggaaa cctccctgtg
1921 tatgatgata tccataagga acttctgcag ctctgtgaag atctcatctg gaataaagac
1981 cctgaggcca ctgagaagct cttacgttat gcccagactc aaggcacagg agggaagaaa
2041 gtcattcaga ctgatgagtg gagaaatggc cctgtcgaag aacgccttga gtatgccctt
2101 gtgaagggca ttgaaaaaca tattattgag gatactgagg aagccaggtt aaaccaaaaa
2161 aaatatcccc gacctctcaa tataattgaa ggacccctga tgaatggaat gaaaattgtt
2221 ggtgatcttt ttggagctgg aaaaatgttt ctacctcagg ttataaagtc agcccgggtt
2281 atgaagaagg ctgttggcca ccttatccct ttcatggaaa aagaaagaga agaaaccaga
2341 gtgcttaacg gcacagtaga agaagaggac ccttaccagg gcaccatcgt gctggccact
2401 gttaaaggcg acgtgcacga cataggcaag aacatagttg gagtagtcct tggctgcaat
2461 aatttccgag ttattgattt aggagtcatg actccatgtg ataagatact gaaagctgct
2521 cttgaccaca aagcagatat aattggcctg tcaggactca tcactccttc cctggatgaa
2581 atgatttttg ttgccaagga aatggagaga ttagctataa ggattccatt gttgattgga
2641 ggagcaacca cttcaaaaac ccacacagca gttaaaatag ctccgagata cagtgcacct
2701 gtaatccatg tcctggacgc gtccaagagt gtggtggtgt gttcccagct gttagatgaa
2761 aatctaaagg atgaatactt tgaggaaatc atggaagaat atgaagatat tagacaggac
2821 cattatgagt ctctcaagga gaggagatac ttacccttaa gtcaagccag aaaaagtggt
2881 ttccaaatgg attggctgtc tgaacctcac ccagtgaagc ccacgtttat tgggacccag
2941 gtctttgaag actatgacct gcagaagctg gtggactaca ttgactggaa gcctttcttt
3001 gatgtctggc agctccgggg caagtacccg aatcgaggct tccccaagat atttaacgac
3061 aaaacagtag gtggagaggc caggaaggtc tacgatgatg cccacaatat gctgaacaca
3121 ctgattagtc aaaagaaact ccgggcccgg ggtgtggttg ggttctggcc agcacagagt
3181 atccaagacg acattcacct gtacgcagag gctgctgtgc cccaggctgc agagcccata
3241 gccactttct atgggttaag gcaacaggct gagaaggact ctgccagcac ggagccatac
3301 tactgcctct cagacttcat cgctcccttg cattctggca tccgtgacta cctgggcctg
3361 tttgccgttg cctgctttgg ggtagaagag ctgagcaagg cctatgagga tgatggtgac
3421 gactacagca gcatcatggt caaggcgctg ggggaccggc tggcagaggc ctttgcagaa
3481 gagctccatg aaagagttcg ccgagaactg tgggcctact gtggcagtga gcagctggac
3541 gtcgcagacc tgcgaaggtt gcggtacaag ggcatccgcc cggctcctgg ctaccccagc
3601 cagcccgacc acaccgagaa gctcaccatg tggagactcg cagacatcga gcagtctaca
3661 ggcattaggt taacagaatc attagcaatg gcacctgctt cagcagtctc aggcctctac
3721 ttctccaatt tgaagtccaa atattttgct gtggggaaga tttccaagga tcaggttgag
3781 gattatgcat tgaggaagaa catatctgtg gctgaggttg agaaatggct tggacccatt
3841 ttgggatatg atacagacta actttttttt tttttgcctt ttttattctt gatgatcctc
3901 aaggaaatac aacctag
//