LOCUS Y15233 2643 bp mRNA linear HUM 07-OCT-2008
DEFINITION Homo sapiens mRNA for liver glycogen phosphorylase.
ACCESSION Y15233
VERSION Y15233.1
KEYWORDS liver glycogen phosphorylase; pygl gene.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1
AUTHORS Burwinkel B., Bakker H.D., Herschkovitz E., Moses S.W., Shin Y.S.,
Kilimann M.W.
TITLE Mutations in the liver glycogen phosphorylase gene (PYGL)
underlying glycogenosis type VI
JOURNAL Am. J. Hum. Genet. 62(4), 785-791(1998).
PUBMED 9529348
REFERENCE 2 (bases 1 to 2643)
AUTHORS Kilimann M.W.
JOURNAL Submitted (23-OCT-1997) to the INSDC. M.W. Kilimann, Institut fuer
Physiologische Chemie, Medizinische Fakultaet, Ruhr-Uni-Bochum,
D-44780 Bochum, FRG
REFERENCE 3
AUTHORS Newgard C.B., Nakano K., Hwang P.K., Fletterick R.J.
TITLE Sequence analysis of the cDNA encoding human liver glycogen
phosphorylase reveals tissue-specific codon usage
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 83(21), 8132-8136(1986).
PUBMED 2877458
COMMENT Related sequence M14636
FEATURES Location/Qualifiers
source 1..2643
/db_xref="H-InvDB:HIT000325889"
/organism="Homo sapiens"
/chromosome="14"
/mol_type="mRNA"
/cell_type="blood cells"
/db_xref="taxon:9606"
CDS 52..2595
/gene="pygl"
/product="liver glycogen phosphorylase"
/EC_number="2.4.1.1"
/db_xref="GOA:P06737"
/db_xref="H-InvDB:HIT000325889.12"
/db_xref="HGNC:HGNC:9725"
/db_xref="InterPro:IPR000811"
/db_xref="InterPro:IPR011833"
/db_xref="InterPro:IPR035090"
/db_xref="PDB:1EM6"
/db_xref="PDB:1EXV"
/db_xref="PDB:1FA9"
/db_xref="PDB:1FC0"
/db_xref="PDB:1L5Q"
/db_xref="PDB:1L5R"
/db_xref="PDB:1L5S"
/db_xref="PDB:1L7X"
/db_xref="PDB:1XOI"
/db_xref="PDB:2ATI"
/db_xref="PDB:2QLL"
/db_xref="PDB:2ZB2"
/db_xref="PDB:3CEH"
/db_xref="PDB:3CEJ"
/db_xref="PDB:3CEM"
/db_xref="PDB:3DD1"
/db_xref="PDB:3DDS"
/db_xref="PDB:3DDW"
/db_xref="UniProtKB/Swiss-Prot:P06737"
/protein_id="CAA75517.1"
/translation="MAKPLTDQEKRRQISIRGIVGVENVAELKKSFNRHLHFTLVKDR
NVATTRDYYFALAHTVRDHLVGRWIRTQQHYYDKCPKRVYYLSLEFYMGRTLQNTMIN
LGLQNACDEAIYQLGLDIEELEEIEEDAGLGNGGLGRLAACFLDSMATLGLAAYGYGI
RYEYGIFNQKIRDGWQVEEADDWLRYGNPWEKSRPEFMLPVHFYGKVEHTNTGTKWID
TQVVLALPYDTPVPGYMNNTVNTMRLWSARAPNDFNLRDFNVGDYIQAVLDRNLAENI
SRVLYPNDNFFEGKELRLKQEYFVVAATLQDIIRRFKASKFGSTRGAGTVFDAFPDQV
AIQLNDTHPALAIPELMRIFVDIEKLPWSKAWELTQKTFAYTNHTVLPEALERWPVDL
VEKLLPRHLEIIYEINQKHLDRIVALFPKDVDRLRRMSLIEEEGSKRINMAHLCIVGS
HAVNGVAKIHSDIVKTKVFKDFSELEPDKFQNKTNGITPRRWLLLCNPGLAELIAEKI
GEDYVKDLSQLTKLHSFLGDDVFLRELAKVKQENKLKFSQFLETEYKVKINPSSMFDV
QVKRIHEYKRQLLNCLHVITMYNRIKKDPKKLFVPRTVIIGGKAAPGYHMAKMIIKLI
TSVADVVNNDPMVGSKLKVIFLENYRVSLAEKVIPATDLSEQISTAGTEASGTGNMKF
MLNGALTIGTMDGANVEMAEEAGEENLFIFGMRIDDVAALDKKGYEAKEYYEALPELK
LVIDQIDNGFFSPKQPDLFKDIINMLFYHDRFKVFADYEAYVKCQDKVSQLYMNPKAW
NTMVLKNIAASGKFSSDRTIKEYAQNIWNVEPSDLKISLSNESNKVNGN"
misc_difference 53..57
/replace="gcgaa"
/note="conflict"
/citation=[3]
misc_difference 60
/replace="g"
/note="conflict"
/citation=[3]
misc_difference 66
/replace="a"
/note="conflict"
/citation=[3]
variation 201
/replace="c"
/citation=[3]
misc_difference 231
/replace="g"
/note="conflict"
/citation=[3]
misc_difference 296
/replace="a"
/note="conflict"
/citation=[3]
variation 712
/replace="g"
/citation=[3]
misc_difference 740
/replace="a"
/note="conflict"
/citation=[3]
misc_difference 1015..1016
/replace="ca"
/note="conflict"
/citation=[3]
variation 1068
/replace="t"
/citation=[3]
misc_difference 1078..1081
/replace="cgca"
/note="conflict"
/citation=[3]
misc_difference 1154
/replace="a"
/note="conflict"
/citation=[3]
misc_difference 1322
/replace="c"
/note="conflict"
/citation=[3]
variation 2064
/replace="c"
/citation=[3]
misc_difference 2193
/replace="c"
/note="conflict"
/citation=[3]
BASE COUNT 747 a 636 c 664 g 596 t
ORIGIN
1 ccgcacttcc agctctctgc gcagcccgcc gcgcagcccg ccgccccagc catggcgaag
61 cccctgacgg accaggagaa gcggcggcag atcagcatcc gcggcatcgt gggcgtggag
121 aacgtggcag agctgaagaa gagtttcaac cggcacctgc acttcacgct ggtcaaggac
181 cgcaacgtgg ccaccacccg cgactactac ttcgcgctgg cgcacacggt gcgcgaccac
241 ctggtggggc gctggatccg cacgcagcag cactactacg acaagtgccc caagagggta
301 tattacctct ctctggaatt ttacatgggc cgaacattac agaacaccat gatcaacctc
361 ggtctgcaaa atgcctgtga tgaggccatt taccagcttg gattggatat agaagagtta
421 gaagaaattg aagaagatgc tggacttggc aatggtggtc ttgggagact tgctgcctgc
481 ttcttggatt ccatggcaac cctgggactt gcagcctatg gatacggcat tcggtatgaa
541 tatgggattt tcaatcagaa gatccgagat ggatggcagg tagaagaagc agatgattgg
601 ctcagatatg gaaacccttg ggagaagtcc cgcccagaat tcatgctgcc tgtgcacttc
661 tatggaaaag tagaacacac caacaccggg accaagtgga ttgacactca agtggtcctg
721 gctctgccat atgacacccc cgtgcccggc tacatgaata acactgtcaa caccatgcgc
781 ctctggtctg ctcgggcacc aaatgacttt aacctcagag actttaatgt tggagactac
841 attcaggctg tgctggaccg aaacctggcc gagaacatct cccgggtcct ctatcccaat
901 gacaattttt ttgaagggaa ggagctaaga ttgaagcagg aatactttgt ggtggctgca
961 accttgcaag atatcatccg ccgtttcaaa gcctccaagt ttggctccac ccgtggtgca
1021 ggaactgtgt ttgatgcctt cccggatcag gtggccatcc agctgaatga tactcaccct
1081 gcactcgcga tccctgagct gatgaggatt tttgtggata ttgaaaaact gccctggtcc
1141 aaggcatggg agctcaccca gaagaccttc gcctacacca accacacagt gctcccggaa
1201 gccctggagc gctggcccgt ggacctggtg gagaagctgc tccctcgaca tttggaaatc
1261 atttatgaga taaatcagaa gcatttagat agaattgtgg ccttgtttcc taaagatgtg
1321 gaccgtctga gaaggatgtc tctgatagaa gaggaaggaa gcaaaaggat caacatggcc
1381 catctctgca ttgtcggttc ccatgctgtg aatggcgtgg ctaaaatcca ctcagacatc
1441 gtgaagacta aagtattcaa ggacttcagt gagctagaac ctgacaagtt tcagaataaa
1501 accaatggga tcactccaag gcgctggctc ctactctgca acccaggact tgcagagctc
1561 atagcagaga aaattggaga agactatgtg aaagacctga gccagctgac gaagctccac
1621 agcttcctgg gtgatgatgt cttcctccgg gaactcgcca aggtgaagca ggagaataag
1681 ctgaagtttt ctcagttcct ggagacggag tacaaagtga agatcaaccc atcctccatg
1741 tttgatgtcc aggtgaagag gatacatgag tacaagcgac agctcttgaa ctgtctgcat
1801 gtgatcacga tgtacaaccg cattaagaaa gaccctaaga agttattcgt gccaaggaca
1861 gttatcattg gtggtaaagc tgccccagga tatcacatgg ccaaaatgat cataaagctg
1921 atcacttcag tggcagatgt ggtgaacaat gaccctatgg ttggaagcaa gttgaaagtc
1981 atcttcttgg agaactacag agtatctctt gctgaaaaag tcattccagc cacagatctg
2041 tcagagcaga tttccactgc aggcaccgaa gcctcgggga caggcaatat gaagttcatg
2101 ctaaatgggg ccctaactat cgggaccatg gatggggcca atgtggaaat ggcagaagaa
2161 gctggggaag agaacctgtt catctttggc atgaggatag atgatgtggc tgctttggac
2221 aagaaagggt acgaggcaaa agaatactat gaggcacttc cagagctgaa gctggtcatt
2281 gatcaaattg acaatggctt tttttctccc aagcagcctg acctcttcaa agatatcatc
2341 aacatgctat tttatcatga caggtttaaa gtctttgcag actacgaagc ctatgtcaag
2401 tgtcaagata aagtgagtca gctgtacatg aatccaaagg cctggaacac aatggtactc
2461 aaaaacatag ctgcctcggg gaaattctcc agtgaccgaa caattaaaga atatgcccaa
2521 aacatctgga acgtggaacc ttcagatcta aagatttctc tatccaatga atctaacaaa
2581 gtcaatggaa attgaactct acaatgtctc tagaaaacat agcttcttac tgaacttgaa
2641 cat
//