LOCUS HUMPGKPS 2229 bp DNA linear HUM 27-APR-1993
DEFINITION Human phosphoglycerate kinase autosomal pseudogene.
ACCESSION K03019
VERSION K03019.1
KEYWORDS pseudogene.
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 2229)
AUTHORS Tani,K., Singer-Sam,J., Munns,M. and Yoshida,A.
TITLE Molecular cloning and structure of an autosomal processed gene for
human phosphoglycerate kinase
JOURNAL Gene 35 (1-2), 11-18 (1985)
PUBMED 3839763
COMMENT Original source text: Human fibroblast cell line from a PGK-Matsue
male (GM0743) DNA, clone EMBL-3PGK-M, subclone pBR-M.
Reprint kindly provided by A.Yoshida.
PGK-Matsue is a PGK variant associated with severe enzyme
deficiency, chronic nonspherocytic hemolytic anemia and mental
disorders. The pseudogene reported here is found in both normal
and PGK-Matsue humans on chromosome 6. This processed gene is
thought to be created through RNA intermediates and is flanked by
short direct repeats (positions 25-35 and 2204-2214). This gene is
a non-functional gene for the testes-specific PGK, because it has
no introns, it has direct flanking repeats and there is a
termination codon in phase that truncates the reading frame
upstream of the domain that should encode the
3-phosphoglycerate-binding site.
FEATURES Location/Qualifiers
source 1..2229
/organism="Homo sapiens"
/mol_type="genomic DNA"
/db_xref="taxon:9606"
BASE COUNT 639 a 447 c 539 g 604 t
ORIGIN 17 bp upstream of PstI site; chromosome 6p21-p12.
1 gatcttggct cactgcagag gtttttacat atcaaaatgg ttaagatttg acatgaatga
61 ggtgtatgta ggtttgcggg ggtgggggtg gagttctttt tgttttgttt ttaataataa
121 aagcaactgt taaccgagct gtggggtggg ggcaaaaaga gccagaagcg gcgcacacct
181 caggactatt cttgtttttt tagaaccatt cttattctgg ggtttcttca cctacccaag
241 tctcgcctga agccaggtac agctctattc cactacatga ccctctgccc aggaagttgg
301 aatcttcacc tagcaacaca gttcagatcg agattgacag gaccatgagc caatcacaaa
361 gctagatttg ctttcagtct aacagtggcc gttgtgctgg agagagtagg agaagaaagg
421 ggcgggacaa gggcaaaggc gttagaagtc accaccgacc cagcccctca acagcaagtt
481 ggttcttcag cattaagatc caggtgtcag cctatgtctt attattgtca agatgtctct
541 ttctaagaag ttgactttag acaaactgga tgttagaggg aagcgagtca tcatgagagt
601 agacttcaat gttcccatga agaagaacca gattacaaac aaccagagga tcaaggcttc
661 catcccaagc atcaagtact gcctggacaa tggagccaag gcagtagttc ttatgagtca
721 tctaggtcgg cctgatggtg ttcccatgcc tgacaaatat tccttagcac ctgttgctgt
781 tgagctcaaa tccttgctgg gcaaggatgt tctgttcctg aaggactgtg taggcgcaga
841 agtggagaaa gcctgtgcca acccagctcc tggttcagtc atcctgctgg agaacctgcg
901 ctttcatgtg gaggaagaag ggaagggcca agatccctct ggaaagaaga ttaaagctga
961 gccagataaa atagaagcct tccgagcatc actttccaag ctaggggacg tctatgtcaa
1021 tgatgctttt ggcactgcac accgcgctca tagttccatg gtgggagtga atctgcccca
1081 taaagcatcc ggattcttga tgaagaagga actagattac tttgctaaag ccttggaaaa
1141 cccagtgaga ccctttctgg ctatacttgg tggagccaaa gtggcagaca agatccaact
1201 tatcaaaaat atgctggaca aagtcaatga gatgattatt ggtggtggaa tgcttattac
1261 cttccttaag gtactcaaca acatggagat tggtgcttcc ctgtttgatg aagagggagc
1321 caagatcgtt aaagatatca tggccaaagc acaaaagaat ggtgtaagga ttacttttcc
1381 tgttgatttt gttactgggg acaagtttga cgagaacgct caggttggaa aagccactgt
1441 agcatctggc atatctcctg gctggatggg tttggactgt ggtcctgaga gcaacaagaa
1501 tcatgctcaa gttgtggctc aagcaaggct aattgtttgg aatgggccgt tagagtattt
1561 gaatgggatg cctttgctaa gggaaccaaa gccctcatgg atgaaattgt gaaagccact
1621 tccaagggct gcatcactgt tatagggggt ggagacactg ctacttgctg tgccaaatgg
1681 aacactgaag ataaagtcag ccatgtcagc actggagcgg tgccagtcta gagcttctgg
1741 aaggtaaaat ccttcctgga gtagaggccc tcagcaacat gtagttaata tagtgttact
1801 tccttctgtt ttctgtccat ggcccttaag tcagcttaat gcttttacat ctcgatgtga
1861 cttttgttaa aatctactcc tagatcaaga cctatgtaat ggacaagcag caggccatca
1921 ggaactctta atatcagcac agcaattcat tttagtttgg tcacgcattt gcctgttcaa
1981 gttctcattt gaacttcacc attgtgctat ctagggagga catattctta agttgcctat
2041 taaagaaagt gagctgaaga aactgaatct ttttatttta gtccaacttt gctattgttt
2101 cataatttga aacccaaaag ataaaactta atttgttggg aaagggtgga atgaaagttg
2161 acaaacaaac aataaatatg cccaaataaa ctgagaaaaa taattacata taaagaactc
2221 atgggtacc
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