LOCUS X92762 1883 bp mRNA linear HUM 07-OCT-2008
DEFINITION H.sapiens mRNA for tafazzins protein.
ACCESSION X92762
VERSION X92762.1
KEYWORDS G4.5 gene; tafazzins.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1
AUTHORS Bione S., D'Adamo P., Maestrini E., Gedeon A.K., Bolhuis P.A.,
Toniolo D.
TITLE A novel X-linked gene, G4.5. is responsible for Barth syndrome
JOURNAL Nat Genet 12(4), 385-389(1996).
PUBMED 8630491
REFERENCE 2 (bases 1 to 1883)
AUTHORS Toniolo D.
JOURNAL Submitted (03-NOV-1995) to the INSDC. D. Toniolo, Instituto di
Genetica Biochimica ed, Evoluzionistica CNR, Via Abbiategrasso 207,
27100 Pavia, ITALY
FEATURES Location/Qualifiers
source 1..1883
/db_xref="H-InvDB:HIT000324567"
/organism="Homo sapiens"
/chromosome="X"
/map="q28"
/mol_type="mRNA"
/db_xref="taxon:9606"
CDS 289..1167
/gene="G4.5"
/product="tafazzins"
/note="responsible for Barth syndrome"
/db_xref="GOA:Q16635"
/db_xref="H-InvDB:HIT000324567.15"
/db_xref="HGNC:HGNC:11577"
/db_xref="InterPro:IPR000872"
/db_xref="InterPro:IPR002123"
/db_xref="UniProtKB/Swiss-Prot:Q16635"
/protein_id="CAA63418.1"
/translation="MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTKYMNHLTV
HNREVLYELIEKRGPATPLITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADI
CFTKELHSHFFSLGKCVPVCRGAEFFQAENEGKGVLDTGRHMPGAGKRREKGDGVYQK
GMDFILEKLNHGDWVHIFPEGKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMN
DVLPNSPPYFPRFGQKITVLIGKPFSALPVLERLRAENKSAVEMRKALTDFIQEEFQH
LKTQAEQLHNHLQPGR"
regulatory 1860..1864
/regulatory_class="polyA_signal_sequence"
BASE COUNT 365 a 584 c 555 g 379 t
ORIGIN
1 ccgggccggg gtgccagcgc ccgccttccc gtttcctccc gttccgcagc gcgcccacgg
61 cctgtgaccc cggcgaccgc tccccagtga cgagagagcg gggccgggcg ctgctccggc
121 ctgacctgcg aagggacctc ggtccagtcc cctgttgcgc cgcgcccccg tccgtccgtg
181 cgcgggccag tcaggggcca gtgtctcgag cggtcgaggt cgcagaccta gaggcgcccc
241 acaggccggc ccggggcgct gggagcgccg gccgcgggcc gggtggggat gcctctgcac
301 gtgaagtggc cgttccccgc ggtgccgccg ctcacctgga ccctggccag cagcgtcgtc
361 atgggcttgg tgggcaccta cagctgcttc tggaccaagt acatgaacca cctgaccgtg
421 cacaacaggg aggtgctgta cgagctcatc gagaagcgag gcccggccac gcccctcatc
481 accgtgtcca atcaccagtc ctgcatggac gaccctcatc tctgggggat cctgaaactc
541 cgccacatct ggaacctgaa gttgatgcgt tggacccctg cagctgcaga catctgcttc
601 accaaggagc tacactccca cttcttcagc ttgggcaagt gtgtgcctgt gtgccgagga
661 gcagaatttt tccaagcaga gaatgagggg aaaggtgttc tagacacagg caggcacatg
721 ccaggtgctg gaaaaagaag agagaaagga gatggcgtct accagaaggg gatggacttc
781 attttggaga agctcaacca tggggactgg gtgcatatct tcccagaagg gaaagtgaac
841 atgagttccg aattcctgcg tttcaagtgg ggaatcgggc gcctgattgc tgagtgtcat
901 ctcaacccca tcatcctgcc cctgtggcat gtcggaatga atgacgtcct tcctaacagt
961 ccgccctact tcccccgctt tggacagaaa atcactgtgc tgatcgggaa gcccttcagt
1021 gccctgcctg tactcgagcg gctccgggcg gagaacaagt cggctgtgga gatgcggaaa
1081 gccctgacgg acttcattca agaggaattc cagcatctga agactcaggc agagcagctc
1141 cacaaccacc tccagcctgg gagataggcc ttgcttgctg ccttctggat tcttggcccg
1201 cacagagctg gggctgaggg atggactgat gcttttagct caaacgtggc ttttagacag
1261 atttgttcat agaccctctc aagtgccctc tccgagctgg taggcattcc agctcctccg
1321 tgcttcctca gttacacaaa ggacctcagc tgcttctccc acttggccaa gcagggagga
1381 agaagcttag gcagggctct ctttccttct tgccttcaga tgttctctcc caggggctgg
1441 cttcaggagg gagcatagaa ggcaggtgag caaccagttg gctaggggag cagggggccc
1501 accagagctg tggagagggg accctaagac tcctcggcct ggctcctacc caccgccctt
1561 gccgaaccag gagctgctca ctacctcctc agggatggcc gttggccacg tcttccttct
1621 gcctgagctt cccccccacc acaggccctt tcctcaggca aggtctggcc tcaggtgggc
1681 cgcaggcggg aaaagcagcc cttggccaga agtcaagccc agccacgtgg agcctagagt
1741 gagggcctga ggtctggctg cttgccccca tgctggcgcc aacaacttct ccatcctttc
1801 tgcctctcaa catcacttga atcctagggc ctgggttttc atgtttttga aacagaacca
1861 taaagcatat gtgttggctt gtt
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