LOCUS AJ277750 2487 bp mRNA linear HUM 07-OCT-2008
DEFINITION Homo sapiens mRNA for UBASH3A protein.
ACCESSION AJ277750
VERSION AJ277750.1
KEYWORDS UBASH3A gene; UBASH3A protein.
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 2487)
AUTHORS Wattenhofer M.
JOURNAL Submitted (08-MAY-2000) to the INSDC. Wattenhofer M., Medical
genetics, CMU, Geneva University, 1, rue michel Servet, 1211 Geneve
4, SWITZERLAND.
REFERENCE 2
AUTHORS Wattenhofer M., Kudoh J., Berry A., Bonne-Tamir B., Michaud J.,
Rossier C., Shibuya K., Kawasaki K., Asakawa S., Minoshima S.,
Shimizu N., Antonarakis S.E., Scott H.S.
TITLE Isolation and Characterization of a novel 21q22.3 gene, UBASH3A,
and its exclusion for a form of autosomal recessive deafness,
DFNB10.
JOURNAL Hum. Genet. 108(2), 140-147(2001).
PUBMED 11281453
FEATURES Location/Qualifiers
source 1..2487
/db_xref="H-InvDB:HIT000246402"
/organism="Homo sapiens"
/chromosome="21"
/map="21q22.3"
/mol_type="mRNA"
/tissue_type="placenta"
/db_xref="taxon:9606"
5'UTR <1..31
/gene="UBASH3A"
CDS 32..2017
/gene="UBASH3A"
/product="UBASH3A protein"
/function="unknown"
/note="alternative splicing of nt 585-698 without
frameshift"
/db_xref="GOA:P57075"
/db_xref="H-InvDB:HIT000246402.14"
/db_xref="HGNC:HGNC:12462"
/db_xref="InterPro:IPR001452"
/db_xref="InterPro:IPR009060"
/db_xref="InterPro:IPR013078"
/db_xref="InterPro:IPR015940"
/db_xref="InterPro:IPR029033"
/db_xref="InterPro:IPR035634"
/db_xref="InterPro:IPR036028"
/db_xref="PDB:2CRN"
/db_xref="PDB:5WDI"
/db_xref="UniProtKB/Swiss-Prot:P57075"
/experiment="experimental evidence, no additional details
recorded"
/protein_id="CAB91543.1"
/translation="MAAGETQLYAKVSNKLKSRSSPSLLEPLLAMGFPVHTALKALAA
TGRKTAEEALAWLHDHCNDPSLDDPIPQEYALFLCPTGPLLEKLQEFWRESKRQCAKN
RAHEVFPHVTLCDFFTCEDQKVECLYEALKRAGDRLLGSFPTAVPLALHSSISYLGFF
VSGSPADVIREFAMTFATEASLLAGTSVSRFWIFSQVPGHGPNLRLSNLTRASFVSHY
ILQKYCSVKPCTKQLHLTLAHKFYPHHQRTLEQLARAIPLGHSCQWTAALYSRDMRFV
HYQTLRALFQYKPQNVDELTLSPGDYIFVDPTQQDEASEGWVIGISQRTGCRGFLPEN
YTDRASESDTWVKHRMYTFSLATDLNSRKDGEASSRCSGEFLPQTARSLSSLQALQAT
VARKSVLVVRHGERVDQIFGKAWLQQCSTPDGKYYRPDLNFPCSLPRRSRGIKDFEND
PPLSSCGIFQSRIAGDALLDSGIRISSVFASPALRCVQTAKLILEELKLEKKIKIRVE
PGIFEWTKWEAGKTTPTLMSLEELKEANFNIDTDYRPAFPLSALMPAESYQEYMDRCT
ASMVQIVNTCPQDTGVILIVSHGSTLDSCTRPLLGLPPRECGDFAQLVRKIPSLGMCF
CEENKEEGKWELVNPPVKTLTHGANAAFNWRNWISGN"
3'UTR 2018..2487
/gene="UBASH3A"
/experiment="experimental evidence, no additional details
recorded"
BASE COUNT 598 a 717 c 669 g 503 t
ORIGIN
1 ggcgagcttc ttggcctaag ggcaggaaga gatggcagcg ggggagacgc agctctacgc
61 caaggtctcc aacaagctca agagccgcag cagcccctcg ctcctggagc ccctcctggc
121 catgggcttc ccggtgcaca ccgcgctgaa agcgttggca gccacgggga ggaagacggc
181 ggaggaggcc ttggcctggc tgcatgatca ttgcaatgac ccttccctag acgaccccat
241 cccccaggag tatgcccttt tcctctgtcc aacggggccc ctgctggaaa aacttcaaga
301 gttctggaga gagagcaagc gccagtgtgc aaagaacaga gctcatgagg tcttcccaca
361 cgtgacactc tgtgacttct tcacgtgtga agaccagaag gtggaatgcc tgtacgaggc
421 gctgaagaga gctggagaca ggctcctggg ctccttcccc acggccgtgc ctctggctct
481 ccactcctcc atcagctacc tcggcttctt cgtcagtggc agccccgcag acgtcatccg
541 ggaattcgcc atgaccttcg ccacggaagc atctctctta gcaggcactt ccgtttcccg
601 cttctggatt ttcagccagg tgcctggaca tggccctaac ctgaggctga gcaatttaac
661 tagagcctcc ttcgtgagcc actacatcct tcaaaaatac tgctccgtga agccttgcac
721 caaacagctg catctgacct tggcccacaa gttctacccc caccaccaga ggacgctgga
781 gcagctggcc agagccatcc ccctgggcca cagctgccag tggaccgcag cactctactc
841 ccgagacatg cgctttgtgc actaccagac cctgagagcc ctattccagt acaaacccca
901 gaacgtggat gagctgacgc taagtcctgg tgactacatc tttgtggacc ccacgcagca
961 ggacgaagcc agcgagggct gggtgattgg gatctcacag cggacgggct gccggggctt
1021 cctgccggaa aactacacgg atcgagccag tgagtctgac acgtgggtga agcacaggat
1081 gtacaccttc agtctagcca cagacctgaa ctccagaaag gatggtgaag ccagcagcag
1141 atgcagcggg gaatttcttc cacaaacggc aaggagtctt agcagcttac aggccttgca
1201 ggctaccgtt gcaaggaaga gcgtgctggt ggttcgccac ggggagagag tggatcagat
1261 cttcgggaag gcatggctgc agcaatgctc cactcctgat gggaaatact acaggccaga
1321 cctgaatttc ccctgcagtc tgccaagacg gagtcgtggg atcaaagact ttgaaaacga
1381 tcccccatta tcatcgtgtg gcattttcca gtccagaatt gcaggggacg cgctactgga
1441 cagtggtatc agaatcagct ctgtgtttgc ctccccagcc ctccgctgtg tgcagacggc
1501 caaactcatc ctggaagaac tcaaactgga gaaaaaaatc aagatacgag tggaacctgg
1561 aatctttgaa tggacaaaat gggaagctgg caaaaccacc ccaaccctca tgagcctgga
1621 agagctgaaa gaggcaaatt tcaacattga cactgattac aggcccgcgt ttcccctgtc
1681 cgccctcatg ccggccgaga gctaccagga gtacatggac aggtgcacgg cgagcatggt
1741 gcaaatcgtc aacacctgtc cacaggacac gggtgtcatc ctaattgtga gtcacggctc
1801 cactctggac tcctgcacgc ggccactgct cgggctgccg ccccgggaat gtggggattt
1861 tgcccaactc gtgagaaaga tcccttccct gggcatgtgc ttctgtgaag aaaataaaga
1921 ggaaggaaaa tgggagttgg tgaacccacc ggtgaagacc ctgacccacg gggcgaacgc
1981 agcatttaac tggaggaact ggatctcagg caactgagag ccacggtgat gttgtcataa
2041 cctcagagtg gagaggcaga aaccatgtgc agaggctggg agatgctgct gtttccagag
2101 gcgtcttagt ctcacccaat gtgatttgta gaagcacgag acgcactttt atatcccgga
2161 atatttccct ccggctttcg cctttgtaac tcccatctgt ggacccatcg tccaccagcc
2221 cagctgcggg gagcacaggg caggtggctg ggtgaggatg ccgccctgca gcatgtacac
2281 cgagtgtctg cagctgggga cacaactgcc cgggactcta acttccagga attaaagact
2341 caccacacac gaaggatcta accacttcat tttccatggt ctaatcatta aattcccaat
2401 cgttttttct ttttctgggt ccatcactct ttagccatat ccacatgggc taaaacaggt
2461 gtaatagtca ataaaatggt cccagaa
//