LOCUS SEG_HSATP6B 3752 bp DNA linear HUM 25-JUL-2016
DEFINITION Homo sapiens H+-ATPase beta 1 subunit (ATP6B1) gene, partial cds.
ACCESSION AH007312 AF107466 AF107467 AF107468 AF107469 AF107470 AF107471
AF107472 AF107473 AF107474 AF107475 AF107476 AF107477 AF107478
VERSION AH007312.2
KEYWORDS .
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 3752)
AUTHORS Karet,F.E., Finberg,K.E., Nelson,R.D., Nayir,A., Mocan,H.,
Sanjad,S.A., Rodriguez-Soriano,J., Santos,F., Cremers,C.W.R.J., Di
Pietro,A., Hoffbrand,B.I., Winiarski,J., Bakkaloglu,A., Ozen,S.,
Dusunsel,R., Goodyer,P., Hulton,S.A., Wu,D.K., Skvorak,A.B.,
Morton,C.C., Cunningham,M.J., Jha,V. and Lifton,R.P.
TITLE Mutations in the gene encoding B1 subunit of H+-ATPase cause renal
tubular acidosis with sensorineural deafness
JOURNAL Nat. Genet. 21 (1), 84-90 (1999)
PUBMED 9916796
REFERENCE 2 (bases 1 to 3752)
AUTHORS Karet,F.E., Finberg,K.E., Nelson,R.D. and Lifton,R.P.
TITLE Direct Submission
JOURNAL Submitted (19-NOV-1998) Yale University School of Medicine, Howard
Hughes Medical Institute, 295 Congress Avenue, New Haven, CT 06510,
USA
COMMENT On or before Jul 29, 2011 this sequence version replaced
AF107466.1, AF107467.1, AF107468.1, AF107469.1, AF107470.1,
AF107471.1, AF107472.1, AF107473.1, AF107474.1, AF107475.1,
AF107476.1, AF107477.1, AF107478.1, AH007312.1.
FEATURES Location/Qualifiers
source 1..3752
/organism="Homo sapiens"
/mol_type="genomic DNA"
/db_xref="taxon:9606"
gene <1..>3752
/gene="ATP6B1"
mRNA join(<1..10,241..296,548..646,843..936,1112..1189,
1412..1551,1732..1833,2052..2149,2330..2453,2647..2797,
2964..3046,3240..3344,3521..3650,3743..>3752)
/gene="ATP6B1"
/product="H+-ATPase beta 1 subunit"
CDS join(<1..10,241..296,548..646,843..936,1112..1189,
1412..1551,1732..1833,2052..2149,2330..2453,2647..2797,
2964..3046,3240..3344,3521..3650,3743..>3752)
/gene="ATP6B1"
/codon_start=1
/product="H+-ATPase beta 1 subunit"
/protein_id="AAD11943.1"
/translation="PRVTYRTVCSVNGPLVVLDRVKFAQYAEIVHFTLPDGTQRSGQV
LEVAGTKAIVQVFEGTSGIDARKTTCEFTGDILRTPVSEDMLGRVFNGSGKPIDKGPV
VMAEDFLDINGQPINPHSRIYPEEMIQTGISPIDVMNSIARGQKIPIFSAAGLPHNEI
AAQICRQAGLVKKSKAVLDYHDDNFAIVFAAMGVNMETARFFKSDFEQNGTMGNVCLF
LNLANDPTIERIITPRLALTTAEFLAYQCEKHVLVILTDMSSYAEALREVSAAREEVP
GRRGFPGYMYTDLATIYERAGRVEGRGGSITQIPILTMPNDDITHPIPDLTGFITEGQ
IYVDRQLHNRQIYPPINVLPSLSRLMKSAIGEGMTRKDHGDVSNQLYACYAIGKDVQA
MKAVVGEEALTSEDLLYLEFLQKFEKNFINQGPY"
exon <1..10
/gene="ATP6B1"
/number=1
gap 44..143
/estimated_length=unknown
exon 241..296
/gene="ATP6B1"
/number=2
gap 423..522
/estimated_length=unknown
exon 548..646
/gene="ATP6B1"
/number=3
gap 709..808
/estimated_length=unknown
exon 843..936
/gene="ATP6B1"
/number=4
gap 985..1084
/estimated_length=unknown
exon 1112..1189
/gene="ATP6B1"
/number=5
gap 1263..1362
/estimated_length=unknown
exon 1412..1551
/gene="ATP6B1"
/number=6
gap 1582..1681
/estimated_length=unknown
exon 1732..1833
/gene="ATP6B1"
/number=7
gap 1886..1985
/estimated_length=unknown
exon 2052..2149
/gene="ATP6B1"
/number=8
gap 2189..2288
/estimated_length=unknown
exon 2330..2453
/gene="ATP6B1"
/number=9
gap 2514..2613
/estimated_length=unknown
exon 2647..2797
/gene="ATP6B1"
/number=10
gap 2831..2930
/estimated_length=unknown
exon 2964..3046
/gene="ATP6B1"
/number=11
gap 3089..3188
/estimated_length=unknown
exon 3240..3344
/gene="ATP6B1"
/number=12
gap 3392..3491
/estimated_length=unknown
exon 3521..3650
/gene="ATP6B1"
/number=13
exon 3743..>3752
/gene="ATP6B1"
/number=14
BASE COUNT 513 a 791 c 709 g 536 t
ORIGIN
1 ccccgtgtca gtgagctagc ccctccaccg tgacgggtga ggtnnnnnnn nnnnnnnnnn
61 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
121 nnnnnnnnnn nnnnnnnnnn nnnggtgggg tgtggagaga ggaagggaag gcagaggatg
181 cctctgtgtg tgtgagcagg gtgtttgggg tgagacccct actcaccccg ccctccccag
241 cctacaggac tgtgtgcagc gtgaacgggc ccctggtggt gctggaccgg gtcaaggtaa
301 gactcttctg ctgcctccct ggcactaagg ccaaatccca gggcgcctct cccctgccct
361 gcaggatttc ttctaaatta ccctttccct ccatggcccc cagggcctgc tctgttctct
421 ccnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
481 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnacgtggct gctctccctc
541 ctgccagttt gcccagtatg cggagatcgt ccacttcacc ctcccagatg ggactcagag
601 gagcgggcag gtgcttgagg tggctggcac caaggcgatt gttcaggtga gtggggtcaa
661 tgggacattg gctagttaaa tcaatgaatt aacccataaa gttcccaann nnnnnnnnnn
721 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
781 nnnnnnnnnn nnnnnnnnnn nnnnnnnncc cttagtggag aaactccctc ttgttcccac
841 aggtgtttga agggacatca gggatcgatg ccaggaagac cacttgcgaa tttacagggg
901 acatcctacg aactccggtg tcagaggaca tgctgggtga gggacaggga ggggcagggg
961 tgggggtgct cctctgccct ccccnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
1021 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
1081 nnnncctgca tcactcctcg tccaccctca ggtcgggttt tcaatggctc cggcaagccc
1141 attgacaagg ggccagtggt catggcggag gactttctgg atatcaatgg tgagtgactg
1201 gangttctgg atggcttcgg gacccagccc taacacnttc cccantcttg gaagttctgc
1261 ccnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
1321 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nngggaaggg tttgaacccc
1381 tgagcatggc tctgtgatcg ccctctccca ggccagccca tcaacccgca ctcccgcatc
1441 taccccgagg agatgattca gacgggcatt tctcctattg acgtcatgaa cagcattgcc
1501 cgcggccaga agatccccat cttctcagca gccgggctcc cccacaatga ggtgaggcct
1561 gcagggccag caggcatggc tnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
1621 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
1681 nggggtcagc tccgactctg acgtcctcct gcccaatcca ctctgcctta gattgccgct
1741 cagatctgcc gccaggcggg gctggtgaag aagtccaagg ctgtgctgga ttaccatgac
1801 gacaacttcg ccatcgtctt tgcagccatg ggggtgagga gacttagtag actggcaagt
1861 tctggaggct gtgagcaggc agcctnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
1921 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
1981 nnnnngggag gggccaggcc ttgccctcag gccacagggc cctacctcca gcccacctgc
2041 tgtgtatcca ggtgaacatg gagacagcca gattcttcaa gtctgacttt gagcagaatg
2101 gaaccatggg gaacgtctgc ctcttcctga acttggccaa tgaccccacg tgagctttcc
2161 ctgatgccca aactgccctc aggtgggcnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
2221 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
2281 nnnnnnnncc aggcctccag gctctctaaa cacctggcta cacctccagg atcgagcgga
2341 tcatcacccc gcgcctggcg ctgaccactg ctgaattcct tgcctaccag tgtgagaagc
2401 atgtgctggt catactgacg gacatgagtt cctatgcaga ggccttgcgg gaggtaagct
2461 ggctagcaag gggtgtcaga ttcctcccta cccctcccta agcctgagag gggnnnnnnn
2521 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
2581 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnccatttc atacccagtg cccatggata
2641 ttgcaggtct ctgctgctag agaggaggtg cctgggcgcc gagggtttcc tggatatatg
2701 tacacagacc tggccaccat ctacgagcgg gcgggccgtg tggagggtcg gggaggatcc
2761 atcacacaga tccccatcct caccatgccc aacgacggta gcctcctcac agcccactac
2821 cctccagagc nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
2881 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn cacccacact
2941 gaggccagtg agttttcttg tagatatcac ccaccctatc ccagacttga cgggcttcat
3001 cacagaggga cagatctacg tggacagaca gcttcacaac agacaggtac tgccctgtcc
3061 ctacccactt cctgctctca gcccagagnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
3121 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
3181 nnnnnnnnga gcaaagcttg agtcctgttg tccaccactc cctttttctt ctccctcaga
3241 tctacccccc catcaacgtg ctcccttccc tgtcgcggct gatgaagtca gccattgggg
3301 aaggcatgac aagaaaggac catggagatg tctccaacca gctggtaagg agaagagggt
3361 ccgggggctg gtaggtcctc tagtttccga annnnnnnnn nnnnnnnnnn nnnnnnnnnn
3421 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
3481 nnnnnnnnnn ncagcggcca cggccttgcc cctcccccag tacgcctgct atgccatcgg
3541 gaaggacgtg caggccatga aggcagtagt tggggaggag gcgctcacct ctgaggacct
3601 gctctacctg gaattcctgc agaagtttga gaagaacttc atcaatcagg gtaaggcgcg
3661 tcgctggtgt ggagccagta acctcttcac cctccttccg ccccacacac attcctaaca
3721 ctccctcccg ctctgtccct aggcccctac ga
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