LOCUS AY034632 1396 bp mRNA linear HUM 14-NOV-2001
DEFINITION Homo sapiens barttin (BSND) mRNA, complete cds.
ACCESSION AY034632
VERSION AY034632.1
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 1396)
AUTHORS Birkenhager,R., Otto,E., Schurmann,M.J., Vollmer,M., Ruf,E.M.,
Maier-Lutz,I., Beekmann,F., Fekete,A., Omran,H., Feldmann,D.,
Milford,D.V., Jeck,N., Konrad,M., Landau,D., Knoers,N.V.,
Antignac,C., Sudbrak,R., Kispert,A. and Hildebrandt,F.
TITLE Mutation of BSND causes Bartter syndrome with sensorineural
deafness and kidney failure
JOURNAL Nat. Genet. 29 (3), 310-314 (2001)
PUBMED 11687798
REFERENCE 2 (bases 1 to 1396)
AUTHORS Birkenhager,R., Edgar,O., Vollmer,M., Schuermann,M., Eva-Maria,R.,
Maier-Lutz,I., Beekmann,F., Fekete,A. and Hildebrandt,F.
TITLE Direct Submission
JOURNAL Submitted (15-MAY-2001) University Childrens's Hospital,
Mathildenstrasse 1, Freiburg D-79106, Germany
FEATURES Location/Qualifiers
source 1..1396
/db_xref="H-InvDB:HIT000083496"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1p31-p32"
/clone="IMAGE:2299232"
/tissue_type="kidney"
gene 1..1396
/gene="BSND"
CDS 244..1206
/gene="BSND"
/codon_start=1
/product="barttin"
/protein_id="AAK57750.1"
/translation="MADEKTFRIGFIVLGLFLLALGTFLMSHDRPQVYGTFYAMGSVM
VIGGIIWSMCQCYPKITFVPADSDFQGILSPKAMGLLENGLAAEMKSPSPQPPYVRLW
EEAAYDQSLPDFSHIQMKVMSYSEDHRSLLAPEMGQPKLGTSDGGEGGPGDVQAWMEA
AVVIHKGSDESEGERRLTQSWPGPLACPQGPAPLASFQDDLDMDSSEGSSPNASPHDR
EEACSPQQEPQGCRCPLDRFQDFALIDAPTLEDEPQEGQQWEIALPNNWQRYPRTKVE
EKEASDTGGEEPEKEEEDLYYGLPDGAGDLLPDKELGFEPDTQG"
BASE COUNT 317 a 375 c 433 g 271 t
ORIGIN
1 gagagggcaa ggagtaaagg tggctgggtg tgggtccgtt gaagcgagcc gcctccagcc
61 ctgttgaact ggtgggccca gggactggag cgggattgaa agggatcttg ctctcccttg
121 aagcctcgag ttgcagcgat ttcagtgtct tctctccctg tgtaagcctg tctgggtgtt
181 taggctgaac tacagccacc ccctctcccg ggggtgtgca ggccagggac tggccaggca
241 gccatggctg acgagaagac cttccggatc ggcttcattg tgctggggct tttcctgctg
301 gccctcggta cgttcctcat gagccatgat cggccccagg tctacggcac cttctatgcc
361 atgggcagcg tcatggtgat cgggggcatc atctggagca tgtgccagtg ctaccccaag
421 atcaccttcg tccctgctga ctctgacttt caaggcatcc tctccccaaa ggccatgggc
481 ctgctggaga atgggcttgc tgccgagatg aagagcccca gtccccagcc gccctatgta
541 aggctgtggg aggaagccgc ctatgaccag agcctgcctg acttcagcca catccagatg
601 aaagtcatga gctacagtga ggaccaccgc tccttgctgg cccctgagat ggggcagccg
661 aagctgggaa ccagtgatgg aggagaaggt ggccctggcg acgttcaggc ctggatggag
721 gctgccgtgg tcatccacaa gggctcagac gagagtgaag gggaaagacg cctaactcag
781 agctggcccg gccccctggc ctgtccccag ggccctgccc ccttggcttc cttccaagat
841 gacctggaca tggactccag tgaaggcagc agccccaatg catctccaca tgacagggag
901 gaagcttgtt ccccacaaca ggaacctcag ggctgcaggt gcccgctgga ccgcttccaa
961 gactttgccc tgattgatgc cccaacgttg gaggatgagc cccaagaggg gcagcagtgg
1021 gaaatagccc tgcccaacaa ctggcagcgg tacccaagga caaaggtgga ggagaaggag
1081 gcttcggaca caggtgggga ggaacctgag aaggaagagg aagacctgta ctatgggctg
1141 ccagatggag ccggggacct cctcccggac aaggagctgg gttttgagcc tgacacccaa
1201 ggctgagatg tttgtgctcc gtagctttta gtctggaact gctgctgacc cctgtgtgac
1261 atcacagggc ctcagtttcc ctatttgcaa aatgggatga tatggaggtt caatgagatg
1321 gtggcatttt gagaatggta aagaaatacc cagggagggg atgatgccta aaaaaaaaaa
1381 aaaaaaaaaa aaaaaa
//