LOCUS DQ419529 2890 bp mRNA linear HUM 22-MAR-2006
DEFINITION Homo sapiens solute carrier family 4 anion exchanger member 1
variant (SLC4A1) mRNA, complete cds.
ACCESSION DQ419529
VERSION DQ419529.1
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 2890)
AUTHORS Choo,K.E., Nicoli,T.K., Bruce,L.J., Tanner,M.J., Ruiz-Linares,A.
and Wrong,O.M.
TITLE Recessive distal renal tubular acidosis in Sarawak caused by AE1
mutations
JOURNAL Pediatr. Nephrol. 21 (2), 212-217 (2006)
PUBMED 16252102
REFERENCE 2 (bases 1 to 2890)
AUTHORS Bruce,L.J., Choo,K.E., Nicoli,T.K., Tanner,M.J.A., Ruiz-Linares,A.
and Wrong,O.M.
TITLE Direct Submission
JOURNAL Submitted (28-FEB-2006) Bristol Institute for Transfusion Sciences,
National Blood Service, Southmead, Bristol BS10 5ND, U.K.
FEATURES Location/Qualifiers
source 1..2890
/db_xref="H-InvDB:HIT000343135"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
gene 1..2890
/gene="SLC4A1"
CDS 69..2804
/gene="SLC4A1"
/note="UNIMAS band 3; AE1; erythrocyte membrane protein
band 3, Diego blood group"
/codon_start=1
/product="solute carrier family 4 anion exchanger member 1
variant"
/protein_id="ABD74692.1"
/translation="MEELQDDYEDMMEENLEQEEYEDPDIPESQMEEPAAHATEATAT
DYHTTSHPGTHKVYVELQELVMDEKNQELRWMEAARWVQLEENLGENGAWGRPHLSHL
TFWSLLELRRVFTKGTVLLDLQETSLAGVANQLLDRFIFEDQIRPQDREELLRALLLK
HSHAGELEALGGVKPAVLTRSGDPSQPLLPQHSSLETQLFCEQGDGGTEGHSPSGILE
KIPPDSEATLVLVGRADFLEQPVLGFVRLQEAAELEAVELPVPIRFLFVLLGPEAPHI
DYTQLGRAAATLMSERVFRIDAYMAQSRGELLHSLEGFLDCSLVLPPTDAPSEQALLS
LVPVQRELLRRRYQSSPAKPDSSFYKGLDLNGGPDDPLQQTGQLFGGLVRDIRRRYPY
YLSDITDAFSPQVLAAVIFIYFAALSPAITFGGLLGEKTRNQMGVSELLISTAVQGIL
FALLGAQPLLVVGFSGPLLVFEEAFFSFCETNGLEYIVGRVWIGFWLILLVVLVVAFE
GSFLVRFISRYTQEIFSFLISLIFIYETFSKLIKIFQDHPLQKTYNYNVLMVPKPQGP
LPNTALLSLVLMAGTFFFAMMLRKFKNSSYFPGKLRRVIGDFGVPISILIMVLVDFFI
QDTYTQKLSVPDGFKVSNSSARGWVIHPLGLRSEFPIWMMFASALPALLVFILIFLES
QITTLIVSKPERKMVKGSGFHLDLLLVVGMGGVAALFGMPWLSATTVRSVTHANALTV
MGKASTPGAAAQIQEVKEHRISGLLVAVLVGLSILMEPILSRIPLAVLFGIFLYMGVT
SLSGIQLFDRILLLFKPPKYHPDVPYVKRVKTWRMHLFTGIQIICLAVLWVVKSTPAS
LALPFVLILTVPLRRVLLPLIFRNVELQCLDADDAKATFDEEEGRDEYDEVAMPV"
BASE COUNT 542 a 906 c 818 g 624 t
ORIGIN
1 ggacccgcgg tgcgggttat gctgggggct cagatcaccg tagacaactg gacactcagg
61 accacgccat ggaggagctg caggatgatt atgaagacat gatggaggag aatctggagc
121 aggaggaata tgaagaccca gacatccccg agtcccagat ggaggagccg gcagctcacg
181 ccaccgaggc aacagccaca gactaccaca ccacatcaca cccgggtacc cacaaggtct
241 atgtggagct gcaggagctg gtgatggacg aaaagaacca ggagctgaga tggatggagg
301 cggcgcgctg ggtgcaactg gaggagaacc tgggggagaa tggggcctgg ggccgcccgc
361 acctctctca cctcaccttc tggagcctcc tagagctgcg tagagtcttc accaagggta
421 ctgttctcct agacctgcaa gagacctccc tggctggagt ggccaaccaa ctgctagaca
481 ggtttatctt tgaagaccag atccggcctc aggaccgaga ggagctgctc cgggccctgc
541 tgcttaaaca cagccacgct ggagagctgg aggccctggg gggtgtgaag cctgcagtcc
601 tgacacgctc tggggatcct tcacagcctc tgctccccca acactcctca ctggagacac
661 agctcttctg tgagcaggga gatgggggca cagaagggca ctcaccatct ggaattctgg
721 aaaagattcc cccggattca gaggccacgt tggtgctagt gggccgcgcc gacttcctgg
781 agcagccggt gctgggcttc gtgaggctgc aggaggcagc ggagctggag gcggtggagc
841 tgccggtgcc tatacgcttc ctctttgtgt tgctgggacc tgaggccccc cacatcgatt
901 acacccagct tggccgggct gctgccaccc tcatgtcaga gagggtgttc cgcatagatg
961 cctacatggc tcagagccga ggggagctgc tgcactccct agagggcttc ctggactgca
1021 gcctagtgct gcctcccacc gatgccccct ccgagcaggc actgctcagt ctggtgcctg
1081 tgcagaggga gctacttcga aggcgctatc agtccagccc tgccaagcca gactccagct
1141 tctacaaggg cctagactta aatgggggcc cagatgaccc tctgcagcag acaggccagc
1201 tcttcggggg cctggtgcgt gatatccggc gccgctaccc ctattacctg agtgacatca
1261 cagatgcatt cagcccccag gtcctggctg ccgtcatctt catctacttt gctgcactgt
1321 cacccgccat caccttcggc ggcctcctgg gagaaaagac ccggaaccag atgggagtgt
1381 cggagctgct gatctccact gcagtgcagg gcattctctt cgccctgctg ggggctcagc
1441 ccctgcttgt ggtcggcttc tcaggacccc tgctggtgtt tgaggaagcc ttcttctcgt
1501 tctgcgagac caacggtcta gagtacatcg tgggccgcgt gtggatcggc ttctggctca
1561 tcctgctggt ggtgttggtg gtggccttcg agggtagctt cctggtccgc ttcatctccc
1621 gctataccca ggagatcttc tccttcctca tttccctcat cttcatctat gagactttct
1681 ccaagctgat caagatcttc caggaccacc cactacagaa gacttataac tacaacgtgt
1741 tgatggtgcc caaacctcag ggccccctgc ccaacacagc cctcctctcc cttgtgctca
1801 tggccggtac cttcttcttt gccatgatgc tgcgcaagtt caagaacagc tcctatttcc
1861 ctggcaagct gcgtcgggtc atcggggact tcggggtccc catctccatc ctgatcatgg
1921 tcctggtgga tttcttcatt caggatacct acacccagaa actctcggtg cctgatggct
1981 tcaaggtgtc caactcctca gcccggggct gggtcatcca cccactgggc ttgcgttccg
2041 agtttcccat ctggatgatg tttgcctccg ccctgcctgc tctgctggtc ttcatcctca
2101 tattcctgga gtctcagatc accacgctga ttgtcagcaa acctgagcgc aagatggtca
2161 agggctccgg cttccacctg gacctgctgc tggtagtagg catgggtggg gtggccgccc
2221 tctttgggat gccctggctc agtgccacca ccgtgcgttc cgtcacccat gccaacgccc
2281 tcactgtcat gggcaaagcc agcaccccag gggctgcagc ccagatccag gaggtcaaag
2341 agcatcggat cagtggactc ctggtcgctg tgcttgtggg cctgtccatc ctcatggagc
2401 ccatcctgtc ccgcatcccc ctggctgtac tgtttggcat cttcctctac atgggggtca
2461 cgtcgctcag cggcatccag ctctttgacc gcatcttgct tctgttcaag ccacccaagt
2521 atcacccaga tgtgccctac gtcaagcggg tgaagacctg gcgcatgcac ttattcacgg
2581 gcatccagat catctgcctg gcagtgctgt gggtggtgaa gtccacgccg gcctccctgg
2641 ccctgccctt cgtcctcatc ctcactgtgc cgctgcggcg cgtcctgctg ccgctcatct
2701 tcaggaacgt ggagcttcag tgtctggatg ctgatgatgc caaggcaacc tttgatgagg
2761 aggaaggtcg ggatgaatac gacgaagtgg ccatgcctgt gtgaggggcg ggcccaggcc
2821 ctagaccctc ccccaccatt ccacatcccc accttccaag gaaaagcaga agttcatggg
2881 cacctcatgg
//