LOCUS AF054505 3761 bp mRNA linear HUM 04-APR-1998
DEFINITION Homo sapiens erythroid K:Cl cotransporter splicing isoform 1 (KCC1)
mRNA, complete cds.
ACCESSION AF054505
VERSION AF054505.1
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 3761)
AUTHORS Pellegrino,C.M., Rybicki,A.C., Musto,S., Nagel,R.L. and
Schwartz,R.S.
TITLE Molecular identification and expression of erythroid K:Cl
cotransporter in human and mouse erythroleukemic cells
JOURNAL Blood Cells Mol. Dis. 24 (1), 31-40 (1998)
PUBMED 9516379
REFERENCE 2 (bases 1 to 3761)
AUTHORS Pellegrino,C.M., Rybicki,A.C., Musto,S., Nagel,R.L. and
Schwartz,R.S.
TITLE Direct Submission
JOURNAL Submitted (18-MAR-1998) Medicine-Hematology, Montefiore Medical
Center, 111 East 210th Street, Bronx, NY 10467, USA
FEATURES Location/Qualifiers
source 1..3761
/db_xref="H-InvDB:HIT000064549"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="16"
/map="16q22.1"
/cell_line="K562"
/cell_type="erythroleukemia"
gene 1..3761
/gene="KCC1"
CDS 1..3036
/gene="KCC1"
/function="cation-chloride cotransporter"
/codon_start=1
/product="erythroid K:Cl cotransporter splicing isoform 1"
/protein_id="AAC39684.1"
/translation="MPHFTVVPVDGPRRGDYDNLEGLSWVDYGERAELDDSDGHGNHR
ESSPFLSPLEASRGIDYYDRNLALFEEELDIRPKVSSLLGKLVSYTNLTQGAKEHEEA
ESGEGTRRRAAEAPSMGTLMGVYLPCLQNIFGVILFLRLTWMVGTAGVLQALLIVLIC
CCCTLLTAISMSAIATNGVVPAGGSYFMISRSLGPEFGGAVGLCFYLGTTFAAAMYIL
GAIEILLTYIAPPAAIFYPSGAHDTSNATLNNMRVYGTIFLTFMTLVVFVGVKYVNKF
ASLFLACVIISILSIYAGGIKSIFDPPVFPVCMLGNRTLSRDQFDICAKTAVVDNETV
ATQLWSFFCHSPNLTTDSCDPYFMLNNVTEIPGIPGAAAGVLQENLWSAYLEKGDIVE
KHGLPSADAPSLKESLPLYVVADIATSFTVLVGIFFPSVTGIMAGSNRSGDLRDAQKS
IPVGTILAIITTSLVYFSSVVLFGACIEGVVLRDKYGDGVSRNLVVGTLAWPSPWVIV
IGSFFSTCGAGLQSLTGAPRLLQAIAKDNIIPFLRVFGHGKVNGEPTWALLLTALIAE
LGILIASLDMVAPILSMFFLMCYLFVNLACAVQTLLRTPNWRPRFKYYHWALSFLGMS
LCLALMFVSSWYYALVAMLIAGMIYKYIEYQGAEKEWGDGIRGLSLSAARYALLRLEE
GPPHTKNWRPQLLVLLKLDEDLHVKYPRLLTFASQLKAGKGLTIVGSVIQGSFLESYG
EAQAAEQTIKNMMEIEKVKGFCQVVVASKVREGLAHLIQSCGLGGMRHNSVVLGWPYG
WRQSEDPRAWKTFIDTVRCTTAAHLALLVPKNIAFYPSNHERYLEGHIDVWWIVHDGG
MLMLLPFLLRQHKVWRKCRMRIFTVAQMDDNSIQMKKDLAVFLYHLRLEAEVEVVEMH
NSDISAYTYERTLMMEQRSQMLRQMRLTKTEREREAQLVKDRHSALRLESLYSDEEDE
SAVGADKIQMTWTRDKYMTETWDPSHAPDNFRELVHIKP"
misc_difference 3034..3181
/gene="KCC1"
/note="insertion results in truncated protein compared to
the product encoded by GenBank Accession Number AF047338"
/replace=""
BASE COUNT 723 a 1090 c 1132 g 816 t
ORIGIN
1 atgcctcact tcaccgtggt gccagtggac gggccgaggc gcggcgacta tgacaacctc
61 gaggggctca gttgggtgga ctacggggag cgcgccgagc tggatgactc ggacggacat
121 ggcaaccaca gagagagcag cccttttctt tcccccttgg aggcttccag aggaattgac
181 tactatgaca ggaacctggc actgtttgag gaagagctgg acatccgccc aaaggtatcg
241 tctcttctgg gaaagctcgt cagctacacc aacctcaccc agggcgccaa agagcatgag
301 gaggccgaga gtggggaggg cacccgccgg agggcagccg aggcacccag catgggcacc
361 ctcatggggg tgtacctgcc ctgcctgcag aatatctttg gggttatcct cttcctgcgg
421 ctgacctgga tggtgggcac agcaggtgtg ctacaggccc tcctcatcgt gcttatctgc
481 tgctgttgta ccctgctgac ggccatctcc atgagtgcca tcgccaccaa cggtgtggtt
541 ccagctgggg gctcctattt catgatctct cgttcactgg ggccagaatt tggaggtgct
601 gtgggcctgt gcttctacct gggaacaaca ttcgcagcag ccatgtacat cctgggggcc
661 atcgagatct tgctgaccta cattgcccca ccagctgcca ttttttaccc atcgggtgct
721 catgacacgt cgaatgccac tttgaacaat atgcgtgtgt atgggaccat tttcctgacc
781 ttcatgaccc tggtggtgtt tgtgggggtc aagtatgtga acaaatttgc ctcgctcttc
841 ctggcctgtg tgatcatctc catcctctcc atctatgctg ggggcataaa gtctatattt
901 gaccctcccg tgtttccggt atgcatgctg ggcaacagga ccctgtcccg ggaccagttt
961 gacatctgtg ccaagacagc tgtagtggac aatgagacag tggccaccca gctatggagt
1021 ttcttctgcc acagccccaa ccttacgacc gactcctgtg acccctactt catgctcaac
1081 aatgtgaccg agatccctgg catccccggg gcagctgctg gtgtgctcca ggaaaacctg
1141 tggagcgcct acctggagaa gggtgacatc gtggagaagc atgggctgcc ctccgcagat
1201 gccccgagcc tgaaggagag cctgcctctg tacgtggtcg ctgacatcgc cacatccttc
1261 accgtgctgg tcggcatctt cttcccttct gtaacaggca tcatggctgg ctcaaaccgc
1321 tctggggacc ttcgtgacgc ccagaagtct atccctgtgg ggaccattct ggccatcatt
1381 acaacttccc tcgtgtactt cagcagtgtg gttctctttg gtgcctgcat tgagggtgtg
1441 gttctccggg acaagtatgg cgatggtgtc agcaggaact tggtggtggg cacactggcc
1501 tggccttcac cctgggtcat cgtcatcggc tccttctttt caacgtgtgg cgctggcctc
1561 cagagcctca caggggcacc acgcctattg caggccattg ccaaggacaa catcatcccc
1621 ttcctccggg tgtttggcca cgggaaggtg aatggtgaac ccacatgggc actcctcctg
1681 acggcactca tcgccgagct gggcatcctc atcgcctccc tcgacatggt ggcccccatc
1741 ttatccatgt tctttctgat gtgctacctg ttcgtgaacc tcgcctgtgc ggtgcagaca
1801 ctcctgagga cccccaactg gcggccccgg ttcaagtact atcactgggc gctgtccttc
1861 ctgggcatga gtctctgcct ggcccttatg tttgtctcct cctggtacta tgccctggtg
1921 gccatgctca tcgccggcat gatctacaaa tacatcgagt accaaggggc tgagaaggag
1981 tggggtgacg ggatccgagg cctgtccctg agcgctgccc gctacgcgct gttgcggctg
2041 gaggaggggc ctcctcacac caagaactgg cggccgcagc tgctggtgct gctgaagctg
2101 gacgaggacc tccacgtgaa gtacccgcgg ctcctcacct tcgcctccca gctcaaggct
2161 ggcaagggcc tgaccattgt tggttctgtc atccagggga gcttcttgga gagctatggc
2221 gaggctcagg ccgccgagca gaccatcaag aacatgatgg aaattgagaa ggtgaagggc
2281 ttctgccagg tggtggtggc cagcaaggtg cgggaggggc tggcccacct catccagtcc
2341 tgtggcctgg gaggcatgcg gcataactcc gtggtgctgg gctggcccta cggctggcga
2401 cagagcgagg acccccgtgc ctggaagacc ttcattgaca ccgtgcgctg cactacggct
2461 gcccacctgg ccctgctcgt gcccaagaac atcgccttct accccagcaa ccacgagcgc
2521 tacctggagg gccacataga cgtgtggtgg atcgtgcacg atggtggcat gctcatgctt
2581 ctgcccttcc tgctgcgcca gcataaggtc tggaggaagt gccggatgcg catcttcaca
2641 gtggcccaga tggatgacaa cagcatccag atgaagaagg acctggctgt ctttctgtac
2701 catctgcgcc ttgaggccga ggtggaggtg gtggagatgc ataacagtga catctctgca
2761 tacacctacg agcggacgct gatgatggag cagcggtcgc agatgctgcg gcagatgaga
2821 ctgaccaaga ctgagcggga gcgagaagcc cagctggtca aggatcggca ctcggccctg
2881 cggctggaga gcctgtactc ggacgaggaa gatgagtctg cagtgggggc tgacaagatc
2941 cagatgacgt ggaccaggga caagtacatg actgagacct gggaccccag ccatgcccct
3001 gacaatttcc gggagctggt gcacattaag ccgtgagtgc agcaaaaaca gccccagcgg
3061 cactggaatc taggggtgga ggtggggtgg ggcagacaag tagtgttaga tgggccaggg
3121 gtggggaccc tccttgcagg atggctcatg gcgacctgtg actggctaca ctacgtgtag
3181 ggaccaatcc aatgtgcggc gcatgcacac tgctgtgaag ctcaatgaag tcattgtcac
3241 gcgctcccac gacgcccgcc tggttctcct aaacatgcct ggcccaccca ggaacagtga
3301 gggcgacgag aactacatgg agttcctcga ggtgctgacc gagggccttg agcgggtgct
3361 gttggtgcgc ggtggtggcc gtgaagtcat caccatctac tcctgagccc agtgtcatct
3421 tgtggcctgg agtcgaggtc ttggccagga cataacaagc tgtggtctgg ggtaacagcc
3481 tcttcccagc acccacctgc cagccctgct tgcctggccc tgtcctggac ccagctttgc
3541 taggtctcct tggaaaccag gcctgggcct caaaatggag atggatccca ggtcttgtgg
3601 gaccctggga tgtttgggga ctttactatc tagcacccca gtaggcctgt cctggccaga
3661 gaagactggt aggggccgag tggggtttga aggcagccgg cccggcccag cccaggagcg
3721 ctatttattg catatttatt gtttggatgt caccatcaga g
//