LOCUS AJ580094 6013 bp mRNA linear HUM 07-OCT-2008
DEFINITION Homo sapiens mRNA for ATPase, Class VI, type 11C (ATP11C gene),
alternative splice product.
ACCESSION AJ580094
VERSION AJ580094.1
KEYWORDS alternative splicing; ATP11C gene; ATPase, Class VI, type 11C.
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 6013)
AUTHORS Nesbit M.A.
JOURNAL Submitted (07-AUG-2003) to the INSDC. Nesbit M.A., Nuffield
Department of Medicine, Univeristy of Oxford, Botnar Research
Centre, Nuffield Orthopaedic Centre, Windmill Road, Oxford,
Oxfordshire, OX3 7LD, UNITED KINGDOM.
REFERENCE 2
AUTHORS Nesbit M.A., Bowl M.R., Harding B., Mumm S., Schlessinger D.,
Whyte M.P., Thakker R.V.
TITLE Narrowing of the interval, and evaluation as candidates of four
genes, in X-linked recessive hypoparathyroidism
JOURNAL Unpublished.
FEATURES Location/Qualifiers
source 1..6013
/db_xref="H-InvDB:HIT000249124"
/organism="Homo sapiens"
/chromosome="X"
/map="Xq27.1"
/mol_type="mRNA"
/cell_type="leucocyte"
/tissue_type="liver"
/db_xref="taxon:9606"
CDS 102..3461
/gene="ATP11C"
/product="ATPase, Class VI, type 11C"
/function="putative transbilayer amphipath transporter"
/EC_number="3.6.3.1"
/db_xref="GOA:Q8NB49"
/db_xref="H-InvDB:HIT000249124.14"
/db_xref="HGNC:HGNC:13554"
/db_xref="InterPro:IPR001757"
/db_xref="InterPro:IPR006539"
/db_xref="InterPro:IPR008250"
/db_xref="InterPro:IPR018303"
/db_xref="InterPro:IPR020846"
/db_xref="InterPro:IPR023214"
/db_xref="InterPro:IPR023298"
/db_xref="InterPro:IPR023299"
/db_xref="InterPro:IPR030363"
/db_xref="InterPro:IPR032630"
/db_xref="InterPro:IPR032631"
/db_xref="InterPro:IPR036412"
/db_xref="UniProtKB/Swiss-Prot:Q8NB49"
/protein_id="CAE30473.1"
/translation="MQMVPSLPPASECAGEEKRVGTRTVFVGNHPVSETEAYIAQRFC
DNRIVSSKYTLWNFLPKNLFEQFRRIANFYFLIIFLVQVTVDTPTSPVTSGLPLFFVI
TVTAIKQGYEDWLRHRADNEVNKSTVYIIENAKRVRKESEKIKVGDVVEVQADETFPC
DLILLSSCTTDGTCYVTTASLDGESNCKTHYAVRDTIALCTAESIDTLRAAIECEQPQ
PDLYKFVGRINIYSNSLEAVARSLGPENLLLKGATLKNTEKIYGVAVYTGMETKMALN
YQGKSQKRSAVEKSINAFLIVYLFILLTKAAVCTTLKYVWQSTPYNDEPWYNQKTQKE
RETLKVLKMFTDFLSFMVLFNFIIPVSMYVTVEMQKFLGSFFISWDKDFYDEEINEGA
LVNTSDLNEELGQVDYVFTDKTGTLTENSMEFIECCIDGHKYKGVTQEVDGLSQTDGT
LTYFDKVDKNREELFLRALCLCHTVEIKTNDAVDGATESAELTYISSSPDEIALVKGA
KRYGFTFLGNRNGYMRVENQRKEIEEYELLHTLNFDAVRRRMSVIVKTQEGDILLFCK
GADSAVFPRVQNHEIELTKVHVERNAMDGYRTLCVAFKEIAPDDYERINRQLIEAKMA
LQDREEKMEKVFDDIETNMNLIGATAVEDKLQDQAAETIEALHAAGLKVWVLTGDKME
TAKSTCYACRLFQTNTELLELTTKTIEESERKEDRLHELLIEYRKKLLHEFPKSTRSF
KKAWTEHQEYGLIIDGSTLSLILNSSQDSSSNNYKSIFLQICMKCTAVLCCRMAPLQK
AQIVRMVKNLKGSPITLSIGDGANDVSMILESHVGIGIKGKEGRQAARNSDYSVPKFK
HLKKLLLAHGHLYYVRIAHLVQYFFYKNLCFILPQFLYQFFCGFSQQPLYDAAYLTMY
NICFTSLPILAYSLLEQHINIDTLTSDPRLYMKISGNAMLQLGPFLYWTFLAAFEGTV
FFFGTYFLFQTASLEENGKVYGNWTFGTIVFTVLVFTVTLKLALDTRFWTWINHFVIW
GSLAFYVFFSFFWGGIIWPFLKQQRMYFVFAQMLSSVSTWLAIILLIFISLFPEILLI
VLKNVRRRSARNPNLELPMLLSYKHTDSGYS"
BASE COUNT 1925 a 1052 c 1143 g 1893 t
ORIGIN
1 acttacaagg atcacagggg ttggtacaag ttgcttgata atctgcagca ttctctctga
61 gatttagctg ccattgtgtt gccaaatttc tgcatgtcag tatgcagatg gtcccatctc
121 tccctccagc ctctgagtgt gctggagaag agaaacgagt tggcacacgc acagtgtttg
181 ttggcaatca tccagtttcg gaaacagaag cttacattgc acaaagattt tgtgataata
241 gaatagtctc atctaagtat acactttgga attttctccc aaagaatctg tttgaacagt
301 ttagaagaat tgcaaatttt tattttctca taatcttcct tgtacaggtc acagtagaca
361 caccaactag cccagttacc agtggacttc cacttttctt tgttataact gttacagcca
421 tcaagcaggg atatgaggat tggctgagac acagagctga caatgaagtc aacaaaagca
481 ctgtttacat tattgaaaat gcaaagcgag tgagaaaaga aagtgaaaaa atcaaggttg
541 gtgatgtagt agaagtacag gcagatgaaa cctttccctg tgatcttatt cttctatcat
601 cttgcaccac tgatggaacc tgttatgtca ctacagccag tcttgatggg gaatccaatt
661 gcaagacaca ttatgcagta cgtgatacca ttgcactgtg tacagcagaa tccatcgata
721 ccctccgagc agcaattgaa tgtgaacagc ctcaacctga cctctacaaa tttgttgggc
781 gaatcaatat ctacagtaat agtcttgagg ctgttgccag gtctttggga cctgaaaatc
841 tcttgctgaa aggagctacg ctaaaaaata ccgagaagat atatggagtt gctgtttaca
901 ctggaatgga aaccaaaatg gctttgaact accaagggaa atctcagaaa cgttctgctg
961 ttgaaaaatc tattaatgct ttcctgattg tatatttatt tatcttactg accaaagctg
1021 cagtatgcac tactctaaag tatgtttggc aaagtacccc atacaatgat gaaccttggt
1081 ataaccaaaa gactcagaaa gagcgagaga ccttgaaggt tttaaaaatg ttcaccgact
1141 tcctatcatt tatggttcta ttcaacttta tcattcctgt ctccatgtac gtcacagtag
1201 aaatgcagaa attcttgggc tccttcttca tctcatggga taaggacttt tatgatgaag
1261 aaattaatga aggagccctg gttaacacat cagaccttaa tgaagaactt ggtcaggtgg
1321 attatgtatt tacagataag actggaacac tcactgaaaa cagcatggaa ttcattgaat
1381 gctgcataga tggccacaaa tataaaggtg taactcaaga ggttgatgga ttatctcaaa
1441 ctgatggaac tttaacatat tttgacaaag tagataagaa tcgagaagag ctgtttctac
1501 gtgccttgtg tttatgtcat actgtagaaa tcaaaacaaa cgatgctgtt gatggagcta
1561 cagaatcagc tgaattaacc tatatctcct cttcaccaga tgaaatagct ttggtgaaag
1621 gagctaaaag gtacgggttc acatttttag gaaatcgaaa tggatatatg agagtagaga
1681 accaaagaaa agaaatagaa gaatatgaac ttcttcacac cttaaacttt gatgctgtcc
1741 ggcgacgtat gagtgtaatt gtgaagactc aagaaggaga catacttctc ttttgtaaag
1801 gagcagactc ggcagttttt cccagagtgc aaaatcatga aattgagtta actaaagtcc
1861 atgtggaacg taatgcaatg gatgggtatc ggacactctg tgtagccttc aaagaaattg
1921 ctccagatga ttatgaaaga attaacagac agctcataga ggcaaaaatg gccttacaag
1981 acagagaaga aaaaatggaa aaagttttcg atgatattga gacaaacatg aatttaattg
2041 gagccactgc agttgaagac aagctacaag atcaagctgc agagaccatt gaagctctgc
2101 atgcagcagg cctgaaagtc tgggtgctca ctggggacaa gatggagaca gctaaatcca
2161 catgctatgc ctgccgcctt ttccagacca acactgagct cttagaacta accacaaaaa
2221 ccattgaaga aagtgaaagg aaagaagatc gattacatga attattgata gaatatcgca
2281 agaaattgct gcatgagttt cctaaaagta ctagaagctt taaaaaagca tggacagaac
2341 atcaggaata tggattaatc atagatggct ccacattgtc actcatacta aattctagtc
2401 aagactctag ttcaaacaat tacaaaagca ttttcctaca aatatgtatg aagtgtactg
2461 cagtgctctg ctgtcggatg gcaccattac agaaagccca gattgtcaga atggtgaaga
2521 atttaaaagg cagcccaata actctgtcga taggtgatgg tgccaatgat gttagtatga
2581 tcttggaatc ccatgtggga ataggtatta aaggcaaaga aggtcgccaa gcagctagga
2641 atagcgatta ttctgttcca aagtttaaac acttaaagaa actgctgttg gctcatggac
2701 atctatatta tgtgagaata gcacaccttg tacagtactt cttctataag aacctttgtt
2761 tcattttgcc acagtttttg taccagttct tctgtggatt ctcacaacag ccactgtatg
2821 atgctgctta ccttacaatg tacaatatct gcttcacatc cttgcccatc ctggcctata
2881 gtctactgga acagcacatc aacattgaca ctctgacctc agatccccga ttgtatatga
2941 aaatttctgg caatgccatg ctacagttgg gccccttctt atattggaca tttctggctg
3001 cctttgaagg gacagtgttc ttctttggga cttactttct ttttcagact gcatccctag
3061 aagaaaatgg aaaggtatac ggaaactgga cttttggaac cattgttttt acagtcttag
3121 tattcactgt aaccctgaag cttgccttgg atacccgatt ctggacgtgg ataaatcact
3181 ttgtgatttg gggttcttta gccttctatg tatttttctc attcttctgg ggaggaatta
3241 tttggccttt tctcaagcaa cagagaatgt attttgtatt tgcccaaatg ctgtcttctg
3301 tatccacatg gttggctata attcttctaa tatttatcag cctgttccct gagattcttc
3361 tgatagtatt aaagaatgta agaagaagaa gtgccaggaa tccgaatctt gaactgccta
3421 tgttattgtc ctacaagcat actgacagtg gttacagcta aaaaagaaag catgaagaaa
3481 caactacaaa aagttatcat ctcaggatac ttgatatgca acacactaaa ccactctcat
3541 gtctagagtt cacaataaat gttcattaaa ataccaaatg attctcttaa gcatttacca
3601 ttattgtaag tagcctttat ggccaaagct gtaagttaag aattatatga aagttgaaag
3661 caagaatact tagaattctg gctttagtta gagtaatata actcaaatgg gtgctctttt
3721 aacccatgaa ctttgtgaat ggatttaaat acaatagtat gaagtagaag ttatgcaatg
3781 agaatgaata gattttgcta atactacttt ttttgcctgg cagaagaaat agactatttg
3841 gatcacattt ctcattcctc ctaaatgatc atcttaattt tttttcccaa gtacataagg
3901 aatacttgaa aatacagaat aactaaatag tatcaatgca tcagacagaa tagttaatcc
3961 cttctgttta cccatgtgct actaatgtct tggtagaata ttcttgccaa aaaaatacct
4021 tgaacgctta tgtggaaagt gttaacttac gggtattttt gtgggaatag aaaaaaattg
4081 tttatttttt attcttctga attaaacccc acttatgggt gtaagcctac tagacttgaa
4141 aataaagtat aaaacatttc caatcactta gtagcccctc aaagtagtta gaaaataaac
4201 agatttttcc agtgttgatt ttactgggat ctgcagtaag gtggtttaaa ccatagttat
4261 ataaaaataa aggtcattct gaatatcagc cttttataat tttatgtgaa gaggaagaaa
4321 tatagcttat tttaaacttt tgacggtttt tatttgaaag agattgcatt tatgcatata
4381 tgcagtgctt tttcttaaac ttggccaatt tggaaagggg gaaggagcca ccccaaaacg
4441 gtggttcagc ttgtagagcc atgactctgt gaagatgaat gttgtctctt aacttggaca
4501 gggaaatggt ctaactctaa accatgtaac tgaccttagt aaagtccttg actaactgaa
4561 ctagaaggaa ggtttagcct tctaattagt tcacttgaaa cataaatgtg aaatgtcttc
4621 attcaatgtt aaacacatac ttttttggat ataaatgacc atatttattt gactgctagt
4681 ttttttgttt tttttttgtc tttctggcat gcctgtacta ttattaatgt ttatattgta
4741 ccttgatttg gaaaagtatt ggagttaatc tgtattatat ttatatagtc catatggcac
4801 atttgattct tccacatata ttttgtgtta atgtttaggt atgatttttt tctaaattct
4861 agaaaagaac ataatttcag ttatcagaag ccattccatc attatagacc ctttttcatt
4921 atttcatttg ctctcatata tcagtattat ttttgagcat tttgttacat gtcattcaca
4981 acttacctaa gtgtgctgtg ttctggtagc ccgtatttga ggtaagctgc tgaaaacaaa
5041 agtctctata ttctttgcct attccaaaga gctaaaaaag tctaacccag gaaagctttt
5101 gatattttgt gtttgttttc ttgttcttat ggttgttgtt gctgtattat gattgctgtt
5161 ttacataaaa tctatgggaa ctgtgaatac agacaagaga gccacagtag agaggcttgt
5221 ttaatgcagt accattggag agttaacaga ataatctagt agaaaaataa ctggttgcat
5281 gtaaaattcc ttccagccag aaagaaagaa agacaaggag taagggggat ttagagttat
5341 gtctcagcta cacattacat tgtgatactg cagctcaaat tcagaatggc aatgatacat
5401 gatatcatgg cctagattcc ttgagaggga cctggctttc ctttttaaaa gatattttac
5461 tgaagagcta aaaactggcc agtgtggggt tagcagatcg aataacttga aatagaccgt
5521 gcagtattcc tagcactcaa tgtaatcacc ctatttgtga cagagaaagg gaaaaaaata
5581 taataagatc atctacctat aatttgaata attttgagct atcaaaatgt ctttgtaatt
5641 ttcacaaccg ctgtccattg tttgaggatg ttacctacta aactgaaaac attcattcca
5701 tatctactta cacatacacc agcaacagta taaatgtaag cctaactttg caaaattcgt
5761 aataatttag tgatggaatt ttttaataac atgcagtata taaatgtgca gattttatgc
5821 gtgttgacaa aatcattttt cagcttgcaa aatgggactg caatattaca tttttcactt
5881 aagcagtttt ttacatctac gttgttgctt tctaaaatga atgtgaatgc catcttttat
5941 gactgcaact tgccttttcc attacagaaa tttttgtttg atgtaatcaa taaactttgg
6001 tatgatatga ttg
//