LOCUS AF181120 3637 bp mRNA linear HUM 20-JAN-2000
DEFINITION Homo sapiens chromosome 3 ATP-dependent Ca2+ pump PMR1 (ATP2C1)
mRNA, complete cds.
ACCESSION AF181120
VERSION AF181120.1
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 3637)
AUTHORS Hu,Z., Bonifas,J.M., Beech,J., Bench,G., Shigihara,T., Ogawa,H.,
Ikeda,S., Mauro,T. and Epstein,E.H. Jr.
TITLE Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey
disease
JOURNAL Nat. Genet. 24 (1), 61-65 (2000)
PUBMED 10615129
REFERENCE 2 (bases 1 to 3637)
AUTHORS Hu,Z., Bonifas,J.M., Beech,J., Bench,G., Mauro,T. and Epstein,E.H.
TITLE Direct Submission
JOURNAL Submitted (26-AUG-1999) Dermatology, San Francisco General
Hospital, University of California, San Francisco, Rm. 269, Bldg.
100, 1001 Potrero Street, San Francisco, CA 94110, USA
FEATURES Location/Qualifiers
source 1..3637
/db_xref="H-InvDB:HIT000072809"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="3"
/map="3q21-24"
gene 1..3637
/gene="ATP2C1"
CDS 236..2995
/gene="ATP2C1"
/note="Ca2+ transporting ATPase"
/codon_start=1
/product="ATP-dependent Ca2+ pump PMR1"
/protein_id="AAF26295.1"
/translation="MKVARFQKIPNGENETMIPVLTSKKASELPVSEVASILQADLQN
GLNKCEVSHRRAFHGWNKFDISEDEPLWKKYISQFKNPLIMLLLASAVISVLMHQFDD
AVSITVAILIVVTVAFVQEYRSEKSLEELSKLVPPECHCVREGKLEHTLARDLVPGDT
VCLSVGDRVPADLRLFEAVDLSIDESSLTGETTPCSKVTAPQPAATNGDLASRSNIAF
MGTLVRCGKAKGVVIGTGENSEFGEVFKMMQAEEAPKTPLQKSMDLLGKQLSFYSFGI
IGIIMLVGWLLGKDILEMFTISVSLAVAAIPEGLPIVVTVTLALGVMRMVKKRAIVKK
LPIVETLGCCNVICSDKTGTLTKNEMTVTHIFTSDGLHTEVTGVGYNQFGEVIVDGDV
VHGFYNPAVSRIVEAGCVCNDAVIRNNTLMGKPTEGALIALAMKMGLDGLQQDYIRKA
EYPFSSEQKWMAVKCVHRTQQDRPEICFMKGAYEQVIKYCTTYQSKGQTLTLTQQQRD
VYQQEKARMGSAGLRVLALASGPELGQLTFLGLVGIIDPPRTGVKEAVTTLIASGVSI
KMITGDSQETAVAIASRLGLYSKTSQSVSGEEIDAMDVQQLSQIVPKVAVFYRASPRH
KMKIIKSLQKNGSVVAMTGDGVNDAVALKAADIGVAMGQTGTDVCKEAADMILVDDDF
QTIMSAIEEGKGIYNNIKNFVRFQLSTSIAALTLISLATLMNFPNPLNAMQILWINII
MDGPPAQSLGVEPVDKDVIRKPPRNWKDSILTKNLILKILVSSIIIVCGTLFVFWREL
RDNVITPRDTTMTFTCFVFFDMFNALSSRSQTKSVFEIGLCSNRMFCYAVLGSIMGQL
LVIYFPPLQKVFQTESLSILDLLFLLGLTSSVCIVAEIIKKVERSREKIQKHVSSTSS
SFLEV"
BASE COUNT 1040 a 662 c 828 g 1107 t
ORIGIN
1 gggaactcct tcctcagcct ctcgtcagcg ccgcttctcc tggtttctct tgcagatgct
61 gctgctaggg gtggtgggag cagccgtggg acgcgtggcc gggagcgggg gtgacagcct
121 gggattccgg gggcttctct tccttgtcct cctcctctcc tctctattcc cagtgtggcc
181 gtggctgaca ctaaagactt tgtagccatc aacccgagtg cagtttcgat ggaaaatgaa
241 ggttgcacgt tttcaaaaaa tacctaatgg tgaaaatgag acaatgattc ctgtattgac
301 atcaaaaaaa gcaagtgaat taccagtcag tgaagttgca agcattctcc aagctgatct
361 tcagaatggt ctaaacaaat gtgaagttag tcataggcga gcctttcatg gctggaataa
421 gtttgatatt agtgaagatg agccactgtg gaagaagtat atttctcagt ttaaaaatcc
481 ccttattatg ctgcttctgg cttctgcagt catcagtgtt ttaatgcatc agtttgatga
541 tgccgtcagt atcactgtgg caatacttat cgttgttaca gttgcctttg ttcaggaata
601 tcgttcagaa aaatctcttg aagaattgag taaacttgtg ccaccagaat gccattgtgt
661 gcgtgaagga aaattggagc atacacttgc ccgagacttg gttccaggtg atacagtttg
721 cctttctgtt ggggatagag ttcctgctga cttacgcttg tttgaggctg tggatctttc
781 cattgatgag tccagcttga caggtgagac aacgccttgt tctaaggtga cagctcctca
841 gccagctgca actaatggag atcttgcatc gagaagtaac attgccttta tgggaacact
901 ggtcagatgt ggcaaagcaa agggtgttgt cattggaaca ggagaaaatt ctgaatttgg
961 ggaggttttt aaaatgatgc aagcagaaga ggcaccaaaa acccctctgc agaagagcat
1021 ggacctctta ggaaaacaac tttcctttta ctcctttggt ataataggaa tcatcatgtt
1081 ggttggctgg ttactgggaa aagatatcct ggaaatgttt actattagtg taagtttggc
1141 tgtagcagca attcctgaag gtctccccat tgtggtcaca gtgacgctag ctcttggtgt
1201 tatgagaatg gtgaagaaaa gggccattgt gaaaaagctg cctattgttg aaactctggg
1261 ctgctgtaat gtgatttgtt cagataaaac tggaacactg acgaagaatg aaatgactgt
1321 tactcacata tttacttcag atggtctgca tactgaggtt actggagttg gctataatca
1381 atttggggaa gtgattgttg atggtgatgt tgttcatgga ttctataacc cagctgttag
1441 cagaattgtt gaggcgggct gtgtgtgcaa tgatgctgta attagaaaca atactctaat
1501 ggggaagcca acagaagggg ccttaattgc tcttgcaatg aagatgggtc ttgatggact
1561 tcaacaagac tacatcagaa aagctgaata cccttttagc tctgagcaaa agtggatggc
1621 tgttaagtgt gtacaccgaa cacagcagga cagaccagag atttgtttta tgaaaggtgc
1681 ttacgaacaa gtaattaagt actgtactac ataccagagc aaagggcaga ccttgacact
1741 tactcagcag cagagagatg tgtaccaaca agagaaggca cgcatgggct cagcgggact
1801 cagagttctt gctttggctt ctggtcctga actgggacag ctgacatttc ttggcttggt
1861 gggaatcatt gatccaccta gaactggtgt gaaagaagct gttacaacac tcattgcctc
1921 aggagtatca ataaaaatga ttactggaga ttcacaggag actgcagttg caatcgccag
1981 tcgtctggga ttgtattcca aaacttccca gtcagtctca ggagaagaaa tagatgcaat
2041 ggatgttcag cagctttcac aaatagtacc aaaggttgca gtattttaca gagctagccc
2101 aaggcacaag atgaaaatta ttaagtcgct acagaagaac ggttcagttg tagccatgac
2161 aggagatgga gtaaatgatg cagttgctct gaaggctgca gacattggag ttgcgatggg
2221 ccagactggt acagatgttt gcaaagaggc agcagacatg atcctagtgg atgatgattt
2281 tcaaaccata atgtctgcaa tcgaagaggg taaagggatt tataataaca ttaaaaattt
2341 cgttagattc cagctgagca cgagtatagc agcattaact ttaatctcat tggctacatt
2401 aatgaacttt cctaatcctc tcaatgccat gcagattttg tggatcaata ttattatgga
2461 tggaccccca gctcagagcc ttggagtaga accagtggat aaagatgtca ttcgtaaacc
2521 tcctcgcaac tggaaagaca gcattttgac taaaaacttg atacttaaaa tacttgtttc
2581 atcaataatc attgtttgtg ggactttgtt tgtcttctgg cgtgagctac gagacaatgt
2641 gattacacct cgagacacaa caatgacctt cacatgcttt gtgttttttg acatgttcaa
2701 tgcactaagt tccagatccc agaccaagtc tgtgtttgag attggactct gcagtaatag
2761 aatgttttgc tatgcagttc ttggatccat catgggacaa ttactagtta tttactttcc
2821 tccgcttcag aaggtttttc agactgagag cctaagcata ctggatctgt tgtttctttt
2881 gggtctcacc tcatcagtgt gcatagtggc agaaattata aagaaggttg aaaggagcag
2941 ggaaaagatc cagaagcatg ttagttcgac atcatcatct tttcttgaag tatgatgcat
3001 attgcattat tttatttgca aactaggaat tgcagtctga ggatcattta gaagggcaag
3061 ttcaagagga tatgaagatt tgagaacttt ttaactattc attgactaaa aatgaacatt
3121 aatgttaaag acttaagact ttaacctgct ggcagtccca aatgaaatta tgcaactttg
3181 atatcatatt ccttgattta aattggcttt tgtgattgag tgaaacttta taaagcatat
3241 ggtcagttat ttaattaaaa aggcaaaacc tgaaccacct tctgcactta aagaagtcta
3301 acagtacaaa tacactatct atcttagata gatatatttt tttttatttt taaatattgt
3361 actatttatg gtggtggggc tttcttacta atacacaaat aaatttaatc atttcaaagg
3421 cattctattt ggtttagaag ttgattccca ggagtgccat atttcagcta ctgtatttcc
3481 tttttcttgt aatgtaagca gctcagatac catgtgctat catttttgta tcaagttttt
3541 tgcacaggat gtgaccactg tcagatcact gttcttttct ttctttttgt gattgaaaag
3601 cctatactac aatttgaagt aaatttttgt ttttctt
//