GenBank-Updates@genbank.bio.net (09/05/90)
LOCUS HUMELIA 2867 bp ss-mRNA PRI 05-SEP-1990
DEFINITION Human structural protein 4.1 mRNA, complete cds.
ACCESSION M14993
KEYWORDS protein 4.1.
SOURCE Human reticulocyte, cDNA to mRNA, clones lambda-HE 4.1-8, lambda-HE
4.1-6, and lambda-HE 4.1-A.
ORGANISM Homo sapiens
Eukaryota; Animalia; Metazoa; Chordata; Vertebrata; Mammalia;
Theria; Eutheria; Primates; Haplorhini; Catarrhini; Hominidae.
REFERENCE 1 (bases 1 to 2867)
AUTHORS Conboy,J., Kan,Y.W., Shohet,S.B. and Mohandas,N.
TITLE Molecular cloning of protein 4.1, a major structural element of the
human erythrocyte membrane skeleton
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 83, 9512-9516 (1986)
STANDARD simple staff_review
REFERENCE 2 (sites; insertions and duplications causing elliptocytosis)
AUTHORS Conboy,J., Marchesi,S., Kim,R., Agre,P., Kan,Y.W. and Mohandas,N.
TITLE Molecular analysis of insertion/deletion mutations in protein 4.1
in elliptocytosis; Determination of Molecular genetic origins of
rearrangements
JOURNAL J. Clin. Invest. 86, 524-530 (1990)
STANDARD simple staff_review
FEATURES from to/span description
pept 799 2565 4.1 protein
mut 2016 2017 duplication insertion of nucleotides 2217-2585
causing elliptocytosis [2]
mut 2017 2256 deletion causing elliptocytosis [2]
BASE COUNT 932 a 620 c 657 g 658 t
ORIGIN 218 bp upstream of PvuII site.
1 tcccgtggag cagaggggca aagtggcagg aacctcttaa agggcgagac gggcggcgac
61 cgagaacgcg gtcggcccgg tccccgccgc acccagccca gagaagagtt tagtgactga
121 ggccgaaaat tcacagcacc aacagaagga agagggtgag gaagccataa actcaggcca
181 acaagaacct cagcaggagg aatcttgtca aacagcagct gaaggagata attggtgtga
241 acacaaggtg aaagcttcta atggagacac tcctacacat gaagacttga ccaagaacaa
301 ggagcggaca tcagaaagca gaggactttc acgactattc tcctcgtttc tcaaaaggcc
361 caaatctcag gtgtccgagg aagaaggcaa agaagtagag tcagataaag aaaaaggtga
421 aggaggtcag aaagagatag aatttggaac cagtcttgat gaagagatca ttttaaaggc
481 cccaattgca gctcctgaac cggaactcaa aacagaccca tctttggatc ttcattcatt
541 aagcagtgca gaaacacagc ctcaccatta caattaagaa ttatttttag agtcttctta
601 tttctgaagc atgtgaatat tatctcgatc gttaaaagtc ctgctcagga agaactcaga
661 gaagatccag attctgaaat taaggaagga gaaggacttg aagagtgctc caaaatagaa
721 gtaaaagaag aaagccctca atcaaaagca gaaacagaat taaaagcttc ccaaaaacca
781 atcagaaaac acaggaacat gcactgcaag gtttctttgt tggatgacac agtttatgaa
841 tgtgttgtgg agaaacatgc taagggacaa gatttgctta aacgagtatg tgagcatctc
901 aatcttttgg aagaagacta ttttggtcta gccatttggg ataacgcaac ctctaagaca
961 tggctggatt ccgccaaaga aataaaaaag caggttcgtg gtgtcccttg gaattttaca
1021 tttaatgtaa agttttatcc acctgaccca gcacagttaa cagaagacat aacaagatat
1081 tatttatgtc ttcagcttcg gcaggacata gttgcaggac gtctgccctg ttcctttgca
1141 accttagcat tattaggttc ttacaccatc cagtctgaac tgggagacta cgacccagaa
1201 ctccatggcg tggattatgt tagtgatttt aaactggccc cgaatcagac caaggaactt
1261 gaagagaagg tcatggaact gcataagtca tacaggtcca tgactccagc tcaggctgac
1321 ttggagtttc ttgagaatgc caaaaagttg tctatgtatg gagttgatct tcataaagca
1381 aaggacttgg aaggagtaga tatcatccta ggtgtctgct ctagtggcct tctggtttac
1441 aaagataagc tgagaattaa ccgcttccct tggcccaaag tgctgaagat ttcttataaa
1501 cgtagtagct ttttcatcaa gattcggcct ggagagcaag agcagtatga aagtaccatc
1561 ggattcaaac ttcccagtta ccgagcagct aagaaattat ggaaagtctg tgtagaacat
1621 cacacgtttt tcagattgac atctacagac accattccca aaagcaaatt tcttgcgcta
1681 ggatccaaat ttcgatacag tggccggact caagctcaga ccaggcaagc tagtgctcta
1741 attgacaggc ctgccccaca cttcgagcgt acagcaagta aacgggcgtc ccggagcctc
1801 gatggagcag cagctgtcga ttcggcagac cgaagtcctc ggcccacttc tgcacctgcc
1861 attactcagg gtcaggttgc agaaggtggc gtcctagatg cctctgctaa aaaaacagtg
1921 gtccctaaag cacagaagga aacagtgaag gctgaagtga aaaaggaaga cgagccacct
1981 gagcaagctg agccagagcc cacagaagca tggaagaaaa agagagaaag actagatggt
2041 gaaaacattt atatcagaca tagcaattta atgttggagg atttagacaa gagtcaagag
2101 gagatcaaaa aacatcatgc cagcatcagt gagctgaaaa agaacttcat ggagtctgta
2161 ccagaaccac ggcctagtga atgggataaa cgcttatcca ctcactcacc cttccgaact
2221 cttaacatca atgggcaaat ccccacagga gaaggacctc ccctggtgaa gacacaaact
2281 gtcaccatct cagataatgc caatgctgtg aaaagtgaaa tcccaaccaa agacgtccct
2341 attgtccaca ctgagaccaa gaccatcact tatgaggctg cccagactgt aaaaggtggg
2401 atttcagaga cacgtattga aaagagaatt gtgatcacag gagatgctga tattgaccat
2461 gatcaggtcc ttgtacaagc catcaaggag gcaaaggagc agcacccaga catgtcagtg
2521 accaaggtgg tcgtccacca ggagaccgag attgctgatg agtgagctca ggaactaacc
2581 taccccaact ctgcccttct cccatccaag agaaaccacg aaaatgataa agaagctaac
2641 ctgccatagt cagacttcag actttcaaga ttattctaaa tcaccagaaa attaatttca
2701 gtttctattg ggagtttata ccaagagatt cttctagatc tcattgatcc ttttgaagag
2761 ctttttctat attaggatat cagaattgtt caacttttca ctctatagac tgttttaaga
2821 gttttggggg gtttttaatt gggtggtttg taaccccttc agcctag
//