LOCUS HUMELIA 2867 bp mRNA linear HUM 27-APR-1993 DEFINITION Human structural protein 4.1 mRNA, complete cds. ACCESSION M14993 VERSION M14993.1 KEYWORDS protein 4.1. 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 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 (24), 9512-9516 (1986) PUBMED 3467321 REFERENCE 2 (sites) 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. II. Determination of molecular genetic origins of rearrangements JOURNAL J. Clin. Invest. 86 (2), 524-530 (1990) PUBMED 2384598 COMMENT Original source text: Human reticulocyte, cDNA to mRNA, clones lambda-HE 4.1-8, lambda-HE 4.1-6, and lambda-HE 4.1-A. [2] sites; insertions and duplications causing elliptocytosis. FEATURES Location/Qualifiers source 1..2867 /db_xref="H-InvDB:HIT000194369" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" CDS 799..2565 /note="4.1 protein" /codon_start=1 /protein_id="AAA35795.1" /translation="MHCKVSLLDDTVYECVVEKHAKGQDLLKRVCEHLNLLEEDYFGL AIWDNATSKTWLDSAKEIKKQVRGVPWNFTFNVKFYPPDPAQLTEDITRYYLCLQLRQ DIVAGRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQTKELEEKVME LHKSYRSMTPAQADLEFLENAKKLSMYGVDLHKAKDLEGVDIILGVCSSGLLVYKDKL RINRFPWPKVLKISYKRSSFFIKIRPGEQEQYESTIGFKLPSYRAAKKLWKVCVEHHT FFRLTSTDTIPKSKFLALGSKFRYSGRTQAQTRQASALIDRPAPHFERTASKRASRSL DGAAAVDSADRSPRPTSAPAITQGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKEDE PPEQAEPEPTEAWKKKRERLDGENIYIRHSNLMLEDLDKSQEEIKKHHASISELKKNF MESVPEPRPSEWDKRLSTHSPFRTLNINGQIPTGEGPPLVKTQTVTISDNANAVKSEI PTKDVPIVHTETKTITYEAAQTVKGGISETRIEKRIVITGDADIDHDQVLVQAIKEAK EQHPDMSVTKVVVHQETEIADE" variation 2016..2017 /note="duplication insertion of nucleotides 2217-2585 causing elliptocytosis [2]" variation 2017..2256 /note="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 //