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
//