LOCUS HUMSLP 1879 bp mRNA linear HUM 08-AUG-1995
DEFINITION Human sialophorin (CD43) mRNA, complete cds.
ACCESSION J04536
VERSION J04536.1
KEYWORDS CD43 antigen; LSGP; gpL115; leukosialin; mucin-type glycoprotein;
sialophorin; surface sialoglycoprotein; transmembrane glycoprotein.
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 1879)
AUTHORS Shelley,C.S., Remold-O'Donnell,E., Davis,A.E. III, Bruns,G.A.,
Rosen,F.S., Carroll,M.C. and Whitehead,A.S.
TITLE Molecular characterization of sialophorin (CD43), the lymphocyte
surface sialoglycoprotein defective in Wiskott-Aldrich syndrome
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 86 (8), 2819-2823 (1989)
PUBMED 2784859
COMMENT Original source text: Homo sapiens (clone: HPB[1.9,2.5] and
CEM[0.8,1.7].) cDNA to mRNA.
Draft entry and computer-readable sequence for [1] kindly submitted
by C.S.Shelley, 19-APR-1989. Sialophorin is phenotypically
defective in the immunodeficiency Wiskott-Aldrich syndrome, a major
manifestation of which is defective T-cell function. Since
inheritance of Wiskott-Aldrich syndrome is X chromosome-linked, the
localization of the human sialophorin gene to chromosome 16
excludes sialophorin as the primary genetic defect in this disease
and indicates that the X chromosome product is required for normal
surface expression of sialophorin.
FEATURES Location/Qualifiers
source 1..1879
/db_xref="H-InvDB:HIT000191269"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/map="16p11.2"
/clone="HPB[1.9,2.5] and CEM[0.8,1.7]."
/cell_line="HPB-ALL; CEM"
/cell_type="lymphoblast"
gene 1..1879
/gene="SPN"
CDS 93..1295
/gene="SPN"
/note="sialophorin precursor"
/codon_start=1
/protein_id="AAB59540.1"
/db_xref="GDB:G00-120-384"
/translation="MATLLLLLGVLVVSPDALGSTTAVQTPTSGEPLVSTSEPLSSKM
YTTSITSDPKADSTGDQTSALPPSTSINEGSPLWTSIGASTGSPLPEPTTYQEVSIKM
SSVPQETPHATSHPAVPITANSLGSHTVTGGTITTNSPETSSRTSGAPVTTAASSLET
SRGTSGPPLTMATVSLETSKGTSGPPVTMATDSLETSTGTTGPPVTMTTGSLEPSSGA
SGPQVSSVKLSTMMSPTTSTNASTVPFRNPDENSRGMLPVAVLVALLAVIVLVALLLL
WRRRQKRRTGALVLSRGGKRNGVVDAWAGPAQVPEEGAVTVTVGGSGGDKGSGFPDGE
GSSRRPTLTTFFGRRKSRQGSLAMEELKSGSGPSLKGEEEPLVASEDGAVDAPAPDEP
EGGDGAAP"
sig_peptide 93..161
/gene="SPN"
/note="sialophorin signal peptide A (put.alt.); putative"
sig_peptide 93..149
/gene="SPN"
/note="sialophorin signal peptide (put.alt.); putative"
mat_peptide 150..1292
/gene="SPN"
/product="sialophorin (alt.)"
mat_peptide 162..1292
/gene="SPN"
/product="sialophorin A (alt.)"
variation 971
/gene="SPN"
/note="t in HPB-ALL; c in CEM"
/replace="c"
variation 1431..1433
/gene="SPN"
/note="ttc in HPB1.9; tc in HPB2.5"
/replace="tc"
variation 1448..1450
/gene="SPN"
/note="ttc in HPB1.9; tttc in HPB2.5"
/replace="tttc"
variation 1476
/gene="SPN"
/note="a in HPB1.9; g in HPB2.5"
/replace="g"
variation 1549
/gene="SPN"
/note="a in HPB1.9; g in HPB2.5"
/replace="g"
variation 1553
/gene="SPN"
/note="a in HPB1.9; g in HPB2.5"
/replace="g"
variation 1558
/gene="SPN"
/note="a in HPB1.9; g in HPB2.5"
/replace="g"
BASE COUNT 367 a 622 c 492 g 398 t
ORIGIN
1 gcctcgggag gtggtggagt gacctggccc cagtgctgcg tccttatcag ccgagccggt
61 cccagctctt gctcctgcct gtttgcctgg aaatggccac gcttctcctt ctccttgggg
121 tgctggtggt aagcccagac gctctgggga gcacaacagc agtgcagaca cccacctccg
181 gagagccttt ggtctctact agcgagcccc tgagctcaaa gatgtacacc acttcaataa
241 caagtgaccc taaggccgac agcactgggg accagacctc agccctacct ccctcaactt
301 ccatcaatga gggatcccct ctttggactt ccattggtgc cagcactggt tcccctttac
361 ctgagccaac aacctaccag gaagtttcca tcaagatgtc atcagtgccc caggaaaccc
421 ctcatgcaac cagtcatcct gctgttccca taacagcaaa ctctctagga tcccacaccg
481 tgacaggtgg aaccataaca acgaactctc cagaaacctc cagtaggacc agtggagccc
541 ctgttaccac ggcagctagc tctctggaga cctccagagg cacctctgga ccccctctta
601 ccatggcaac tgtctctctg gagacttcca aaggcacctc tggaccccct gttaccatgg
661 caactgactc tctggagacc tccactggga ccactggacc ccctgttacc atgacaactg
721 gctctctgga gccctccagc ggggccagtg gaccccaggt ctctagcgta aaactatcta
781 caatgatgtc tccaacgacc tccaccaacg caagcactgt gcccttccgg aacccagatg
841 agaactcacg aggcatgctg ccagtggctg tgcttgtggc cctgctggcg gtcatagtcc
901 tcgtggctct gctcctgctg tggcgccggc ggcagaagcg gcggactggg gccctcgtgc
961 tgagcagagg tggcaagcgt aacggggtgg tggacgcctg ggctgggcca gcccaggtcc
1021 ctgaggaggg ggccgtgaca gtgaccgtgg gagggtccgg gggcgacaag ggctctgggt
1081 tccccgatgg ggaggggtct agccgtcggc ccacgctcac cactttcttt ggcagacgga
1141 agtctcgcca gggctccctg gcgatggagg agctgaagtc tgggtcaggc cccagcctca
1201 aaggggagga ggagccactg gtggccagtg aggatggggc tgtggacgcc ccagctcctg
1261 atgagcccga agggggagac ggggctgccc cttaagtgtc ggtgaatagt gaggctggag
1321 gccggaatct cagccagcct ccagcacctt ccctctcacc atcccactgc cccctcgctc
1381 ccatgtttcc acccggcacc ctgatcctca cccgaatctc cttttttttt ttcttttgag
1441 acagagtttc gctttgtcgc ccaggctgga gtgcaatgca cgatctcagt tcactgcaac
1501 ctctgcctcc taagttcagg cgattctcct gcctcagctt cccgagtaac tgagattaca
1561 ggcacccacc accatgccca gctgcttttt tgtatttttg gtagagatgg ggtttcacca
1621 tgttggctag gctggtctca aactcctgac ctcaggtgat ctacctgcct cagcctccca
1681 aagtgctgag attacagaca tgagcctccg cgccttgcct cctcacccac ctcttcactc
1741 tgaatcctca tgaggcttct cagccctgga tttcctgctg ccatcctcac ccagcaccca
1801 caactagcgc ctgggcaggg cagggctggc acctctcaac gtctgtggac tgaatgaata
1861 aaccctcctc atccacccc
//