LOCUS X02994 1498 bp mRNA linear HUM 14-NOV-2006
DEFINITION Human mRNA for adenosine deaminase (adenosine aminohydrolase, EC
3.5.4.4).
ACCESSION X02994 K00509 K02567 M11816-M11826 X00427
VERSION X02994.1
KEYWORDS adenosine deaminase; deaminase; hydrolase.
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 1498)
AUTHORS Daddona P.E., Shewach D.S., Kelley W.N., Argos P., Markham A.F.,
Orkin S.H.
TITLE Human adenosine deaminase. cDNA and complete primary amino acid
sequence
JOURNAL J Biol Chem 259(19), 12101-12106(1984).
PUBMED 6090454
REFERENCE 2
AUTHORS Orkin S.H., Goff S.C., Kelley W.N., Daddona P.E.
TITLE Transient expression of human adenosine deaminase cDNAs:
identification of a nonfunctional clone resulting from a single
amino acid substitution
JOURNAL Mol. Cell. Biol. 5(4), 762-767(1985).
PUBMED 3838797
REFERENCE 3
AUTHORS Valerio D., Duyvesteyn M.G., Dekker B.M., Weeda G., Berkvens T.M.,
der Vorn L., Van ormondt H., der Eb A.J.
TITLE Adenosine deaminase: characterization and expression of a gene with
a remarkable promoter
JOURNAL EMBO J. 4(2), 437-443(1985).
PUBMED 3839456
REFERENCE 4
AUTHORS Wiginton D.A., Adrian G.S., Hutton J.J.
TITLE Sequence of human adenosine deaminase cDNA including the coding
region and a small intron
JOURNAL Nucleic Acids Res. 12(5), 2439-2446(1984).
PUBMED 6546794
REFERENCE 5
AUTHORS Valerio D., McIvor R.S., Williams S.R., Duyvesteyn M.G.,
Van ormondt H., der Eb A.J., Martin D.W.Jr.
TITLE Cloning of human adenosine deaminase cDNA and expression in mouse
cells
JOURNAL Gene 31(1-3), 147-153(1984).
PUBMED 6526272
REFERENCE 6
AUTHORS Bonthron D.T., Markham A.F., Ginsburg D., Orkin S.H.
TITLE Identification of a point mutation in the adenosine deaminase gene
responsible for immunodeficiency
JOURNAL J. Clin. Invest. 76(2), 894-897(1985).
PUBMED 3839802
REFERENCE 7
AUTHORS Adrian G.S., Wiginton D.A., Hutton J.J.
TITLE Structure of adenosine deaminase mRNAs from normal and adenosine
deaminase-deficient human cell lines
JOURNAL Mol. Cell. Biol. 4(9), 1712-1717(1984).
PUBMED 6208479
REFERENCE 8 (bases 1 to 1498)
AUTHORS Van ormondt H.
JOURNAL Submitted (13-JUN-1985) to the INSDC.
COMMENT Sequence HSADAR is identical to that published in ref. [3], with
two exceptions:
1) the two 3'-terminal nucleotides were derived from ref. [1]
2) in [3] nt 72-73 were erroneously given as GA; this has now
been corrected to AG, in agreement with [1] and [4].
Ref [6] discusses polymorphisms and summarizes them in a table,
which is reproduced here in an adapted and extended form:
Summary of sequence polymorphisms identified in the ADA cDNA.
Position (numbering of HSADAR)
42 C A A A A A A
287 G G A A G G G
334 A A A A A A G
368 C C C T C C C
397 G G G G A G G
485 G A G G G G G
629 G G A A G G G
1006 T T T T T T G
1483 G A A A A A A
Clone ADA33 ADA211 ADA1a 1715 2471
Ref. [7] [7] [1] [6] [6] [3] [8]
Cell lines 1715 and 2471 are adenosine-deaminase-deficient and
were derived from patients.
The authors [6] assume that the mutation at position 397 (arg
to gin) inactivates the enzyme, since it is the only polymorphism
in 1715 cDNA which leads to an amino acid change.
Valerio et al. [8] show that the mutation at nt 334 in cell line
2471 (lys to arg) is a functionally neutral polymorphism, and
that the mutation at nt 1006 (leu to arg) inactivates the enzyme.
Orkin et al. [2] report a cDNA clone in which residue G247 in the
below sequence was changed into T. The resulting gly->val change
leads to the inactivation of the encoded protein.
Differences with HSADA3 (Wiginton et al. [4]) are the following:
HSADAR HSADA3
A42 C7 (Xma3 site in HSADA3)
773-774 76-bp insert
Sequencing of genomic DNA [3] showed that this 76-bp insert
presumed to be an intron in an incompletely processed mRNA
actually is one.
C84 missing
A1483 G1523 (Nco1 site in HSADA4)
FEATURES Location/Qualifiers
source 1..1498
/db_xref="H-InvDB:HIT000320956"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
exon 1..128
/number=1
misc_RNA 1..1
/note="cap site"
exon 4..128
/number=1
/note="alternate"
misc_RNA 4..4
/note="cap site (alternate)"
CDS 96..1187
/product="adenosine deaminase"
/EC_number="3.5.4.4"
/db_xref="GOA:P00813"
/db_xref="H-InvDB:HIT000320956.12"
/db_xref="HGNC:HGNC:186"
/db_xref="InterPro:IPR001365"
/db_xref="InterPro:IPR006330"
/db_xref="InterPro:IPR006650"
/db_xref="InterPro:IPR028893"
/db_xref="InterPro:IPR032466"
/db_xref="PDB:1M7M"
/db_xref="PDB:3IAR"
/db_xref="UniProtKB/Swiss-Prot:P00813"
/protein_id="CAA26734.1"
/translation="MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAE
GLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIKRIAYEFVEMKAKEGVVYVEVRY
SPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPN
WSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQEAVKSGIHRTVHAGEV
GSAEVVKEAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDT
EHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSF
LPEDEKRELLDLLYKAYGMPPSASAGQNL"
exon 129..190
/number=2
exon 191..313
/number=3
exon 314..457
/number=4
exon 458..573
/number=5
exon 574..701
/number=6
exon 702..773
/number=7
exon 774..875
/number=8
exon 876..940
/number=9
exon 941..1070
/number=10
exon 1071..1173
/number=11
exon 1174..1498
/number=12
regulatory 1470..1475
/regulatory_class="polyA_signal_sequence"
polyA_site 1498
BASE COUNT 361 a 438 c 421 g 278 t
ORIGIN
1 accgctggcc ccagggaaag ccgagcggcc accgagccgg cagagaccca ccgagcggcg
61 gcggagggag cagcgccggg gcgcacgagg gcaccatggc ccagacgccc gccttcgaca
121 agcccaaagt agaactgcat gtccacctag acggatccat caagcctgaa accatcttat
181 actatggcag gaggagaggg atcgccctcc cagctaacac agcagagggg ctgctgaacg
241 tcattggcat ggacaagccg ctcacccttc cagacttcct ggccaagttt gactactaca
301 tgcctgctat cgcgggctgc cgggaggcta tcaaaaggat cgcctatgag tttgtagaga
361 tgaaggccaa agagggcgtg gtgtatgtgg aggtgcggta cagtccgcac ctgctggcca
421 actccaaagt ggagccaatc ccctggaacc aggctgaagg ggacctcacc ccagacgagg
481 tggtggccct agtgggccag ggcctgcagg agggggagcg agacttcggg gtcaaggccc
541 ggtccatcct gtgctgcatg cgccaccagc ccaactggtc ccccaaggtg gtggagctgt
601 gtaagaagta ccagcagcag accgtggtgg ccattgacct ggctggagat gagaccatcc
661 caggaagcag cctcttgcct ggacatgtcc aggcctacca ggaggctgtg aagagcggca
721 ttcaccgtac tgtccacgcc ggggaggtgg gctcggccga agtagtaaaa gaggctgtgg
781 acatactcaa gacagagcgg ctgggacacg gctaccacac cctggaagac caggcccttt
841 ataacaggct gcggcaggaa aacatgcact tcgagatctg cccctggtcc agctacctca
901 ctggtgcctg gaagccggac acggagcatg cagtcattcg gctcaaaaat gaccaggcta
961 actactcgct caacacagat gacccgctca tcttcaagtc caccctggac actgattacc
1021 agatgaccaa acgggacatg ggctttactg aagaggagtt taaaaggctg aacatcaatg
1081 cggccaaatc tagtttcctc ccagaagatg aaaagaggga gcttctcgac ctgctctata
1141 aagcctatgg gatgccacct tcagcctctg cagggcagaa cctctgaaga cgccactcct
1201 ccaagccttc accctgtgga gtcaccccaa ctctgtgggg ctgagcaaca tttttacatt
1261 tattccttcc aagaagacca tgatctcaat agtcagttac tgatgctcct gaaccctatg
1321 tgtccatttc tgcacacacg tatacctcgg catggccgcg tcacttctct gattatgtgc
1381 cctggccagg gaccagcgcc cttgcacatg ggcatggttg aatctgaaac cctccttctg
1441 tggcaacttg tactgaaaat ctggtgctca ataaagaagc ccatggctgg tggcatgc
//