true
1991-02-01
2024-01-24
216
DDC_HUMAN
Isolation and characterization of a cDNA clone encoding human aromatic L-amino acid decarboxylase.
Ichinose H.
Kurosawa Y.
Titani K.
Fujita K.
Nagatsu T.
doi:10.1016/0006-291x(89)91772-5
1989
Biochem. Biophys. Res. Commun.
164
1024-1030
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
VARIANT VAL-17
Pheochromocytoma
Human dopa decarboxylase: localization to human chromosome 7p11 and characterization of hepatic cDNAs.
Scherer L.J.
McPherson J.D.
Wasmuth J.J.
Marsh L.J.
doi:10.1016/0888-7543(92)90275-w
1992
Genomics
13
469-471
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
VARIANT VAL-17
Molecular cloning of genomic DNA and chromosomal assignment of the gene for human aromatic L-amino acid decarboxylase, the enzyme for catecholamine and serotonin biosynthesis.
Sumi-Ichinose C.
Ichinose H.
Takahashi E.
Hori T.
Nagatsu T.
doi:10.1021/bi00123a004
1992
Biochemistry
31
2229-2238
NUCLEOTIDE SEQUENCE [GENOMIC DNA]
DISEASE
VARIANT VAL-17
Identification and characterization of a novel form of the human L-dopa decarboxylase mRNA.
Vassilacopoulou D.S.
Sideris D.C.
Vassiliou A.G.
Fragoulis E.G.
doi:10.1023/b:nere.0000042207.05071.ea
2004
Neurochem. Res.
29
1817-1823
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2)
ALTERNATIVE SPLICING
TISSUE SPECIFICITY
VARIANT VAL-17
Placenta
NIEHS SNPs program
2004-01
EMBL/GenBank/DDBJ
NUCLEOTIDE SEQUENCE [GENOMIC DNA]
VARIANTS VAL-17; ASP-61; LEU-210; VAL-217; LEU-239; ILE-239 AND GLN-462
The DNA sequence of human chromosome 7.
Hillier L.W.
Fulton R.S.
Fulton L.A.
Graves T.A.
Pepin K.H.
Wagner-McPherson C.
Layman D.
Maas J.
Jaeger S.
Walker R.
Wylie K.
Sekhon M.
Becker M.C.
O'Laughlin M.D.
Schaller M.E.
Fewell G.A.
Delehaunty K.D.
Miner T.L.
Nash W.E.
Cordes M.
Du H.
Sun H.
Edwards J.
Bradshaw-Cordum H.
Ali J.
Andrews S.
Isak A.
Vanbrunt A.
Nguyen C.
Du F.
Lamar B.
Courtney L.
Kalicki J.
Ozersky P.
Bielicki L.
Scott K.
Holmes A.
Harkins R.
Harris A.
Strong C.M.
Hou S.
Tomlinson C.
Dauphin-Kohlberg S.
Kozlowicz-Reilly A.
Leonard S.
Rohlfing T.
Rock S.M.
Tin-Wollam A.-M.
Abbott A.
Minx P.
Maupin R.
Strowmatt C.
Latreille P.
Miller N.
Johnson D.
Murray J.
Woessner J.P.
Wendl M.C.
Yang S.-P.
Schultz B.R.
Wallis J.W.
Spieth J.
Bieri T.A.
Nelson J.O.
Berkowicz N.
Wohldmann P.E.
Cook L.L.
Hickenbotham M.T.
Eldred J.
Williams D.
Bedell J.A.
Mardis E.R.
Clifton S.W.
Chissoe S.L.
Marra M.A.
Raymond C.
Haugen E.
Gillett W.
Zhou Y.
James R.
Phelps K.
Iadanoto S.
Bubb K.
Simms E.
Levy R.
Clendenning J.
Kaul R.
Kent W.J.
Furey T.S.
Baertsch R.A.
Brent M.R.
Keibler E.
Flicek P.
Bork P.
Suyama M.
Bailey J.A.
Portnoy M.E.
Torrents D.
Chinwalla A.T.
Gish W.R.
Eddy S.R.
McPherson J.D.
Olson M.V.
Eichler E.E.
Green E.D.
Waterston R.H.
Wilson R.K.
doi:10.1038/nature01782
2003
Nature
424
157-164
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team
doi:10.1101/gr.2596504
2004
Genome Res.
14
2121-2127
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)
VARIANT VAL-17
Lung
Identification of a neuron-specific promoter of human aromatic L-amino acid decarboxylase gene.
Van Thai A.
Coste E.
Allen J.M.
Palmiter R.D.
Weber M.J.
doi:10.1016/0169-328x(93)90006-b
1993
Brain Res. Mol. Brain Res.
17
227-238
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-67
VARIANT VAL-17
Localisation of the gene for human aromatic L-amino acid decarboxylase (DDC) to chromosome 7p13-->p11 by in situ hybridisation.
Craig S.P.
Thai A.L.
Weber M.
Craig I.W.
doi:10.1159/000133384
1992
Cytogenet. Cell Genet.
61
114-116
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 68-105
An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
Bian Y.
Song C.
Cheng K.
Dong M.
Wang F.
Huang J.
Sun D.
Wang L.
Ye M.
Zou H.
doi:10.1016/j.jprot.2013.11.014
2014
J. Proteomics
96
253-262
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
Liver
Open conformation of human DOPA decarboxylase reveals the mechanism of PLP addition to Group II decarboxylases.
Giardina G.
Montioli R.
Gianni S.
Cellini B.
Paiardini A.
Voltattorni C.B.
Cutruzzola F.
doi:10.1073/pnas.1111456108
2011
Proc. Natl. Acad. Sci. U.S.A.
108
20514-20519
X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS)
COFACTOR-BINDING SITES
SUBUNIT
Mutations in the human aromatic L-amino acid decarboxylase gene.
Chang Y.T.
Mues G.
McPherson J.D.
Bedell J.
Marsh J.L.
Hyland K.
Courtwright K.H.
Summers J.W.
1998
J. Inherit. Metab. Dis.
21
4
VARIANTS AADCD VAL-91; SER-102; ARG-147; PHE-250; THR-275 AND LEU-309
Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Cargill M.
Altshuler D.
Ireland J.
Sklar P.
Ardlie K.
Patil N.
Shaw N.
Lane C.R.
Lim E.P.
Kalyanaraman N.
Nemesh J.
Ziaugra L.
Friedland L.
Rolfe A.
Warrington J.
Lipshutz R.
Daley G.Q.
Lander E.S.
doi:10.1038/10290
1999
Nat. Genet.
22
231-238
Cargill M.
Altshuler D.
Ireland J.
Sklar P.
Ardlie K.
Patil N.
Shaw N.
Lane C.R.
Lim E.P.
Kalyanaraman N.
Nemesh J.
Ziaugra L.
Friedland L.
Rolfe A.
Warrington J.
Lipshutz R.
Daley G.Q.
Lander E.S.
1999
Nat. Genet.
23
373
VARIANTS VAL-17; LEU-210 AND VAL-217
Levodopa-responsive aromatic L-amino acid decarboxylase deficiency.
Chang Y.T.
Sharma R.
Marsh J.L.
McPherson J.D.
Bedell J.A.
Knust A.
Braeutigam C.
Hoffmann G.F.
Hyland K.
doi:10.1002/ana.20055
2004
Ann. Neurol.
55
435-438
VARIANT AADCD SER-102
Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis.
Pons R.
Ford B.
Chiriboga C.A.
Clayton P.T.
Hinton V.
Hyland K.
Sharma R.
De Vivo D.C.
doi:10.1212/wnl.62.7.1058
2004
Neurology
62
1058-1065
VARIANTS AADCD HIS-47; PHE-250; GLN-347 AND ILE-408
NIEHS-SNPs
Wikipedia; Aromatic L-amino-acid decarboxylase entry
Atlas of Genetics and Cytogenetics in Oncology and Haematology
DCHUA
2.90
A/B=1-480
3.24
A/B=1-480
2.80
A/B=1-480
3
4
Amantadine
Benserazide
Carbidopa
Cycloserine
Droxidopa
Fluorodopa (18F)
Flupentixol
Levodopa
Methyldopa
Pyridoxal phosphate
Tryptophan
568 antibodies from 47 providers
human
DDC
Tissue enhanced (intestine, kidney, retina)
gene
phenotype
Aromatic L-amino acid decarboxylase deficiency
Eukaryota
2681
Catecholamine biosynthesis
Serotonin and melatonin biosynthesis
10 hits in 1159 CRISPR screens
human
Tclin
Protein
Expressed in jejunal mucosa and 127 other cell types or tissues
baseline and differential
HS
DOPA_deC_like
Aspartate Aminotransferase, domain 1
dopa decarboxylase, N-terminal domain
Type I PLP-dependent aspartate aminotransferase-like (Major domain)
Aromatic_deC
PyrdxlP-dep_de-COase
PyrdxlP-dep_Trfase
PyrdxlP-dep_Trfase_major
PyrdxlP-dep_Trfase_small
Pyridoxal-P_BS
AROMATIC-L-AMINO-ACID DECARBOXYLASE
GROUP II PYRIDOXAL-5-PHOSPHATE DECARBOXYLASE
Pyridoxal_deC
YHDCRBOXLASE
PLP-dependent transferases
DDC_GAD_HDC_YDC
Aromatic-L-amino-acid decarboxylase
AADC
4.1.1.28
DOPA decarboxylase
DDC
DDC
AADC
Catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine and L-5-hydroxytryptophan to serotonin.
Homodimer.
High expression in kidney.
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the group II decarboxylase family.
Aromatic-L-amino-acid decarboxylase
53926
1
480
1
58
115
2
118
178
2 X approximate tandem repeats
82
148
149
192
246
300
N-acetylmethionine
N6-(pyridoxal phosphate)lysine
303
In isoform 3.
68
145
In isoform 4.
146
238
In isoform 2.
SRQPVRMLRLKKTCLVSAVVRRS
316
338
In isoform 2.
339
V
17
In AADCD.
H
47
D
61
In AADCD.
V
91
In AADCD.
S
102
In AADCD.
R
147
L
210
V
217
I
239
L
In AADCD.
F
250
In AADCD.
T
275
In AADCD.
L
309
In AADCD.
Q
347
In AADCD.
I
408
Q
462
G
49
P
155
3
22
24
26
39
41
53
63
65
67
78
80
86
98
105
107
109
125
130
132
135
137
141
169
176
180
183
188
193
201
205
209
219
231
235
244
248
254
263
267
271
280
282
284
285
288
291
293
295
299
302
305
312
317
319
323
359
393
398
400
406
415
417
430
432
434
436
440
443
449
457
476
substrate
false
2
AR
2010-11-02
2
53926
22479ab86acf99ff423606c7b93935cb
1
MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYFPTASSYPAMLADMLCGAIGCIGFSWAASPACTELETVMMDWLGKMLELPKAFLNEKAGEGGGVIQGSASEATLVALLAARTKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERAGLIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFFMVATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWVKKRTDLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFRSLKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEICVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPCHLRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE
2
alt-DDC
MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYFPTASSYPAMLADMLCGAIGCIGFSWAASPACTELETVMMDWLGKMLELPKAFLNEKAGEGGGVIQGSASEATLVALLAARTKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERAGLIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFFMVATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWSRQPVRMLRLKKTCLVSAVVRRS
3
MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGGSASEATLVALLAARTKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERAGLIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFFMVATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWVKKRTDLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFRSLKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEICVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPCHLRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE
4
MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYFPTASSYPAMLADMLCGAIGCIGFSWAASPACTELETVMMDWLGKMLELPKAFLNEKAGEGGGVIQMVATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWVKKRTDLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFRSLKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEICVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPCHLRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE
true
true
true
true
true
true
true
true
true
true
true
true
true
true
true
true
true
true
true
true
true
true
true
true
true
true