Sequence of ASSY_HUMAN
EC Number:6.3.4.5
EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Reaction
ATP + L-citrulline + L-aspartate = AMP + diphosphate + 2-(Nomega-L-arginino)succinate
Other sequences found for EC No. 6.3.4.5
General information:
Sequence
0 MSSKGSVVLA YSGGLDTSCI LVWLKEQGYD VIAYLANIGQ KEDFEEARKK ALKLGAKKVF
60 IEDVSREFVE EFIWPAIQSS ALYEDRYLLG TSLARPCIAR KQVEIAQREG AKYVSHGATG
120 KGNDQVRFEL SCYSLAPQIK VIAPWRMPEF YNRFKGRNDL MEYAKQHGIP IPVTPKNPWS
180 MDENLMHISY EAGILENPKN QAPPGLYTKT QDPAKAPNTP DILEIEFKKG VPVKVTNVKD
240 GTTHQTSLEL FMYLNEVAGK HGVGRIDIVE NRFIGMKSRG IYETPAGTIL YHAHLDIEAF
300 TMDREVRKIK QGLGLKFAEL VYTGFWHSPE CEFVRHCIAK SQERVEGKVQ VSVLKGQVYI
360 LGRESPLSLY NEELVSMNVQ GDYEPTDATG FININSLRLK EYHRLQSKVT AK
Download this sequence
in fasta formatDownload all sequences for 6.3.4.5
in fasta format
in csv (Excel, OpenOffice) formatSequence related references
Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
900606
Bock H.-G.O.,Su T.-S.,O'Brien W.E.,Beaudet A.L.
Sequence for human argininosuccinate synthetase cDNA.
Nucleic Acids Res.
11
6505-6512
1983
900607
Freytag S.O.,Bock H.-G.O.,Beaudet A.L.,O'Brien W.E.
Molecular structures of human argininosuccinate synthetase pseudogenes. Evolutionary and mechanistic implications.
J. Biol. Chem.
259
3160-3166
1984
900608
Haeberle J.,Pauli S.,Linnebank M.,Kleijer W.J.,Bakker H.D.,Wanders R.J.A.,Harms E.,Koch H.G.
Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia.
Hum. Genet.
110
327-333
2002
900609
Ota T.,Suzuki Y.,Nishikawa T.,Otsuki T.,Sugiyama T.,Irie R.,Wakamatsu A.,Hayashi K.,Sato H.,Nagai K.,Kimura K.,Makita H.,Sekine M.,Obayashi M.,Nishi T.,Shibahara T.,Tanaka T.,Ishii S.,Yamamoto J.,Saito K.,Kawai Y.,Isono Y.,Nakamura Y.,Nagahari K.,Murakami K.,Yasuda T.,Iwayanagi T.,Wagatsuma M.,Shiratori A.,Sudo H.,Hosoiri T.,Kaku Y.,Kodaira H.,Kondo H.,Sugawara M.,Takahashi M.,Kanda K.,Yokoi T.,Furuya T.,Kikkawa E.,Omura Y.,Abe K.,Kamihara K.,Katsuta N.,Sato K.,Tanikawa M.,Yamazaki M.,Ninomiya K.,Ishibashi T.,Yamashita H.,Murakawa K.,Fujimori K.,Tanai H.,Kimata M.,Watanabe M.,Hiraoka S.,Chiba Y.,Ishida S.,Ono Y.,Takiguchi S.,Watanabe S.,Yosida M.,Hotuta T.,Kusano J.,Kanehori K.,Takahashi-Fujii A.,Hara H.,Tanase T.-O.,Nomura Y.,Togiya S.,Komai F.,Hara R.,Takeuchi K.,Arita M.,Imose N.,Musashino K.,Yuuki H.,Oshima A.,Sasaki N.,Aotsuka S.,Yoshikawa Y.,Matsunawa H.,Ichihara T.,Shiohata N.,Sano S.,Moriya S.,Momiyama H.,Satoh N.,Takami S.,Terashima Y.,Suzuki O.,Nakagawa S.,Senoh A.,Mizoguchi H.,Goto Y.,Shimizu F.,Wakebe H.,Hishigaki H.,Watanabe T.,Sugiyama A.,Takemoto M.,Kawakami B.,Yamazaki M.,Watanabe K.,Kumagai A.,Itakura S.,Fukuzumi Y.,Fujimori Y.,Komiyama M.,Tashiro H.,Tanigami A.,Fujiwara T.,Ono T.,Yamada K.,Fujii Y.,Ozaki K.,Hirao M.,Ohmori Y.,Kawabata A.,Hikiji T.,Kobatake N.,Inagaki H.,Ikema Y.,Okamoto S.,Okitani R.,Kawakami T.,Noguchi S.,Itoh T.,Shigeta K.,Senba T.,Matsumura K.,Nakajima Y.,Mizuno T.,Morinaga M.,Sasaki M.,Togashi T.,Oyama M.,Hata H.,Watanabe M.,Komatsu T.,Mizushima-Sugano J.,Satoh T.,Shirai Y.,Takahashi Y.,Nakagawa K.,Okumura K.,Nagase T.,Nomura N.,Kikuchi H.,Masuho Y.,Yamashita R.,Nakai K.,Yada T.,Nakamura Y.,Ohara O.,Isogai T.,Sugano S.
Complete sequencing and characterization of 21,243 full-length human cDNAs.
Nat. Genet.
36
40-45
2004
900610
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
900611
Jinno Y.,Nomiyama H.,Matuo S.,Shimada K.,Matsuda I.,Saheki T.
Structure of the 5' end region of the human argininosuccinate synthetase gene.
J. Inherit. Metab. Dis.
8
157-159
1985
900612
Isashiki Y.,Noda T.,Kobayashi K.,Sase M.,Saheki T.,Titani K.
Identification of essential arginine residue(s) for Mg-ATP binding of human argininosuccinate synthetase.
Protein Seq. Data Anal.
2
283-287
1989
900613
Ji H.,Reid G.E.,Moritz R.L.,Eddes J.S.,Burgess A.W.,Simpson R.J.
A two-dimensional gel database of human colon carcinoma proteins.
Electrophoresis
18
605-613
1997
900614
Surh L.C.,Beaudet A.L.,O'Brien W.E.
Molecular characterization of the murine argininosuccinate synthetase locus.
Gene
99
181-189
1991
900615
Olsen J.V.,Vermeulen M.,Santamaria A.,Kumar C.,Miller M.L.,Jensen L.J.,Gnad F.,Cox J.,Jensen T.S.,Nigg E.A.,Brunak S.,Mann M.
Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
Sci. Signal.
3
0-0
2010
900616
Burkard T.R.,Planyavsky M.,Kaupe I.,Breitwieser F.P.,Buerckstuemmer T.,Bennett K.L.,Superti-Furga G.,Colinge J.
Initial characterization of the human central proteome.
BMC Syst. Biol.
5
17-17
2011
900617
Zhou H.,Di Palma S.,Preisinger C.,Peng M.,Polat A.N.,Heck A.J.,Mohammed S.
Toward a comprehensive characterization of a human cancer cell phosphoproteome.
J. Proteome Res.
12
260-271
2013
900618
Bian Y.,Song C.,Cheng K.,Dong M.,Wang F.,Huang J.,Sun D.,Wang L.,Ye M.,Zou H.
An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
J. Proteomics
96
253-262
2014
900619
Lin R.,Mo Y.,Zha H.,Qu Z.,Xie P.,Zhu Z.J.,Xu Y.,Xiong Y.,Guan K.L.
CLOCK acetylates ASS1 to drive circadian rhythm of ureagenesis.
Mol. Cell
68
198-209
2017
900620
Shaheen N.,Kobayashi K.,Terazono H.,Fukushige T.,Horiuchi M.,Saheki T.
Characterization of human wild-type and mutant argininosuccinate synthetase proteins expressed in bacterial cells.
Enzyme Protein
48
251-264
1994
900621
Zheng X.,Dai X.,Zhao Y.,Chen Q.,Lu F.,Yao D.,Yu Q.,Liu X.,Zhang C.,Gu X.,Luo M.
Restructuring of the dinucleotide-binding fold in an NADP(H) sensor protein.
Proc. Natl. Acad. Sci. U.S.A.
104
8809-8814
2007
900622
Karlberg T.,Collins R.,van den Berg S.,Flores A.,Hammarstrom M.,Hogbom M.,Holmberg Schiavone L.,Uppenberg J.
Structure of human argininosuccinate synthetase.
Acta Crystallogr. D
64
279-286
2008
900623
Kobayashi K.,Jackson M.J.,Tick D.B.,O'Brien W.E.,Beaudet A.L.
Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia.
J. Biol. Chem.
265
11361-11367
1990
900624
Kobayashi K.,Rosenbloom C.,Beaudet A.L.,O'Brien W.E.
Additional mutations in argininosuccinate synthetase causing citrullinemia.
Mol. Biol. Med.
8
95-100
1991
900625
Kobayashi K.,Shaheen N.,Terazono H.,Saheki T.
Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia.
Am. J. Hum. Genet.
55
1103-1112
1994
900626
Vilaseca M.A.,Kobayashi K.,Briones P.,Lambruschini N.,Campistol J.,Tabata A.,Alomar A.,Rodes M.,Lluch M.,Saheki T.
Phenotype and genotype heterogeneity in Mediterranean citrullinemia.
Mol. Genet. Metab.
74
396-398
2001
900627
Gao H.-Z.,Kobayashi K.,Tabata A.,Tsuge H.,Iijima M.,Yasuda T.,Kalkanoglu H.S.,Dursun A.,Tokatli A.,Coskun T.,Trefz F.K.,Skladal D.,Mandel H.,Seidel J.,Kodama S.,Shirane S.,Ichida T.,Makino S.,Yoshino M.,Kang J.-H.,Mizuguchi M.,Barshop B.A.,Fuchinoue S.,Seneca S.,Zeesman S.,Knerr I.,Rodes M.,Wasant P.,Yoshida I.,De Meirleir L.,Abdul-Jalil M.,Begum L.,Horiuchi M.,Katunuma N.,Nakagawa S.,Saheki T.
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.
Hum. Mutat.
22
24-34
2003
900628
Haeberle J.,Pauli S.,Schmidt E.,Schulze-Eilfing B.,Berning C.,Koch H.G.
Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1).
Mol. Genet. Metab.
80
302-306
2003
900629
Enns G.M.,O'Brien W.E.,Kobayashi K.,Shinzawa H.,Pellegrino J.E.
Postpartum 'psychosis' in mild argininosuccinate synthetase deficiency.
Obstet. Gynecol.
105
1244-1246
2005
900630
Kleijer W.J.,Garritsen V.H.,van der Sterre M.L.,Berning C.,Haeberle J.,Huijmans J.G.M.
Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia.
Prenat. Diagn.
26
242-247
2006
900631
Berning C.,Bieger I.,Pauli S.,Vermeulen T.,Vogl T.,Rummel T.,Hoehne W.,Koch H.G.,Rolinski B.,Gempel K.,Haeberle J.
Investigation of citrullinemia type I variants by in vitro expression studies.
Hum. Mutat.
29
1222-1227
2008
900632
Engel K.,Hoehne W.,Haeberle J.
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.
Hum. Mutat.
30
300-307
2009
900633
Wu T.F.,Liu Y.P.,Li X.Y.,Wang Q.,Song J.Q.,Yang Y.L.
Prenatal diagnosis of citrullinemia type 1: a Chinese family with a novel mutation of the ASS1 gene.
Brain Dev.
36
264-267
2014
900634
Miller M.J.,Soler-Alfonso C.R.,Grund J.E.,Fang P.,Sun Q.,Elsea S.H.,Sutton V.R.
Improved standards for prenatal diagnosis of citrullinemia.
Mol. Genet. Metab.
112
205-209
2014
900635
Kimani J.K.,Wei T.,Chol K.,Li Y.,Yu P.,Ye S.,Huang X.,Qi M.
Functional analysis of novel splicing and missense mutations identified in the ASS1 gene in classical citrullinemia patients.
Clin. Chim. Acta
438
323-329
2015
900636
Diez-Fernandez C.,Wellauer O.,Gemperle C.,Ruefenacht V.,Fingerhut R.,Haeberle J.
Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation.
J. Med. Genet.
53
710-719
2016
900637
Diez-Fernandez C.,Ruefenacht V.,Haeberle J.
Mutations in the human argininosuccinate synthetase (ASS1) gene, impact on patients, common changes, and structural considerations.
Hum. Mutat.
38
471-484
2017
