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NiceProt View of Swiss-Prot: P00966

[General] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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General information about the entry
Entry name ASSY_HUMAN
Primary accession number P00966
Secondary accession number Q96GT4
Entered in Swiss-Prot in Release 01, July 1986
Sequence was last modified in Release 41, February 2003
Annotations were last modified in    Release 41, February 2003
Name and origin of the protein
Protein name Argininosuccinate synthase
Synonyms EC 6.3.4.5
Citrulline--aspartate ligase
Gene name
ASS
From
Homo sapiens (Human) [TaxID: 9606]
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
References
[1]
SEQUENCE FROM NUCLEIC ACID.
MEDLINE=84015388; PubMed=6194510; [NCBI, ExPASy, EBI, Israel, Japan]
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).
[2]
SEQUENCE FROM NUCLEIC ACID.
MEDLINE=84135824; PubMed=6321498; [NCBI, ExPASy, EBI, Israel, Japan]
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).
[3]
SEQUENCE FROM NUCLEIC ACID.
TISSUE=Kidney, and Muscle;
Strausberg R.;
Submitted (JUN-2001) to the EMBL/GenBank/DDBJ databases.
[4]
SEQUENCE OF 200-209.
TISSUE=Colon carcinoma;
MEDLINE=97295306; PubMed=9150948; [NCBI, ExPASy, EBI, Israel, Japan]
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).
[5]
VARIANTS SER-14; HIS-157; ASN-180; SER-324; TRP-304; TRP-363 AND ARG-390.
MEDLINE=90293089; PubMed=2358466; [NCBI, ExPASy, EBI, Israel, Japan]
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).
[6]
VARIANTS LEU-18 AND CYS-86.
MEDLINE=92048472; PubMed=1943692; [NCBI, ExPASy, EBI, Israel, Japan]
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).
[7]
VARIANTS THR-118; VAL-192; CYS-272; ARG-280; TRP-304 AND LEU-363.
MEDLINE=95067972; PubMed=7977368; [NCBI, ExPASy, EBI, Israel, Japan]
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).
[8]
CHARACTERIZATION OF SOME VARIANTS.
MEDLINE=96385010; PubMed=8792870; [NCBI, ExPASy, EBI, Israel, Japan]
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(1995).
Comments
  • CATALYTIC ACTIVITY: ATP + L-citrulline + L-aspartate = AMP + diphosphate + L-argininosuccinate.
  • PATHWAY: UREA CYCLE, PENULTIMATE STEP OF THE ARGININE BIOSYNTHETIC PATHWAY.
  • SUBUNIT: Homotetramer.
  • DISEASE: Defects in ASS are the cause of citrullinemia, an autosomal recessive disease characterized by severe vomiting spells and mental retardation.
  • SIMILARITY: BELONGS TO THE ARGININOSUCCINATE SYNTHASE FAMILY. SUBFAMILY 1.
Copyright
This SWISS-PROT entry is copyright. It is produced through a collaboration between the Swiss Institute of Bioinformatics and the EMBL outstation - the European Bioinformatics Institute. There are no restrictions on its use by non-profit institutions as long as its content is in no way modified and this statement is not removed. Usage by and for commercial entities requires a license agreement (See http://www.isb-sib.ch/announce/ or send an email to license@isb-sib.ch).
Cross-references
EMBL
X01630; CAA25771.1; -.[EMBL / GenBank / DDBJ] [CoDingSequence]
L00084; AAA51783.1; -.[EMBL / GenBank / DDBJ] [CoDingSequence]
L00079; AAA51783.1; JOINED.[EMBL / GenBank / DDBJ] [CoDingSequence]
L00080; AAA51783.1; JOINED.[EMBL / GenBank / DDBJ] [CoDingSequence]
L00081; AAA51783.1; JOINED.[EMBL / GenBank / DDBJ] [CoDingSequence]
L00082; AAA51783.1; JOINED.[EMBL / GenBank / DDBJ] [CoDingSequence]
L00083; AAA51783.1; JOINED.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC009243; AAH09243.1; -.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC021676; AAH21676.1; -.[EMBL / GenBank / DDBJ] [CoDingSequence]
PIR A01195; AJHURS.
Genew HGNC:758; ASS.
CleanEx HGNC:758; ASS.
MIM 603470 [NCBI / EBI].
215700 [NCBI / EBI].
GeneCards ASS.
GeneLynx ASS; Homo sapiens.
SOURCE ASS; Homo sapiens.
Ensembl P00966; Homo sapiens. [Entry / Contig view]
InterPro IPR001518; Arginosuc_synth.
Graphical view of domain structure.
Pfam PF00764; Arginosuc_synth; 1.
ProDom PD003544; Arginosuc_synth; 1.
[Domain structure / List of seq. sharing at least 1 domain].
TIGRFAMs TIGR00032; argG; 1.
PROSITE PS00564; ARGININOSUCCIN_SYN_1; 1.
PS00565; ARGININOSUCCIN_SYN_2; 1.
BLOCKS P00966.
ProtoNet P00966.
ProtoMap P00966.
PRESAGE P00966.
DIP P00966.
ModBase P00966.
SWISS-2DPAGE Get region on 2D PAGE.
Keywords
Arginine biosynthesis; Urea cycle; Ligase; ATP-binding; Disease mutation.
Features
KeyFrom   To Length Description
NP_BIND   115   123  9     ATP (POTENTIAL).
VARIANT   14    14        G -> S (IN CITRULLINEMIA).
/FTId=VAR_000681.
VARIANT   18    18        S -> L (IN CITRULLINEMIA).
/FTId=VAR_000682.
VARIANT   86    86        R -> C (IN CITRULLINEMIA).
/FTId=VAR_000683.
VARIANT   118   118        A -> T (IN CITRULLINEMIA).
/FTId=VAR_000684.
VARIANT   157   157        R -> H (IN CITRULLINEMIA).
/FTId=VAR_000685.
VARIANT   180   180        S -> N (IN CITRULLINEMIA).
/FTId=VAR_000686.
VARIANT   192   192        A -> V (IN CITRULLINEMIA).
/FTId=VAR_000687.
VARIANT   272   272        R -> C (IN CITRULLINEMIA).
/FTId=VAR_000688.
VARIANT   280   280        G -> R (IN CITRULLINEMIA).
/FTId=VAR_000689.
VARIANT   304   304        R -> W (IN CITRULLINEMIA).
/FTId=VAR_000690.
VARIANT   324   324        G -> S (IN CITRULLINEMIA).
/FTId=VAR_000691.
VARIANT   363   363        R -> L (IN CITRULLINEMIA).
/FTId=VAR_000692.
VARIANT   363   363        R -> W (IN CITRULLINEMIA).
/FTId=VAR_000693.
VARIANT   390   390        G -> R (IN CITRULLINEMIA).
/FTId=VAR_000694.
CONFLICT   325   327        FWH -> LRP (IN REF. 1 AND 2).
SEVIEWER logo Feature table viewer
Sequence information
Length: 412 AA Molecular weight: 46530 Da CRC64: 47CAD2373AE47E47 [This is a checksum on the sequence]
        10         20         30         40         50         60 
         |          |          |          |          |          | 
MSSKGSVVLA YSGGLDTSCI LVWLKEQGYD VIAYLANIGQ KEDFEEARKK ALKLGAKKVF 

        70         80         90        100        110        120 
         |          |          |          |          |          | 
IEDVSREFVE EFIWPAIQSS ALYEDRYLLG TSLARPCIAR KQVEIAQREG AKYVSHGATG 

       130        140        150        160        170        180 
         |          |          |          |          |          | 
KGNDQVRFEL SCYSLAPQIK VIAPWRMPEF YNRFKGRNDL MEYAKQHGIP IPVTPKNPWS 

       190        200        210        220        230        240 
         |          |          |          |          |          | 
MDENLMHISY EAGILENPKN QAPPGLYTKT QDPAKAPNTP DILEIEFKKG VPVKVTNVKD 

       250        260        270        280        290        300 
         |          |          |          |          |          | 
GTTHQTSLEL FMYLNEVAGK HGVGRIDIVE NRFIGMKSRG IYETPAGTIL YHAHLDIEAF 

       310        320        330        340        350        360 
         |          |          |          |          |          | 
TMDREVRKIK QGLGLKFAEL VYTGFWHSPE CEFVRHCIAK SQERVEGKVQ VSVLKGQVYI 

       370        380        390        400        410 
         |          |          |          |          | 
LGRESPLSLY NEELVSMNVQ GDYEPTDATG FININSLRLK EYHRLQSKVT AK 

P00966 in FASTA format

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