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ASS1 Gene

protein-coding GIFtS: 59

GC09P132310

argininosuccinate synthetase 1
(Previous name: argininosuccinate synthetase )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: ASS)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
ASS ^², ³
CTLN1 ^¹, ²
EC 6.3.4.5 ^³
OTTHUMP00000022362 ^²
OTTHUMP00000022363 ^²
OTTHUMP00000022364 ^²

Descriptions
Citrulline--aspartate ligase ^³
argininosuccinate synthetase ^¹
argininosuccinate synthetase 1 ^²
citrulline-aspartate ligase ^²

External Ids
HGNC: 758¹
Entrez Gene: 445²
UniProtKB: P00966³
Ensembl: ENSG00000130707⁷

Search outside databases for aliases for ASS1 gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for ASS1:

The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic

pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered

across the human genome, among which the one located on chromosome 9 appears to be the only

functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of ASS cause

citrullinemia. Two transcript variants encoding the same protein have been found for this gene.

[provided by RefSeq]

Gene Wiki entry for ASS1 (Argininosuccinate_synthetase_1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q34.1 Ensembl cytogenetic band: 9q34.11 HGNC cytogenetic band: 9q34.1

ASS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09P132310: (about GC identifiers)

Start:	132,309,915 bp from pter
End:	132,366,482 bp from pter
Size:	56,568 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000009.10 NT_035014.4

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: ASSY_HUMAN, P00966 (See protein sequence)

Recommended Name: Argininosuccinate synthase

Size: 412 amino acids; 46530 Da

Subunit: Homotetramer

PDB structures from and Proteopedia :

2NZ2 (3D)

Secondary accessions: Q6LDL2 Q86UZ0 Q96GT4

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_000041.2 NP_446464.1

ENSEMBL proteins:

ENSP00000253004 ENSP00000361470 ENSP00000361471 ENSP00000361469 ENSP00000361462 ENSP00000361461

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (ASS1)
	Human Recombinant Proteins from Abnova (ASS1)

OriGene Purified Recombinant Human Protein: ASS1

1 Gene Ontology (GO) cellular component term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	TAS	6194510

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Antibodies for ASS1:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for ASS1
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (ASS1), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (ASS1)
	Search Novus for antibodies for ASS1

Assays for ASS1:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry P00966

ProtoNet protein and cluster: P00966

1 Blocks protein family: IPB001518 Argininosuccinate synthase

UniProtKB/Swiss-Prot: ASSY_HUMAN, P00966

Similarity: Belongs to the argininosuccinate synthase family. Type 1 subfamily

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ASS1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000050

Applied Biosystems Silencer® siRNAs for ASS1

Sigma-Aldrich siRNA and siRNA Panels for ASS1

Sigma-Aldrich shRNA for ASS1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for ASS1
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000050
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000050
untagged cDNA clones in CMV expression vector (see all 3): NM_000050

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_054012

UniProtKB/Swiss-Prot: ASSY_HUMAN, P00966

Catalytic activity: ATP + L-citrulline + L-aspartate = AMP + diphosphate +

N(omega)-(L-arginino)succinate

Enzyme Number (IUBMB): EC 6.3.4.5

2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Ass1):

homeostasis/metabolism

lethality-prenatal/perinatal

5 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0004055	argininosuccinate synthase activity	IEA	--
GO:0005515	protein binding	IPI	12620389
GO:0005524	ATP binding	IEA	--
GO:0016874	ligase activity	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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3 Sigma-Aldrich "Your Favorite Gene" Pathways for ASS1 (Your Favorite Gene powered by Ingenuity)

Alanine and Aspartate Metabolism
Urea Cycle and Metabolism of Amino Groups
Arginine and Proline Metabolism

GeneDecks ASS1 for the pathways selected above

About GeneDecksing

UniProtKB/Swiss-Prot: ASSY_HUMAN, P00966

Pathway: Amino-acid biosynthesis; L-arginine biosynthesis; L-arginine from L-ornithine and

carbamoyl phosphate: step 2/3

Pathway: Nitrogen metabolism; urea cycle; N(omega)-(L-arginino)succinic acid from L-aspartate and

L-citrulline: step 1/1

5/32 Interacting proteins for ASS1 (ENSP00000361471³ P00966^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 32 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ARAF	P10398¹^,²	EBI-536842, EBI-365961 MINT-19320 EBI-536842, EBI-365961 MINT-19320
ARAF	P10398¹^,²	EBI-536842, EBI-365961 MINT-19320 EBI-536842, EBI-365961 MINT-19320
YWHAZ	P63104²	MINT-3319181
ASL	ENSP00000307188³	STRING (score=.999)
OTC	ENSP00000039007³	STRING (score=.999)

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3 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000050	urea cycle	TAS	2358466
GO:0006526	arginine biosynthetic process	IEA	--
GO:0008652	amino acid biosynthetic process	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for ASS1
10/17 Novoseek chemical compound relationships for ASS1 gene (see all 17 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
carbamoyl phosphate	77.55	10	8464164 (1), 9874001 (1), 19000307 (1), 15164414 (1) (see all 8)
urea	75.82	57	19217439 (3), 8199693 (2), 1467433 (1), 9874001 (1) (see all 31)
ornithine	69.51	19	9874001 (2), 8464164 (1), 10869432 (1), 17210712 (1) (see all 11)
adenylosuccinate	54.42	1	11810243 (1)
delta(1)pyrroline-5-carboxylate	53.50	1	15302078 (1)
guanidinoacetate	53.13	4	16580861 (3)
nitric oxide	53.01	35	9806879 (2), 10709858 (2), 11292368 (2), 11556547 (2) (see all 17)
asparagine	32.03	3	17854304 (1), 8435774 (1), 8548458 (1)
phosphoenolpyruvate	17.30	2	8733888 (1), 11233034 (1)
ammonium	13.19	1	8464164 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ASS1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000050

Sigma-Aldrich siRNA and siRNA Panels for ASS1

Sigma-Aldrich shRNA for ASS1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000050 NM_054012

REFSEQ mRNAs for ASS1 gene (2 alternative transcripts):

NM_000050.4 NM_054012.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000050 NM_054012

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000050
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000050
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_000050

Additional cDNA sequence:

AK027126.1 AK125730.1 AK293114.1 AK304625.1 AK315093.1 BC009243.2 BC013224.1 BC021676.1

BC129942.1 CR591395.1 CR592094.1 CR595936.1 CR597457.1 CR598119.1 CR598476.1 CR601739.1

CR604563.1 CR605717.1 CR605897.1 CR606149.1 CR606338.1 CR607007.1 CR608372.1 CR609148.1

CR612736.1 CR613193.1 CR615955.1 CR616527.1 CR616967.1 CR619067.1 CR620347.1 CR625815.1

X01630.1 Z36810.1

24/38 DOTS entries (see all 38 ):

DT.95173871 DT.119979 DT.95173856 DT.100678262 DT.95120177 DT.91771692 DT.91827937 DT.100678270

DT.95173853 DT.95173857 DT.100861593 DT.120866750 DT.100678266 DT.100678269 DT.121174157 DT.100061073

DT.100678274 DT.102828467 DT.91937962 DT.100042567 DT.100678275 DT.120758135 DT.95234117 DT.100061074

24/867 AceView cDNA sequences (see all 867 ):

CA428300 CA421020 CR608372 BG392449 R92705 BU683811 BM837525 AV704527

AA128188 AA512973 BC021676 AV689719 BU500723 AW004845 CA426978 AI802458

BU539553 CR606338 BI113695 BI333825 CD607242 BU173072 BU500450 BU181082

highest scoring ESTs for ASS1:

X01630 AA025145 AA026212 AA026596 AA046089 AA053546 AA111856 AA113087 AA128189 AA132447

Unigene Cluster for ASS1:

Argininosuccinate synthetase 1

Hs.160786 [show with all ESTs]

Unigene Representative Sequence: AK027126

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for ASS1 (see all 11 )

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	·	1f	·	1g	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9a	·	9b	^	10	^	11	^	12a	·	12b	^	13a	·	13b	^	14	^	15	^	16a	·	16b	^
SP1:													-		-		-												-								-				-				-
SP2:													-		-		-		-										-								-				-				-
SP3:																			-										-								-				-				-
SP4:													-		-		-		-								-		-								-				-				-
SP5:													-		-				-										-

ExUns:	17a	·	17b	^	18	^	19a	·	19b	·	19c
SP1:
SP2:
SP3:	-
SP4:
SP5:

About this scheme

ECgene alternative splicing isoforms for ASS1

6 Ensembl transcripts including schematic representations:

ENST00000352480 ENST00000334909 ENST00000372394 ENST00000372393 ENST00000344866 ENST00000372386

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

ASS1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for ASS1

¹ / ² / ³

3 probe-sets matching ASS1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
40541_at²^{, 3}	U95-A	8	1.00	0.53	1.00	1.00	X01630	1.00	1.00	1.00	1
207076_s_at²^{, 3}	U133-A	8	1.00	0.51	--	--	NM_000050	0.60	1.00	0.82	1
207076_s_at²	U133Plus2	8	1.00	0.51	--	--	--	--	--	--	--

GeneDecks ASS1 for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: AACGTGCAGG

SOURCE GeneReport for Unigene cluster: Hs.160786

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for ASS1 gene from 5/20 species (see all 20 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	ASS1¹	--	argininosuccinate synthetase 1	92.15(n) 98.06(a)	480693 XM_844802.1 XP_849895.1
chimpanzee (Pan troglodytes)	ASS1¹	--	argininosuccinate synthetase 1	99.51(n) 99.51(a)	743223 XM_001165570.1 XP_001165570.1
cow (Bos taurus)	ASS1¹	--	argininosuccinate synthetase 1	91.75(n) 96.12(a)	280726 NM_173892.3 NP_776317.1
rat (Rattus norvegicus)	Ass1¹	--	argininosuccinate synthetase 1	89.64(n) 97.57(a)	25698 NM_013157.2 NP_037289.1
mouse (Mus musculus)	Ass1^{1, 5}	2 (20.00 cM)⁵	argininosuccinate synthetase 1^{1, 5}	89.08(n)¹ 96.84(a)¹	11898¹ NM_007494.3¹ NP_031520.1¹ AA408052⁵ AK146635⁵ (see all 24)

About this table Species with no ortholog for ASS1

ENSEMBL Gene Tree for ASS1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Pseudogenes

10 related pseudogenes

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
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10/353 NCBI SNPs in ASS1 are shown (see all 353 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 147)

AB	SNP ID	Valid	Chr 9 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs928518^1,2	A,C,F,H	132308572(-)	`TGTATC/ATTTCC`	2	--	ng5¹ tfbs³		4		EU EA WA	420
	rs7869828^1,2	A,C,H	132307933(+)	`TTCTCC/TACCTG`	2	--	ng5¹		8		EU EA WA NA	782
	rs4740430^1,2	A,C	132308279(+)	`CAGGAC/TGGTGG`	2	--	ng5¹		0	--	--	--	--
	rs688430^1,2	F,H	132366621(-)	`CTGCCA/GGATTA`	2	--	ng3¹		4		EU EA WA	414
--	rs11244367^1,2	C	132309294(+)	`TCTTTG/TACTGG`	2	--	ng5¹		0	--	--	--	--
--	rs7854616^1,2	A	132309459(+)	`TCTAGA/TGGGTT`	2	--	ng5¹		0	--	--	--	--
	rs2229556^1,2	F	132323628(+)	`TGTCAT/GCAGGG`	2	I/S	mis¹		1		MN	54
	rs3012668^1,2	H	132366408(+)	`TCGAAG/AGGAAG`	2	--	ut3¹ ese³ trp³		4		EU EA WA	420
	rs10901072^1,2	A,C,F,H	132336047(+)	`CAACAC/TGGGAT`	2	H/H	syn¹ ese³		9		NA EU EA WA	914
--	rs1057484^1,2	C	132354578(+)	`TACCAC/TGCTCA`	2	H/H	syn¹		0	--	--	--	--

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HapMap Linkage Disequilibrium images for ASS1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 603470

UniProtKB/Swiss-Prot: ASSY_HUMAN, P00966

Defects in ASS1 are the cause of citrullinemia type 1 (CTLN1) [MIM:215700]. Citrullinemia

belongs to the urea cycle disorders. It is an autosomal recessive disease characterized primarily

by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation.

CTLN1 usually manifests in the first few days of life. Affected infants appear normal at birth,

but as ammonia builds up in the body they present symptoms such as lethargy, poor feeding,

vomiting, seizures and loss of consciousness. Less commonly, a milder CTLN1 form can develop later

in childhood or adulthood

10/26 Novoseek disease relationships for ASS1 gene (see all 26 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
citrullinemia	98.57	120	8105687 (5), 14770441 (4), 7556646 (3), 14680976 (3) (see all 53)
citrullinemia classical	95.87	9	9090528 (2), 8419623 (1), 18473344 (1), 7557970 (1) (see all 6)
ctln2	93.17	23	11153906 (2), 10369257 (2), 12602510 (1), 14606711 (1) (see all 10)
argininosuccinate lyase deficiency	90.97	9	16580861 (2), 10869432 (1), 15164414 (1), 19217439 (1) (see all 6)
hyperammonemia	85.47	10	10097149 (1), 12542919 (1), 15347874 (1), 7699832 (1) (see all 7)
carbamoyl phosphate synthetase deficiency	82.30	1	1720458 (1)
lysinuric protein intolerance	75.84	2	1568044 (1), 12450676 (1)
orotic aciduria	69.95	1	17513443 (1)
hyperargininemia	67.51	1	15164414 (1)
ornithine transcarbamylase deficiency	66.57	2	10869432 (1), 15164414 (1)

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GeneTests: ASS1

Citrullinemia Type I

Human Gene Mutation Database: ASS1

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/179 PubMed articles for ASS1 gene (see all 179 ):

Characterization of human wild-type and mutant argininosuccinate synthetase proteins expressed in bacterial cells. (PubMed id 8792870)^{1, 3, 4} Shaheen N....Saheki T. (1995)
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients. (PubMed id 12815590)^{1, 3, 4} Gao H.-Z.... Saheki T. (2003)
Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia. (PubMed id 11941481)^{1, 3, 4} Haeberle J.... Koch H.G. (2002)
Additional mutations in argininosuccinate synthetase causing citrullinemia. (PubMed id 1943692)^{1, 3, 4} Kobayashi K.... O'Brien W.E. (1991)
Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia. (PubMed id 2358466)^{1, 3, 4} Kobayashi K.... Beaudet A.L. (1990)
Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia. (PubMed id 7977368)^{1, 3, 4} Kobayashi K.... Saheki T. (1994)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{3, 4} Ota T....Sugano S. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
Phenotype and genotype heterogeneity in Mediterranean citrullinemia. (PubMed id 11708871)^{3, 4} Vilaseca M.A.... Saheki T. (2001)
A two-dimensional gel database of human colon carcinoma proteins. (PubMed id 9150948)^{3, 4} Ji H.... Simpson R.J. (1997)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 445	HGNC: 758	AceView: ASS	Ensembl:ENSG00000130707	euGenes: HUgn445
ECgene: ASS1	H-InvDB: ASS1

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
GeneReviews	http://www.genetests.org/query?gene=ASS1

Licensable Technologies for ASS1
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for ASS1:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for ASS1-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for ASS1		Antibodies for ASS1
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for ASS1		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (ASS1)
	Antibodies (ASS1)
	Search for Chimera RNAi
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Search for Antibodies & Assays

	Recombinant Proteins (ASS1)
	Antibodies (ASS1)

	Tagged/untagged cDNA clones
	Validated SYBR primer pairs
	Purified proteins from HEK293T cells
	Western blot validated antibodies
	shRNA in GFP-retroviral vector

Search Tocris compounds for ASS1

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Search Novus for antibodies for ASS1

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
ASS1 Gene at Home site.
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ASS1 Gene

protein-coding GIFtS: 59

Aliases &
Descriptions
for ASS1

Summaries
for ASS1

Genomic Location
for ASS1

Proteins
for ASS1

Protein Domains/
Families
for ASS1

Gene Function
for ASS1

Pathways & Interactions
for ASS1

Drugs & Compounds
for ASS1

Transcripts
for ASS1

Expression
for ASS1

Orthologs
for ASS1

Paralogs
for ASS1

SNPs/Variants
for ASS1

Disorders & Mutations
for ASS1

Medical News
for ASS1

Publications
for ASS1

Search for ASS1

Genome Databases showing ASS1

Other Databases showing ASS1

Specialized Databases showing ASS1

Licensable Technologies
for ASS1

Services
for ASS1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

ASS1 Gene

protein-coding GIFtS: 59

Aliases & Descriptionsfor ASS1

Summariesfor ASS1

Genomic Locationfor ASS1

Proteinsfor ASS1

Protein Domains/Familiesfor ASS1

Gene Functionfor ASS1

Pathways & Interactionsfor ASS1

Drugs & Compoundsfor ASS1

Transcriptsfor ASS1

Expression for ASS1

Orthologsfor ASS1

Paralogsfor ASS1

SNPs/Variantsfor ASS1

Disorders & Mutationsfor ASS1

Medical Newsfor ASS1

Publicationsfor ASS1

Search for ASS1

Genome Databases showing ASS1

Other Databases showing ASS1

Specialized Databases showing ASS1

Licensable Technologiesfor ASS1

Servicesfor ASS1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for ASS1

Summaries
for ASS1

Genomic Location
for ASS1

Proteins
for ASS1

Protein Domains/
Families
for ASS1

Gene Function
for ASS1

Pathways & Interactions
for ASS1

Drugs & Compounds
for ASS1

Transcripts
for ASS1

Expression
for ASS1

Orthologs
for ASS1

Paralogs
for ASS1

SNPs/Variants
for ASS1

Disorders & Mutations
for ASS1

Medical News
for ASS1

Publications
for ASS1

Licensable Technologies
for ASS1

Services
for ASS1