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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CPS1 Gene

protein-coding GIFtS: 66
GCID: GC02P211342

carbamoyl-phosphate synthase 1, mitochondrial

(Previous names: carbamoyl-phosphate synthetase 1, mitochondrial )

Explore 26 diseases affiliated with
CPS1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Carbamoyl-Phosphate Synthase 1, Mitochondrial¹ ²		Carbamoyl-Phosphate Synthase [Ammonia], Mitochondrial²
EC 6.3.4.16³ ⁸		Carbamoylphosphate Synthetase I²
Carbamoyl-Phosphate Synthetase 1, Mitochondrial¹		Carbamoyl-Phosphate Synthetase I³
CPSASE1²		CPSase I³

External Ids:	HGNC: 2323¹	Entrez Gene: 1373²	Ensembl: ENSG00000021826⁷	OMIM: 608307⁵	UniProtKB: P31327³

Export aliases for CPS1 gene to outside databases

Previous GC identifers: GC02P209696 GC02P210145 GC02P211385 GC02P211623 GC02P211246 GC02P211050 GC02P211129 GC02P203189

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

Entrez Gene summary for CPS1:

The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate.

This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from

cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants

encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the

mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency,

susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow

transplantation.(provided by RefSeq, May 2010)

UniProtKB/Swiss-Prot: CPSM_HUMAN, P31327

Function: Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess

ammonia from the cell

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_005403.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CPS1 gene promoter:
HFH-3 AP-1 HTF C/EBPalpha CHOP-10 FOXI1 Pax-3 MRF-2 NF-Y CBF(2)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CPS1 promoter sequence

Search SABiosciences Chromatin IP Primers for CPS1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CPS1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q35 Ensembl cytogenetic band: 2q34 HGNC cytogenetic band: 2p

CPS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CPS1 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P211342: view genomic region (about GC identifiers)

Start:	211,342,406 bp from pter	End:	211,543,831 bp from pter
Size:	201,426 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CPSM_HUMAN, P31327 (See protein sequence)

Recommended Name: Carbamoyl-phosphate synthase [ammonia], mitochondrial precursor

Size: 1500 amino acids; 164939 Da

Subcellular location: Mitochondrion. Nucleus, nucleolus

1 PDB 3D structure from and Proteopedia for CPS1:

2YVQ (3D)

Secondary accessions: B7Z818 O43774 Q53TL5 Q7Z5I5

Alternative splicing: 2 isoforms: P31327-1 P31327-2

Explore the universe of human proteins at neXtProt for CPS1: NX_P31327

Post-translational modifications:

Succinylated at Lys-287 and Lys-1291. Desuccinylated at Lys-1291 by SIRT5, leading to activation (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P31327

4/28 DME Specific Peptides for CPS1 (P31327) (see all 28)

NEGIMHE

FNTGLGGY

KGYSFGHP

AQAPWKAVN

CPS1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001116105.1 NP_001116106.1 NP_001866.2

ENSEMBL proteins:

ENSP00000388496 ENSP00000430697 ENSP00000430644 ENSP00000402608 ENSP00000233072

ENSP00000406136

Reactome Protein details: P31327
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	Uscn Proteins for CPS1

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005730	nucleolus	IEA	--
GO:0005737	cytoplasm	--	--
GO:0005739	mitochondrion	--	--
GO:0005743	mitochondrial inner membrane	--	--
GO:0005759	mitochondrial matrix	TAS	--

CPS1 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CPS1 for domains About GeneDecksing

5/13 InterPro domains/families (see all 13):

IPR005481 CarbamoylP_synth_lsu_N

IPR016185 PreATP-grasp_dom

IPR011761 ATP-grasp

IPR006275 CarbamoylP_synth_lsu

IPR005483 CbamoylP_synth_lsu_CPSase_dom

Graphical View of Domain Structure for InterPro Entry P31327

ProtoNet protein and cluster: P31327

5 Blocks protein families:

IPB000991 Glutamine amidotransferase class-I

IPB001317 Carbamoyl-phosphate synthase protein GATase domain signature

IPB002474 Carbamoyl-phosphate synthase

IPB005480 Carbamoyl-phosphate synthetase large chain

IPB011607 MGS-like

UniProtKB/Swiss-Prot: CPSM_HUMAN, P31327

Domain: The type-1 glutamine amidotransferase domain is defective

Similarity: Contains 2 ATP-grasp domains

Similarity: Contains 1 glutamine amidotransferase type-1 domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CPSM_HUMAN, P31327

Function: Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess

ammonia from the cell

Catalytic activity: 2 ATP + NH(3) + CO(2) + H(2)O = 2 ADP + phosphate + carbamoyl phosphate

Enzyme regulation: Requires N-acetyl-L-glutamate (NAG) as an allosteric activator

Genatlas biochemistry entry for CPS1:

carbamoyl phosphate synthetase 1,mitochondrial,urea cycle

Enzyme Number (IUBMB): EC 6.3.4.16¹ ²

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Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004087	carbamoyl-phosphate synthase (ammonia) activity	IMP	9711878
GO:0004175	endopeptidase activity	--	--
GO:0005509	calcium ion binding	--	--
GO:0005515	protein binding	IPI	12620389
GO:0005524	ATP binding	IEA	--

CPS1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for CPS1:

Decreased Salmonella enterica

Animal Models:
Mouse knock-out Cps1^tm1Mw for CPS1
2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Cps1):

homeostasis/metabolism

mortality/aging

CPS1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Arginine and proline metabolism

Arginine and proline metabolism

1.00

Urea cycle and metabolism of amino groups

0.36

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

glutamate degradation X

urea cycle

0.00

Urea cycle

0.00

Metabolism of amino acids and derivatives

Metabolism of amino acids and derivatives

1.00

superpathway of citrulline metabolism

superpathway of citrulline metabolism

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

3 BioSystems Pathways for CPS1

	superpathway of citrulline metabolism
	Urea cycle and metabolism of amino groups
	urea cycle

3 Reactome Pathways for CPS1

	Metabolism
	Metabolism of amino acids and derivatives
	Urea cycle

4 Kegg Pathways (Kegg details for CPS1):

	Alanine, aspartate and glutamate metabolism
	Arginine and proline metabolism
	Nitrogen metabolism
	Metabolic pathways

CPS1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for CPS1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/84 Interacting proteins for CPS1 (P31327^{1, 2, 3} ENSP00000402608⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 84)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
YWHAZ	P63104²^,³, ENSP00000309503⁴	MINT-3296376 MINT-7900157 I2D: score=1 STRING: ENSP00000309503
ARAF	P10398¹^,³, ENSP00000366244⁴	EBI-536811,EBI-365961 I2D: score=3 STRING: ENSP00000366244
RAF1	P04049¹^,³, ENSP00000251849⁴	EBI-536811,EBI-365996 I2D: score=3 STRING: ENSP00000251849
YWHAQ	P27348²^,³, ENSP00000238081⁴	MINT-7900157 I2D: score=1 STRING: ENSP00000238081
H2AFX	P16104³, ENSP00000364310⁴	I2D: score=2 STRING: ENSP00000364310

About this table

Gene Ontology (GO): 5/35 biological process terms (GO ID links to tree view) (see all 35): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000050	urea cycle	TAS	--
GO:0001101	response to acid	--	--
GO:0001889	liver development	--	--
GO:0005980	glycogen catabolic process	IMP	9711878
GO:0006543	glutamine catabolic process	IEA	--

CPS1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CPS1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CPS1

9 HMDB Compounds for CPS1 About this table

Compound	Synonyms	CAS #	PubMed Ids
ADP	adenosindiphosphorsaeure (see all 8)	58-64-0	--
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--
Ammonia	NH3 (see all 31)	7664-41-7	--
Carbamoylphosphate	Carbamoylphosphate (see all 9)	590-55-6	--
Carbon dioxide	Carbon oxide (see all 5)	124-38-9	--
N-Acetyl-L-alanine	(S)-(-)-N-Acetylalanine (see all 8)	97-69-8	--
N-Acetylglutamic acid	2-acetamido-L-Glutaraldehydate (see all 23)	1188-37-0	--
Phosphate	NFB Orthophosphate (see all 13)	14265-44-2	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

1 DrugBank Compound for CPS1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Carglumic acid	(S)-2-ureidopentanedioic acid (see all 2)	1188-38-1	target	allosteric modulator	21207059 18516804 19106093

10/13 Novoseek chemical compound relationships for CPS1 gene (see all 13) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
carbamoyl phosphate	97.1	98	7744060 (5), 8382576 (5), 14718356 (4), 7567968 (3) (see all 54)
n-acetylglutamate	88.5	9	2318203 (2), 8663466 (2), 19754428 (1), 18666241 (1) (see all 6)
cpsi	88.2	5	15617192 (1), 17188582 (1), 19754428 (1), 15876373 (1)
urea	70.7	33	10917911 (4), 18666241 (2), 16824661 (1), 19272383 (1) (see all 18)
ornithine	68.2	9	9313001 (1), 11388595 (1), 17140418 (1), 20004862 (1) (see all 7)
citrulline	59.5	7	15216554 (1), 10917911 (1), 20520828 (1), 9862865 (1)
arginine	41.8	6	20520828 (3), 17597649 (1), 9862865 (1)
glutamine	39.5	3	9527969 (1), 9862865 (1), 12198645 (1)
carbamate	39.3	1	7744060 (1)
pyrimidine	26.2	1	9527969 (1)

3 PharmGKB related drug/compound annotations for CPS1 gene

Drug/compound	PharmGKB Annotation
phenylacetic acid	DL
sodium benzoate	DL
valproic acid	DL

About this table

Search CenterWatch for drugs/clinical trials and news about CPS1 / CPSM

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CPS1 gene (3 alternative transcripts):

NM_001122633.2 NM_001122634.2 NM_001875.4

Unigene Cluster for CPS1:

Carbamoyl-phosphate synthase 1, mitochondrial

Hs.149252 [show with all ESTs]

Unigene Representative Sequence: NM_001875

11 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000417946 ENST00000518043 ENST00000523702 ENST00000430249(uc010fur.3)

ENST00000233072(uc002vee.4) ENST00000497163 ENST00000451903(uc010fus.3)

ENST00000467353 ENST00000497121 ENST00000470791 ENST00000479988

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Additional cDNA sequence:

AB180933.1 AB180934.1 AB180935.1 AB180936.1 AB180937.1 AB180938.1 AB208800.1 AF154830.1

AK289749.1 AK302778.1 AK316425.1 AY317138.1 BC020695.1 BC058010.1 BC140943.1 BX537776.1

BX640601.1 D90282.1 Y15793.1

13 DOTS entries:

DT.217599 DT.91696438 DT.91756394 DT.101981079 DT.95202079 DT.95202080 DT.97770501 DT.102830385

DT.100797996 DT.91672972 DT.100797998 DT.87010958 DT.95268415

24/225 AceView cDNA sequences (see all 225):

BM821786 BQ011006 CB164088 AI207429 CB162657 BC020695 N69366 H73404

AL046241 H56078 BX480837 Y15793 AA393420 R07641 BX506125 CB157469

BG563090 AI174790 H71844 AL046242 AA333887 W78954 BV183435 AA342272

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CPS1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATGTTTGTGT

About this image

CPS1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

4 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Liver

Liver Lobule

Periportal Hepatocytes

Selective marker (cell-identifying gene)

Liver

Gut Tube

Midgut

Midgut Endoderm Cells

Endoderm

Heart

Atrioventricular Node

Atrioventricular Node Cells

Myocardium

Gut Tube

Midgut

Gut Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

Hepatocyte-like cells (Mouse embryonic stem...)

Beating cell clusters (Spontaneous differen...)

See CPS1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CPS1

SOURCE GeneReport for Unigene cluster: Hs.149252

UniProtKB/Swiss-Prot: CPSM_HUMAN, P31327

Tissue specificity: Primarily in the liver and small intestine

SABiosciences Expression via Pathway-Focused PCR Arrays including CPS1:

Hypertension in human mouse rat

Amino Acid Metabolism I in human mouse rat

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for CPS1 gene from 9/26 species (see all 26) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Cps1^{1 , 5}	carbamoyl-phosphate synthetase 1^{1, 5}	89.24(n)¹ 95.33(a)¹		1 (33.75 cM)⁵ 227231¹ NM_001080809.1¹ NP_001074278.1¹ 67123026⁵
chicken (Gallus gallus)	Aves	CPS1¹	carbamoyl-phosphate synthase 1, mitochondrial	76.59(n) 81.04(a)		428994 NM_001045841.1 NP_001039306.1
lizard (Anolis carolinensis)	Reptilia	CPS1⁶	--	79(a)	1 ↔ 1	1(113630559-113784982)
African clawed frog (Xenopus laevis)	Amphibia	Xl.24543²	Xenopus laevis transcribed sequence with moderate similarity more	76.02(n)		CB198969.2
zebrafish (Danio rerio)	Actinopterygii	cps1¹	carbamoyl-phosphate synthase 1, mitochondrial	69.41(n) 72.81(a)		555623 XM_678190.4 XP_683282.3
honey bee (Apis mellifera)	Insecta	--	--	23(a)	1 ↔ 1	GroupUn.7084(377-985)
thale cress (Arabidopsis thaliana)	eudicotyledons	CARB¹	carbamoyl phosphate synthetase B	48.78(n) 40.65(a)		839868 NM_102730.1 NP_564338.1
rice (Oryza sativa)	Liliopsida	Os01g0570700¹	hypothetical protein	44.52(n) 29.87(a)		4326346 NM_001049908.1 NP_001043373.1
E. coli (Escherichia coli)	Gamma proteobacteria	carB⁶	carbamoyl-phosphate synthase large subunit	40(a)	possible ortholog	Chromosome(30817-34038)

ENSEMBL Gene Tree for CPS1 (if available)
TreeFam Gene Tree for CPS1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for CPS1 gene

CAD²

1 SIMAP similar gene for CPS1 using alignment to 11 protein entries: CPSM_HUMAN (see all proteins):

CAD

CPS1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28940283^1,2	C	pathogenic	203302819(+)	`GAATCA/GTGGCT`	5	H R	mis¹ us2k¹ ese³		1		NA	2
rs121912595^1,2	C	pathogenic	203351034(+)	`CTGTGA/G/TTCCAT`	9	D G V	mis¹		1		NA	4548
rs73984630^1,2	C,F,	--	203187400(+)	`AAAGAG/AGCCCC`	1	--	us2k¹		5		WA CSA	128
rs115104544^1,2	C,F,	--	203187412(+)	`TTTTGC/TAACCC`	1	--	us2k¹		1		WA	118
rs6751922^1,2	H	--	203187593(+)	`TCTCTC/ATTACA`	1	--	us2k¹ trp³		4		NS EA	416
rs76195284^1,2		--	203187907(+)	`TTTTCC/TTTTCA`	1	--	us2k¹		0	--	--	--	--
rs3755181^1,2	C,F,	--	203188369(-)	`GAGGGA/GGTTGG`	1	--	us2k¹ trp³		1		EA	1484
rs112805372^1,2	C,	--	203188943(+)	`TTTCCA/TAAACT`	1	--	int¹		0	--	--	--	--
rs115462962^1,2	C,F,	--	203189125(+)	`TCTTTT/CAGTTT`	1	--	int¹		1		WA	118
rs72932405^1,2	C,F,	--	203189572(+)	`CTAAAC/TGGAAG`	1	--	int¹		1		NA	120

HapMap Linkage Disequilibrium report for CPS1 (211342406 - 211543831 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CPS1
1 CNV: 0271
Human Gene Mutation Database (HGMD): CPS1

Locus Specific Mutation Databases (LSDB): CPS1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CPS1 for disorders           About GeneDecksing

OMIM gene information: 608307
OMIM disorders: 237300  265380
UniProtKB/Swiss-Prot: CPSM_HUMAN, P31327

Defects in CPS1 are the cause of carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]. CPS1D is an

autosomal recessive disorder of the urea cycle causing hyperammonemia. Clinical features include protein intolerance,

intermittent ataxia, seizures, lethargy, developmental delay and mental retardation

Note=Genetic variations in CPS1 influence the availability of precursors for nitric oxide (NO) synthesis and

play a role in clinical situations where endogenous NO production is critically important, such as neonatal pulmonary

hypertension, increased pulmonary artery pressure following surgical repair of congenital heart defects or

hepatovenocclusive disease following bone marrow transplantation. Infants with neonatal pulmonary hypertension

homozygous for Thr-1406 have lower L-arginine concentrations than neonates homozygous for Asn-1406

20/26 diseases for CPS1 (see all 26): About MalaCards

venoocclusive disease after bone marrow transplantation (3) 1 pulmonary hypertension ornithine carbamoyltransferase deficiency hypertension

small intestine adenocarcinoma congenital heart defect metabolic disorders hyperinsulinism

crohn's disease kidney disease noma duodenitis

homocysteine hepatocellular carcinoma psoriasis adenocarcinoma

asthma ataxia hepatitis pneumonia

2 diseases from the University of Copenhagen DISEASES database for CPS1:

Carbamoyl phosphate synthetase I deficiency disease Ornithine carbamoyltransferase deficiency

4 Novoseek disease relationships for CPS1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hyperammonemia	82.7	14	9862865 (2), 19272383 (1), 19793055 (1), 15876373 (1) (see all 8)
ornithine transcarbamylase deficiency	70.6	2	11388595 (1), 20004862 (1)
metabolic disorder	14.4	3	12080609 (1), 9711878 (1)
hepatitis	0.289	1	8821709 (1)

Genatlas disease: CPS1

neonatal distress and hyperammonemia

Genetic Association Database (GAD): CPS1
Human Genome Epidemiology (HuGE) Navigator: CPS1 (90 documents)
Tumor Gene Database (TGDB): CPS1

Export disorders for CPS1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CPS1 gene, integrated from 9 sources (see all 118):
(articles sorted by number of sources associating them with CPS1)

Utopia: connect your pdf to the dynamic
world of online information

Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1. (PubMed id 9711878)^{1, 2, 9} Finckh U....Gal A. (1998)
Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions. (PubMed id 12955727)^{1, 2, 9} Funghini S.... Morrone A. (2003)
The T1405N carbamoyl phosphate synthetase polymorphis m does not affect plasma arginine concentrations in preterm infants. (PubMed id 20520828)^{1, 2, 9} Moonen R.M....Villamor E. (2010)
Relationship between carbamoyl-phosphate synthetase genotype and systemic vascular function. (PubMed id 14718356)^{1, 4, 9} Summar M.L....Brown N.J. (2004)
Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency. (PubMed id 11474210)^{1, 2, 9} Aoshima T.... Niwa T. (2001)
Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients. (PubMed id 15617192)^{1, 2, 9} Wakutani Y.... Nakashima K. (2004)
Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset. (PubMed id 12655559)^{1, 2, 9} Haeberle J.... Koch H.G. (2003)
Structural insight on the control of urea synthesis: identification of the binding site for N-acetyl-L-glutamate, the essential allo steric activator of mitochondrial carbamoyl phosphate synthetase. (PubMed id 19754428)^{1, 2, 9} Pekkala S....Cervera J. (2009)
Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations. (PubMed id 21120950)^{1, 2} Haberle J.... Summar M. (2011)
Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis. (PubMed id 20578160)^{1, 2} Pekkala S....Cervera J. (2010)

(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, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1373	HGNC: 2323	AceView: CPS1	Ensembl:ENSG00000021826	euGenes: HUgn1373
ECgene: CPS1	Kegg: 1373	H-InvDB: CPS1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CPS1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CPS1

Intellectual Property for CPS1 gene
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Patent Information for CPS1 gene:
Search GeneIP for patents involving CPS1

GeneCards and IP:
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CPS1 Gene

carbamoyl-phosphate synthase 1, mitochondrial

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CPS1 Gene

carbamoyl-phosphate synthase 1, mitochondrial

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