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Protein

Argininosuccinate synthase

Gene

ASS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Is indirectly involved in the control of blood pressure.By similarity

Catalytic activityi

ATP + L-citrulline + L-aspartate = AMP + diphosphate + N(omega)-(L-arginino)succinate.

Pathwayi: L-arginine biosynthesis

This protein is involved in step 2 of the subpathway that synthesizes L-arginine from L-ornithine and carbamoyl phosphate.
Proteins known to be involved in the 3 steps of the subpathway in this organism are:
  1. no protein annotated in this organism
  2. Argininosuccinate synthase (ASS1)
  3. Argininosuccinate lyase (ASL)
This subpathway is part of the pathway L-arginine biosynthesis, which is itself part of Amino-acid biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes L-arginine from L-ornithine and carbamoyl phosphate, the pathway L-arginine biosynthesis and in Amino-acid biosynthesis.

Pathwayi: urea cycle

This protein is involved in step 1 of the subpathway that synthesizes (N(omega)-L-arginino)succinate from L-aspartate and L-citrulline.
Proteins known to be involved in this subpathway in this organism are:
  1. Argininosuccinate synthase (ASS1)
This subpathway is part of the pathway urea cycle, which is itself part of Nitrogen metabolism.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes (N(omega)-L-arginino)succinate from L-aspartate and L-citrulline, the pathway urea cycle and in Nitrogen metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei36ATP; via amide nitrogen and carbonyl oxygenBy similarity1
Binding sitei87Citrulline1 Publication1
Binding sitei92Citrulline1 Publication1
Binding sitei119Aspartate1 Publication1
Binding sitei123Aspartate1 Publication1
Binding sitei123Citrulline1 Publication1
Binding sitei124Aspartate1 Publication1
Binding sitei127Citrulline1 Publication1
Binding sitei180Citrulline1 Publication1
Binding sitei189Citrulline1 Publication1
Binding sitei270Citrulline1 Publication1
Binding sitei282Citrulline1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi10 – 18ATPBy similarity9
Nucleotide bindingi115 – 123ATPBy similarity9

GO - Molecular functioni

  • amino acid binding Source: BHF-UCL
  • argininosuccinate synthase activity Source: BHF-UCL
  • ATP binding Source: UniProtKB-KW
  • poly(A) RNA binding Source: UniProtKB
  • toxic substance binding Source: Ensembl

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Ligase

Keywords - Biological processi

Amino-acid biosynthesis, Arginine biosynthesis, Urea cycle

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS05425-MONOMER.
ZFISH:HS05425-MONOMER.
BRENDAi6.3.4.5. 2681.
ReactomeiR-HSA-70635. Urea cycle.
SABIO-RKP00966.
UniPathwayiUPA00068; UER00113.
UPA00158; UER00272.

Names & Taxonomyi

Protein namesi
Recommended name:
Argininosuccinate synthase (EC:6.3.4.5)
Alternative name(s):
Citrulline--aspartate ligase
Gene namesi
Name:ASS1
Synonyms:ASS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:758. ASS1.

Subcellular locationi

GO - Cellular componenti

  • cell body fiber Source: Ensembl
  • cytoplasm Source: ProtInc
  • cytosol Source: Reactome
  • endoplasmic reticulum Source: Ensembl
  • extracellular exosome Source: UniProtKB
  • lysosome Source: Ensembl
  • mitochondrial outer membrane Source: Ensembl
  • nucleus Source: Ensembl
  • perikaryon Source: Ensembl
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Citrullinemia 1 (CTLN1)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionThe classic form of citrullinemia, an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. It is a disorder of the urea cycle, usually manifesting 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 form can develop later in childhood or adulthood.
See also OMIM:215700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00068114G → S in CTLN1. 2 PublicationsCorresponds to variant rs121908636dbSNPEnsembl.1
Natural variantiVAR_00068218S → L in CTLN1. 1 PublicationCorresponds to variant rs121908643dbSNPEnsembl.1
Natural variantiVAR_01589119C → R in CTLN1. 1 Publication1
Natural variantiVAR_05833740Q → L in CTLN1. 1 Publication1
Natural variantiVAR_01601369V → A in CTLN1. 1 PublicationCorresponds to variant rs771594651dbSNPEnsembl.1
Natural variantiVAR_05833879S → P in CTLN1. 1
Natural variantiVAR_00068386R → C in CTLN1. 1 PublicationCorresponds to variant rs121908644dbSNPEnsembl.1
Natural variantiVAR_01589286R → H in CTLN1. 1 PublicationCorresponds to variant rs575001023dbSNPEnsembl.1
Natural variantiVAR_01589395R → S in CTLN1. 1 Publication1
Natural variantiVAR_05833996P → H in CTLN1. 1
Natural variantiVAR_01589496P → S in CTLN1. 1 Publication1
Natural variantiVAR_016014108R → L in CTLN1. 2 PublicationsCorresponds to variant rs35269064dbSNPEnsembl.1
Natural variantiVAR_015896117G → D in CTLN1. 2 Publications1
Natural variantiVAR_015895117G → S in CTLN1. 1 PublicationCorresponds to variant rs770944877dbSNPEnsembl.1
Natural variantiVAR_000684118A → T in CTLN1. 1 PublicationCorresponds to variant rs775305020dbSNPEnsembl.1
Natural variantiVAR_016015119T → I in CTLN1. 1 Publication1
Natural variantiVAR_058340124D → N in CTLN1. 1 Publication1
Natural variantiVAR_058341127R → Q in CTLN1. 1 PublicationCorresponds to variant rs201623252dbSNPEnsembl.1
Natural variantiVAR_058342127R → W in CTLN1; severe clinical course. Corresponds to variant rs771794639dbSNPEnsembl.1
Natural variantiVAR_072792141V → G in CTLN1. 1 Publication1
Natural variantiVAR_015897157R → C in CTLN1. 1 PublicationCorresponds to variant rs770585183dbSNPEnsembl.1
Natural variantiVAR_000685157R → H in CTLN1. 2 PublicationsCorresponds to variant rs121908637dbSNPEnsembl.1
Natural variantiVAR_058343160L → P in CTLN1. 1
Natural variantiVAR_015898179W → R in CTLN1; mild. 3 PublicationsCorresponds to variant rs121908646dbSNPEnsembl.1
Natural variantiVAR_000686180S → N in CTLN1. 1 PublicationCorresponds to variant rs121908638dbSNPEnsembl.1
Natural variantiVAR_058344190Y → D in CTLN1. 1 Publication1
Natural variantiVAR_015899191E → K in CTLN1. 1 PublicationCorresponds to variant rs777828000dbSNPEnsembl.1
Natural variantiVAR_058345191E → Q in CTLN1. 1
Natural variantiVAR_000687192A → V in CTLN1. 1 Publication1
Natural variantiVAR_058346202A → E in CTLN1. Corresponds to variant rs376371866dbSNPEnsembl.1
Natural variantiVAR_058347206L → P in CTLN1. 1
Natural variantiVAR_058348263V → M in CTLN1; mild clinical course. 1 PublicationCorresponds to variant rs192838388dbSNPEnsembl.1
Natural variantiVAR_058349265R → C in CTLN1; severe clinical course. 1 PublicationCorresponds to variant rs148918985dbSNPEnsembl.1
Natural variantiVAR_015900265R → H in CTLN1. 1 PublicationCorresponds to variant rs398123131dbSNPEnsembl.1
Natural variantiVAR_015901269V → M in CTLN1. 2 PublicationsCorresponds to variant rs370595480dbSNPEnsembl.1
Natural variantiVAR_016007270E → Q in CTLN1. 2 PublicationsCorresponds to variant rs775163147dbSNPEnsembl.1
Natural variantiVAR_000688272R → C in CTLN1. 2 PublicationsCorresponds to variant rs762387914dbSNPEnsembl.1
Natural variantiVAR_058350277K → T in CTLN1. 1
Natural variantiVAR_016008279R → Q in CTLN1. 1 PublicationCorresponds to variant rs371265106dbSNPEnsembl.1
Natural variantiVAR_000689280G → R in CTLN1. 1 Publication1
Natural variantiVAR_015902283E → K in CTLN1. 2 PublicationsCorresponds to variant rs765338121dbSNPEnsembl.1
Natural variantiVAR_058351284T → I in CTLN1; mild clinical course. 1
Natural variantiVAR_058352291Y → S in CTLN1. 1
Natural variantiVAR_058353296D → G in CTLN1. 1
Natural variantiVAR_058354302M → V in CTLN1. 1
Natural variantiVAR_000690304R → W in CTLN1. 3 PublicationsCorresponds to variant rs121908642dbSNPEnsembl.1
Natural variantiVAR_058355307R → C in CTLN1. Corresponds to variant rs183276875dbSNPEnsembl.1
Natural variantiVAR_016009310K → Q in CTLN1. 1 PublicationCorresponds to variant rs121908648dbSNPEnsembl.1
Natural variantiVAR_015903310K → R in CTLN1. Corresponds to variant rs199751308dbSNPEnsembl.1
Natural variantiVAR_000691324G → S in CTLN1. 4 PublicationsCorresponds to variant rs121908639dbSNPEnsembl.1
Natural variantiVAR_058356324G → V in CTLN1. 1
Natural variantiVAR_058357341S → F in CTLN1. 1
Natural variantiVAR_058358345V → G in CTLN1. 1
Natural variantiVAR_058359347G → R in CTLN1; severe clinical course. 1
Natural variantiVAR_058360359Y → D in CTLN1; mild clinical course. 1
Natural variantiVAR_015904362G → V in CTLN1; mild. 3 PublicationsCorresponds to variant rs121908647dbSNPEnsembl.1
Natural variantiVAR_016010363R → G in CTLN1. 1 Publication1
Natural variantiVAR_000692363R → L in CTLN1. 1 Publication1
Natural variantiVAR_016011363R → Q in CTLN1. 1 PublicationCorresponds to variant rs771937610dbSNPEnsembl.1
Natural variantiVAR_000693363R → W in CTLN1. 2 PublicationsCorresponds to variant rs121908640dbSNPEnsembl.1
Natural variantiVAR_016012389T → I in CTLN1. 1 Publication1
Natural variantiVAR_000694390G → R in CTLN1. 5 PublicationsCorresponds to variant rs121908641dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi445.
MalaCardsiASS1.
MIMi215700. phenotype.
OpenTargetsiENSG00000130707.
Orphaneti247546. Acute neonatal citrullinemia type I.
247573. Adult-onset citrullinemia type I.
PharmGKBiPA162376926.

Chemistry databases

DrugBankiDB00171. Adenosine triphosphate.
DB00125. L-Arginine.
DB00128. L-Aspartic Acid.
DB00155. L-Citrulline.

Polymorphism and mutation databases

BioMutaiASS1.
DMDMi20141195.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001485541 – 412Argininosuccinate synthaseAdd BLAST412

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei87PhosphotyrosineBy similarity1
Modified residuei113PhosphotyrosineCombined sources1
Modified residuei180PhosphoserineCombined sources1
Modified residuei219PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP00966.
PaxDbiP00966.
PeptideAtlasiP00966.
PRIDEiP00966.

PTM databases

iPTMnetiP00966.
PhosphoSitePlusiP00966.

Expressioni

Gene expression databases

BgeeiENSG00000130707.
CleanExiHS_ASS1.
ExpressionAtlasiP00966. baseline and differential.
GenevisibleiP00966. HS.

Organism-specific databases

HPAiHPA020896.
HPA020934.

Interactioni

Subunit structurei

Homotetramer. Interacts with NMRAL1.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
itself3EBI-536842,EBI-536842
ARAFP103984EBI-536842,EBI-365961

Protein-protein interaction databases

BioGridi106937. 86 interactors.
DIPiDIP-34055N.
IntActiP00966. 24 interactors.
MINTiMINT-5000467.
STRINGi9606.ENSP00000253004.

Structurei

Secondary structure

1412
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi5 – 10Combined sources6
Helixi15 – 26Combined sources12
Beta strandi29 – 39Combined sources11
Helixi44 – 54Combined sources11
Beta strandi57 – 63Combined sources7
Helixi65 – 71Combined sources7
Helixi73 – 78Combined sources6
Turni84 – 86Combined sources3
Turni90 – 93Combined sources4
Helixi94 – 109Combined sources16
Beta strandi112 – 115Combined sources4
Helixi124 – 135Combined sources12
Beta strandi140 – 142Combined sources3
Helixi144 – 146Combined sources3
Helixi148 – 151Combined sources4
Helixi158 – 166Combined sources9
Beta strandi181 – 183Combined sources3
Beta strandi188 – 190Combined sources3
Helixi193 – 196Combined sources4
Helixi204 – 206Combined sources3
Turni213 – 215Combined sources3
Beta strandi221 – 228Combined sources8
Beta strandi231 – 237Combined sources7
Turni238 – 240Combined sources3
Helixi247 – 261Combined sources15
Beta strandi265 – 271Combined sources7
Beta strandi277 – 283Combined sources7
Helixi285 – 301Combined sources17
Helixi304 – 323Combined sources20
Beta strandi326 – 328Combined sources3
Helixi329 – 341Combined sources13
Turni342 – 344Combined sources3
Beta strandi347 – 354Combined sources8
Beta strandi357 – 364Combined sources8
Helixi372 – 375Combined sources4
Helixi385 – 404Combined sources20

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2NZ2X-ray2.40A1-412[»]
ProteinModelPortaliP00966.
SMRiP00966.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP00966.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1706. Eukaryota.
COG0137. LUCA.
GeneTreeiENSGT00390000004524.
HOGENOMiHOG000230093.
HOVERGENiHBG001717.
InParanoidiP00966.
KOiK01940.
OMAiQCEVVTF.
OrthoDBiEOG091G0AIR.
PhylomeDBiP00966.
TreeFamiTF300736.

Family and domain databases

CDDicd01999. Argininosuccinate_Synthase. 1 hit.
Gene3Di3.40.50.620. 1 hit.
3.90.1260.10. 1 hit.
HAMAPiMF_00005. Arg_succ_synth_type1. 1 hit.
InterProiIPR001518. Arginosuc_synth.
IPR018223. Arginosuc_synth_CS.
IPR023434. Arginosuc_synth_type_1_subfam.
IPR024074. AS_cat/multimer_dom_body.
IPR014729. Rossmann-like_a/b/a_fold.
[Graphical view]
PfamiPF00764. Arginosuc_synth. 1 hit.
[Graphical view]
TIGRFAMsiTIGR00032. argG. 1 hit.
PROSITEiPS00564. ARGININOSUCCIN_SYN_1. 1 hit.
PS00565. ARGININOSUCCIN_SYN_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P00966-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSSKGSVVLA YSGGLDTSCI LVWLKEQGYD VIAYLANIGQ KEDFEEARKK
60 70 80 90 100
ALKLGAKKVF IEDVSREFVE EFIWPAIQSS ALYEDRYLLG TSLARPCIAR
110 120 130 140 150
KQVEIAQREG AKYVSHGATG KGNDQVRFEL SCYSLAPQIK VIAPWRMPEF
160 170 180 190 200
YNRFKGRNDL MEYAKQHGIP IPVTPKNPWS MDENLMHISY EAGILENPKN
210 220 230 240 250
QAPPGLYTKT QDPAKAPNTP DILEIEFKKG VPVKVTNVKD GTTHQTSLEL
260 270 280 290 300
FMYLNEVAGK HGVGRIDIVE NRFIGMKSRG IYETPAGTIL YHAHLDIEAF
310 320 330 340 350
TMDREVRKIK QGLGLKFAEL VYTGFWHSPE CEFVRHCIAK SQERVEGKVQ
360 370 380 390 400
VSVLKGQVYI LGRESPLSLY NEELVSMNVQ GDYEPTDATG FININSLRLK
410
EYHRLQSKVT AK
Length:412
Mass (Da):46,530
Last modified:April 3, 2002 - v2
Checksum:i47CAD2373AE47E47
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti325 – 327FWH → LRP in CAA25771 (PubMed:6194510).Curated3
Sequence conflicti325 – 327FWH → LRP in AAA51783 (PubMed:6321498).Curated3

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00068114G → S in CTLN1. 2 PublicationsCorresponds to variant rs121908636dbSNPEnsembl.1
Natural variantiVAR_00068218S → L in CTLN1. 1 PublicationCorresponds to variant rs121908643dbSNPEnsembl.1
Natural variantiVAR_01589119C → R in CTLN1. 1 Publication1
Natural variantiVAR_05833740Q → L in CTLN1. 1 Publication1
Natural variantiVAR_05042765S → I.Corresponds to variant rs2229556dbSNPEnsembl.1
Natural variantiVAR_01601369V → A in CTLN1. 1 PublicationCorresponds to variant rs771594651dbSNPEnsembl.1
Natural variantiVAR_05833879S → P in CTLN1. 1
Natural variantiVAR_00068386R → C in CTLN1. 1 PublicationCorresponds to variant rs121908644dbSNPEnsembl.1
Natural variantiVAR_01589286R → H in CTLN1. 1 PublicationCorresponds to variant rs575001023dbSNPEnsembl.1
Natural variantiVAR_01589395R → S in CTLN1. 1 Publication1
Natural variantiVAR_05833996P → H in CTLN1. 1
Natural variantiVAR_01589496P → S in CTLN1. 1 Publication1
Natural variantiVAR_016014108R → L in CTLN1. 2 PublicationsCorresponds to variant rs35269064dbSNPEnsembl.1
Natural variantiVAR_015896117G → D in CTLN1. 2 Publications1
Natural variantiVAR_015895117G → S in CTLN1. 1 PublicationCorresponds to variant rs770944877dbSNPEnsembl.1
Natural variantiVAR_000684118A → T in CTLN1. 1 PublicationCorresponds to variant rs775305020dbSNPEnsembl.1
Natural variantiVAR_016015119T → I in CTLN1. 1 Publication1
Natural variantiVAR_058340124D → N in CTLN1. 1 Publication1
Natural variantiVAR_058341127R → Q in CTLN1. 1 PublicationCorresponds to variant rs201623252dbSNPEnsembl.1
Natural variantiVAR_058342127R → W in CTLN1; severe clinical course. Corresponds to variant rs771794639dbSNPEnsembl.1
Natural variantiVAR_072792141V → G in CTLN1. 1 Publication1
Natural variantiVAR_015897157R → C in CTLN1. 1 PublicationCorresponds to variant rs770585183dbSNPEnsembl.1
Natural variantiVAR_000685157R → H in CTLN1. 2 PublicationsCorresponds to variant rs121908637dbSNPEnsembl.1
Natural variantiVAR_058343160L → P in CTLN1. 1
Natural variantiVAR_015898179W → R in CTLN1; mild. 3 PublicationsCorresponds to variant rs121908646dbSNPEnsembl.1
Natural variantiVAR_000686180S → N in CTLN1. 1 PublicationCorresponds to variant rs121908638dbSNPEnsembl.1
Natural variantiVAR_058344190Y → D in CTLN1. 1 Publication1
Natural variantiVAR_015899191E → K in CTLN1. 1 PublicationCorresponds to variant rs777828000dbSNPEnsembl.1
Natural variantiVAR_058345191E → Q in CTLN1. 1
Natural variantiVAR_000687192A → V in CTLN1. 1 Publication1
Natural variantiVAR_058346202A → E in CTLN1. Corresponds to variant rs376371866dbSNPEnsembl.1
Natural variantiVAR_058347206L → P in CTLN1. 1
Natural variantiVAR_058348263V → M in CTLN1; mild clinical course. 1 PublicationCorresponds to variant rs192838388dbSNPEnsembl.1
Natural variantiVAR_058349265R → C in CTLN1; severe clinical course. 1 PublicationCorresponds to variant rs148918985dbSNPEnsembl.1
Natural variantiVAR_015900265R → H in CTLN1. 1 PublicationCorresponds to variant rs398123131dbSNPEnsembl.1
Natural variantiVAR_015901269V → M in CTLN1. 2 PublicationsCorresponds to variant rs370595480dbSNPEnsembl.1
Natural variantiVAR_016007270E → Q in CTLN1. 2 PublicationsCorresponds to variant rs775163147dbSNPEnsembl.1
Natural variantiVAR_000688272R → C in CTLN1. 2 PublicationsCorresponds to variant rs762387914dbSNPEnsembl.1
Natural variantiVAR_058350277K → T in CTLN1. 1
Natural variantiVAR_016008279R → Q in CTLN1. 1 PublicationCorresponds to variant rs371265106dbSNPEnsembl.1
Natural variantiVAR_000689280G → R in CTLN1. 1 Publication1
Natural variantiVAR_015902283E → K in CTLN1. 2 PublicationsCorresponds to variant rs765338121dbSNPEnsembl.1
Natural variantiVAR_058351284T → I in CTLN1; mild clinical course. 1
Natural variantiVAR_058352291Y → S in CTLN1. 1
Natural variantiVAR_058353296D → G in CTLN1. 1
Natural variantiVAR_058354302M → V in CTLN1. 1
Natural variantiVAR_000690304R → W in CTLN1. 3 PublicationsCorresponds to variant rs121908642dbSNPEnsembl.1
Natural variantiVAR_058355307R → C in CTLN1. Corresponds to variant rs183276875dbSNPEnsembl.1
Natural variantiVAR_016009310K → Q in CTLN1. 1 PublicationCorresponds to variant rs121908648dbSNPEnsembl.1
Natural variantiVAR_015903310K → R in CTLN1. Corresponds to variant rs199751308dbSNPEnsembl.1
Natural variantiVAR_000691324G → S in CTLN1. 4 PublicationsCorresponds to variant rs121908639dbSNPEnsembl.1
Natural variantiVAR_058356324G → V in CTLN1. 1
Natural variantiVAR_058357341S → F in CTLN1. 1
Natural variantiVAR_058358345V → G in CTLN1. 1
Natural variantiVAR_058359347G → R in CTLN1; severe clinical course. 1
Natural variantiVAR_058360359Y → D in CTLN1; mild clinical course. 1
Natural variantiVAR_015904362G → V in CTLN1; mild. 3 PublicationsCorresponds to variant rs121908647dbSNPEnsembl.1
Natural variantiVAR_016010363R → G in CTLN1. 1 Publication1
Natural variantiVAR_000692363R → L in CTLN1. 1 Publication1
Natural variantiVAR_016011363R → Q in CTLN1. 1 PublicationCorresponds to variant rs771937610dbSNPEnsembl.1
Natural variantiVAR_000693363R → W in CTLN1. 2 PublicationsCorresponds to variant rs121908640dbSNPEnsembl.1
Natural variantiVAR_016012389T → I in CTLN1. 1 Publication1
Natural variantiVAR_000694390G → R in CTLN1. 5 PublicationsCorresponds to variant rs121908641dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X01630 mRNA. Translation: CAA25771.1.
L00084
, L00079, L00080, L00081, L00082, L00083 Genomic DNA. Translation: AAA51783.1.
AY034076 Genomic DNA. Translation: AAK67487.1.
AK027126 mRNA. No translation available.
BC009243 mRNA. Translation: AAH09243.1.
BC021676 mRNA. Translation: AAH21676.1.
M34903 Genomic DNA. Translation: AAA51782.1.
CCDSiCCDS6933.1.
PIRiA01195. AJHURS.
RefSeqiNP_000041.2. NM_000050.4.
NP_446464.1. NM_054012.3.
XP_005272257.1. XM_005272200.3.
UniGeneiHs.160786.

Genome annotation databases

EnsembliENST00000352480; ENSP00000253004; ENSG00000130707.
ENST00000372393; ENSP00000361469; ENSG00000130707.
ENST00000372394; ENSP00000361471; ENSG00000130707.
GeneIDi445.
KEGGihsa:445.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X01630 mRNA. Translation: CAA25771.1.
L00084
, L00079, L00080, L00081, L00082, L00083 Genomic DNA. Translation: AAA51783.1.
AY034076 Genomic DNA. Translation: AAK67487.1.
AK027126 mRNA. No translation available.
BC009243 mRNA. Translation: AAH09243.1.
BC021676 mRNA. Translation: AAH21676.1.
M34903 Genomic DNA. Translation: AAA51782.1.
CCDSiCCDS6933.1.
PIRiA01195. AJHURS.
RefSeqiNP_000041.2. NM_000050.4.
NP_446464.1. NM_054012.3.
XP_005272257.1. XM_005272200.3.
UniGeneiHs.160786.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2NZ2X-ray2.40A1-412[»]
ProteinModelPortaliP00966.
SMRiP00966.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106937. 86 interactors.
DIPiDIP-34055N.
IntActiP00966. 24 interactors.
MINTiMINT-5000467.
STRINGi9606.ENSP00000253004.

Chemistry databases

DrugBankiDB00171. Adenosine triphosphate.
DB00125. L-Arginine.
DB00128. L-Aspartic Acid.
DB00155. L-Citrulline.

PTM databases

iPTMnetiP00966.
PhosphoSitePlusiP00966.

Polymorphism and mutation databases

BioMutaiASS1.
DMDMi20141195.

Proteomic databases

EPDiP00966.
PaxDbiP00966.
PeptideAtlasiP00966.
PRIDEiP00966.

Protocols and materials databases

DNASUi445.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000352480; ENSP00000253004; ENSG00000130707.
ENST00000372393; ENSP00000361469; ENSG00000130707.
ENST00000372394; ENSP00000361471; ENSG00000130707.
GeneIDi445.
KEGGihsa:445.

Organism-specific databases

CTDi445.
DisGeNETi445.
GeneCardsiASS1.
GeneReviewsiASS1.
H-InvDBHIX0025782.
HGNCiHGNC:758. ASS1.
HPAiHPA020896.
HPA020934.
MalaCardsiASS1.
MIMi215700. phenotype.
603470. gene.
neXtProtiNX_P00966.
OpenTargetsiENSG00000130707.
Orphaneti247546. Acute neonatal citrullinemia type I.
247573. Adult-onset citrullinemia type I.
PharmGKBiPA162376926.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1706. Eukaryota.
COG0137. LUCA.
GeneTreeiENSGT00390000004524.
HOGENOMiHOG000230093.
HOVERGENiHBG001717.
InParanoidiP00966.
KOiK01940.
OMAiQCEVVTF.
OrthoDBiEOG091G0AIR.
PhylomeDBiP00966.
TreeFamiTF300736.

Enzyme and pathway databases

UniPathwayiUPA00068; UER00113.
UPA00158; UER00272.
BioCyciMetaCyc:HS05425-MONOMER.
ZFISH:HS05425-MONOMER.
BRENDAi6.3.4.5. 2681.
ReactomeiR-HSA-70635. Urea cycle.
SABIO-RKP00966.

Miscellaneous databases

EvolutionaryTraceiP00966.
GeneWikiiArgininosuccinate_synthetase_1.
GenomeRNAii445.
PROiP00966.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000130707.
CleanExiHS_ASS1.
ExpressionAtlasiP00966. baseline and differential.
GenevisibleiP00966. HS.

Family and domain databases

CDDicd01999. Argininosuccinate_Synthase. 1 hit.
Gene3Di3.40.50.620. 1 hit.
3.90.1260.10. 1 hit.
HAMAPiMF_00005. Arg_succ_synth_type1. 1 hit.
InterProiIPR001518. Arginosuc_synth.
IPR018223. Arginosuc_synth_CS.
IPR023434. Arginosuc_synth_type_1_subfam.
IPR024074. AS_cat/multimer_dom_body.
IPR014729. Rossmann-like_a/b/a_fold.
[Graphical view]
PfamiPF00764. Arginosuc_synth. 1 hit.
[Graphical view]
TIGRFAMsiTIGR00032. argG. 1 hit.
PROSITEiPS00564. ARGININOSUCCIN_SYN_1. 1 hit.
PS00565. ARGININOSUCCIN_SYN_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiASSY_HUMAN
AccessioniPrimary (citable) accession number: P00966
Secondary accession number(s): Q6LDL2, Q86UZ0, Q96GT4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: April 3, 2002
Last modified: November 2, 2016
This is version 191 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.