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UniProtKB - P00966 (ASSY_HUMAN)

Protein

Argininosuccinate synthase

Gene

ASS1

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

Functioni

One of the enzymes of the urea cycle, the metabolic pathway transforming neurotoxic amonia produced by protein catabolism into inocuous urea in the liver of ureotelic animals. Catalyzes the formation of arginosuccinate from aspartate, citrulline and ATP and together with ASL it is responsible for the biosynthesis of arginine in most body tissues.3 Publications

Catalytic activityi

ATP + L-citrulline + L-aspartate = AMP + diphosphate + N(omega)-(L-arginino)succinate.3 Publications

Kineticsi

  1. KM=112 µM for citrulline (at pH 7.0 and 37 degrees Celsius)1 Publication
  2. KM=68 µM for aspartate (at pH 7.0 and 37 degrees Celsius)1 Publication
  1. Vmax=143 nmol/min/mg enzyme toward citrulline (at pH 7.0 and 37 degrees Celsius)1 Publication
  2. Vmax=116 nmol/min/mg enzyme toward aspartate (at pH 7.0 and 37 degrees1 Publication

Pathwayi: L-arginine biosynthesis

This protein is involved in step 2 of the subpathway that synthesizes L-arginine from L-ornithine and carbamoyl phosphate.3 Publications
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.3 Publications
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: UniProtKB
  • ATP binding Source: UniProtKB-KW
  • identical protein binding Source: IntAct
  • RNA binding Source: UniProtKB
  • toxic substance binding Source: Ensembl
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionLigase
Biological processAmino-acid biosynthesis, Arginine biosynthesis, Urea cycle
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS05425-MONOMER
BRENDAi6.3.4.5 2681
ReactomeiR-HSA-70635 Urea cycle
SABIO-RKiP00966
UniPathwayi
UPA00068;UER00113

UPA00158;UER00272

Names & Taxonomyi

Protein namesi
Recommended name:
Argininosuccinate synthaseCurated (EC:6.3.4.53 Publications)
Alternative name(s):
Citrulline--aspartate ligase
Gene namesi
Name:ASS1Imported
Synonyms:ASSImported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000130707.17
HGNCiHGNC:758 ASS1
MIMi603470 gene
neXtProtiNX_P00966

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Citrullinemia 1 (CTLN1)16 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 dbSNP:rs121908636EnsemblClinVar.1
Natural variantiVAR_00068218S → L in CTLN1. 1 PublicationCorresponds to variant dbSNP:rs121908643EnsemblClinVar.1
Natural variantiVAR_01589119C → R in CTLN1. 1 Publication1
Natural variantiVAR_07838727 – 412Missing in CTLN1. 1 PublicationAdd BLAST386
Natural variantiVAR_05833740Q → L in CTLN1. 1 Publication1
Natural variantiVAR_07838864V → I in CTLN1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs556297791EnsemblClinVar.1
Natural variantiVAR_01601369V → A in CTLN1. 1 PublicationCorresponds to variant dbSNP:rs771594651Ensembl.1
Natural variantiVAR_05833879S → P in CTLN1. 2 Publications1
Natural variantiVAR_00068386R → C in CTLN1. 1 PublicationCorresponds to variant dbSNP:rs121908644EnsemblClinVar.1
Natural variantiVAR_01589286R → H in CTLN1. 1 PublicationCorresponds to variant dbSNP:rs575001023EnsemblClinVar.1
Natural variantiVAR_07838991T → P in CTLN1; decreased affinity for aspartate; decreased affinity for citrulline; decreased argininosuccinate synthase activity. 2 PublicationsCorresponds to variant dbSNP:rs769018733Ensembl.1
Natural variantiVAR_01589395R → S in CTLN1; increased thermal stability; loss of argininosuccinate synthase activity. 2 Publications1
Natural variantiVAR_05833996P → H in CTLN1; decreased affinity for aspartate; decreased affinity for citrulline; decreased argininosuccinate synthase activity. 2 Publications1
Natural variantiVAR_07839096P → L in CTLN1; decreased thermal stability; decreased affinity for aspartate; decreased affinity for citrulline; loss of argininosuccinate synthase activity. 1 Publication1
Natural variantiVAR_01589496P → S in CTLN1; no effect on thermal stability; decreased argininosuccinate synthase activity. 2 Publications1
Natural variantiVAR_07839197 – 412Missing in CTLN1. 1 PublicationAdd BLAST316
Natural variantiVAR_078392100R → C in CTLN1. 1 PublicationCorresponds to variant dbSNP:rs370695114EnsemblClinVar.1
Natural variantiVAR_078393100R → H in CTLN1. 1 PublicationCorresponds to variant dbSNP:rs138279074EnsemblClinVar.1
Natural variantiVAR_016014108R → L in CTLN1. 2 PublicationsCorresponds to variant dbSNP:rs35269064EnsemblClinVar.1
Natural variantiVAR_078394111A → D in CTLN1. 1 Publication1
Natural variantiVAR_078395117G → C in CTLN1. 1 Publication1
Natural variantiVAR_015896117G → D in CTLN1. 2 Publications1
Natural variantiVAR_015895117G → S in CTLN1; decreased thermal stability; loss of argininosuccinate synthase activity. 2 PublicationsCorresponds to variant dbSNP:rs770944877EnsemblClinVar.1
Natural variantiVAR_000684118A → T in CTLN1; decreased thermal stability; decreased affinity for aspartate; decreased affinity for citrulline; decreased argininosuccinate synthase activity. 3 PublicationsCorresponds to variant dbSNP:rs775305020Ensembl.1
Natural variantiVAR_016015119T → I in CTLN1; decreased thermal stability; loss of argininosuccinate synthase activity. 2 Publications1
Natural variantiVAR_058340124D → N in CTLN1; loss of argininosuccinate synthase activity. 2 PublicationsCorresponds to variant dbSNP:rs936192871EnsemblClinVar.1
Natural variantiVAR_058341127R → Q in CTLN1; increased thermal stability; loss of argininosuccinate synthase activity. 3 PublicationsCorresponds to variant dbSNP:rs201623252EnsemblClinVar.1
Natural variantiVAR_058342127R → W in CTLN1; severe clinical course; loss of argininosuccinate synthase activity. 2 PublicationsCorresponds to variant dbSNP:rs771794639EnsemblClinVar.1
Natural variantiVAR_078397138 – 412Missing in CTLN1. 1 PublicationAdd BLAST275
Natural variantiVAR_072792141V → G in CTLN1. 1 PublicationCorresponds to variant dbSNP:rs1184442048Ensembl.1
Natural variantiVAR_015897157R → C in CTLN1; decreased thermal stability; loss of argininosuccinate synthase activity. 3 PublicationsCorresponds to variant dbSNP:rs770585183Ensembl.1
Natural variantiVAR_000685157R → H in CTLN1; loss of argininosuccinate synthase activity. 3 PublicationsCorresponds to variant dbSNP:rs121908637EnsemblClinVar.1
Natural variantiVAR_078398157R → S in CTLN1. 1 Publication1
Natural variantiVAR_058343160L → P in CTLN1. 2 PublicationsCorresponds to variant dbSNP:rs969835605Ensembl.1
Natural variantiVAR_078399163 – 412Missing in CTLN1. 1 PublicationAdd BLAST250
Natural variantiVAR_078400164A → P in CTLN1. 1 Publication1
Natural variantiVAR_015898179W → R in CTLN1; mild; decreased affinity for aspartate; decreased affinity for citrulline; decreased argininosuccinate synthase activity. 4 PublicationsCorresponds to variant dbSNP:rs121908646EnsemblClinVar.1
Natural variantiVAR_078401180S → I in CTLN1; increased thermal stability; loss of argininosuccinate synthase activity. 2 Publications1
Natural variantiVAR_000686180S → N in CTLN1; decreased thermal stability; decreased affinity for aspartate; decreased affinity for citrulline; decreased argininosuccinate synthase activity. 2 PublicationsCorresponds to variant dbSNP:rs121908638EnsemblClinVar.1
Natural variantiVAR_078402184N → K in CTLN1. 1 Publication1
Natural variantiVAR_058344190Y → D in CTLN1. 2 Publications1
Natural variantiVAR_015899191E → K in CTLN1. 1 PublicationCorresponds to variant dbSNP:rs777828000EnsemblClinVar.1
Natural variantiVAR_058345191E → Q in CTLN1; loss of argininosuccinate synthase activity. 2 Publications1
Natural variantiVAR_000687192A → V in CTLN1; decreased protein abundance. 2 Publications1
Natural variantiVAR_058346202A → E in CTLN1. 1 PublicationCorresponds to variant dbSNP:rs376371866EnsemblClinVar.1
Natural variantiVAR_058347206L → P in CTLN1. 2 Publications1
Natural variantiVAR_078403230G → R in CTLN1. 1 Publication1
Natural variantiVAR_078404237N → I in CTLN1. 1 Publication1
Natural variantiVAR_078405258A → P in CTLN1. 1 Publication1
Natural variantiVAR_078406258A → V in CTLN1. 1 PublicationCorresponds to variant dbSNP:rs753078725EnsemblClinVar.1
Natural variantiVAR_058348263V → M in CTLN1; mild clinical course; no effect on affinity for aspartate; no effect on affinity for citrulline; decreased argininosuccinate synthase activity. 2 PublicationsCorresponds to variant dbSNP:rs192838388EnsemblClinVar.1
Natural variantiVAR_058349265R → C in CTLN1; severe clinical course; loss of argininosuccinate synthase activity. 4 PublicationsCorresponds to variant dbSNP:rs148918985EnsemblClinVar.1
Natural variantiVAR_015900265R → H in CTLN1. 1 PublicationCorresponds to variant dbSNP:rs398123131EnsemblClinVar.1
Natural variantiVAR_015901269V → M in CTLN1. 2 PublicationsCorresponds to variant dbSNP:rs370595480EnsemblClinVar.1
Natural variantiVAR_016007270E → Q in CTLN1; loss of argininosuccinate synthase activity. 3 PublicationsCorresponds to variant dbSNP:rs775163147EnsemblClinVar.1
Natural variantiVAR_000688272R → C in CTLN1; increased thermal stability; decreased affinity for aspartate; decreased affinity for citrulline; decreased argininosuccinate synthase activity. 4 PublicationsCorresponds to variant dbSNP:rs762387914EnsemblClinVar.1
Natural variantiVAR_078407272R → H in CTLN1; increased thermal stability; decreased affinity for aspartate; decreased affinity for citrulline; decreased argininosuccinate synthase activity. 1 Publication1
Natural variantiVAR_078408272R → L in CTLN1; increased thermal stability; decreased affinity for aspartate; decreased affinity for citrulline; decreased argininosuccinate synthase activity. 1 PublicationCorresponds to variant dbSNP:rs768215008Ensembl.1
Natural variantiVAR_078409275 – 412Missing in CTLN1. 1 PublicationAdd BLAST138
Natural variantiVAR_058350277K → T in CTLN1. 2 Publications1
Natural variantiVAR_078410279 – 412Missing in CTLN1. 1 PublicationAdd BLAST134
Natural variantiVAR_016008279R → Q in CTLN1. 1 PublicationCorresponds to variant dbSNP:rs371265106EnsemblClinVar.1
Natural variantiVAR_000689280G → R in CTLN1; loss of argininosuccinate synthase activity. 2 Publications1
Natural variantiVAR_015902283E → K in CTLN1. 4 PublicationsCorresponds to variant dbSNP:rs765338121EnsemblClinVar.1
Natural variantiVAR_058351284T → I in CTLN1; mild clinical course. 2 PublicationsCorresponds to variant dbSNP:rs886039853EnsemblClinVar.1
Natural variantiVAR_078411290L → P in CTLN1. 1 Publication1
Natural variantiVAR_058352291Y → S in CTLN1. 2 Publications1
Natural variantiVAR_058353296D → G in CTLN1. 2 Publications1
Natural variantiVAR_078412299A → D in CTLN1. 1 PublicationCorresponds to variant dbSNP:rs768394647Ensembl.1
Natural variantiVAR_058354302M → V in CTLN1; no effect on affinity for aspartate; no effect on affinity for citrulline; decreased argininosuccinate synthase activity. 2 Publications1
Natural variantiVAR_000690304R → W in CTLN1; decreased protein abundance. 3 PublicationsCorresponds to variant dbSNP:rs121908642EnsemblClinVar.1
Natural variantiVAR_078413306V → G in CTLN1. 1 Publication1
Natural variantiVAR_058355307R → C in CTLN1. 1 PublicationCorresponds to variant dbSNP:rs183276875EnsemblClinVar.1
Natural variantiVAR_016009310K → Q in CTLN1. 1 PublicationCorresponds to variant dbSNP:rs121908648EnsemblClinVar.1
Natural variantiVAR_015903310K → R in CTLN1. 1 PublicationCorresponds to variant dbSNP:rs199751308EnsemblClinVar.1
Natural variantiVAR_078414311 – 412Missing in CTLN1. 1 PublicationAdd BLAST102
Natural variantiVAR_078415321V → M in CTLN1. 1 PublicationCorresponds to variant dbSNP:rs727503813EnsemblClinVar.1
Natural variantiVAR_000691324G → S in CTLN1; loss of argininosuccinate synthase activity. 6 PublicationsCorresponds to variant dbSNP:rs121908639EnsemblClinVar.1
Natural variantiVAR_058356324G → V in CTLN1. 2 Publications1
Natural variantiVAR_078416335R → H in CTLN1. 1 PublicationCorresponds to variant dbSNP:rs555388438EnsemblClinVar.1
Natural variantiVAR_078417337C → R in CTLN1. 1 Publication1
Natural variantiVAR_058357341S → F in CTLN1. 2 Publications1
Natural variantiVAR_078418344 – 412Missing in CTLN1. 1 PublicationAdd BLAST69
Natural variantiVAR_058358345V → G in CTLN1. 1 Publication1
Natural variantiVAR_058359347G → R in CTLN1; severe clinical course. 2 Publications1
Natural variantiVAR_078419356G → V in CTLN1. 1 Publication1
Natural variantiVAR_078420357 – 412Missing in CTLN1. 1 PublicationAdd BLAST56
Natural variantiVAR_058360359Y → D in CTLN1; mild clinical course. 2 Publications1
Natural variantiVAR_015904362G → V in CTLN1; mild; no effect on affinity for aspartate; no effect on affinity for citrulline; decreased argininosuccinate synthase activity. 4 PublicationsCorresponds to variant dbSNP:rs121908647EnsemblClinVar.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 dbSNP:rs771937610EnsemblClinVar.1
Natural variantiVAR_000693363R → W in CTLN1. 2 PublicationsCorresponds to variant dbSNP:rs121908640EnsemblClinVar.1
Natural variantiVAR_078421380 – 412Missing in CTLN1. 1 PublicationAdd BLAST33
Natural variantiVAR_016012389T → I in CTLN1. 1 PublicationCorresponds to variant dbSNP:rs1474017319Ensembl.1
Natural variantiVAR_078422389T → P in CTLN1. 1 Publication1
Natural variantiVAR_000694390G → R in CTLN1; loss of argininosuccinate synthase activity. 7 PublicationsCorresponds to variant dbSNP:rs121908641EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi165K → Q or R: Significant loss of acetylation but no decrease in enzyme activity; when associated with Q-176 or R-176. 1 Publication1
Mutagenesisi176K → Q or R: Significant loss of acetylation but no decrease in enzyme activity; when associated with Q-165 or R-165. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi445
GeneReviewsiASS1
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 residuei112N6-acetyllysineBy similarity1
Modified residuei113PhosphotyrosineCombined sources1
Modified residuei165N6-acetyllysine; by CLOCK1 Publication1
Modified residuei176N6-acetyllysine; by CLOCK1 Publication1
Modified residuei180PhosphoserineCombined sources1
Modified residuei219PhosphothreonineCombined sources1

Post-translational modificationi

Acetylated by CLOCK in a circadian manner which negatively regulates its enzyme activity. Deacetylated by histone deacetylases.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP00966
PaxDbiP00966
PeptideAtlasiP00966
PRIDEiP00966
ProteomicsDBi51293

PTM databases

iPTMnetiP00966
PhosphoSitePlusiP00966

Expressioni

Tissue specificityi

Expressed in adult liver.1 Publication

Developmental stagei

Expressed in fetal liver and kidney.1 Publication

Gene expression databases

BgeeiENSG00000130707 Expressed in 230 organ(s), highest expression level in nephron tubule
CleanExiHS_ASS1
ExpressionAtlasiP00966 baseline and differential
GenevisibleiP00966 HS

Organism-specific databases

HPAiHPA020896
HPA020934

Interactioni

Subunit structurei

Homotetramer (PubMed:18323623). Interacts with NMRAL1 (PubMed:17496144). Interacts with CLOCK; in a circadian manner (PubMed:28985504).3 Publications

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi106937, 91 interactors
DIPiDIP-34055N
IntActiP00966, 25 interactors
MINTiP00966
STRINGi9606.ENSP00000253004

Structurei

Secondary structure

1412
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP00966
SMRiP00966
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP00966

Family & Domainsi

Sequence similaritiesi

Belongs to the argininosuccinate synthase family. Type 1 subfamily.Curated

Phylogenomic databases

eggNOGiKOG1706 Eukaryota
COG0137 LUCA
GeneTreeiENSGT00390000004524
HOGENOMiHOG000230093
HOVERGENiHBG001717
InParanoidiP00966
KOiK01940
OMAiPAREWGM
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
InterProiView protein in InterPro
IPR001518 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
PANTHERiPTHR11587 PTHR11587, 1 hit
PfamiView protein in Pfam
PF00764 Arginosuc_synth, 1 hit
TIGRFAMsiTIGR00032 argG, 1 hit
PROSITEiView protein in PROSITE
PS00564 ARGININOSUCCIN_SYN_1, 1 hit
PS00565 ARGININOSUCCIN_SYN_2, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5T6L6Q5T6L6_HUMAN
Argininosuccinate synthase
ASS1
198Annotation score:
Q5T6L5Q5T6L5_HUMAN
Argininosuccinate synthase
ASS1
179Annotation score:

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 dbSNP:rs121908636EnsemblClinVar.1
Natural variantiVAR_00068218S → L in CTLN1. 1 PublicationCorresponds to variant dbSNP:rs121908643EnsemblClinVar.1
Natural variantiVAR_01589119C → R in CTLN1. 1 Publication1
Natural variantiVAR_07838727 – 412Missing in CTLN1. 1 PublicationAdd BLAST386
Natural variantiVAR_05833740Q → L in CTLN1. 1 Publication1
Natural variantiVAR_07838864V → I in CTLN1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs556297791EnsemblClinVar.1
Natural variantiVAR_01601369V → A in CTLN1. 1 PublicationCorresponds to variant dbSNP:rs771594651Ensembl.1
Natural variantiVAR_05833879S → P in CTLN1. 2 Publications1
Natural variantiVAR_00068386R → C in CTLN1. 1 PublicationCorresponds to variant dbSNP:rs121908644EnsemblClinVar.1
Natural variantiVAR_01589286R → H in CTLN1. 1 PublicationCorresponds to variant dbSNP:rs575001023EnsemblClinVar.1
Natural variantiVAR_07838991T → P in CTLN1; decreased affinity for aspartate; decreased affinity for citrulline; decreased argininosuccinate synthase activity. 2 PublicationsCorresponds to variant dbSNP:rs769018733Ensembl.1
Natural variantiVAR_01589395R → S in CTLN1; increased thermal stability; loss of argininosuccinate synthase activity. 2 Publications1
Natural variantiVAR_05833996P → H in CTLN1; decreased affinity for aspartate; decreased affinity for citrulline; decreased argininosuccinate synthase activity. 2 Publications1
Natural variantiVAR_07839096P → L in CTLN1; decreased thermal stability; decreased affinity for aspartate; decreased affinity for citrulline; loss of argininosuccinate synthase activity. 1 Publication1
Natural variantiVAR_01589496P → S in CTLN1; no effect on thermal stability; decreased argininosuccinate synthase activity. 2 Publications1
Natural variantiVAR_07839197 – 412Missing in CTLN1. 1 PublicationAdd BLAST316
Natural variantiVAR_078392100R → C in CTLN1. 1 PublicationCorresponds to variant dbSNP:rs370695114EnsemblClinVar.1
Natural variantiVAR_078393100R → H in CTLN1. 1 PublicationCorresponds to variant dbSNP:rs138279074EnsemblClinVar.1
Natural variantiVAR_016014108R → L in CTLN1. 2 PublicationsCorresponds to variant dbSNP:rs35269064EnsemblClinVar.1
Natural variantiVAR_078394111A → D in CTLN1. 1 Publication1
Natural variantiVAR_078395117G → C in CTLN1. 1 Publication1
Natural variantiVAR_015896117G → D in CTLN1. 2 Publications1
Natural variantiVAR_015895117G → S in CTLN1; decreased thermal stability; loss of argininosuccinate synthase activity. 2 PublicationsCorresponds to variant dbSNP:rs770944877EnsemblClinVar.1
Natural variantiVAR_000684118A → T in CTLN1; decreased thermal stability; decreased affinity for aspartate; decreased affinity for citrulline; decreased argininosuccinate synthase activity. 3 PublicationsCorresponds to variant dbSNP:rs775305020Ensembl.1
Natural variantiVAR_016015119T → I in CTLN1; decreased thermal stability; loss of argininosuccinate synthase activity. 2 Publications1
Natural variantiVAR_058340124D → N in CTLN1; loss of argininosuccinate synthase activity. 2 PublicationsCorresponds to variant dbSNP:rs936192871EnsemblClinVar.1
Natural variantiVAR_078396127R → L Increased thermal stability; loss of argininosuccinate synthase activity. 2 PublicationsCorresponds to variant dbSNP:rs201623252EnsemblClinVar.1
Natural variantiVAR_058341127R → Q in CTLN1; increased thermal stability; loss of argininosuccinate synthase activity. 3 PublicationsCorresponds to variant dbSNP:rs201623252EnsemblClinVar.1
Natural variantiVAR_058342127R → W in CTLN1; severe clinical course; loss of argininosuccinate synthase activity. 2 PublicationsCorresponds to variant dbSNP:rs771794639EnsemblClinVar.1
Natural variantiVAR_078397138 – 412Missing in CTLN1. 1 PublicationAdd BLAST275
Natural variantiVAR_072792141V → G in CTLN1. 1 PublicationCorresponds to variant dbSNP:rs1184442048Ensembl.1
Natural variantiVAR_015897157R → C in CTLN1; decreased thermal stability; loss of argininosuccinate synthase activity. 3 PublicationsCorresponds to variant dbSNP:rs770585183Ensembl.1
Natural variantiVAR_000685157R → H in CTLN1; loss of argininosuccinate synthase activity. 3 PublicationsCorresponds to variant dbSNP:rs121908637EnsemblClinVar.1
Natural variantiVAR_078398157R → S in CTLN1. 1 Publication1
Natural variantiVAR_058343160L → P in CTLN1. 2 PublicationsCorresponds to variant dbSNP:rs969835605Ensembl.1
Natural variantiVAR_078399163 – 412Missing in CTLN1. 1 PublicationAdd BLAST250
Natural variantiVAR_078400164A → P in CTLN1. 1 Publication1
Natural variantiVAR_015898179W → R in CTLN1; mild; decreased affinity for aspartate; decreased affinity for citrulline; decreased argininosuccinate synthase activity. 4 PublicationsCorresponds to variant dbSNP:rs121908646EnsemblClinVar.1
Natural variantiVAR_078401180S → I in CTLN1; increased thermal stability; loss of argininosuccinate synthase activity. 2 Publications1
Natural variantiVAR_000686180S → N in CTLN1; decreased thermal stability; decreased affinity for aspartate; decreased affinity for citrulline; decreased argininosuccinate synthase activity. 2 PublicationsCorresponds to variant dbSNP:rs121908638EnsemblClinVar.1
Natural variantiVAR_078402184N → K in CTLN1. 1 Publication1
Natural variantiVAR_058344190Y → D in CTLN1. 2 Publications1
Natural variantiVAR_015899191E → K in CTLN1. 1 PublicationCorresponds to variant dbSNP:rs777828000EnsemblClinVar.1
Natural variantiVAR_058345191E → Q in CTLN1; loss of argininosuccinate synthase activity. 2 Publications1
Natural variantiVAR_000687192A → V in CTLN1; decreased protein abundance. 2 Publications1
Natural variantiVAR_058346202A → E in CTLN1. 1 PublicationCorresponds to variant dbSNP:rs376371866EnsemblClinVar.1
Natural variantiVAR_058347206L → P in CTLN1. 2 Publications1
Natural variantiVAR_078403230G → R in CTLN1. 1 Publication1
Natural variantiVAR_078404237N → I in CTLN1. 1 Publication1
Natural variantiVAR_078405258A → P in CTLN1. 1 Publication1
Natural variantiVAR_078406258A → V in CTLN1. 1 PublicationCorresponds to variant dbSNP:rs753078725EnsemblClinVar.1
Natural variantiVAR_058348263V → M in CTLN1; mild clinical course; no effect on affinity for aspartate; no effect on affinity for citrulline; decreased argininosuccinate synthase activity. 2 PublicationsCorresponds to variant dbSNP:rs192838388EnsemblClinVar.1
Natural variantiVAR_058349265R → C in CTLN1; severe clinical course; loss of argininosuccinate synthase activity. 4 PublicationsCorresponds to variant dbSNP:rs148918985EnsemblClinVar.1
Natural variantiVAR_015900265R → H in CTLN1. 1 PublicationCorresponds to variant dbSNP:rs398123131EnsemblClinVar.1
Natural variantiVAR_015901