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P00966

- ASSY_HUMAN

UniProt

P00966 - ASSY_HUMAN

Protein

Argininosuccinate synthase

Gene

ASS1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 169 (01 Oct 2014)
      Sequence version 2 (03 Apr 2002)
      Previous versions | rss
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    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

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei36 – 361ATP; via amide nitrogen and carbonyl oxygenBy similarity
    Binding sitei87 – 871Citrulline1 Publication
    Binding sitei92 – 921Citrulline1 Publication
    Binding sitei119 – 1191Aspartate1 Publication
    Binding sitei123 – 1231Aspartate1 Publication
    Binding sitei123 – 1231Citrulline1 Publication
    Binding sitei124 – 1241Aspartate1 Publication
    Binding sitei127 – 1271Citrulline1 Publication
    Binding sitei180 – 1801Citrulline1 Publication
    Binding sitei189 – 1891Citrulline1 Publication
    Binding sitei270 – 2701Citrulline1 Publication
    Binding sitei282 – 2821Citrulline1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi10 – 189ATPBy similarity
    Nucleotide bindingi115 – 1239ATPBy similarity

    GO - Molecular functioni

    1. amino acid binding Source: BHF-UCL
    2. argininosuccinate synthase activity Source: BHF-UCL
    3. ATP binding Source: UniProtKB-KW
    4. poly(A) RNA binding Source: UniProtKB
    5. protein binding Source: IntAct

    GO - Biological processi

    1. arginine biosynthetic process Source: UniProtKB-UniPathway
    2. argininosuccinate metabolic process Source: BHF-UCL
    3. aspartate metabolic process Source: BHF-UCL
    4. cellular nitrogen compound metabolic process Source: Reactome
    5. cellular response to laminar fluid shear stress Source: BHF-UCL
    6. citrulline metabolic process Source: BHF-UCL
    7. negative regulation of leukocyte cell-cell adhesion Source: BHF-UCL
    8. positive regulation of nitric oxide biosynthetic process Source: BHF-UCL
    9. small molecule metabolic process Source: Reactome
    10. urea cycle Source: BHF-UCL

    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.
    ReactomeiREACT_847. 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
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:758. ASS1.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: ProtInc
    2. cytosol Source: Reactome
    3. extracellular vesicular exosome Source: UniProt

    Pathology & Biotechi

    Involvement in diseasei

    Citrullinemia 1 (CTLN1) [MIM:215700]: The 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.8 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti14 – 141G → S in CTLN1. 2 Publications
    VAR_000681
    Natural varianti18 – 181S → L in CTLN1. 1 Publication
    VAR_000682
    Natural varianti19 – 191C → R in CTLN1. 1 Publication
    VAR_015891
    Natural varianti40 – 401Q → L in CTLN1. 1 Publication
    VAR_058337
    Natural varianti69 – 691V → A in CTLN1. 1 Publication
    VAR_016013
    Natural varianti79 – 791S → P in CTLN1.
    VAR_058338
    Natural varianti86 – 861R → C in CTLN1. 1 Publication
    VAR_000683
    Natural varianti86 – 861R → H in CTLN1. 1 Publication
    VAR_015892
    Natural varianti95 – 951R → S in CTLN1. 1 Publication
    VAR_015893
    Natural varianti96 – 961P → H in CTLN1.
    VAR_058339
    Natural varianti96 – 961P → S in CTLN1. 1 Publication
    VAR_015894
    Natural varianti108 – 1081R → L in CTLN1. 2 Publications
    Corresponds to variant rs35269064 [ dbSNP | Ensembl ].
    VAR_016014
    Natural varianti117 – 1171G → D in CTLN1. 2 Publications
    VAR_015896
    Natural varianti117 – 1171G → S in CTLN1. 1 Publication
    VAR_015895
    Natural varianti118 – 1181A → T in CTLN1. 1 Publication
    VAR_000684
    Natural varianti119 – 1191T → I in CTLN1. 1 Publication
    VAR_016015
    Natural varianti124 – 1241D → N in CTLN1. 1 Publication
    VAR_058340
    Natural varianti127 – 1271R → Q in CTLN1. 1 Publication
    VAR_058341
    Natural varianti127 – 1271R → W in CTLN1; severe clinical course.
    VAR_058342
    Natural varianti157 – 1571R → C in CTLN1. 1 Publication
    VAR_015897
    Natural varianti157 – 1571R → H in CTLN1. 2 Publications
    VAR_000685
    Natural varianti160 – 1601L → P in CTLN1.
    VAR_058343
    Natural varianti179 – 1791W → R in CTLN1; mild. 3 Publications
    Corresponds to variant rs121908646 [ dbSNP | Ensembl ].
    VAR_015898
    Natural varianti180 – 1801S → N in CTLN1. 1 Publication
    VAR_000686
    Natural varianti190 – 1901Y → D in CTLN1. 1 Publication
    VAR_058344
    Natural varianti191 – 1911E → K in CTLN1. 1 Publication
    VAR_015899
    Natural varianti191 – 1911E → Q in CTLN1.
    VAR_058345
    Natural varianti192 – 1921A → V in CTLN1. 1 Publication
    VAR_000687
    Natural varianti202 – 2021A → E in CTLN1.
    VAR_058346
    Natural varianti206 – 2061L → P in CTLN1.
    VAR_058347
    Natural varianti263 – 2631V → M in CTLN1; mild clinical course. 1 Publication
    Corresponds to variant rs192838388 [ dbSNP | Ensembl ].
    VAR_058348
    Natural varianti265 – 2651R → C in CTLN1; severe clinical course.
    VAR_058349
    Natural varianti265 – 2651R → H in CTLN1. 1 Publication
    VAR_015900
    Natural varianti269 – 2691V → M in CTLN1. 2 Publications
    VAR_015901
    Natural varianti270 – 2701E → Q in CTLN1. 2 Publications
    VAR_016007
    Natural varianti272 – 2721R → C in CTLN1. 2 Publications
    VAR_000688
    Natural varianti277 – 2771K → T in CTLN1.
    VAR_058350
    Natural varianti279 – 2791R → Q in CTLN1. 1 Publication
    VAR_016008
    Natural varianti280 – 2801G → R in CTLN1. 1 Publication
    VAR_000689
    Natural varianti283 – 2831E → K in CTLN1. 2 Publications
    VAR_015902
    Natural varianti284 – 2841T → I in CTLN1; mild clinical course.
    VAR_058351
    Natural varianti291 – 2911Y → S in CTLN1.
    VAR_058352
    Natural varianti296 – 2961D → G in CTLN1.
    VAR_058353
    Natural varianti302 – 3021M → V in CTLN1.
    VAR_058354
    Natural varianti304 – 3041R → W in CTLN1. 3 Publications
    VAR_000690
    Natural varianti307 – 3071R → C in CTLN1.
    Corresponds to variant rs183276875 [ dbSNP | Ensembl ].
    VAR_058355
    Natural varianti310 – 3101K → Q in CTLN1. 1 Publication
    VAR_016009
    Natural varianti310 – 3101K → R in CTLN1.
    VAR_015903
    Natural varianti324 – 3241G → S in CTLN1. 4 Publications
    VAR_000691
    Natural varianti324 – 3241G → V in CTLN1.
    VAR_058356
    Natural varianti341 – 3411S → F in CTLN1.
    VAR_058357
    Natural varianti345 – 3451V → G in CTLN1.
    VAR_058358
    Natural varianti347 – 3471G → R in CTLN1; severe clinical course.
    VAR_058359
    Natural varianti359 – 3591Y → D in CTLN1; mild clinical course.
    VAR_058360
    Natural varianti362 – 3621G → V in CTLN1; mild. 3 Publications
    VAR_015904
    Natural varianti363 – 3631R → G in CTLN1. 1 Publication
    VAR_016010
    Natural varianti363 – 3631R → L in CTLN1. 1 Publication
    VAR_000692
    Natural varianti363 – 3631R → Q in CTLN1. 1 Publication
    VAR_016011
    Natural varianti363 – 3631R → W in CTLN1. 2 Publications
    VAR_000693
    Natural varianti389 – 3891T → I in CTLN1. 1 Publication
    VAR_016012
    Natural varianti390 – 3901G → R in CTLN1. 5 Publications
    VAR_000694

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

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

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 412412Argininosuccinate synthasePRO_0000148554Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei180 – 1801Phosphoserine1 Publication
    Modified residuei219 – 2191Phosphothreonine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiP00966.
    PaxDbiP00966.
    PRIDEiP00966.

    PTM databases

    PhosphoSiteiP00966.

    Expressioni

    Gene expression databases

    ArrayExpressiP00966.
    BgeeiP00966.
    CleanExiHS_ASS1.
    GenevestigatoriP00966.

    Organism-specific databases

    HPAiHPA020896.
    HPA020934.

    Interactioni

    Subunit structurei

    Homotetramer. Interacts with NMRAL1.2 Publications

    Binary interactionsi

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

    Protein-protein interaction databases

    BioGridi106937. 39 interactions.
    DIPiDIP-34055N.
    IntActiP00966. 13 interactions.
    MINTiMINT-5000467.
    STRINGi9606.ENSP00000253004.

    Structurei

    Secondary structure

    1
    412
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi5 – 106
    Helixi15 – 2612
    Beta strandi29 – 3911
    Helixi44 – 5411
    Beta strandi57 – 637
    Helixi65 – 717
    Helixi73 – 786
    Turni84 – 863
    Turni90 – 934
    Helixi94 – 10916
    Beta strandi112 – 1154
    Helixi124 – 13512
    Beta strandi140 – 1423
    Helixi144 – 1463
    Helixi148 – 1514
    Helixi158 – 1669
    Beta strandi181 – 1833
    Beta strandi188 – 1903
    Helixi193 – 1964
    Helixi204 – 2063
    Turni213 – 2153
    Beta strandi221 – 2288
    Beta strandi231 – 2377
    Turni238 – 2403
    Helixi247 – 26115
    Beta strandi265 – 2717
    Beta strandi277 – 2837
    Helixi285 – 30117
    Helixi304 – 32320
    Beta strandi326 – 3283
    Helixi329 – 34113
    Turni342 – 3443
    Beta strandi347 – 3548
    Beta strandi357 – 3648
    Helixi372 – 3754
    Helixi385 – 40420

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2NZ2X-ray2.40A1-412[»]
    ProteinModelPortaliP00966.
    SMRiP00966. Positions 4-407.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP00966.

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG0137.
    HOGENOMiHOG000230093.
    HOVERGENiHBG001717.
    InParanoidiP00966.
    KOiK01940.
    OMAiQGDYEPA.
    OrthoDBiEOG7PVWPB.
    PhylomeDBiP00966.
    TreeFamiTF300736.

    Family and domain databases

    Gene3Di3.40.50.620. 1 hit.
    3.90.1260.10. 1 hit.
    HAMAPiMF_00005. Arg_succ_synth_type1.
    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

    MSSKGSVVLA YSGGLDTSCI LVWLKEQGYD VIAYLANIGQ KEDFEEARKK    50
    ALKLGAKKVF IEDVSREFVE EFIWPAIQSS ALYEDRYLLG TSLARPCIAR 100
    KQVEIAQREG AKYVSHGATG KGNDQVRFEL SCYSLAPQIK VIAPWRMPEF 150
    YNRFKGRNDL MEYAKQHGIP IPVTPKNPWS MDENLMHISY EAGILENPKN 200
    QAPPGLYTKT QDPAKAPNTP DILEIEFKKG VPVKVTNVKD GTTHQTSLEL 250
    FMYLNEVAGK HGVGRIDIVE NRFIGMKSRG IYETPAGTIL YHAHLDIEAF 300
    TMDREVRKIK QGLGLKFAEL VYTGFWHSPE CEFVRHCIAK SQERVEGKVQ 350
    VSVLKGQVYI LGRESPLSLY NEELVSMNVQ GDYEPTDATG FININSLRLK 400
    EYHRLQSKVT AK 412
    Length:412
    Mass (Da):46,530
    Last modified:April 3, 2002 - v2
    Checksum:i47CAD2373AE47E47
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti325 – 3273FWH → LRP in CAA25771. (PubMed:6194510)Curated
    Sequence conflicti325 – 3273FWH → LRP in AAA51783. (PubMed:6321498)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti14 – 141G → S in CTLN1. 2 Publications
    VAR_000681
    Natural varianti18 – 181S → L in CTLN1. 1 Publication
    VAR_000682
    Natural varianti19 – 191C → R in CTLN1. 1 Publication
    VAR_015891
    Natural varianti40 – 401Q → L in CTLN1. 1 Publication
    VAR_058337
    Natural varianti65 – 651S → I.
    Corresponds to variant rs2229556 [ dbSNP | Ensembl ].
    VAR_050427
    Natural varianti69 – 691V → A in CTLN1. 1 Publication
    VAR_016013
    Natural varianti79 – 791S → P in CTLN1.
    VAR_058338
    Natural varianti86 – 861R → C in CTLN1. 1 Publication
    VAR_000683
    Natural varianti86 – 861R → H in CTLN1. 1 Publication
    VAR_015892
    Natural varianti95 – 951R → S in CTLN1. 1 Publication
    VAR_015893
    Natural varianti96 – 961P → H in CTLN1.
    VAR_058339
    Natural varianti96 – 961P → S in CTLN1. 1 Publication
    VAR_015894
    Natural varianti108 – 1081R → L in CTLN1. 2 Publications
    Corresponds to variant rs35269064 [ dbSNP | Ensembl ].
    VAR_016014
    Natural varianti117 – 1171G → D in CTLN1. 2 Publications
    VAR_015896
    Natural varianti117 – 1171G → S in CTLN1. 1 Publication
    VAR_015895
    Natural varianti118 – 1181A → T in CTLN1. 1 Publication
    VAR_000684
    Natural varianti119 – 1191T → I in CTLN1. 1 Publication
    VAR_016015
    Natural varianti124 – 1241D → N in CTLN1. 1 Publication
    VAR_058340
    Natural varianti127 – 1271R → Q in CTLN1. 1 Publication
    VAR_058341
    Natural varianti127 – 1271R → W in CTLN1; severe clinical course.
    VAR_058342
    Natural varianti157 – 1571R → C in CTLN1. 1 Publication
    VAR_015897
    Natural varianti157 – 1571R → H in CTLN1. 2 Publications
    VAR_000685
    Natural varianti160 – 1601L → P in CTLN1.
    VAR_058343
    Natural varianti179 – 1791W → R in CTLN1; mild. 3 Publications
    Corresponds to variant rs121908646 [ dbSNP | Ensembl ].
    VAR_015898
    Natural varianti180 – 1801S → N in CTLN1. 1 Publication
    VAR_000686
    Natural varianti190 – 1901Y → D in CTLN1. 1 Publication
    VAR_058344
    Natural varianti191 – 1911E → K in CTLN1. 1 Publication
    VAR_015899
    Natural varianti191 – 1911E → Q in CTLN1.
    VAR_058345
    Natural varianti192 – 1921A → V in CTLN1. 1 Publication
    VAR_000687
    Natural varianti202 – 2021A → E in CTLN1.
    VAR_058346
    Natural varianti206 – 2061L → P in CTLN1.
    VAR_058347
    Natural varianti263 – 2631V → M in CTLN1; mild clinical course. 1 Publication
    Corresponds to variant rs192838388 [ dbSNP | Ensembl ].
    VAR_058348
    Natural varianti265 – 2651R → C in CTLN1; severe clinical course.
    VAR_058349
    Natural varianti265 – 2651R → H in CTLN1. 1 Publication
    VAR_015900
    Natural varianti269 – 2691V → M in CTLN1. 2 Publications
    VAR_015901
    Natural varianti270 – 2701E → Q in CTLN1. 2 Publications
    VAR_016007
    Natural varianti272 – 2721R → C in CTLN1. 2 Publications
    VAR_000688
    Natural varianti277 – 2771K → T in CTLN1.
    VAR_058350
    Natural varianti279 – 2791R → Q in CTLN1. 1 Publication
    VAR_016008
    Natural varianti280 – 2801G → R in CTLN1. 1 Publication
    VAR_000689
    Natural varianti283 – 2831E → K in CTLN1. 2 Publications
    VAR_015902
    Natural varianti284 – 2841T → I in CTLN1; mild clinical course.
    VAR_058351
    Natural varianti291 – 2911Y → S in CTLN1.
    VAR_058352
    Natural varianti296 – 2961D → G in CTLN1.
    VAR_058353
    Natural varianti302 – 3021M → V in CTLN1.
    VAR_058354
    Natural varianti304 – 3041R → W in CTLN1. 3 Publications
    VAR_000690
    Natural varianti307 – 3071R → C in CTLN1.
    Corresponds to variant rs183276875 [ dbSNP | Ensembl ].
    VAR_058355
    Natural varianti310 – 3101K → Q in CTLN1. 1 Publication
    VAR_016009
    Natural varianti310 – 3101K → R in CTLN1.
    VAR_015903
    Natural varianti324 – 3241G → S in CTLN1. 4 Publications
    VAR_000691
    Natural varianti324 – 3241G → V in CTLN1.
    VAR_058356
    Natural varianti341 – 3411S → F in CTLN1.
    VAR_058357
    Natural varianti345 – 3451V → G in CTLN1.
    VAR_058358
    Natural varianti347 – 3471G → R in CTLN1; severe clinical course.
    VAR_058359
    Natural varianti359 – 3591Y → D in CTLN1; mild clinical course.
    VAR_058360
    Natural varianti362 – 3621G → V in CTLN1; mild. 3 Publications
    VAR_015904
    Natural varianti363 – 3631R → G in CTLN1. 1 Publication
    VAR_016010
    Natural varianti363 – 3631R → L in CTLN1. 1 Publication
    VAR_000692
    Natural varianti363 – 3631R → Q in CTLN1. 1 Publication
    VAR_016011
    Natural varianti363 – 3631R → W in CTLN1. 2 Publications
    VAR_000693
    Natural varianti389 – 3891T → I in CTLN1. 1 Publication
    VAR_016012
    Natural varianti390 – 3901G → R in CTLN1. 5 Publications
    VAR_000694

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_005272200.1.
    UniGeneiHs.160786.

    Genome annotation databases

    EnsembliENST00000352480; ENSP00000253004; ENSG00000130707.
    ENST00000372393; ENSP00000361469; ENSG00000130707.
    ENST00000372394; ENSP00000361471; ENSG00000130707.
    GeneIDi445.
    KEGGihsa:445.
    UCSCiuc004bzm.3. human.

    Polymorphism databases

    DMDMi20141195.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS6933.1.
    PIRi A01195. AJHURS.
    RefSeqi NP_000041.2. NM_000050.4.
    NP_446464.1. NM_054012.3.
    XP_005272257.1. XM_005272200.1.
    UniGenei Hs.160786.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2NZ2 X-ray 2.40 A 1-412 [» ]
    ProteinModelPortali P00966.
    SMRi P00966. Positions 4-407.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106937. 39 interactions.
    DIPi DIP-34055N.
    IntActi P00966. 13 interactions.
    MINTi MINT-5000467.
    STRINGi 9606.ENSP00000253004.

    Chemistry

    DrugBanki DB00171. Adenosine triphosphate.
    DB00125. L-Arginine.
    DB00128. L-Aspartic Acid.
    DB00155. L-Citrulline.

    PTM databases

    PhosphoSitei P00966.

    Polymorphism databases

    DMDMi 20141195.

    Proteomic databases

    MaxQBi P00966.
    PaxDbi P00966.
    PRIDEi P00966.

    Protocols and materials databases

    DNASUi 445.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000352480 ; ENSP00000253004 ; ENSG00000130707 .
    ENST00000372393 ; ENSP00000361469 ; ENSG00000130707 .
    ENST00000372394 ; ENSP00000361471 ; ENSG00000130707 .
    GeneIDi 445.
    KEGGi hsa:445.
    UCSCi uc004bzm.3. human.

    Organism-specific databases

    CTDi 445.
    GeneCardsi GC09P133320.
    GeneReviewsi ASS1.
    H-InvDB HIX0025782.
    HGNCi HGNC:758. ASS1.
    HPAi HPA020896.
    HPA020934.
    MIMi 215700. phenotype.
    603470. gene.
    neXtProti NX_P00966.
    Orphaneti 247546. Acute neonatal citrullinemia type I.
    247573. Adult-onset citrullinemia type I.
    PharmGKBi PA162376926.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0137.
    HOGENOMi HOG000230093.
    HOVERGENi HBG001717.
    InParanoidi P00966.
    KOi K01940.
    OMAi QGDYEPA.
    OrthoDBi EOG7PVWPB.
    PhylomeDBi P00966.
    TreeFami TF300736.

    Enzyme and pathway databases

    UniPathwayi UPA00068 ; UER00113 .
    UPA00158 ; UER00272 .
    BioCyci MetaCyc:HS05425-MONOMER.
    Reactomei REACT_847. Urea cycle.
    SABIO-RK P00966.

    Miscellaneous databases

    EvolutionaryTracei P00966.
    GeneWikii Argininosuccinate_synthetase_1.
    GenomeRNAii 445.
    NextBioi 1871.
    PROi P00966.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P00966.
    Bgeei P00966.
    CleanExi HS_ASS1.
    Genevestigatori P00966.

    Family and domain databases

    Gene3Di 3.40.50.620. 1 hit.
    3.90.1260.10. 1 hit.
    HAMAPi MF_00005. Arg_succ_synth_type1.
    InterProi 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.
    [Graphical view ]
    Pfami PF00764. Arginosuc_synth. 1 hit.
    [Graphical view ]
    TIGRFAMsi TIGR00032. argG. 1 hit.
    PROSITEi PS00564. ARGININOSUCCIN_SYN_1. 1 hit.
    PS00565. ARGININOSUCCIN_SYN_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Sequence for human argininosuccinate synthetase cDNA."
      Bock H.-G.O., Su T.-S., O'Brien W.E., Beaudet A.L.
      Nucleic Acids Res. 11:6505-6512(1983) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "Molecular structures of human argininosuccinate synthetase pseudogenes. Evolutionary and mechanistic implications."
      Freytag S.O., Bock H.-G.O., Beaudet A.L., O'Brien W.E.
      J. Biol. Chem. 259:3160-3166(1984) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia."
      Haeberle J., Pauli S., Linnebank M., Kleijer W.J., Bakker H.D., Wanders R.J.A., Harms E., Koch H.G.
      Hum. Genet. 110:327-333(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS CTLN1 LEU-108; ARG-179; VAL-362 AND ARG-390.
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Small intestine.
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Kidney and Muscle.
    6. "Structure of the 5' end region of the human argininosuccinate synthetase gene."
      Jinno Y., Nomiyama H., Matuo S., Shimada K., Matsuda I., Saheki T.
      J. Inherit. Metab. Dis. 8:157-159(1985) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-24.
    7. "Identification of essential arginine residue(s) for Mg-ATP binding of human argininosuccinate synthetase."
      Isashiki Y., Noda T., Kobayashi K., Sase M., Saheki T., Titani K.
      Protein Seq. Data Anal. 2:283-287(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 148-161.
    8. "A two-dimensional gel database of human colon carcinoma proteins."
      Ji H., Reid G.E., Moritz R.L., Eddes J.S., Burgess A.W., Simpson R.J.
      Electrophoresis 18:605-613(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 200-209.
      Tissue: Colon carcinoma.
    9. "Restructuring of the dinucleotide-binding fold in an NADP(H) sensor protein."
      Zheng X., Dai X., Zhao Y., Chen Q., Lu F., Yao D., Yu Q., Liu X., Zhang C., Gu X., Luo M.
      Proc. Natl. Acad. Sci. U.S.A. 104:8809-8814(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH NMRAL1.
    10. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-180 AND THR-219, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    12. Cited for: X-RAY CRYSTALLOGRAPHY (2.4 ANGSTROMS) IN COMPLEX WITH CITRULLINE AND ASPARTATE, SUBUNIT.
    13. "Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene."
      Engel K., Hoehne W., Haeberle J.
      Hum. Mutat. 30:300-307(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON VARIANTS.
    14. "Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia."
      Kobayashi K., Jackson M.J., Tick D.B., O'Brien W.E., Beaudet A.L.
      J. Biol. Chem. 265:11361-11367(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CTLN1 SER-14; HIS-157; ASN-180; TRP-304; SER-324; TRP-363 AND ARG-390.
    15. "Additional mutations in argininosuccinate synthetase causing citrullinemia."
      Kobayashi K., Rosenbloom C., Beaudet A.L., O'Brien W.E.
      Mol. Biol. Med. 8:95-100(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CTLN1 LEU-18 AND CYS-86.
    16. "Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia."
      Kobayashi K., Shaheen N., Terazono H., Saheki T.
      Am. J. Hum. Genet. 55:1103-1112(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CTLN1 THR-118; VAL-192; CYS-272; ARG-280; TRP-304 AND LEU-363.
    17. "Characterization of human wild-type and mutant argininosuccinate synthetase proteins expressed in bacterial cells."
      Shaheen N., Kobayashi K., Terazono H., Fukushige T., Horiuchi M., Saheki T.
      Enzyme Protein 48:251-264(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF SOME CTLN1 VARIANTS.
    18. Cited for: VARIANTS CTLN1 ALA-69; LEU-108; ASP-117; ILE-119; GLN-270 AND ARG-390.
    19. Cited for: VARIANTS CTLN1 ARG-19; HIS-86; SER-95; SER-96; ASP-117; SER-117; CYS-157; ARG-179; LYS-191; HIS-265; MET-269; CYS-272; LYS-283; TRP-304; GLN-310; SER-324; VAL-362; GLN-363; TRP-363; ILE-389 AND ARG-390.
    20. "Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1)."
      Haeberle J., Pauli S., Schmidt E., Schulze-Eilfing B., Berning C., Koch H.G.
      Mol. Genet. Metab. 80:302-306(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CTLN1 SER-14; LEU-40; GLN-127; ARG-179; ASP-190; MET-263; MET-269; SER-324 AND VAL-362.
    21. "Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia."
      Kleijer W.J., Garritsen V.H., van der Sterre M.L., Berning C., Haeberle J., Huijmans J.G.M.
      Prenat. Diagn. 26:242-247(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CTLN1 ASN-124; HIS-157; GLN-270; GLN-279; LYS-283; SER-324; GLY-363 AND ARG-390.

    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: October 1, 2014
    This is version 169 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

    External Data

    Dasty 3