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Protein

Adenylosuccinate synthetase isozyme 1

Gene

ADSSL1

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

Functioni

Component of the purine nucleotide cycle (PNC), which interconverts IMP and AMP to regulate the nucleotide levels in various tissues, and which contributes to glycolysis and ammoniagenesis. Catalyzes the first committed step in the biosynthesis of AMP from IMP (By similarity).By similarity

Catalytic activityi

GTP + IMP + L-aspartate = GDP + phosphate + N(6)-(1,2-dicarboxyethyl)-AMP.UniRule annotation

Cofactori

Mg2+UniRule annotationNote: Binds 1 Mg2+ ion per subunit.UniRule annotation

Pathwayi: AMP biosynthesis via de novo pathway

This protein is involved in step 1 of the subpathway that synthesizes AMP from IMP.UniRule annotation
Proteins known to be involved in the 2 steps of the subpathway in this organism are:
  1. Adenylosuccinate synthetase isozyme 1 (ADSSL1), Adenylosuccinate synthetase isozyme 2 (ADSS), Adenylosuccinate synthetase isozyme 2 (ADSS), Adenylosuccinate synthetase isozyme 2 (ADSS)
  2. Adenylosuccinate lyase (ADSL), Adenylosuccinate lyase (ADSL), Adenylosuccinate lyase (ADSL), Adenylosuccinate lyase, Adenylosuccinate lyase (ADSL), Adenylosuccinate lyase, Adenylosuccinate lyase, Adenylosuccinate lyase (ADSL)
This subpathway is part of the pathway AMP biosynthesis via de novo pathway, which is itself part of Purine metabolism.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes AMP from IMP, the pathway AMP biosynthesis via de novo pathway and in Purine metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei43Proton acceptorUniRule annotation1
Metal bindingi43MagnesiumUniRule annotation1
Binding sitei43SubstrateUniRule annotation1
Metal bindingi70Magnesium; via carbonyl oxygenUniRule annotation1
Active sitei71Proton donorUniRule annotation1
Binding sitei163IMPUniRule annotation1
Binding sitei177IMP; shared with dimeric partnerUniRule annotation1
Binding sitei256IMPUniRule annotation1
Binding sitei271IMPUniRule annotation1
Binding sitei335IMPUniRule annotation1
Binding sitei337GTPUniRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi42 – 48GTPUniRule annotation7
Nucleotide bindingi70 – 72GTPUniRule annotation3
Nucleotide bindingi363 – 365GTPUniRule annotation3
Nucleotide bindingi445 – 448GTPUniRule annotation4

GO - Molecular functioni

  • adenylosuccinate synthase activity Source: UniProtKB
  • GTPase activity Source: Ensembl
  • GTP binding Source: UniProtKB
  • magnesium ion binding Source: UniProtKB-HAMAP
  • phosphate ion binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Ligase

Keywords - Biological processi

Purine biosynthesis

Keywords - Ligandi

GTP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:HS11919-MONOMER.
BRENDAi6.3.4.4. 2681.
ReactomeiR-HSA-73817. Purine ribonucleoside monophosphate biosynthesis.
UniPathwayiUPA00075; UER00335.

Names & Taxonomyi

Protein namesi
Recommended name:
Adenylosuccinate synthetase isozyme 1UniRule annotation (EC:6.3.4.4UniRule annotation)
Short name:
AMPSase 1UniRule annotation
Short name:
AdSS 1UniRule annotation
Alternative name(s):
Adenylosuccinate synthetase, basic isozymeUniRule annotation
Adenylosuccinate synthetase, muscle isozymeUniRule annotation
Short name:
M-type adenylosuccinate synthetaseUniRule annotation
IMP--aspartate ligase 1UniRule annotation
Gene namesi
Name:ADSSL1UniRule annotation
Synonyms:ADSS1UniRule annotation
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:20093. ADSSL1.

Subcellular locationi

  • Cytoplasm UniRule annotation1 Publication

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • cytosol Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi122622.
OpenTargetsiENSG00000185100.
PharmGKBiPA134974111.

Chemistry databases

DrugBankiDB00128. L-Aspartic Acid.

Polymorphism and mutation databases

BioMutaiADSSL1.
DMDMi37537958.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000951321 – 457Adenylosuccinate synthetase isozyme 1Add BLAST457

Proteomic databases

EPDiQ8N142.
MaxQBiQ8N142.
PaxDbiQ8N142.
PeptideAtlasiQ8N142.
PRIDEiQ8N142.

PTM databases

iPTMnetiQ8N142.
PhosphoSitePlusiQ8N142.

Expressioni

Tissue specificityi

Predominantly expressed in skeletal muscle and heart, as well as in several hematopoietic cell lines and solid tumors.1 Publication

Gene expression databases

BgeeiENSG00000185100.
CleanExiHS_ADSSL1.
ExpressionAtlasiQ8N142. baseline and differential.
GenevisibleiQ8N142. HS.

Organism-specific databases

HPAiCAB018777.

Interactioni

Subunit structurei

Homodimer.UniRule annotation

Protein-protein interaction databases

BioGridi125783. 3 interactors.
IntActiQ8N142. 3 interactors.
MINTiMINT-3319213.
STRINGi9606.ENSP00000333019.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2GJOmodel-A27-457[»]
ProteinModelPortaliQ8N142.
SMRiQ8N142.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni43 – 46IMP bindingUniRule annotation4
Regioni68 – 71IMP bindingUniRule annotation4
Regioni331 – 337Substrate bindingUniRule annotation7

Sequence similaritiesi

Belongs to the adenylosuccinate synthetase family.UniRule annotation

Phylogenomic databases

eggNOGiKOG1355. Eukaryota.
COG0104. LUCA.
GeneTreeiENSGT00390000015553.
HOGENOMiHOG000260959.
HOVERGENiHBG053768.
InParanoidiQ8N142.
KOiK01939.
OMAiSNGVRCD.
OrthoDBiEOG091G1BIK.
PhylomeDBiQ8N142.
TreeFamiTF300486.

Family and domain databases

CDDicd03108. AdSS. 1 hit.
HAMAPiMF_00011. Adenylosucc_synth. 1 hit.
MF_03126. Adenylosucc_synth_vert_basic. 1 hit.
InterProiIPR018220. Adenylosuccin_syn_GTP-bd.
IPR033128. Adenylosuccin_syn_Lys_AS.
IPR001114. Adenylosuccinate_synthetase.
IPR027509. AdSS_1_vert.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR11846. PTHR11846. 1 hit.
PfamiPF00709. Adenylsucc_synt. 1 hit.
[Graphical view]
SMARTiSM00788. Adenylsucc_synt. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR00184. purA. 1 hit.
PROSITEiPS01266. ADENYLOSUCCIN_SYN_1. 1 hit.
PS00513. ADENYLOSUCCIN_SYN_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N142-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSGTRASNDR PPGAGGVKRG RLQQEAAATG SRVTVVLGAQ WGDEGKGKVV
60 70 80 90 100
DLLATDADII SRCQGGNNAG HTVVVDGKEY DFHLLPSGII NTKAVSFIGN
110 120 130 140 150
GVVIHLPGLF EEAEKNEKKG LKDWEKRLII SDRAHLVFDF HQAVDGLQEV
160 170 180 190 200
QRQAQEGKNI GTTKKGIGPT YSSKAARTGL RICDLLSDFD EFSSRFKNLA
210 220 230 240 250
HQHQSMFPTL EIDIEGQLKR LKGFAERIRP MVRDGVYFMY EALHGPPKKI
260 270 280 290 300
LVEGANAALL DIDFGTYPFV TSSNCTVGGV CTGLGIPPQN IGDVYGVVKA
310 320 330 340 350
YTTRVGIGAF PTEQINEIGG LLQTRGHEWG VTTGRKRRCG WLDLMILRYA
360 370 380 390 400
HMVNGFTALA LTKLDILDVL GEVKVGVSYK LNGKRIPYFP ANQEMLQKVE
410 420 430 440 450
VEYETLPGWK ADTTGARRWE DLPPQAQNYI RFVENHVGVA VKWVGVGKSR

ESMIQLF
Length:457
Mass (Da):50,208
Last modified:October 1, 2002 - v1
Checksum:i387341D49721B2EF
GO
Isoform 2 (identifier: Q8N142-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-64: MSGTRASNDR...TDADIISRCQ → MVGRSCGVAT...AGSLTPGGER

Note: No experimental confirmation available.
Show »
Length:500
Mass (Da):54,562
Checksum:i9C561192088BDAAF
GO

Sequence cautioni

The sequence AAH32039 differs from that shown. Reason: Frameshift at position 1.Curated
The sequence CAD62614 differs from that shown. Reason: Erroneous initiation.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0084211 – 64MSGTR…ISRCQ → MVGRSCGVATQRQGGGQRPT NLALTLSSSPAHSTALPWLP PRSLQLLSGHSVPAQPTPHL PSACGGPTRVTLGEERAWRS HGSNAGGHTCLPRRTAGAGS LTPGGER in isoform 2. 1 PublicationAdd BLAST64

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY037159 mRNA. Translation: AAK67646.1.
AK095921 mRNA. Translation: BAC04649.1.
BX248286 mRNA. Translation: CAD62614.1. Different initiation.
BC032039 mRNA. Translation: AAH32039.1. Frameshift.
BC047904 mRNA. Translation: AAH47904.1.
CCDSiCCDS9990.1. [Q8N142-1]
CCDS9991.1. [Q8N142-2]
RefSeqiNP_001307353.1. NM_001320424.1.
NP_689541.1. NM_152328.4. [Q8N142-1]
NP_954634.1. NM_199165.2. [Q8N142-2]
UniGeneiHs.592327.

Genome annotation databases

EnsembliENST00000330877; ENSP00000331260; ENSG00000185100. [Q8N142-1]
ENST00000332972; ENSP00000333019; ENSG00000185100. [Q8N142-2]
GeneIDi122622.
KEGGihsa:122622.
UCSCiuc001ypd.5. human. [Q8N142-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY037159 mRNA. Translation: AAK67646.1.
AK095921 mRNA. Translation: BAC04649.1.
BX248286 mRNA. Translation: CAD62614.1. Different initiation.
BC032039 mRNA. Translation: AAH32039.1. Frameshift.
BC047904 mRNA. Translation: AAH47904.1.
CCDSiCCDS9990.1. [Q8N142-1]
CCDS9991.1. [Q8N142-2]
RefSeqiNP_001307353.1. NM_001320424.1.
NP_689541.1. NM_152328.4. [Q8N142-1]
NP_954634.1. NM_199165.2. [Q8N142-2]
UniGeneiHs.592327.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2GJOmodel-A27-457[»]
ProteinModelPortaliQ8N142.
SMRiQ8N142.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125783. 3 interactors.
IntActiQ8N142. 3 interactors.
MINTiMINT-3319213.
STRINGi9606.ENSP00000333019.

Chemistry databases

DrugBankiDB00128. L-Aspartic Acid.

PTM databases

iPTMnetiQ8N142.
PhosphoSitePlusiQ8N142.

Polymorphism and mutation databases

BioMutaiADSSL1.
DMDMi37537958.

Proteomic databases

EPDiQ8N142.
MaxQBiQ8N142.
PaxDbiQ8N142.
PeptideAtlasiQ8N142.
PRIDEiQ8N142.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000330877; ENSP00000331260; ENSG00000185100. [Q8N142-1]
ENST00000332972; ENSP00000333019; ENSG00000185100. [Q8N142-2]
GeneIDi122622.
KEGGihsa:122622.
UCSCiuc001ypd.5. human. [Q8N142-1]

Organism-specific databases

CTDi122622.
DisGeNETi122622.
GeneCardsiADSSL1.
HGNCiHGNC:20093. ADSSL1.
HPAiCAB018777.
MIMi612498. gene.
neXtProtiNX_Q8N142.
OpenTargetsiENSG00000185100.
PharmGKBiPA134974111.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1355. Eukaryota.
COG0104. LUCA.
GeneTreeiENSGT00390000015553.
HOGENOMiHOG000260959.
HOVERGENiHBG053768.
InParanoidiQ8N142.
KOiK01939.
OMAiSNGVRCD.
OrthoDBiEOG091G1BIK.
PhylomeDBiQ8N142.
TreeFamiTF300486.

Enzyme and pathway databases

UniPathwayiUPA00075; UER00335.
BioCyciZFISH:HS11919-MONOMER.
BRENDAi6.3.4.4. 2681.
ReactomeiR-HSA-73817. Purine ribonucleoside monophosphate biosynthesis.

Miscellaneous databases

GenomeRNAii122622.
PROiQ8N142.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000185100.
CleanExiHS_ADSSL1.
ExpressionAtlasiQ8N142. baseline and differential.
GenevisibleiQ8N142. HS.

Family and domain databases

CDDicd03108. AdSS. 1 hit.
HAMAPiMF_00011. Adenylosucc_synth. 1 hit.
MF_03126. Adenylosucc_synth_vert_basic. 1 hit.
InterProiIPR018220. Adenylosuccin_syn_GTP-bd.
IPR033128. Adenylosuccin_syn_Lys_AS.
IPR001114. Adenylosuccinate_synthetase.
IPR027509. AdSS_1_vert.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR11846. PTHR11846. 1 hit.
PfamiPF00709. Adenylsucc_synt. 1 hit.
[Graphical view]
SMARTiSM00788. Adenylsucc_synt. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR00184. purA. 1 hit.
PROSITEiPS01266. ADENYLOSUCCIN_SYN_1. 1 hit.
PS00513. ADENYLOSUCCIN_SYN_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPURA1_HUMAN
AccessioniPrimary (citable) accession number: Q8N142
Secondary accession number(s): Q86TT6, Q8N714
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2003
Last sequence update: October 1, 2002
Last modified: November 2, 2016
This is version 140 of the entry and version 1 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, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. 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.