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Protein

Adenylosuccinate lyase

Gene

ADSL

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

Functioni

Catalyzes two non-sequential steps in de novo AMP synthesis: converts (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate (SAICAR) to fumarate plus 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide, and thereby also contributes to de novo IMP synthesis, and converts succinyladenosine monophosphate (SAMP) to AMP and fumarate.1 Publication

Catalytic activityi

N6-(1,2-dicarboxyethyl)AMP = fumarate + AMP.2 Publications
(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate = fumarate + 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide.2 Publications

Activity regulationi

The enzyme reaction kinetics indicate cooperativity between subunits.2 Publications

Pathwayi: AMP biosynthesis via de novo pathway

This protein is involved in step 2 of the subpathway that synthesizes AMP from IMP.
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), Adenylosuccinate synthetase (purA), Adenylosuccinate synthetase
  2. Adenylosuccinate lyase (ADSL), Adenylosuccinate lyase (ADSL), Adenylosuccinate lyase (purB), Adenylosuccinate lyase, Adenylosuccinate lyase (ADSL), Adenylosuccinate lyase, Adenylosuccinate lyase, Adenylosuccinate lyase (ADSL), 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.

Pathwayi: IMP biosynthesis via de novo pathway

This protein is involved in step 2 of the subpathway that synthesizes 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide from 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxylate.
Proteins known to be involved in the 2 steps of the subpathway in this organism are:
  1. Multifunctional protein ADE2 (PAICS)
  2. Adenylosuccinate lyase (ADSL), Adenylosuccinate lyase (ADSL), Adenylosuccinate lyase (purB), Adenylosuccinate lyase, Adenylosuccinate lyase (ADSL), Adenylosuccinate lyase, Adenylosuccinate lyase, Adenylosuccinate lyase (ADSL), Adenylosuccinate lyase (ADSL)
This subpathway is part of the pathway IMP 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 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide from 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxylate, the pathway IMP biosynthesis via de novo pathway and in Purine metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei159Proton donor/acceptor1 Publication1
Binding sitei241Substrate1
Active sitei289Proton donor/acceptor1 Publication1
Binding sitei303Substrate; shared with neighboring subunit1
Binding sitei329Substrate1
Binding sitei334Substrate1
Binding sitei338Substrate1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionLyase
Biological processPurine biosynthesis

Enzyme and pathway databases

BioCyciMetaCyc:HS02059-MONOMER
BRENDAi4.3.2.2 2681
ReactomeiR-HSA-73817 Purine ribonucleoside monophosphate biosynthesis
SABIO-RKiP30566
UniPathwayi
UPA00074;UER00132

UPA00075;UER00336

Names & Taxonomyi

Protein namesi
Recommended name:
Adenylosuccinate lyase1 Publication (EC:4.3.2.22 Publications)
Short name:
ADSL1 Publication
Short name:
ASL
Alternative name(s):
Adenylosuccinase1 Publication
Short name:
ASase
Gene namesi
Name:ADSL
Synonyms:AMPS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000239900.11
HGNCiHGNC:291 ADSL
MIMi608222 gene
neXtProtiNX_P30566

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

Pathology & Biotechi

Involvement in diseasei

Adenylosuccinase deficiency (ADSLD)10 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by the accumulation in the body fluids of succinylaminoimidazole-carboxamide riboside (SAICA-riboside) and succinyladenosine (S-Ado). Most children display marked psychomotor delay, often accompanied by epilepsy or autistic features, or both, although some patients may be less profoundly retarded. Occasionally, growth retardation and muscular wasting are also present.
See also OMIM:103050
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0169302A → V in ADSLD; severe. 1 PublicationCorresponds to variant dbSNP:rs143083947EnsemblClinVar.1
Natural variantiVAR_0170783A → V in ADSLD; severe. 1 Publication1
Natural variantiVAR_01693126M → L in ADSLD; severe. 1 Publication1
Natural variantiVAR_00797272I → V in ADSLD; severe. 1 Publication1
Natural variantiVAR_017079100P → A in ADSLD; moderate. 1 PublicationCorresponds to variant dbSNP:rs119450942EnsemblClinVar.1
Natural variantiVAR_017080114Y → H in ADSLD; severe; total loss of activity. 1 PublicationCorresponds to variant dbSNP:rs374259530EnsemblClinVar.1
Natural variantiVAR_007973141R → W in ADSLD; severe. 2 PublicationsCorresponds to variant dbSNP:rs756210458EnsemblClinVar.1
Natural variantiVAR_007974190R → Q in ADSLD; moderate. 2 PublicationsCorresponds to variant dbSNP:rs28941471EnsemblClinVar.1
Natural variantiVAR_017081194R → C in ADSLD; severe; reduces protein stability. 2 Publications1
Natural variantiVAR_007975246K → E in ADSLD; moderate; strongly reduced catalytic activity. 2 PublicationsCorresponds to variant dbSNP:rs119450944EnsemblClinVar.1
Natural variantiVAR_017082268D → N in ADSLD; severe; total loss of activity. 1 PublicationCorresponds to variant dbSNP:rs746501563Ensembl.1
Natural variantiVAR_007976303R → C in ADSLD; mild; strongly reduced activity with SAMP, but only slightly reduced activity with SAICAR; abolishes cooperativity. 3 PublicationsCorresponds to variant dbSNP:rs373458753EnsemblClinVar.1
Natural variantiVAR_017083311L → V in ADSLD; severe; slightly reduced enzyme activity. 2 Publications1
Natural variantiVAR_017084318P → L in ADSLD; severe. Corresponds to variant dbSNP:rs202064195EnsemblClinVar.1
Natural variantiVAR_017085364V → M in ADSLD; severe. 1 PublicationCorresponds to variant dbSNP:rs370851726Ensembl.1
Natural variantiVAR_017086374R → W in ADSLD; severe. Corresponds to variant dbSNP:rs376533026EnsemblClinVar.1
Natural variantiVAR_007977395S → R in ADSLD; severe. 2 Publications1
Natural variantiVAR_017087396R → C in ADSLD; severe; abolishes cooperativity and reduces enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs755492501Ensembl.1
Natural variantiVAR_017088396R → H in ADSLD; severe; abolishes cooperativity and reduces enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs763542069EnsemblClinVar.1
Natural variantiVAR_017089422D → Y in ADSLD; moderate. 1 PublicationCorresponds to variant dbSNP:rs119450943EnsemblClinVar.1
Natural variantiVAR_017090423L → V in ADSLD; moderate. 1
Natural variantiVAR_007978426R → H in ADSLD; severe; most frequent mutation. 5 PublicationsCorresponds to variant dbSNP:rs119450941EnsemblClinVar.1
Natural variantiVAR_017091430D → N in ADSLD; mild. 1 PublicationCorresponds to variant dbSNP:rs554254383Ensembl.1
Natural variantiVAR_000680438S → P in ADSLD; severe. 1 PublicationCorresponds to variant dbSNP:rs119450940EnsemblClinVar.1
Natural variantiVAR_017092447S → P in ADSLD; severe. Corresponds to variant dbSNP:rs777821034EnsemblClinVar.1
Natural variantiVAR_016932450T → S in ADSLD; moderate. 1 PublicationCorresponds to variant dbSNP:rs372895468EnsemblClinVar.1
Natural variantiVAR_017093452R → P in ADSLD; severe. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi158
MalaCardsiADSL
MIMi103050 phenotype
OpenTargetsiENSG00000239900
Orphaneti46 Adenylosuccinate lyase deficiency
PharmGKBiPA24600

Polymorphism and mutation databases

BioMutaiADSL
DMDMi6686318

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00001378922 – 484Adenylosuccinate lyaseAdd BLAST483

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanine1 Publication1
Modified residuei147N6-acetyllysineCombined sources1
Modified residuei295N6-acetyllysineCombined sources1
Cross-linki415Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)Combined sources

Keywords - PTMi

Acetylation, Isopeptide bond, Ubl conjugation

Proteomic databases

EPDiP30566
PaxDbiP30566
PeptideAtlasiP30566
PRIDEiP30566
ProteomicsDBi54723
54724 [P30566-2]

PTM databases

iPTMnetiP30566
PhosphoSitePlusiP30566
SwissPalmiP30566

Expressioni

Tissue specificityi

Ubiquitously expressed. Both isoforms are produced by all tissues. Isoform 2 is 10-fold less abundant than isoform 1.

Gene expression databases

BgeeiENSG00000239900 Expressed in 196 organ(s), highest expression level in muscle of leg
CleanExiHS_ADSL
ExpressionAtlasiP30566 baseline and differential
GenevisibleiP30566 HS

Organism-specific databases

HPAiCAB019285
HPA000525

Interactioni

Subunit structurei

Homotetramer. Residues from neighboring subunits contribute catalytic and substrate-binding residues to each active site.2 Publications

Protein-protein interaction databases

BioGridi106667, 73 interactors
IntActiP30566, 20 interactors
MINTiP30566
STRINGi9606.ENSP00000216194

Structurei

Secondary structure

1484
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP30566
SMRiP30566
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP30566

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni20 – 21Substrate binding; shared with neighboring subunit2
Regioni85 – 87Substrate binding3
Regioni111 – 112Substrate binding2

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG2700 Eukaryota
COG0015 LUCA
GeneTreeiENSGT00390000013486
HOGENOMiHOG000033915
HOVERGENiHBG000214
InParanoidiP30566
KOiK01756
PhylomeDBiP30566
TreeFamiTF106385

Family and domain databases

Gene3Di1.10.275.10, 1 hit
InterProiView protein in InterPro
IPR019468 AdenyloSucc_lyase_C
IPR024083 Fumarase/histidase_N
IPR020557 Fumarate_lyase_CS
IPR000362 Fumarate_lyase_fam
IPR022761 Fumarate_lyase_N
IPR008948 L-Aspartase-like
IPR004769 Pur_lyase
PfamiView protein in Pfam
PF10397 ADSL_C, 1 hit
PF00206 Lyase_1, 1 hit
PRINTSiPR00149 FUMRATELYASE
SMARTiView protein in SMART
SM00998 ADSL_C, 1 hit
SUPFAMiSSF48557 SSF48557, 1 hit
TIGRFAMsiTIGR00928 purB, 1 hit
PROSITEiView protein in PROSITE
PS00163 FUMARATE_LYASES, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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

This entry has 2 described isoforms and 15 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P30566-1) [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
MAAGGDHGSP DSYRSPLASR YASPEMCFVF SDRYKFRTWR QLWLWLAEAE
60 70 80 90 100
QTLGLPITDE QIQEMKSNLE NIDFKMAAEE EKRLRHDVMA HVHTFGHCCP
110 120 130 140 150
KAAGIIHLGA TSCYVGDNTD LIILRNALDL LLPKLARVIS RLADFAKERA
160 170 180 190 200
SLPTLGFTHF QPAQLTTVGK RCCLWIQDLC MDLQNLKRVR DDLRFRGVKG
210 220 230 240 250
TTGTQASFLQ LFEGDDHKVE QLDKMVTEKA GFKRAFIITG QTYTRKVDIE
260 270 280 290 300
VLSVLASLGA SVHKICTDIR LLANLKEMEE PFEKQQIGSS AMPYKRNPMR
310 320 330 340 350
SERCCSLARH LMTLVMDPLQ TASVQWFERT LDDSANRRIC LAEAFLTADT
360 370 380 390 400
ILNTLQNISE GLVVYPKVIE RRIRQELPFM ATENIIMAMV KAGGSRQDCH
410 420 430 440 450
EKIRVLSQQA ASVVKQEGGD NDLIERIQVD AYFSPIHSQL DHLLDPSSFT
460 470 480
GRASQQVQRF LEEEVYPLLK PYESVMKVKA ELCL
Length:484
Mass (Da):54,889
Last modified:May 30, 2000 - v2
Checksum:i7AA3A0A2C681FD94
GO
Isoform 2 (identifier: P30566-2) [UniParc]FASTAAdd to basket
Also known as: Delta-ADSL

The sequence of this isoform differs from the canonical sequence as follows:
     398-456: Missing.

Note: Lacks enzymatic activity.
Show »
Length:425
Mass (Da):48,328
Checksum:i66356963E46FDA3D
GO

Computationally mapped potential isoform sequencesi

There are 15 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A6YY92A0A0A6YY92_HUMAN
Adenylosuccinate lyase
ADSL
498Annotation score:
A0A1B0GWJ0A0A1B0GWJ0_HUMAN
Adenylosuccinate lyase
ADSL
480Annotation score:
A0A1B0GTJ7A0A1B0GTJ7_HUMAN
Adenylosuccinate lyase
ADSL
480Annotation score:
A0A096LNY6A0A096LNY6_HUMAN
Adenylosuccinate lyase
ADSL
360Annotation score:
A0A1B0GWF8A0A1B0GWF8_HUMAN
Adenylosuccinate lyase
ADSL
403Annotation score:
A0A096LNY5A0A096LNY5_HUMAN
Adenylosuccinate lyase
ADSL
262Annotation score:
A0A096LNY4A0A096LNY4_HUMAN
Adenylosuccinate lyase
ADSL
164Annotation score:
A0A096LP72A0A096LP72_HUMAN
Adenylosuccinate lyase
ADSL
149Annotation score:
A0A1B0GTG9A0A1B0GTG9_HUMAN
Adenylosuccinate lyase
ADSL
377Annotation score:
B4DEP1B4DEP1_HUMAN
Adenylosuccinate lyase
ADSL
127Annotation score:
There are more potential isoformsShow all

Sequence cautioni

The sequence AAC60603 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAA46697 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0169302A → V in ADSLD; severe. 1 PublicationCorresponds to variant dbSNP:rs143083947EnsemblClinVar.1
Natural variantiVAR_0170783A → V in ADSLD; severe. 1 Publication1
Natural variantiVAR_01693126M → L in ADSLD; severe. 1 Publication1
Natural variantiVAR_03788331S → N. Corresponds to variant dbSNP:rs5757921Ensembl.1
Natural variantiVAR_00797272I → V in ADSLD; severe. 1 Publication1
Natural variantiVAR_017079100P → A in ADSLD; moderate. 1 PublicationCorresponds to variant dbSNP:rs119450942EnsemblClinVar.1
Natural variantiVAR_017080114Y → H in ADSLD; severe; total loss of activity. 1 PublicationCorresponds to variant dbSNP:rs374259530EnsemblClinVar.1
Natural variantiVAR_007973141R → W in ADSLD; severe. 2 PublicationsCorresponds to variant dbSNP:rs756210458EnsemblClinVar.1
Natural variantiVAR_037884147K → M. Corresponds to variant dbSNP:rs11089991EnsemblClinVar.1
Natural variantiVAR_007974190R → Q in ADSLD; moderate. 2 PublicationsCorresponds to variant dbSNP:rs28941471EnsemblClinVar.1
Natural variantiVAR_017081194R → C in ADSLD; severe; reduces protein stability. 2 Publications1
Natural variantiVAR_007975246K → E in ADSLD; moderate; strongly reduced catalytic activity. 2 PublicationsCorresponds to variant dbSNP:rs119450944EnsemblClinVar.1
Natural variantiVAR_017082268D → N in ADSLD; severe; total loss of activity. 1 PublicationCorresponds to variant dbSNP:rs746501563Ensembl.1
Natural variantiVAR_007976303R → C in ADSLD; mild; strongly reduced activity with SAMP, but only slightly reduced activity with SAICAR; abolishes cooperativity. 3 PublicationsCorresponds to variant dbSNP:rs373458753EnsemblClinVar.1
Natural variantiVAR_017083311L → V in ADSLD; severe; slightly reduced enzyme activity. 2 Publications1
Natural variantiVAR_017084318P → L in ADSLD; severe. Corresponds to variant dbSNP:rs202064195EnsemblClinVar.1
Natural variantiVAR_017085364V → M in ADSLD; severe. 1 PublicationCorresponds to variant dbSNP:rs370851726Ensembl.1
Natural variantiVAR_017086374R → W in ADSLD; severe. Corresponds to variant dbSNP:rs376533026EnsemblClinVar.1
Natural variantiVAR_007977395S → R in ADSLD; severe. 2 Publications1
Natural variantiVAR_017087396R → C in ADSLD; severe; abolishes cooperativity and reduces enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs755492501Ensembl.1
Natural variantiVAR_017088396R → H in ADSLD; severe; abolishes cooperativity and reduces enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs763542069EnsemblClinVar.1
Natural variantiVAR_017089422D → Y in ADSLD; moderate. 1 PublicationCorresponds to variant dbSNP:rs119450943EnsemblClinVar.1
Natural variantiVAR_017090423L → V in ADSLD; moderate. 1
Natural variantiVAR_007978426R → H in ADSLD; severe; most frequent mutation. 5 PublicationsCorresponds to variant dbSNP:rs119450941EnsemblClinVar.1
Natural variantiVAR_017091430D → N in ADSLD; mild. 1 PublicationCorresponds to variant dbSNP:rs554254383Ensembl.1
Natural variantiVAR_000680438S → P in ADSLD; severe. 1 PublicationCorresponds to variant dbSNP:rs119450940EnsemblClinVar.1
Natural variantiVAR_017092447S → P in ADSLD; severe. Corresponds to variant dbSNP:rs777821034EnsemblClinVar.1
Natural variantiVAR_016932450T → S in ADSLD; moderate. 1 PublicationCorresponds to variant dbSNP:rs372895468EnsemblClinVar.1
Natural variantiVAR_017093452R → P in ADSLD; severe. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_000318398 – 456Missing in isoform 2. 2 PublicationsAdd BLAST59

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X65867 mRNA Translation: CAA46696.1
X65867 mRNA Translation: CAA46697.1 Different initiation.
AF067853 mRNA Translation: AAC21560.1
AF067854 mRNA Translation: AAC21561.1
CR456368 mRNA Translation: CAG30254.1
AL022238 Genomic DNA No translation available.
CH471095 Genomic DNA Translation: EAW60375.1
BC000253 mRNA Translation: AAH00253.1
S60710 mRNA Translation: AAC60603.1 Different initiation.
CCDSiCCDS14001.1 [P30566-1]
CCDS46714.1 [P30566-2]
RefSeqiNP_000017.1, NM_000026.3 [P30566-1]
NP_001116850.1, NM_001123378.2 [P30566-2]
NP_001304852.1, NM_001317923.1
UniGeneiHs.75527

Genome annotation databases

EnsembliENST00000342312; ENSP00000341429; ENSG00000239900 [P30566-2]
ENST00000623063; ENSP00000485525; ENSG00000239900 [P30566-1]
GeneIDi158
KEGGihsa:158
UCSCiuc003ays.5 human [P30566-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Web resourcesi

ADSLdb

Adenylosuccinate lyase mutations database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X65867 mRNA Translation: CAA46696.1
X65867 mRNA Translation: CAA46697.1 Different initiation.
AF067853 mRNA Translation: AAC21560.1
AF067854 mRNA Translation: AAC21561.1
CR456368 mRNA Translation: CAG30254.1
AL022238 Genomic DNA No translation available.
CH471095 Genomic DNA Translation: EAW60375.1
BC000253 mRNA Translation: AAH00253.1
S60710 mRNA Translation: AAC60603.1 Different initiation.
CCDSiCCDS14001.1 [P30566-1]
CCDS46714.1 [P30566-2]
RefSeqiNP_000017.1, NM_000026.3 [P30566-1]
NP_001116850.1, NM_001123378.2 [P30566-2]
NP_001304852.1, NM_001317923.1
UniGeneiHs.75527

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2J91X-ray1.80A/B/C/D1-481[»]
2VD6X-ray2.00A/B/C/D1-481[»]
4FFXX-ray2.70A/B/C/D1-484[»]
4FLCX-ray2.60A/B/C/D1-484[»]
ProteinModelPortaliP30566
SMRiP30566
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106667, 73 interactors
IntActiP30566, 20 interactors
MINTiP30566
STRINGi9606.ENSP00000216194

PTM databases

iPTMnetiP30566
PhosphoSitePlusiP30566
SwissPalmiP30566

Polymorphism and mutation databases

BioMutaiADSL
DMDMi6686318

Proteomic databases

EPDiP30566
PaxDbiP30566
PeptideAtlasiP30566
PRIDEiP30566
ProteomicsDBi54723
54724 [P30566-2]

Protocols and materials databases

DNASUi158
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000342312; ENSP00000341429; ENSG00000239900 [P30566-2]
ENST00000623063; ENSP00000485525; ENSG00000239900 [P30566-1]
GeneIDi158
KEGGihsa:158
UCSCiuc003ays.5 human [P30566-1]

Organism-specific databases

CTDi158
DisGeNETi158
EuPathDBiHostDB:ENSG00000239900.11
GeneCardsiADSL
HGNCiHGNC:291 ADSL
HPAiCAB019285
HPA000525
MalaCardsiADSL
MIMi103050 phenotype
608222 gene
neXtProtiNX_P30566
OpenTargetsiENSG00000239900
Orphaneti46 Adenylosuccinate lyase deficiency
PharmGKBiPA24600
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2700 Eukaryota
COG0015 LUCA
GeneTreeiENSGT00390000013486
HOGENOMiHOG000033915
HOVERGENiHBG000214
InParanoidiP30566
KOiK01756
PhylomeDBiP30566
TreeFamiTF106385

Enzyme and pathway databases

UniPathwayi
UPA00074;UER00132

UPA00075;UER00336

BioCyciMetaCyc:HS02059-MONOMER
BRENDAi4.3.2.2 2681
ReactomeiR-HSA-73817 Purine ribonucleoside monophosphate biosynthesis
SABIO-RKiP30566

Miscellaneous databases

EvolutionaryTraceiP30566
GeneWikiiAdenylosuccinate_lyase
GenomeRNAii158
PROiPR:P30566
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000239900 Expressed in 196 organ(s), highest expression level in muscle of leg
CleanExiHS_ADSL
ExpressionAtlasiP30566 baseline and differential
GenevisibleiP30566 HS

Family and domain databases

Gene3Di1.10.275.10, 1 hit
InterProiView protein in InterPro
IPR019468 AdenyloSucc_lyase_C
IPR024083 Fumarase/histidase_N
IPR020557 Fumarate_lyase_CS
IPR000362 Fumarate_lyase_fam
IPR022761 Fumarate_lyase_N
IPR008948 L-Aspartase-like
IPR004769 Pur_lyase
PfamiView protein in Pfam
PF10397 ADSL_C, 1 hit
PF00206 Lyase_1, 1 hit
PRINTSiPR00149 FUMRATELYASE
SMARTiView protein in SMART
SM00998 ADSL_C, 1 hit
SUPFAMiSSF48557 SSF48557, 1 hit
TIGRFAMsiTIGR00928 purB, 1 hit
PROSITEiView protein in PROSITE
PS00163 FUMARATE_LYASES, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPUR8_HUMAN
AccessioniPrimary (citable) accession number: P30566
Secondary accession number(s): B0QY76, O75495, Q5TI34
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: May 30, 2000
Last modified: November 7, 2018
This is version 197 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  7. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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