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Protein

Adenylosuccinate lyase

Gene

ADSL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

The enzyme reaction kinetics indicate cooperativity between subunits.2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>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 (purA), Adenylosuccinate synthetase, Adenylosuccinate synthetase isozyme 2 (ADSS), Adenylosuccinate synthetase isozyme 2 (ADSS), Adenylosuccinate synthetase isozyme 2 (ADSS), Adenylosuccinate synthetase isozyme 1 (ADSSL1)
  2. Adenylosuccinate lyase (ADSL), Adenylosuccinate lyase, Adenylosuccinate lyase, Adenylosuccinate lyase (purB), Adenylosuccinate lyase (ADSL), Adenylosuccinate lyase, Adenylosuccinate lyase (ADSL), 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, Adenylosuccinate lyase, Adenylosuccinate lyase (purB), Adenylosuccinate lyase (ADSL), Adenylosuccinate lyase, Adenylosuccinate lyase (ADSL), 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
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei159Proton donor/acceptor1 Publication1
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei241Substrate1
Active sitei289Proton donor/acceptor1 Publication1
Binding sitei303Substrate; shared with neighboring subunit1
Binding sitei329Substrate1
Binding sitei334Substrate1
Binding sitei338Substrate1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionLyase
Biological processPurine biosynthesis

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS02059-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
4.3.2.2 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-73817 Purine ribonucleoside monophosphate biosynthesis

SABIO-RK: Biochemical Reaction Kinetics Database

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SABIO-RKi
P30566

UniPathway: a resource for the exploration and annotation of metabolic pathways

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UniPathwayi
UPA00074;UER00132

UPA00075;UER00336

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ADSL
Synonyms:AMPS
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 22

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000239900.11

Human Gene Nomenclature Database

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HGNCi
HGNC:291 ADSL

Online Mendelian Inheritance in Man (OMIM)

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MIMi
608222 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P30566

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

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DisGeNETi
158

MalaCards human disease database

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MalaCardsi
ADSL
MIMi103050 phenotype

Open Targets

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OpenTargetsi
ENSG00000239900

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
46 Adenylosuccinate lyase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA24600

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
ADSL

Domain mapping of disease mutations (DMDM)

More...
DMDMi
6686318

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved1 Publication
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001378922 – 484Adenylosuccinate lyaseAdd BLAST483

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanine1 Publication1
Modified residuei147N6-acetyllysineCombined sources1
Modified residuei295N6-acetyllysineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki415Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)Combined sources

Keywords - PTMi

Acetylation, Isopeptide bond, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P30566

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P30566

PeptideAtlas

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PeptideAtlasi
P30566

PRoteomics IDEntifications database

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PRIDEi
P30566

ProteomicsDB human proteome resource

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ProteomicsDBi
54723
54724 [P30566-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P30566

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P30566

SwissPalm database of S-palmitoylation events

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SwissPalmi
P30566

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000239900 Expressed in 196 organ(s), highest expression level in muscle of leg

CleanEx database of gene expression profiles

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CleanExi
HS_ADSL

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P30566 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P30566 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB019285
HPA000525

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
106667, 72 interactors

Protein interaction database and analysis system

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IntActi
P30566, 20 interactors

Molecular INTeraction database

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MINTi
P30566

STRING: functional protein association networks

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STRINGi
9606.ENSP00000216194

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P30566

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P30566

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P30566

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni20 – 21Substrate binding; shared with neighboring subunit2
Regioni85 – 87Substrate binding3
Regioni111 – 112Substrate binding2

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2700 Eukaryota
COG0015 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000013486

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000033915

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG000214

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P30566

KEGG Orthology (KO)

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KOi
K01756

Database for complete collections of gene phylogenies

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PhylomeDBi
P30566

TreeFam database of animal gene trees

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TreeFami
TF106385

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.275.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View 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

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF10397 ADSL_C, 1 hit
PF00206 Lyase_1, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00149 FUMRATELYASE

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00998 ADSL_C, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48557 SSF48557, 1 hit

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR00928 purB, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00163 FUMARATE_LYASES, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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.

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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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GWJ0A0A1B0GWJ0_HUMAN
Adenylosuccinate lyase
ADSL
480Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GTJ7A0A1B0GTJ7_HUMAN
Adenylosuccinate lyase
ADSL
480Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A096LNY6A0A096LNY6_HUMAN
Adenylosuccinate lyase
ADSL
360Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GWF8A0A1B0GWF8_HUMAN
Adenylosuccinate lyase
ADSL
403Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A096LNY5A0A096LNY5_HUMAN
Adenylosuccinate lyase
ADSL
262Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A096LNY4A0A096LNY4_HUMAN
Adenylosuccinate lyase
ADSL
164Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A096LP72A0A096LP72_HUMAN
Adenylosuccinate lyase
ADSL
149Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B4DEP1B4DEP1_HUMAN
Adenylosuccinate lyase
ADSL
127Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GTG9A0A1B0GTG9_HUMAN
Adenylosuccinate lyase
ADSL
377Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_000318398 – 456Missing in isoform 2. 2 PublicationsAdd BLAST59

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS14001.1 [P30566-1]
CCDS46714.1 [P30566-2]

NCBI Reference Sequences

More...
RefSeqi
NP_000017.1, NM_000026.3 [P30566-1]
NP_001116850.1, NM_001123378.2 [P30566-2]
NP_001304852.1, NM_001317923.1

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.75527

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000342312; ENSP00000341429; ENSG00000239900 [P30566-2]
ENST00000623063; ENSP00000485525; ENSG00000239900 [P30566-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
158

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:158

UCSC genome browser

More...
UCSCi
uc003ays.5 human [P30566-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
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, 72 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

The DNASU plasmid repository

More...
DNASUi
158
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

Comparative Toxicogenomics Database

More...
CTDi
158
DisGeNETi158
EuPathDBiHostDB:ENSG00000239900.11

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ADSL
HGNCiHGNC:291 ADSL
HPAiCAB019285
HPA000525
MalaCardsiADSL
MIMi103050 phenotype
608222 gene
neXtProtiNX_P30566
OpenTargetsiENSG00000239900
Orphaneti46 Adenylosuccinate lyase deficiency
PharmGKBiPA24600

GenAtlas: human gene database

More...
GenAtlasi
Search...

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

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Adenylosuccinate_lyase

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
158

Protein Ontology

More...
PROi
PR:P30566

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPUR8_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P30566
Secondary accession number(s): B0QY76, O75495, Q5TI34
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: May 30, 2000
Last modified: December 5, 2018
This is version 198 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

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

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  7. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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