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Entry version 190 (18 Sep 2019)
Sequence version 2 (16 Apr 2002)
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Protein

Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2

Gene

PAPSS2

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

Bifunctional enzyme with both ATP sulfurylase and APS kinase activity, which mediates two steps in the sulfate activation pathway. The first step is the transfer of a sulfate group to ATP to yield adenosine 5'-phosphosulfate (APS), and the second step is the transfer of a phosphate group from ATP to APS yielding 3'-phosphoadenylylsulfate (PAPS: activated sulfate donor used by sulfotransferase). In mammals, PAPS is the sole source of sulfate; APS appears to be only an intermediate in the sulfate-activation pathway. May have an important role in skeletogenesis during postnatal growth (By similarity).By similarity

<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 <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: sulfate assimilation

This protein is involved in the pathway sulfate assimilation, which is part of Sulfur metabolism.
View all proteins of this organism that are known to be involved in the pathway sulfate assimilation and in Sulfur metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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 sitei91Adenylyl sulfateBy similarity1
Binding sitei161Adenylyl sulfateBy similarity1
Binding sitei197ATP 1; via carbonyl oxygenCombined sources1 Publication1
Binding sitei553ATP 2; via amide nitrogen and carbonyl oxygenBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi52 – 57ATP 1Combined sources1 Publication6
Nucleotide bindingi409 – 412ATP 2By similarity4
Nucleotide bindingi511 – 515ATP 2By similarity5

<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 functionKinase, Multifunctional enzyme, Nucleotidyltransferase, Transferase
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS07544-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.7.1.25 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-174362 Transport and synthesis of PAPS
R-HSA-2408550 Metabolism of ingested H2SeO4 and H2SeO3 into H2Se
R-HSA-3560796 Defective PAPSS2 causes SEMD-PA

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
O95340

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

More...
UniPathwayi
UPA00097

<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:
Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2
Short name:
PAPS synthase 2
Short name:
PAPSS 2
Alternative name(s):
Sulfurylase kinase 2
Short name:
SK 2
Short name:
SK2
Including the following 2 domains:
Sulfate adenylyltransferase (EC:2.7.7.4)
Alternative name(s):
ATP-sulfurylase
Sulfate adenylate transferase
Short name:
SAT
Adenylyl-sulfate kinase (EC:2.7.1.25)
Alternative name(s):
3'-phosphoadenosine-5'-phosphosulfate synthase
APS kinase
Adenosine-5'-phosphosulfate 3'-phosphotransferase
Adenylylsulfate 3'-phosphotransferase
<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:PAPSS2
Synonyms:ATPSK2
<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 10

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:8604 PAPSS2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
603005 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O95340

<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 & Seán O’Donoghue; 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

Brachyolmia type 4 with mild epiphyseal and metaphyseal changes (BCYM4)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of brachyolmia, a clinically and genetically heterogeneous skeletal dysplasia primarily affecting the spine and characterized by a short trunk, short stature, and platyspondyly. BCYM4 is an autosomal recessive form with mild epiphyseal and metaphyseal changes. Clinical features include short stature evidenced at birth, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints. Some BCYM4 patients may manifest premature pubarche and hyperandrogenism associated with skeletal dysplasia and short stature.
Related information in OMIM
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_07302643C → Y in BCYM4; reduces strongly PAPS synthase activity. 1 Publication1
Natural variantiVAR_06304948T → R in BCYM4; patient with premature pubarche and hyperandrogenism; results in partial loss of activity; increases ubiquitin-dependent protein instability. 2 PublicationsCorresponds to variant dbSNP:rs121908951EnsemblClinVar.1
Natural variantiVAR_07302776L → Q in BCYM4; reduces strongly PAPS synthase activity. 1 Publication1
Natural variantiVAR_073029270G → D in BCYM4; increases ubiquitin-dependent protein instability. 1 PublicationCorresponds to variant dbSNP:rs138943074EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNET

More...
DisGeNETi
9060

MalaCards human disease database

More...
MalaCardsi
PAPSS2
MIMi612847 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000198682

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

More...
Orphaneti
448242 Autosomal recessive brachyolmia
93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA383

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL4105790

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PAPSS2

<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 ‘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_00001059611 – 614Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2Add BLAST614

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O95340

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O95340

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
O95340

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

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PaxDbi
O95340

PeptideAtlas

More...
PeptideAtlasi
O95340

PRoteomics IDEntifications database

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PRIDEi
O95340

ProteomicsDB human proteome resource

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ProteomicsDBi
50808 [O95340-1]
50809 [O95340-2]

Consortium for Top Down Proteomics

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TopDownProteomicsi
O95340-1 [O95340-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O95340

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

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PhosphoSitePlusi
O95340

SwissPalm database of S-palmitoylation events

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SwissPalmi
O95340

<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

Expressed in cartilage and adrenal gland.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000198682 Expressed in 215 organ(s), highest expression level in metanephros

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O95340 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O95340 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA071224

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
114521, 21 interactors

Protein interaction database and analysis system

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IntActi
O95340, 6 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000406157

<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

1614
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
O95340

Database of comparative protein structure models

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ModBasei
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
O95340

<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>Regioni1 – 215Adenylyl-sulfate kinaseCuratedAdd BLAST215
Regioni79 – 82Adenylyl sulfate bindingBy similarity4
Regioni96 – 99Adenylyl sulfate bindingBy similarity4
Regioni122 – 123Adenylyl sulfate bindingBy similarity2
Regioni174 – 175Adenylyl sulfate bindingBy similarity2
Regioni224 – 614Sulfate adenylyltransferaseCuratedAdd BLAST391

<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

In the N-terminal section; belongs to the APS kinase family.Curated
In the C-terminal section; belongs to the sulfate adenylyltransferase family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0635 Eukaryota
KOG4238 Eukaryota
COG0529 LUCA
COG2046 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000009613

KEGG Orthology (KO)

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KOi
K13811

Identification of Orthologs from Complete Genome Data

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OMAi
TCAKHPH

Database of Orthologous Groups

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OrthoDBi
528280at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O95340

TreeFam database of animal gene trees

More...
TreeFami
TF313143

Family and domain databases

Conserved Domains Database

More...
CDDi
cd02027 APSK, 1 hit
cd00517 ATPS, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.40.50.620, 1 hit

HAMAP database of protein families

More...
HAMAPi
MF_00065 Adenylyl_sulf_kinase, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR002891 APS_kinase
IPR025980 ATP-Sase_PUA-like_dom
IPR027417 P-loop_NTPase
IPR015947 PUA-like_sf
IPR014729 Rossmann-like_a/b/a_fold
IPR024951 Sulfurylase_cat_dom
IPR002650 Sulphate_adenylyltransferase

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01747 ATP-sulfurylase, 1 hit
PF14306 PUA_2, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52540 SSF52540, 1 hit
SSF88697 SSF88697, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00455 apsK, 1 hit
TIGR00339 sopT, 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>. The information is filed in different subsections. The current subsections and their content are listed below:<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.

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
Isoform A (identifier: O95340-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MSGIKKQKTE NQQKSTNVVY QAHHVSRNKR GQVVGTRGGF RGCTVWLTGL
60 70 80 90 100
SGAGKTTISF ALEEYLVSHA IPCYSLDGDN VRHGLNRNLG FSPGDREENI
110 120 130 140 150
RRIAEVAKLF ADAGLVCITS FISPFAKDRE NARKIHESAG LPFFEIFVDA
160 170 180 190 200
PLNICESRDV KGLYKRARAG EIKGFTGIDS DYEKPETPER VLKTNLSTVS
210 220 230 240 250
DCVHQVVELL QEQNIVPYTI IKDIHELFVP ENKLDHVRAE AETLPSLSIT
260 270 280 290 300
KLDLQWVQVL SEGWATPLKG FMREKEYLQV MHFDTLLDDG VINMSIPIVL
310 320 330 340 350
PVSAEDKTRL EGCSKFVLAH GGRRVAILRD AEFYEHRKEE RCSRVWGTTC
360 370 380 390 400
TKHPHIKMVM ESGDWLVGGD LQVLEKIRWN DGLDQYRLTP LELKQKCKEM
410 420 430 440 450
NADAVFAFQL RNPVHNGHAL LMQDTRRRLL ERGYKHPVLL LHPLGGWTKD
460 470 480 490 500
DDVPLDWRMK QHAAVLEEGV LDPKSTIVAI FPSPMLYAGP TEVQWHCRSR
510 520 530 540 550
MIAGANFYIV GRDPAGMPHP ETKKDLYEPT HGGKVLSMAP GLTSVEIIPF
560 570 580 590 600
RVAAYNKAKK AMDFYDPARH NEFDFISGTR MRKLAREGEN PPDGFMAPKA
610
WKVLTDYYRS LEKN
Length:614
Mass (Da):69,501
Last modified:April 16, 2002 - 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:i52F4B6D972DDA91E
GO
Isoform B (identifier: O95340-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     288-288: D → DGMALP

Show »
Length:619
Mass (Da):69,970
Checksum:iD4268D03982283E6
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti166R → K in AAD38423 (Ref. 2) Curated1
Sequence conflicti361E → G in AAK00296 (Ref. 3) Curated1
Sequence conflicti426R → C in AAC64583 (PubMed:9771708).Curated1
Sequence conflicti567P → L in AAD38423 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02913610E → K Significant decrease of activity. 1 PublicationCorresponds to variant dbSNP:rs17173698EnsemblClinVar.1
Natural variantiVAR_07302643C → Y in BCYM4; reduces strongly PAPS synthase activity. 1 Publication1
Natural variantiVAR_06304948T → R in BCYM4; patient with premature pubarche and hyperandrogenism; results in partial loss of activity; increases ubiquitin-dependent protein instability. 2 PublicationsCorresponds to variant dbSNP:rs121908951EnsemblClinVar.1
Natural variantiVAR_07302776L → Q in BCYM4; reduces strongly PAPS synthase activity. 1 Publication1
Natural variantiVAR_073028183E → K Polymorphism; similar PAPS synthase activity as the wild-type. 1 PublicationCorresponds to variant dbSNP:rs774709274Ensembl.1
Natural variantiVAR_073029270G → D in BCYM4; increases ubiquitin-dependent protein instability. 1 PublicationCorresponds to variant dbSNP:rs138943074EnsemblClinVar.1
Natural variantiVAR_029137281M → L1 PublicationCorresponds to variant dbSNP:rs45624631Ensembl.1
Natural variantiVAR_022077291V → M Significant decrease of activity. 1 PublicationCorresponds to variant dbSNP:rs45467596Ensembl.1
Natural variantiVAR_029138432R → K1 PublicationCorresponds to variant dbSNP:rs17129133Ensembl.1

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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_001259288D → DGMALP in isoform B. 2 Publications1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF091242 mRNA Translation: AAC64583.1
AF074331 mRNA Translation: AAD38423.1
AF313907 mRNA Translation: AAK00296.1
AF160509
, AF160503, AF160504, AF160505, AF160506, AF160507, AF160508 Genomic DNA Translation: AAF40307.2
AF173365 mRNA Translation: AAF12761.1
AF150754 mRNA Translation: AAF20366.2
BC009894 mRNA Translation: AAH09894.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS44453.1 [O95340-2]
CCDS7385.1 [O95340-1]

NCBI Reference Sequences

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RefSeqi
NP_001015880.1, NM_001015880.1 [O95340-2]
NP_004661.2, NM_004670.3 [O95340-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000361175; ENSP00000354436; ENSG00000198682 [O95340-1]
ENST00000456849; ENSP00000406157; ENSG00000198682 [O95340-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
9060

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9060

UCSC genome browser

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UCSCi
uc001kew.4 human [O95340-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF091242 mRNA Translation: AAC64583.1
AF074331 mRNA Translation: AAD38423.1
AF313907 mRNA Translation: AAK00296.1
AF160509
, AF160503, AF160504, AF160505, AF160506, AF160507, AF160508 Genomic DNA Translation: AAF40307.2
AF173365 mRNA Translation: AAF12761.1
AF150754 mRNA Translation: AAF20366.2
BC009894 mRNA Translation: AAH09894.1
CCDSiCCDS44453.1 [O95340-2]
CCDS7385.1 [O95340-1]
RefSeqiNP_001015880.1, NM_001015880.1 [O95340-2]
NP_004661.2, NM_004670.3 [O95340-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2AX4X-ray2.50A/B/C/D21-218[»]
SMRiO95340
ModBaseiSearch...

Protein-protein interaction databases

BioGridi114521, 21 interactors
IntActiO95340, 6 interactors
STRINGi9606.ENSP00000406157

Chemistry databases

ChEMBLiCHEMBL4105790

PTM databases

iPTMnetiO95340
PhosphoSitePlusiO95340
SwissPalmiO95340

Polymorphism and mutation databases

BioMutaiPAPSS2

Proteomic databases

EPDiO95340
jPOSTiO95340
MassIVEiO95340
PaxDbiO95340
PeptideAtlasiO95340
PRIDEiO95340
ProteomicsDBi50808 [O95340-1]
50809 [O95340-2]
TopDownProteomicsiO95340-1 [O95340-1]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
9060
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000361175; ENSP00000354436; ENSG00000198682 [O95340-1]
ENST00000456849; ENSP00000406157; ENSG00000198682 [O95340-2]
GeneIDi9060
KEGGihsa:9060
UCSCiuc001kew.4 human [O95340-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
9060
DisGeNETi9060

GeneCards: human genes, protein and diseases

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GeneCardsi
PAPSS2
HGNCiHGNC:8604 PAPSS2
HPAiHPA071224
MalaCardsiPAPSS2
MIMi603005 gene
612847 phenotype
neXtProtiNX_O95340
OpenTargetsiENSG00000198682
Orphaneti448242 Autosomal recessive brachyolmia
93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type
PharmGKBiPA383

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG0635 Eukaryota
KOG4238 Eukaryota
COG0529 LUCA
COG2046 LUCA
GeneTreeiENSGT00390000009613
KOiK13811
OMAiTCAKHPH
OrthoDBi528280at2759
PhylomeDBiO95340
TreeFamiTF313143

Enzyme and pathway databases

UniPathwayiUPA00097
BioCyciMetaCyc:HS07544-MONOMER
BRENDAi2.7.1.25 2681
ReactomeiR-HSA-174362 Transport and synthesis of PAPS
R-HSA-2408550 Metabolism of ingested H2SeO4 and H2SeO3 into H2Se
R-HSA-3560796 Defective PAPSS2 causes SEMD-PA
SABIO-RKiO95340

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
PAPSS2 human
EvolutionaryTraceiO95340

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
PAPSS2

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

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GenomeRNAii
9060

Pharos

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Pharosi
O95340

Protein Ontology

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PROi
PR:O95340

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000198682 Expressed in 215 organ(s), highest expression level in metanephros
ExpressionAtlasiO95340 baseline and differential
GenevisibleiO95340 HS

Family and domain databases

CDDicd02027 APSK, 1 hit
cd00517 ATPS, 1 hit
Gene3Di3.40.50.620, 1 hit
HAMAPiMF_00065 Adenylyl_sulf_kinase, 1 hit
InterProiView protein in InterPro
IPR002891 APS_kinase
IPR025980 ATP-Sase_PUA-like_dom
IPR027417 P-loop_NTPase
IPR015947 PUA-like_sf
IPR014729 Rossmann-like_a/b/a_fold
IPR024951 Sulfurylase_cat_dom
IPR002650 Sulphate_adenylyltransferase
PfamiView protein in Pfam
PF01747 ATP-sulfurylase, 1 hit
PF14306 PUA_2, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
SSF88697 SSF88697, 1 hit
TIGRFAMsiTIGR00455 apsK, 1 hit
TIGR00339 sopT, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiPAPS2_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: O95340
Secondary accession number(s): Q9BZL2
, Q9P0G6, Q9UHM1, Q9UKD3, Q9UP30
<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: May 30, 2000
Last sequence update: April 16, 2002
Last modified: September 18, 2019
This is version 190 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, 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 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  7. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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