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Aliases for PAPSS1 Gene

Aliases for PAPSS1 Gene

  • 3'-Phosphoadenosine 5'-Phosphosulfate Synthase 1 2 3
  • Sulfate Adenylyltransferase 2 3
  • Adenylyl-Sulfate Kinase 2 3
  • Sulfurylase Kinase 1 3 4
  • PAPS Synthase 1 3 4
  • PAPSS 1 3 4
  • ATPSK1 3 4
  • PAPSS 3 4
  • SK 1 3 4
  • SK1 3 4
  • Bifunctional 3-Phosphoadenosine 5-Phosphosulfate Synthase 1 3
  • 3-Prime-Phosphoadenosine 5-Prime-Phosphosulfate Synthase 1 3
  • 3-Phosphoadenosine 5-Phosphosulfate Synthase 1 5

External Ids for PAPSS1 Gene

Previous GeneCards Identifiers for PAPSS1 Gene

  • GC04M108945
  • GC04M108993
  • GC04M108892
  • GC04M108754
  • GC04M108534
  • GC04M104266

Summaries for PAPSS1 Gene

Entrez Gene Summary for PAPSS1 Gene

  • Three-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS) is the sulfate donor cosubstrate for all sulfotransferase (SULT) enzymes (Xu et al., 2000 [PubMed 10679223]). SULTs catalyze the sulfate conjugation of many endogenous and exogenous compounds, including drugs and other xenobiotics. In humans, PAPS is synthesized from adenosine 5-prime triphosphate (ATP) and inorganic sulfate by 2 isoforms, PAPSS1 and PAPSS2 (MIM 603005).[supplied by OMIM, Mar 2008]

GeneCards Summary for PAPSS1 Gene

PAPSS1 (3'-Phosphoadenosine 5'-Phosphosulfate Synthase 1) is a Protein Coding gene. Diseases associated with PAPSS1 include Chronic Monocytic Leukemia. Among its related pathways are Sulfation Biotransformation Reaction and HIV Life Cycle. Gene Ontology (GO) annotations related to this gene include nucleotidyltransferase activity and sulfate adenylyltransferase (ATP) activity. An important paralog of this gene is PAPSS2.

UniProtKB/Swiss-Prot for PAPSS1 Gene

  • 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 (PubMed:9576487, PubMed:9668121, PubMed:9648242, PubMed:14747722). Required for normal biosynthesis of sulfated L-selectin ligands in endothelial cells (PubMed:9576487).

Gene Wiki entry for PAPSS1 Gene

Additional gene information for PAPSS1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PAPSS1 Gene

Genomics for PAPSS1 Gene

GeneHancer (GH) Regulatory Elements for PAPSS1 Gene

Promoters and enhancers for PAPSS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J107718 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 686.5 +0.2 234 3.5 PKNOX1 SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 E2F8 ZNF207 ZNF143 PAPSS1 GC04P107697
GH04J107692 Enhancer 0.9 Ensembl ENCODE 62.6 +26.9 26942 1.2 HDAC1 ATF1 JUN CEBPG ZBTB40 ZNF766 FOXK2 ETV6 ATF7 SMARCE1 PAPSS1 GC04P107697 LOC105377358
GH04J107739 Enhancer 0.9 Ensembl ENCODE 34.6 -20.5 -20472 2 MEIS2 CTCF PKNOX1 CEBPG RAD21 ZNF335 SCRT2 ZNF600 SCRT1 NFIA PAPSS1 CYP2U1 GC04P107734 GC04P107803
GH04J107823 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 12 -105.6 -105631 5 PKNOX1 FOXA2 SIN3A FEZF1 YY1 ZNF121 GLIS2 ELK1 FOS SP3 SGMS2 PAPSS1 GC04P107803 RNU6-733P
GH04J107709 Enhancer 1 FANTOM5 Ensembl ENCODE 14.8 +10.3 10251 1.2 ZNF316 SOX6 JUN MAFG BCL6 ETV6 MAFK ZNF592 PAPSS1 SGMS2 GC04P107697
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PAPSS1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PAPSS1 Gene

Genomic Locations for PAPSS1 Gene
chr4:107,590,276-107,720,452
(GRCh38/hg38)
Size:
130,177 bases
Orientation:
Minus strand
chr4:108,511,433-108,641,608
(GRCh37/hg19)
Size:
130,176 bases
Orientation:
Minus strand

Genomic View for PAPSS1 Gene

Genes around PAPSS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAPSS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PAPSS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAPSS1 Gene

Proteins for PAPSS1 Gene

  • Protein details for PAPSS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43252-PAPS1_HUMAN
    Recommended name:
    Bifunctional 3-phosphoadenosine 5-phosphosulfate synthase 1
    Protein Accession:
    O43252
    Secondary Accessions:
    • O43841
    • O75332
    • Q6IAX6
    • Q96FB1
    • Q96TF4
    • Q9P1P9
    • Q9UE98

    Protein attributes for PAPSS1 Gene

    Size:
    624 amino acids
    Molecular mass:
    70833 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for PAPSS1 Gene

neXtProt entry for PAPSS1 Gene

Post-translational modifications for PAPSS1 Gene

  • Ubiquitination at isoforms=619 and isoforms=183
  • Modification sites at PhosphoSitePlus

Other Protein References for PAPSS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PAPSS1 Gene

Domains & Families for PAPSS1 Gene

Gene Families for PAPSS1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

O43252

UniProtKB/Swiss-Prot:

PAPS1_HUMAN :
  • The N-terminal first 50 residues are required for inhibition by the substrate adenylyl sulfate.
  • In the N-terminal section; belongs to the APS kinase family.
Domain:
  • The N-terminal first 50 residues are required for inhibition by the substrate adenylyl sulfate.
Family:
  • In the N-terminal section; belongs to the APS kinase family.
  • In the C-terminal section; belongs to the sulfate adenylyltransferase family.
genes like me logo Genes that share domains with PAPSS1: view

Function for PAPSS1 Gene

Molecular function for PAPSS1 Gene

UniProtKB/Swiss-Prot Function:
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 (PubMed:9576487, PubMed:9668121, PubMed:9648242, PubMed:14747722). Required for normal biosynthesis of sulfated L-selectin ligands in endothelial cells (PubMed:9576487).
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + sulfate = diphosphate + adenylyl sulfate.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + adenylyl sulfate = ADP + 3-phosphoadenylyl sulfate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by chlorate (PubMed:9576487). The kinase activity is subject to inhibition by the substrate adenylyl sulfate (PubMed:17540769).
GENATLAS Biochemistry:
3-phosphoadenosine 5 phosphosulfate synthase 1,member of sulfate activating enzyme family

Gene Ontology (GO) - Molecular Function for PAPSS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003824 catalytic activity IEA --
GO:0004020 adenylylsulfate kinase activity TAS --
GO:0004781 sulfate adenylyltransferase (ATP) activity TAS --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with PAPSS1: view
genes like me logo Genes that share phenotypes with PAPSS1: view

Animal Model Products

miRNA for PAPSS1 Gene

miRTarBase miRNAs that target PAPSS1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PAPSS1 Gene

Localization for PAPSS1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PAPSS1 gene
Compartment Confidence
cytosol 5
nucleus 3
plasma membrane 2
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PAPSS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PAPSS1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PAPSS1 Gene

Pathways & Interactions for PAPSS1 Gene

genes like me logo Genes that share pathways with PAPSS1: view

UniProtKB/Swiss-Prot O43252-PAPS1_HUMAN

  • Pathway: Sulfur metabolism; sulfate assimilation.

Gene Ontology (GO) - Biological Process for PAPSS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000103 sulfate assimilation IEA --
GO:0001501 skeletal system development TAS 9771708
GO:0008152 metabolic process IEA --
GO:0016310 phosphorylation IEA --
GO:0050428 3-phosphoadenosine 5-phosphosulfate biosynthetic process TAS --
genes like me logo Genes that share ontologies with PAPSS1: view

No data available for SIGNOR curated interactions for PAPSS1 Gene

Drugs & Compounds for PAPSS1 Gene

(5) Drugs for PAPSS1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycerol Approved, Investigational Pharma Target 175
Phosphoric acid Approved Pharma 0
Adenosine phosphosulfate Experimental, Investigational Pharma Target 0
Adenosine-5'-Diphosphate-2',3'-Vanadate Experimental Pharma Target 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0

(9) Additional Compounds for PAPSS1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Sulfate
  • [S(OH)2O2]
  • [SO2(OH)2]
  • Acide sulfurique
  • acido Sulfurico
  • Acidum sulfuricum
14808-79-8
3-Phosphoadenylylselenate
  • 3'-Phosphoadenosine-5'-phosphoselanate
  • 3'-Phosphoadenosine-5'-phosphoselenate
  • 3'-Phosphoadenylylselenate
  • 3'-Phosphoadenosine-5'-phosphoselanic acid
  • 3-Phosphoadenylylselenic acid
Adenylylselenate
  • Adenosine-5'-phosphoselenate
  • Adenosine-5'-phosphoselenic acid
  • Adenylylselenic acid
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
Phosphoadenosine phosphosulfate
  • 3'-Phosphoadenosine 5'-phosphosulfate
  • 3'-Phosphoadenylyl sulfate
  • PAPS
  • 3'-Phosphoadenosine 5'-phosphosulfuric acid
  • 3'-Phosphoadenosine 5'-phosphosulphate
482-67-7
genes like me logo Genes that share compounds with PAPSS1: view

Transcripts for PAPSS1 Gene

mRNA/cDNA for PAPSS1 Gene

Unigene Clusters for PAPSS1 Gene

3-phosphoadenosine 5-phosphosulfate synthase 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PAPSS1 Gene

No ASD Table

Relevant External Links for PAPSS1 Gene

GeneLoc Exon Structure for
PAPSS1
ECgene alternative splicing isoforms for
PAPSS1

Expression for PAPSS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PAPSS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PAPSS1 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (10.2), Lavage (6.3), and Peripheral blood mononuclear cells (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PAPSS1 Gene



Protein tissue co-expression partners for PAPSS1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PAPSS1 Gene:

PAPSS1

SOURCE GeneReport for Unigene cluster for PAPSS1 Gene:

Hs.368610

mRNA Expression by UniProt/SwissProt for PAPSS1 Gene:

O43252-PAPS1_HUMAN
Tissue specificity: Expressed in testis, pancreas, kidney, thymus, prostate, ovary, small intestine, colon, leukocytes and liver. Also expressed in high endothelial venules (HEV) cells and in cartilage.

Evidence on tissue expression from TISSUES for PAPSS1 Gene

  • Nervous system(5)
  • Eye(4.3)
  • Kidney(2.3)
  • Heart(2.2)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with PAPSS1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PAPSS1 Gene

Orthologs for PAPSS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PAPSS1 Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia PAPSS1 34
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PAPSS1 34
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PAPSS1 34 33
  • 94.79 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PAPSS1 34 33
  • 93.54 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PAPSS1 34 33
  • 91.88 (n)
OneToMany
-- 34
  • 77 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Papss1 16 34 33
  • 87.98 (n)
rat
(Rattus norvegicus)
Mammalia Papss1 33
  • 86.75 (n)
chicken
(Gallus gallus)
Aves PAPSS1 34 33
  • 81.89 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PAPSS1 34
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia papss1 33
  • 80.13 (n)
zebrafish
(Danio rerio)
Actinopterygii papss1 34 33
  • 75.05 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Paps 35
  • 62 (a)
Papss 34 33
  • 61.29 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001256 33
  • 59.43 (n)
worm
(Caenorhabditis elegans)
Secernentea T14G10.1 35
  • 57 (a)
pps-1 34
  • 55 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B13321g 33
  • 55.84 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MET14 36 34 33
  • 54.86 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.12846 33
soybean
(Glycine max)
eudicotyledons Gma.2313 33
barley
(Hordeum vulgare)
Liliopsida Hv.12870 33
wheat
(Triticum aestivum)
Liliopsida Ta.9352 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9328 34
  • 67 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU09896 33
  • 57.19 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes met14 33
  • 56.4 (n)
Species where no ortholog for PAPSS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for PAPSS1 Gene

ENSEMBL:
Gene Tree for PAPSS1 (if available)
TreeFam:
Gene Tree for PAPSS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PAPSS1: view image

Paralogs for PAPSS1 Gene

Paralogs for PAPSS1 Gene

(1) SIMAP similar genes for PAPSS1 Gene using alignment to 5 proteins:

  • PAPS1_HUMAN
  • Q05BW9_HUMAN
  • Q4W5F0_HUMAN
  • Q4W5H3_HUMAN
  • Q6IAX6_HUMAN
genes like me logo Genes that share paralogs with PAPSS1: view

Variants for PAPSS1 Gene

Sequence variations from dbSNP and Humsavar for PAPSS1 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000007506 -- 107,711,134(-) G/C intron_variant
rs1000016999 -- 107,640,898(-) T/A intron_variant
rs1000044883 -- 107,624,279(-) G/A intron_variant
rs1000047757 -- 107,666,484(-) A/G intron_variant
rs1000079861 -- 107,695,247(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PAPSS1 Gene

Variant ID Type Subtype PubMed ID
esv3433393 CNV insertion 20981092
esv3601709 CNV gain 21293372
esv3601710 CNV gain 21293372
esv3601711 CNV gain 21293372
nsv4456 CNV deletion 18451855
nsv528356 CNV loss 19592680
nsv830030 CNV loss 17160897

Variation tolerance for PAPSS1 Gene

Residual Variation Intolerance Score: 25.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.41; 42.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PAPSS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PAPSS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAPSS1 Gene

Disorders for PAPSS1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PAPSS1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
chronic monocytic leukemia
  • leukemia, myeloid
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PAPSS1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PAPSS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PAPSS1 Gene

Publications for PAPSS1 Gene

  1. Human 3'-phosphoadenosine 5'-phosphosulfate synthetase 1 (PAPSS1) and PAPSS2: gene cloning, characterization and chromosomal localization. (PMID: 10679223) Xu ZH … Weinshilboum RM (Biochemical and biophysical research communications 2000) 3 4 22 58
  2. Sulfation in high endothelial venules: cloning and expression of the human PAPS synthetase. (PMID: 9576487) Girard JP … Amalric F (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 1998) 2 3 4 58
  3. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PMID: 20332099) Kalsi G … Riley BP (Human molecular genetics 2010) 3 44 58
  4. Evidence for association with hepatocellular carcinoma at the PAPSS1 locus on chromosome 4q25 in a family-based study. (PMID: 19337310) Shih WL … Liaw YF (European journal of human genetics : EJHG 2009) 3 44 58
  5. Structural mechanism for substrate inhibition of the adenosine 5'-phosphosulfate kinase domain of human 3'-phosphoadenosine 5'-phosphosulfate synthetase 1 and its ramifications for enzyme regulation. (PMID: 17540769) Sekulic N … Lavie A (The Journal of biological chemistry 2007) 3 4 58

Products for PAPSS1 Gene

Sources for PAPSS1 Gene

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