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 su... See more...

Aliases for PAPSS1 Gene

Aliases for PAPSS1 Gene

  • 3'-Phosphoadenosine 5'-Phosphosulfate Synthase 1 2 3 5
  • ATPSK1 2 3 4
  • PAPSS 2 3 4
  • Bifunctional 3'-Phosphoadenosine 5'-Phosphosulfate Synthase 1 3 4
  • Sulfate Adenylyltransferase 2 3
  • Adenylyl-Sulfate Kinase 2 3
  • Sulfurylase Kinase 1 3 4
  • PAPS Synthase 1 3 4
  • PAPSS 1 3 4
  • SK 1 3 4
  • SK1 3 4
  • 3-Prime-Phosphoadenosine 5-Prime-Phosphosulfate Synthase 1 3
  • EC 2.7.1.25 50
  • PAPSS1 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 Spondyloepimetaphyseal Dysplasia and Achondrogenesis, Type Ib. Among its related pathways are Viral mRNA Translation and Sulfation Biotransformation Reaction. 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 Summary 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

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PAPSS1 Gene

Genomics for PAPSS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

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 CraniofacialAtlas 287.2 +0.5 534 5 ZNF207 ZNF600 MYC ZNF580 ZNF10 POLR2A YY1 MXD4 CTCF CEBPB PAPSS1 HSALNG0036255 lnc-SGMS2-5 piR-49098-002 DKK2
GH04J107692 Enhancer 0.9 Ensembl ENCODE 62.6 +26.5 26533 3 IKZF1 MYC ZNF592 ELF1 ATF1 ZNF318 SPI1 RAD51 EP400 ATF4 PAPSS1 piR-49098-002 HSALNG0036255 DKK2
GH04J107739 Enhancer 0.8 ENCODE CraniofacialAtlas 34.7 -20.7 -20690 2 ZNF600 CEBPA CTCF SCRT1 ATF4 ZNF518A GLIS1 CEBPG MEIS2 NFIA PAPSS1 HSALNG0036257 piR-46381-059 SGMS2
GH04J107823 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12 -105.8 -105849 5 ZNF600 JUND ATF2 ATF3 YY1 CEBPB FEZF1 ZNF639 ZNF341 MAX HSALNG0036263 SGMS2 lnc-PAPSS1-2 lnc-SGMS2-3 PAPSS1 RF00026-785 RNU6-733P CYP2U1
GH04J107689 Enhancer 0.7 Ensembl ENCODE 24.3 +29.7 29733 1.8 JUND CTBP1 RBM22 ZFP37 DPF2 BHLHE40 POLR2A HLF ATF3 FOS PAPSS1 piR-49098-002 HSALNG0036255 DKK2
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PAPSS1

Genomic Locations for PAPSS1 Gene

Latest Assembly
chr4:107,590,276-107,720,234
(GRCh38/hg38)
Size:
129,959 bases
Orientation:
Minus strand

Previous Assembly
chr4:108,534,822-108,641,390
(GRCh37/hg19 by Entrez Gene)
Size:
106,569 bases
Orientation:
Minus strand

chr4:108,511,433-108,641,608
(GRCh37/hg19 by Ensembl)
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

Selected DME Specific Peptides for PAPSS1 Gene

O43252:
  • TGLSGAGK
  • KGLYKKA

Post-translational modifications for PAPSS1 Gene

  • Ubiquitination at Lys183, Lys619, and Lys623
  • Modification sites at PhosphoSitePlus

Other Protein References for PAPSS1 Gene

Domains & Families for PAPSS1 Gene

Gene Families for PAPSS1 Gene

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

Protein Domains for PAPSS1 Gene

Suggested Antigen Peptide Sequences for PAPSS1 Gene

GenScript: Design optimal peptide antigens:
  • Sulfurylase kinase 1 (PAPS1_HUMAN)
  • PAPSS1 protein (Q05BW9_HUMAN)
  • cDNA FLJ76465, highly similar to Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 1 (PAPSS1), mRNA (Q6IAX6_HUMAN)

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:
Reaction=ATP + H(+) + sulfate = adenosine 5'-phosphosulfate + diphosphate; Xref=Rhea:RHEA:18133, ChEBI:CHEBI:15378, ChEBI:CHEBI:16189, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:58243; EC=2.7.7.4; Evidence={ECO:0000269|PubMed:14747722, ECO:0000269|PubMed:9576487, ECO:0000269|PubMed:9648242, ECO:0000269|PubMed:9668121};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=adenosine 5'-phosphosulfate + ATP = 3'-phosphoadenylyl sulfate + ADP + H(+); Xref=Rhea:RHEA:24152, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:58243, ChEBI:CHEBI:58339, ChEBI:CHEBI:456216; EC=2.7.1.25; Evidence={ECO:0000269|PubMed:14747722, ECO:0000269|PubMed:17276460, ECO:0000269|PubMed:17540769, ECO:0000269|PubMed:9576487, ECO:0000269|PubMed:9648242, ECO:0000269|PubMed:9668121};.
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

Enzyme Numbers (IUBMB) for PAPSS1 Gene

Phenotypes From GWAS Catalog for PAPSS1 Gene

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 IBA,IDA 14747722
GO:0004781 sulfate adenylyltransferase (ATP) activity ISS --
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

miRNA for PAPSS1 Gene

miRTarBase miRNAs that target PAPSS1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PAPSS1

No data available for 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
golgi apparatus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitotic chromosome (2)
  • Nucleoli rim (2)
  • Nucleoplasm (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 IBA,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

(7) 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 207
Adenosine phosphosulfate Experimental, Investigational Pharma Target 0
Sulfate Experimental, Investigational Pharma 0
Adenosine-5'-diphosphate-2',3'-vanadate Experimental Pharma Target 0
3'-phospho-5'-adenylyl sulfate Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Phosphoadenylylselenate
  • 3'-Phosphoadenosine-5'-phosphoselanate
  • 3'-Phosphoadenosine-5'-phosphoselenate
  • 3'-Phosphoadenylylselenate
  • 3'-Phosphoadenosine-5'-phosphoselanic acid
  • 3'-Phosphoadenosine-5'-phosphoselenic acid
Adenylylselenate
  • Adenosine-5'-phosphoselenate
  • Adenosine-5'-phosphoselenic acid
  • Adenylylselenic acid
  • APSe
  • Adenosine 5'-phosphoselenate
90120-86-8
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8
Selenocystathionine
  • L,L-Selenocystathionine
  • (2S)-2-Amino-4-[[(2R)-2-amino-2-carboxyethyl]seleno]butanoic acid
  • 2-Amino-4-[(2-amino-2-carboxyethyl)seleno]butanoic acid
  • L-Selenocystathionine
  • Selenocystathionine
23809-95-2
genes like me logo Genes that share compounds with PAPSS1: view

Transcripts for PAPSS1 Gene

mRNA/cDNA for PAPSS1 Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PAPSS1

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

No ASD Table

Relevant External Links for PAPSS1 Gene

GeneLoc Exon Structure for
PAPSS1

Expression for PAPSS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.9)
  • Eye(4.3)
  • Adrenal gland(2.3)
  • Skin(2.3)
  • Liver(2.1)
  • Kidney(2.1)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with PAPSS1: view

Primer products for research

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 30
  • 96 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PAPSS1 30
  • 96 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia PAPSS1 29 30
  • 94.79 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PAPSS1 29 30
  • 93.54 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PAPSS1 29 30
  • 91.88 (n)
OneToMany
-- 30
  • 77 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Papss1 29 16 30
  • 87.98 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Papss1 29
  • 86.75 (n)
Chicken
(Gallus gallus)
Aves PAPSS1 29 30
  • 81.89 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PAPSS1 30
  • 96 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia papss1 29
  • 80.13 (n)
Zebrafish
(Danio rerio)
Actinopterygii papss1 29 30
  • 75.05 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Paps 31
  • 62 (a)
Papss 29 30
  • 61.29 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001256 29
  • 59.43 (n)
Worm
(Caenorhabditis elegans)
Secernentea T14G10.1 31
  • 57 (a)
pps-1 30
  • 55 (a)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B13321g 29
  • 55.84 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MET14 29 30 32
  • 54.86 (n)
OneToMany
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.12846 29
Soybean
(Glycine max)
eudicotyledons Gma.2313 29
Barley
(Hordeum vulgare)
Liliopsida Hv.12870 29
Wheat
(Triticum aestivum)
Liliopsida Ta.9352 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9328 30
  • 67 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU09896 29
  • 57.19 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes met14 29
  • 56.4 (n)
Species where no ortholog for PAPSS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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
Alliance of Genome Resources:
Additional Orthologs for PAPSS1

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PAPSS1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs1127008 -- p.Leu270Phe
rs1127014 -- p.Ser587Leu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PAPSS1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
PAPSS1

SNP Genotyping and Copy Number Assays for research

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

Disorders for PAPSS1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PAPSS1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
spondyloepimetaphyseal dysplasia
  • dysplasia, spondyloepimetaphyseal
achondrogenesis, type ib
  • acg1b
frontometaphyseal dysplasia
  • fmd
large congenital melanocytic nevus
  • congenital pigmented nevus
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PAPSS1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  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
  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 40
  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 40
  5. Elucidation of the active conformation of the APS-kinase domain of human PAPS synthetase 1. (PMID: 17276460) Sekulic N … Lavie A (Journal of molecular biology 2007) 4 22

Products for PAPSS1 Gene

Sources for PAPSS1 Gene