Human Gene PAPSS1 (uc003hyk.3)
  Description: Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 1 (PAPSS1), mRNA.
RefSeq Summary (NM_005443): 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].
Transcript (Including UTRs)
   Position: hg19 chr4:108,534,822-108,641,419 Size: 106,598 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr4:108,535,405-108,641,335 Size: 105,931 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:108,534,822-108,641,419)mRNA (may differ from genome)Protein (624 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSCGAPEnsemblEntrez GeneExonPrimer
GeneCardsGeneNetworkH-INVHGNCHPRDLynx
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: PAPS1_HUMAN
DESCRIPTION: RecName: Full=Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1; Short=PAPS synthase 1; Short=PAPSS 1; AltName: Full=Sulfurylase kinase 1; Short=SK 1; Short=SK1; Includes: RecName: Full=Sulfate adenylyltransferase; EC=2.7.7.4; AltName: Full=ATP-sulfurylase; AltName: Full=Sulfate adenylate transferase; Short=SAT; Includes: RecName: Full=Adenylyl-sulfate kinase; EC=2.7.1.25; AltName: Full=3'-phosphoadenosine-5'-phosphosulfate synthase; AltName: Full=APS kinase; AltName: Full=Adenosine-5'-phosphosulfate 3'-phosphotransferase; AltName: Full=Adenylylsulfate 3'-phosphotransferase;
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. Also involved in the biosynthesis of sulfated L-selectin ligands in endothelial cells.
CATALYTIC ACTIVITY: ATP + sulfate = diphosphate + adenylyl sulfate.
CATALYTIC ACTIVITY: ATP + adenylyl sulfate = ADP + 3'- phosphoadenylyl sulfate.
ENZYME REGULATION: Inhibited by chlorate.
PATHWAY: Sulfur metabolism; sulfate assimilation.
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.
SIMILARITY: In the N-terminal section; belongs to the APS kinase family.
SIMILARITY: In the C-terminal section; belongs to the sulfate adenylyltransferase family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PAPSS1
CDC HuGE Published Literature: PAPSS1
Positive Disease Associations: Coronary Artery Disease , Coronary Disease , Stroke
Related Studies:
  1. Coronary Artery Disease
    , , . [PubMed 0]
  2. Coronary Disease
    , , . [PubMed 0]
  3. Coronary Disease
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: PAPSS1
Diseases sorted by gene-association score: chronic monocytic leukemia (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 50.03 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 868.34 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -31.5084-0.375 Picture PostScript Text
3' UTR -105.29583-0.181 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002891 - APS_kinase
IPR025980 - ATP-Sase_PUA-like_dom
IPR015947 - PUA-like_domain
IPR014729 - Rossmann-like_a/b/a_fold
IPR024951 - Sulfurylase_cat_dom
IPR002650 - Sulphate_adenylyltransferase

Pfam Domains:
PF01583 - Adenylylsulphate kinase
PF01747 - ATP-sulfurylase
PF13671 - AAA domain
PF14306 - PUA-like domain

SCOP Domains:
88697 - PUA domain-like
52374 - Nucleotidylyl transferase
52540 - P-loop containing nucleoside triphosphate hydrolases
53795 - PEP carboxykinase-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1X6V - X-ray MuPIT 1XJQ - X-ray MuPIT 1XNJ - X-ray MuPIT 2OFW - X-ray MuPIT 2OFX - X-ray MuPIT 2PEY - X-ray MuPIT 2PEZ - X-ray MuPIT 2QJF - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O43252
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologGenome Browser
Gene Details    Gene Details
Gene Sorter    Gene Sorter
  Ensembl  SGD
  Protein Sequence  Protein Sequence
  Alignment  Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003824 catalytic activity
GO:0004020 adenylylsulfate kinase activity
GO:0004781 sulfate adenylyltransferase (ATP) activity
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0016779 nucleotidyltransferase activity
GO:0042803 protein homodimerization activity

Biological Process:
GO:0000103 sulfate assimilation
GO:0001501 skeletal system development
GO:0008152 metabolic process
GO:0016310 phosphorylation
GO:0050428 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process

Cellular Component:
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  BC011392 - Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 1, mRNA (cDNA clone MGC:9898 IMAGE:3869484), complete cds.
BC040940 - Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 1, mRNA (cDNA clone IMAGE:5770498).
Y10387 - H.sapiens mRNA for PAPS synthetase.
AF105227 - Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthetase (PAPSS) mRNA, complete cds.
BC050627 - Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 1, mRNA (cDNA clone MGC:60101 IMAGE:5556165), complete cds.
AF033026 - Homo sapiens bifunctional ATP sulfurylase/adenosine 5'-phosphosulfate kinase mRNA, complete cds.
AK292774 - Homo sapiens cDNA FLJ76465 complete cds, highly similar to Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 1 (PAPSS1), mRNA.
DQ891043 - Synthetic construct clone IMAGE:100003673; FLH168777.01X; RZPDo839D0194D 3'-phosphoadenosine 5'-phosphosulfate synthase 1 (PAPSS1) gene, encodes complete protein.
AF016496 - Homo sapiens ATP sulfurylase/APS kinase mRNA, complete cds.
KJ904617 - Synthetic construct Homo sapiens clone ccsbBroadEn_14011 PAPSS1 gene, encodes complete protein.
KJ905367 - Synthetic construct Homo sapiens clone ccsbBroadEn_14925 PAPSS1 gene, encodes complete protein.
CR457028 - Homo sapiens full open reading frame cDNA clone RZPDo834C0121D for gene PAPSS1, 3'-phosphoadenosine 5'-phosphosulfate synthase 1; complete cds, incl. stopcodon.
KJ897958 - Synthetic construct Homo sapiens clone ccsbBroadEn_07352 PAPSS1 gene, encodes complete protein.
DQ894222 - Synthetic construct Homo sapiens clone IMAGE:100008682; FLH168773.01L; RZPDo839D0193D 3'-phosphoadenosine 5'-phosphosulfate synthase 1 (PAPSS1) gene, encodes complete protein.
BC032513 - Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 1, mRNA (cDNA clone IMAGE:5492659), partial cds.
AK297981 - Homo sapiens cDNA FLJ57543 complete cds, highly similar to Bifunctional 3'-phosphoadenosine5'-phosphosulfate synthetase 1.
E09951 - cDNA encoding part of human adenosine 5'-phosphosulfate kinase.
CU690750 - Synthetic construct Homo sapiens gateway clone IMAGE:100021432 5' read PAPSS1 mRNA.
JD479903 - Sequence 460927 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00230 - Purine metabolism
hsa00450 - Selenoamino acid metabolism
hsa00920 - Sulfur metabolism
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY-5340 - sulfate activation for sulfonation
PWY3DJ-35888 - sulfur metabolism

Reactome (by CSHL, EBI, and GO)

Protein O43252 (Reactome details) participates in the following event(s):

R-HSA-174389 PAPSS1,2 transfer PO4(2-) group from ATP to APS to form PAPS
R-HSA-174392 PAPSS1,2 transfer SO4(2-) group to ATP to form APS
R-HSA-2408525 H2SeO4 is converted to APSe by PAPSS1,2
R-HSA-2408540 APSe is phosphorylated to PAPSe by PAPSS1,2
R-HSA-6802927 BRAF and RAF fusion mutant dimers are phosphorylated
R-HSA-6802934 p-BRAF and RAF fusion dimers bind MAP2Ks and MAPKs
R-HSA-6802932 Dissociation of BRAF/RAF fusion complex
R-HSA-6802933 p-BRAF and RAF fusion dimers phosphorylate MAP2Ks
R-HSA-6802935 MAPKs are phosphorylated downstream of BRAF and RAF fusion dimers
R-HSA-174362 Transport and synthesis of PAPS
R-HSA-2408550 Metabolism of ingested H2SeO4 and H2SeO3 into H2Se
R-HSA-6802952 Signaling by BRAF and RAF fusions
R-HSA-156584 Cytosolic sulfonation of small molecules
R-HSA-1630316 Glycosaminoglycan metabolism
R-HSA-2408522 Selenoamino acid metabolism
R-HSA-6802957 Oncogenic MAPK signaling
R-HSA-156580 Phase II - Conjugation of compounds
R-HSA-71387 Metabolism of carbohydrates
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-5663202 Diseases of signal transduction
R-HSA-211859 Biological oxidations
R-HSA-1430728 Metabolism
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: ATPSK1, NM_005443, NP_005434, O43252, O43841, O75332, PAPS1_HUMAN, PAPSS, Q96FB1, Q96TF4, Q9P1P9, Q9UE98
UCSC ID: uc003hyk.3
RefSeq Accession: NM_005443
Protein: O43252 (aka PAPS1_HUMAN or PPS1_HUMAN)
CCDS: CCDS3676.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_005443.4
exon count: 12CDS single in 3' UTR: no RNA size: 2558
ORF size: 1875CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3950.00frame shift in genome: no % Coverage: 99.37
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.