Homo sapiens Gene: PAPSS2
Summary
InnateDB Gene IDBG-81304.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PAPSS2
Gene Name 3'-phosphoadenosine 5'-phosphosulfate synthase 2
Synonyms ATPSK2; BCYM4; SK2
Species Homo sapiens
Ensembl Gene ENSG00000198682
Encoded Proteins
3'-phosphoadenosine 5'-phosphosulfate synthase 2
3'-phosphoadenosine 5'-phosphosulfate synthase 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Sulfation is a common modification of endogenous (lipids, proteins, and carbohydrates) and exogenous (xenobiotics and drugs) compounds. In mammals, the sulfate source is 3'-phosphoadenosine 5'-phosphosulfate (PAPS), created from ATP and inorganic sulfate. Two different tissue isoforms encoded by different genes synthesize PAPS. This gene encodes one of the two PAPS synthetases. Defects in this gene cause the Pakistani type of spondyloepimetaphyseal dysplasia. Two alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Sulfation is a common modification of endogenous (lipids, proteins, and carbohydrates) and exogenous (xenobiotics and drugs) compounds. In mammals, the sulfate source is 3\'-phosphoadenosine 5\'-phosphosulfate (PAPS), created from ATP and inorganic sulfate. Two different tissue isoforms encoded by different genes synthesize PAPS. This gene encodes one of the two PAPS synthetases. Defects in this gene cause the Pakistani type of spondyloepimetaphyseal dysplasia. Two alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:87659613-87747705
Strand Forward strand
Band q23.2
Transcripts
ENST00000361175 ENSP00000354436
ENST00000456849 ENSP00000406157
ENST00000465996
ENST00000482258
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
Experimentally validated
Total 13 [view]
Protein-Protein 13 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004020 adenylylsulfate kinase activity
GO:0004781 sulfate adenylyltransferase (ATP) activity
GO:0005524 ATP binding
GO:0016779 nucleotidyltransferase activity
Biological Process
GO:0000103 sulfate assimilation
GO:0001501 skeletal system development
GO:0005975 carbohydrate metabolic process
GO:0006805 xenobiotic metabolic process
GO:0007596 blood coagulation
GO:0016310 phosphorylation
GO:0030203 glycosaminoglycan metabolic process
GO:0044281 small molecule metabolic process
GO:0050427 3'-phosphoadenosine 5'-phosphosulfate metabolic process
GO:0050428 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process
GO:0060348 bone development
Cellular Component
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Transport and synthesis of PAPS pathway
Cytosolic sulfonation of small molecules pathway
Mucopolysaccharidoses pathway
Myoclonic epilepsy of Lafora pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective PAPSS2 causes SEMD-PA pathway
Metabolism of carbohydrates pathway
MPS IIID - Sanfilippo syndrome D pathway
Defective SLC26A2 causes chondrodysplasias pathway
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Defective CHST14 causes EDS, musculocontractural type pathway
MPS IV - Morquio syndrome B pathway
Defective B3GAT3 causes JDSSDHD pathway
Defective CHST3 causes SEDCJD pathway
MPS IV - Morquio syndrome A pathway
Defective EXT2 causes exostoses 2 pathway
Diseases associated with glycosaminoglycan metabolism pathway
Phase II conjugation pathway
MPS II - Hunter syndrome pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
Glycosaminoglycan metabolism pathway
Diseases of glycosylation pathway
MPS VII - Sly syndrome pathway
Defective CHSY1 causes TPBS pathway
Metabolism pathway
Biological oxidations pathway
MPS I - Hurler syndrome pathway
MPS IIIA - Sanfilippo syndrome A pathway
MPS IIIC - Sanfilippo syndrome C pathway
Disease pathway
Glycogen storage diseases pathway
MPS IIIB - Sanfilippo syndrome B pathway
KEGG
Purine metabolism pathway
Selenocompound metabolism pathway
Sulfur metabolism pathway
INOH
Purine nucleotides nucleosides metabolism pathway
PID NCI
Cross-References
SwissProt O95340
TrEMBL
UniProt Splice Variant
Entrez Gene 9060
UniGene Hs.524491 Hs.597863
RefSeq NM_001015880 NM_004670
HUGO HGNC:8604
OMIM 603005
CCDS CCDS44453 CCDS7385
HPRD 04303
IMGT
EMBL AF074331 AF091242 AF150754 AF160503 AF160504 AF160505 AF160506 AF160507 AF160508 AF160509 AF173365 AF313907 BC009894
GenPept AAC64583 AAD38423 AAF12761 AAF20366 AAF40307 AAH09894 AAK00296
RNA Seq Atlas 9060