Homo sapiens Protein: PAPSS2
Summary
InnateDB Protein IDBP-381892.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PAPSS2
Protein Name 3'-phosphoadenosine 5'-phosphosulfate synthase 2
Synonyms ATPSK2; BCYM4; SK2;
Species Homo sapiens
Ensembl Protein ENSP00000406157
InnateDB Gene IDBG-81304 (PAPSS2)
Protein Structure
UniProt Annotation
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. May have a important role in skeletogenesis during postnatal growth (By similarity). {ECO:0000250}.
Subcellular Localization
Disease Associations Spondyloepimetaphyseal dysplasia Pakistani type (SEMD-PA) [MIM:612847]: A bone disease characterized by epiphyseal dysplasia with mild metaphyseal abnormalities. Clinical features include short stature evidenced at birth, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints. Some patients may manifest premature pubarche and hyperandrogenism associated with skeletal dysplasia and short stature. {ECO:0000269PubMed:19474428, ECO:0000269PubMed:9714015}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed in cartilage and adrenal gland. {ECO:0000269PubMed:19474428}.
Comments
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
Protein Structure and Domains
PDB ID
InterPro IPR002650 Sulphate adenylyltransferase
IPR002891 Adenylylsulphate kinase
IPR015947 PUA-like domain
IPR024951 Sulphate adenylyltransferase catalytic domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase
PFAM PF01583
PF01747
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt O95340
PhosphoSite PhosphoSite-O95340
TrEMBL
UniProt Splice Variant
Entrez Gene 9060
UniGene Hs.597863
RefSeq NP_001015880
HUGO HGNC:8604
OMIM 603005
CCDS CCDS44453
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