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.
|
||||||||||||||||||||||
Gene Ontology | |||||||||||||||||||||||
Molecular Function |
|
||||||||||||||||||||||
Biological Process |
|
||||||||||||||||||||||
Cellular Component |
|
||||||||||||||||||||||
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 | ||||||||||||||||||||||