PAPSS2
entrez
9060
canonical
uniprot
O95340
canonical
ensembl
ENSG00000198682
resolver
ensp
ENSP00000354436
resolver
ensp
ENSP00000406157
resolver
genesymbol
PAPSS2
resolver
genesymbol_syn
ATPSK2
resolver
hgnc
HGNC:8604
resolver
uniprot
Q5TB52
resolver
uniprot
Q9BZL2
resolver
uniprot
Q9P0G6
resolver
uniprot
Q9UHM1
resolver
uniprot
Q9UKD3
resolver
uniprot
Q9UP30
resolver
uniprot_entry
PAPS2_HUMAN
resolver
uniprot_entry
Q5TB52_HUMAN
resolver
uniprot_sec
Q9BZL2
resolver
uniprot_sec
Q9P0G6
resolver
uniprot_sec
Q9UHM1
resolver
uniprot_sec
Q9UKD3
resolver
uniprot_sec
Q9UP30
resolver
amino_acid_sequence
MSGIKKQKTENQQKSTNVVYQAHHVSRNKRGQVVGTRGGFRGCTVWLTGLSGAGKTTISFALEEYLVSHAIPCYSLDGDNVRHGLNRNLGFSPGDREENIRRIAEVAKLFADAGLVCITSFISPFAKDRENARKIHESAGLPFFEIFVDAPLNICESRDVKGLYKRARAGEIKGFTGIDSDYEKPETPERVLKTNLSTVSDCVHQVVELLQEQNIVPYTIIKDIHELFVPENKLDHVRAEAETLPSLSITKLDLQWVQVLSEGWATPLKGFMREKEYLQVMHFDTLLDDGVINMSIPIVLPVSAEDKTRLEGCSKFVLAHGGRRVAILRDAEFYEHRKEERCSRVWGTTCTKHPHIKMVMESGDWLVGGDLQVLEKIRWNDGLDQYRLTPLELKQKCKEMNADAVFAFQLRNPVHNGHALLMQDTRRRLLERGYKHPVLLLHPLGGWTKDDDVPLDWRMKQHAAVLEEGVLDPKSTIVAIFPSPMLYAGPTEVQWHCRSRMIAGANFYIVGRDPAGMPHPETKKDLYEPTHGGKVLSMAPGLTSVEIIPFRVAAYNKAKKAMDFYDPARHNEFDFISGTRMRKLAREGENPPDGFMAPKAWKVLTDYYRSLEKN
uniprot
proteins
disease_involvement
DISEASE: Brachyolmia type 4 with mild epiphyseal and metaphyseal changes (BCYM4) [MIM:612847]: A form of brachyolmia, a clinically and genetically heterogeneous skeletal dysplasia primarily affecting the spine and characterized by a short trunk, short stature, and platyspondyly. BCYM4 is an autosomal recessive form with mild epiphyseal and metaphyseal changes. Clinical features include short stature evidenced at birth, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints. Some BCYM4 patients may manifest premature pubarche and hyperandrogenism associated with skeletal dysplasia and short stature. {ECO:0000269|PubMed:19474428, ECO:0000269|PubMed:23633440, ECO:0000269|PubMed:23824674, ECO:0000269|PubMed:25594860, ECO:0000269|PubMed:9714015, ECO:0000269|PubMed:9771708}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.1.25
uniprot
proteins
ec_number
2.7.7.4
uniprot
proteins
function
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, the activated sulfate donor used by sulfotransferases (PubMed:11773860, PubMed:19474428, PubMed:23824674, PubMed:25594860). In mammals, PAPS is the sole source of sulfate while APS appears to only be an intermediate in the sulfate-activation pathway (PubMed:11773860, PubMed:19474428, PubMed:23824674, PubMed:25594860). Plays indirectly an important role in skeletogenesis during postnatal growth (PubMed:9771708). {ECO:0000269|PubMed:11773860, ECO:0000269|PubMed:19474428, ECO:0000269|PubMed:23824674, ECO:0000269|PubMed:25594860, ECO:0000269|PubMed:9771708}.
uniprot
proteins
mass_dalton
69501
uniprot
proteins
pathway_participation
PATHWAY: Sulfur metabolism; sulfate assimilation. {ECO:0000269|PubMed:11773860, ECO:0000269|PubMed:19474428, ECO:0000269|PubMed:23824674, ECO:0000269|PubMed:25594860}.
uniprot
proteins
protein_family
APS kinase family; Sulfate adenylyltransferase family
uniprot
proteins
pubmed
10559207
uniprot
proteins
pubmed
10679223
uniprot
proteins
pubmed
11773860
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19474428
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23633440
uniprot
proteins
pubmed
23824674
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25594860
uniprot
proteins
pubmed
9714015
uniprot
proteins
pubmed
9771708
uniprot
proteins
sequence_length
614
uniprot
proteins