Reactome | PAPSS2 T48R [cytosol]

PAPSS2 T48R [cytosol]

Stable Identifier

R-HSA-3621821

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2, PAPS2_HUMAN

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External Reference Information

External Reference

UniProt:O95340 PAPSS2

Gene Names

PAPSS2, ATPSK2

Chain

chain:1-614

Reference Genes

BioGPS Gene:9060 PAPSS2

COSMIC (genes):PAPSS2 PAPSS2

CTD Gene:9060 PAPSS2

dbSNP Gene:9060 PAPSS2

ENSEMBL:ENSG00000198682 PAPSS2

HGNC:8604 PAPSS2

KEGG:hsa:9060 PAPSS2

Monarch:9060 PAPSS2

NCBI Gene:9060 PAPSS2

OMIM:603005 PAPSS2

UCSC:O95340 PAPSS2

Reference Transcript

Other Identifiers

11727033_at

11727034_at

11750871_a_at

11758346_s_at

16707009

203058_PM_s_at

203058_s_at

203059_PM_s_at

203059_s_at

203060_PM_s_at

203060_s_at

3256594

3256595

3256596

3256615

3256616

3256617

3256618

3256619

3256620

3256621

3256622

3256628

3256632

3256633

3256636

3256638

3256639

3256640

3256656

36233_at

60873_at

60874_g_at

63882_at

7928944

9060

A_14_P121620

A_14_P136795

A_23_P104493

A_24_P940166

GE62211

GO:0000103

GO:0003824

GO:0004020

GO:0004781

GO:0005515

GO:0005524

GO:0005829

GO:0006790

GO:0007596

GO:0009152

GO:0016301

GO:0016740

GO:0016779

GO:0034030

GO:0034033

GO:0042445

GO:0048856

GO:0050428

GO:0055086

GO:0060348

GO:1901135

HMNXSV003014586

Hs.274230.0.S2_3p_a_at

ILMN_2410929

PH_hs_0028067

TC10000621.hg

g4758879_3p_a_at

g5052074_3p_a_at

Participates

as a member of

PAPSS2 mutants [cytosol] (Homo sapiens)

Other forms of this molecule

PAPSS2 S438* [cytosol]

PAPSS2 R329* [cytosol]

PAPSS2 [cytosol]

Modified Residues

Name

L-threonine 48 replaced with L-arginine

Coordinate

PsiMod

L-threonine removal [MOD:01647]

A protein modification that effectively removes or replaces an L-threonine.

L-arginine residue [MOD:00011]

A protein modification that effectively converts a source amino acid residue to an L-arginine.

Disease

Name	Identifier	Synonyms
spondyloepimetaphyseal dysplasia	DOID:0080027

Cross References

ENSEMBL

ENSP00000354436, ENST00000361175, ENST00000456849, ENSP00000406157

OpenTargets

ENSG00000198682

HPA

ENSG00000198682-PAPSS2

PRO

O95340

Pharos - Targets

O95340

GlyGen

O95340

Orphanet

PAPSS2

HMDB Protein

HMDBP00353

PDB

8I1O, 8I1N, 2AX4, 7FH3, 7FHA

Interactors (1)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q96CV9 OPTN	6	p-S177,S473,S513-OPTN [cytosol] (R-HSA-9687840) OPTN [cytosol] (R-HSA-9687907) p-S177-OPTN [cytosol] (R-HSA-2562525) p-S177-OPTN [nucleoplasm] (R-HSA-2562595) OPTN [Golgi membrane] (R-HSA-2161111) OPTN [recycling endosome membrane] (R-HSA-8854141)	0.556	3