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PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 [ Homo sapiens (human) ]

Gene ID: 9060, updated on 27-Nov-2024

Summary

Official Symbol
PAPSS2provided by HGNC
Official Full Name
3'-phosphoadenosine 5'-phosphosulfate synthase 2provided by HGNC
Primary source
HGNC:HGNC:8604
See related
Ensembl:ENSG00000198682 MIM:603005; AllianceGenome:HGNC:8604
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SK2; BCYM4; ATPSK2
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]
Expression
Broad expression in adrenal (RPKM 79.2), lung (RPKM 47.5) and 18 other tissues See more
Orthologs
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Genomic context

See PAPSS2 in Genome Data Viewer
Location:
10q23.2-q23.31
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (87659878..87747705)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (88543727..88631613)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (89419635..89507462)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378412 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3710 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:89386301-89387109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3711 Neighboring gene NANOG hESC enhancer GRCh37_chr10:89398621-89399136 Neighboring gene NANOG hESC enhancer GRCh37_chr10:89399137-89399651 Neighboring gene ribosomal protein S26 pseudogene 38 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2583 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:89503239-89503738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3712 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:89526475-89526686 Neighboring gene uncharacterized LOC124902476 Neighboring gene ATPase family AAA domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2584 Neighboring gene cofilin 1 pseudogene 1 Neighboring gene RNA, 7SL, cytoplasmic 78, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Spondyloepimetaphyseal dysplasia, PAPSS2 type
MedGen: C2748515 OMIM: 612847 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of exercise behavior in Dutch and American adults.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables adenylylsulfate kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables adenylylsulfate kinase activity IC
Inferred by Curator
more info
PubMed 
enables adenylylsulfate kinase activity TAS
Traceable Author Statement
more info
 
enables nucleotidyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables sulfate adenylyltransferase (ATP) activity IC
Inferred by Curator
more info
PubMed 
enables sulfate adenylyltransferase (ATP) activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables sulfate adenylyltransferase (ATP) activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
involved_in 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process TAS
Traceable Author Statement
more info
 
involved_in blood coagulation IEA
Inferred from Electronic Annotation
more info
 
involved_in bone development IEA
Inferred from Electronic Annotation
more info
 
involved_in hormone metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in sulfate assimilation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in sulfate assimilation IEA
Inferred from Electronic Annotation
more info
 
involved_in sulfate assimilation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2
Names
3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2
ATP sulfurylase/APS kinase 2
ATP sulfurylase/adenosine 5'-phosphosulfate kinase
PAPS synthase 2
PAPS synthetase 2
SK 2
adenosine 5'-phosphosulfate kinase
adenylyl-sulfate kinase
bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthethase 2
epididymis secretory sperm binding protein
sulfate adenylyltransferase
NP_001015880.1
NP_004661.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012150.1 RefSeqGene

    Range
    5160..92987
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001015880.2NP_001015880.1  bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 isoform b

    See identical proteins and their annotated locations for NP_001015880.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an alternate in-frame segment, compared to variant 1, resulting in a longer protein (isoform 2), compared to isoform 1. Isoform 2 has also been named PAPS synthase 2b.
    Source sequence(s)
    AF150754, BC009894, BQ221395, BQ772647, BQ888954, CB960618
    Consensus CDS
    CCDS44453.1
    UniProtKB/TrEMBL
    B4DWB5
    Related
    ENSP00000406157.1, ENST00000456849.2
    Conserved Domains (2) summary
    cd00517
    Location:244612
    ATPS; ATP-sulfurylase
    cd02027
    Location:44194
    APSK; Adenosine 5'-phosphosulfate kinase (APSK) catalyzes the phosphorylation of adenosine 5'-phosphosulfate to form 3'-phosphoadenosine 5'-phosphosulfate (PAPS). The end-product PAPS is a biologically "activated" sulfate form important for the assimilation of ...
  2. NM_004670.4NP_004661.2  bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 isoform a

    See identical proteins and their annotated locations for NP_004661.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the more frequently occurring transcript. It encodes isoform a, which has also been named PAPS synthase 2a.
    Source sequence(s)
    BC009894, BQ772647, BQ888954
    Consensus CDS
    CCDS7385.1
    UniProtKB/Swiss-Prot
    O95340, Q9BZL2, Q9P0G6, Q9UHM1, Q9UKD3, Q9UP30
    UniProtKB/TrEMBL
    B4DWB5, Q5TB52
    Related
    ENSP00000354436.4, ENST00000361175.8
    Conserved Domains (2) summary
    cd00517
    Location:244607
    ATPS; ATP-sulfurylase
    cd02027
    Location:44194
    APSK; Adenosine 5'-phosphosulfate kinase (APSK) catalyzes the phosphorylation of adenosine 5'-phosphosulfate to form 3'-phosphoadenosine 5'-phosphosulfate (PAPS). The end-product PAPS is a biologically "activated" sulfate form important for the assimilation of ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    87659878..87747705
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    88543727..88631613
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)