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

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: mouse all
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Genomic context

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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Bone Phenotype is Always Present But Androgen Excess is Less Frequently Seen in PAPSS2 Deficiency.
Title: Bone Phenotype is Always Present But Androgen Excess is Less Frequently Seen in PAPSS2 Deficiency.
Redox switching mechanism of the adenosine 5'-phosphosulfate kinase domain (APSK2) of human PAPS synthase 2.
Title: Redox switching mechanism of the adenosine 5'-phosphosulfate kinase domain (APSK2) of human PAPS synthase 2.
Identification of variants in ACAN and PAPSS2 leading to spondyloepi(meta)physeal dysplasias in four Chinese families.
Title: Identification of variants in ACAN and PAPSS2 leading to spondyloepi(meta)physeal dysplasias in four Chinese families.
Structural basis for the substrate recognition mechanism of ATP-sulfurylase domain of human PAPS synthase 2.
Title: Structural basis for the substrate recognition mechanism of ATP-sulfurylase domain of human PAPS synthase 2.
Intestinal Sulfation Is Essential to Protect Against Colitis and Colonic Carcinogenesis.
Title: Intestinal Sulfation Is Essential to Protect Against Colitis and Colonic Carcinogenesis.
In all patients, exome and Sanger sequencing identified homozygous or compound heterozygous PAPSS2 variants, including c.809G>A, common to white European patients.
Title: PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.
Depletion of PAPSS2 in MCF7 and MDA-MB-231 cells results in reduced cell migration, while overexpression of PAPSS2 promotes cell migration.
Title: Enhanced PAPSS2/VCAN sulfation axis is essential for Snail-mediated breast cancer cell migration and metastasis.
Energy-dependent scoring of docking solutions identified the interaction as specific for the PAPSS2 and SULT2A1 isoforms
Title: Human DHEA sulfation requires direct interaction between PAPS synthase 2 and DHEA sulfotransferase SULT2A1.
In an Amish population, using expression profiling of genes within regions identified by a meta-analysis GWAS of survival to age 90, we localized PAPSS2 as a candidate gene for extended life span. These results provide novel evidence for genetic loci implicated in longevity and incorporate gene expression results from a unique population to locate positional candidates.
Title: Gene Expression Differences Between Offspring of Long-Lived Individuals and Controls in Candidate Longevity Regions: Evidence for PAPSS2 as a Longevity Gene.
Silencing of SULT1A1 and PAPSS2 led to a significant decrease in aristolactam-DNA levels in both cell lines following exposure to AA-I, indicating the critical role for sulfonation in the activation of AA-I in vivo Since HK-2 cells proved relatively resistant to knockdown with siRNAs
Title: Sulfotransferase-1A1-dependent bioactivation of aristolochic acid I and N-hydroxyaristolactam I in human cells.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G20816 (e-PCR)
- UniSTS:39745

A006H32 (e-PCR)
- UniSTS:39746

D10S579 (e-PCR), detects polymorphism
- UniSTS:32353

D10S215 (e-PCR)
- UniSTS:73335

STS-W46759 (e-PCR)
- UniSTS:67461

WI-18019 (e-PCR)
- UniSTS:77718

D10S215 (e-PCR)
- UniSTS:84897

SHGC-84743 (e-PCR)
- UniSTS:104135

SHGC-142887 (e-PCR)
- UniSTS:171725

RH15684 (e-PCR)
- UniSTS:3557

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

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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

EC 2.7.1.25

EC 2.7.7.4

NP_004661.2

EC 2.7.1.25

EC 2.7.7.4

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

NG_012150.1 RefSeqGene

Range

5160..92987

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001015880.2 → NP_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:244 → 612

ATPS; ATP-sulfurylase

cd02027
Location:44 → 194

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 ...
NM_004670.4 → NP_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:244 → 607

ATPS; ATP-sulfurylase

cd02027
Location:44 → 194

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 ...