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

Gene ID: 9060, updated on 24-Nov-2020

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
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

Genomic context

See PAPSS2 in Genome Data Viewer
Location:
10q23.2-q23.31
Exon count:
13
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (87659878..87747705)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (89419476..89507462)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378412 Neighboring gene ribosomal protein S26 pseudogene 38 Neighboring gene ATPase family AAA domain containing 1 Neighboring gene cofilin 1 pseudogene 1 Neighboring gene RNA, 7SL, cytoplasmic 78, pseudogene Neighboring gene killin, p53 regulated DNA replication inhibitor

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
Genome-wide association study of exercise behavior in Dutch and American adults.
GeneReviews: Not available
Spondyloepimetaphyseal dysplasia, pakistani type
MedGen: C2748515 OMIM: 612847 GeneReviews: Not available
Compare labs

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
adenylylsulfate kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleotidyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sulfate adenylyltransferase (ATP) activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
3'-phosphoadenosine 5'-phosphosulfate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
3'-phosphoadenosine 5'-phosphosulfate biosynthetic process TAS
Traceable Author Statement
more info
 
blood coagulation IEA
Inferred from Electronic Annotation
more info
 
bone development IEA
Inferred from Electronic Annotation
more info
 
phosphorylation IEA
Inferred from Electronic Annotation
more info
 
skeletal system development TAS
Traceable Author Statement
more info
PubMed 
sulfate assimilation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sulfate assimilation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
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)

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/Swiss-Prot
    O95340
    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
    UniProtKB/TrEMBL
    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: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

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