PASK PAS domain containing serine/threonine kinase [Homo sapiens (human)] - Gene

Summary

Official Symbol: PASKprovided by HGNC
Official Full Name: PAS domain containing serine/threonine kinaseprovided by HGNC
Primary source: HGNC:HGNC:17270
See related: Ensembl:ENSG00000115687 MIM:607505; AllianceGenome:HGNC:17270
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: STK37; PASKIN
Summary: This gene encodes a member of the serine/threonine kinase family that contains two PAS domains. Expression of this gene is regulated by glucose, and the encoded protein plays a role in the regulation of insulin gene expression. Downregulation of this gene may play a role in type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Expression: Broad expression in testis (RPKM 7.9), lymph node (RPKM 6.8) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q37.3

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (241106099..241150347, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (241605207..241649447, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (242045514..242089637, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MTORC1-PASK signaling is required for the rise of myogenin-positive committed myoblasts.
Title: Activation of PASK by mTORC1 is required for the onset of the terminal differentiation program.
we show that the nuclear PASK associates with the mammalian H3K4 MLL2 methyltransferase complex and enhances H3K4 di- and tri-methylation. We also show that PASK is a histone kinase that phosphorylates H3 at T3, T6, S10 and T11.
Title: The metabolic sensor PASK is a histone 3 kinase that also regulates H3K4 methylation by associating with H3K4 MLL2 methyltransferase complex.
we provide the first evidence for a role of USF1 in respiration since it appeared to complement Cbf1 in vivo as determined by respiration phenotypes. In addition, we confirmed USF1 as a substrate of human PAS kinase (hPASK) in vitro Combined, our data supports a model in which Cbf1/USF1 functions to partition glucose toward respiration and away from lipid biogenesis
Title: The Regulation of Cbf1 by PAS Kinase Is a Pivotal Control Point for Lipogenesis vs. Respiration in Saccharomyces cerevisiae.
PASK phosphorylates and inactivates GSK3beta, thereby preventing PDX-1 serine phosphorylation and alleviating GSK3beta-mediated PDX-1 protein degradation in pancreatic beta-cells.
Title: Per-Arnt-Sim kinase regulates pancreatic duodenal homeobox-1 protein stability via phosphorylation of glycogen synthase kinase 3β in pancreatic β-cells.
Mutations that affect PAS domain cause a severe protein trafficking defect and change the interactions with Kv11.1 channels.
Title: Trafficking defects in PAS domain mutant Kv11.1 channels: roles of reduced domain stability and altered domain-domain interactions.
The role of PAS kinase in PASsing the glucose signal.
Title: The role of PAS kinase in PASsing the glucose signal.
Per-Arnt-Sim (PAS) domain-containing protein kinase (PASK) has a role in insulin hypersecretion
Title: Human mutation within Per-Arnt-Sim (PAS) domain-containing protein kinase (PASK) causes basal insulin hypersecretion.
PASK is involved in the regulation of glucagon secretion by glucose and may be a useful target for the treatment of type 2 diabetes.
Title: Per-arnt-sim (PAS) domain-containing protein kinase is downregulated in human islets in type 2 diabetes and regulates glucagon secretion.
Structural bases of PAS domain-regulated kinase (PASK) activation in the absence of activation loop phosphorylation.
Title: Structural bases of PAS domain-regulated kinase (PASK) activation in the absence of activation loop phosphorylation.
Results suggest that elevated glucose concentrations rapidly increase Per-Arnt-Sim kinase activity in pancreatic islet beta cells, followed by up-regulation by glucose of preproinsulin and pancreatic duodenum homeobox 1 gene expression.
Title: Involvement of Per-Arnt-Sim (PAS) kinase in the stimulation of preproinsulin and pancreatic duodenum homeobox 1 gene expression by glucose.

Submit: New GeneRIF Correction See all GeneRIFs (12)

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

EBI GWAS Catalog

Description
Genome-wide association study in Han Chinese identifies three novel loci for human height. 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

RH25358 (e-PCR)
- UniSTS:92426

G63684 (e-PCR)
- UniSTS:140646

D1S1423 (e-PCR)
- UniSTS:149619

SHGC-30587 (e-PCR)
- UniSTS:3455

G42011 (e-PCR)
- UniSTS:48001

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in energy homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of glycogen biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of glycogen biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of translation	TAS Traceable Author Statement more info	PubMed
involved_in protein autophosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein phosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of glucagon secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of respiratory gaseous exchange	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: PAS domain-containing serine/threonine-protein kinase

Names: per-arnt-sim (PAS) domain kinase

NP_001239048.1

EC 2.7.11.1

NP_001239049.1

EC 2.7.11.1

NP_001239051.1

EC 2.7.11.1

NP_001239053.1

EC 2.7.11.1

NP_055963.2

EC 2.7.11.1

XP_011509136.2

EC 2.7.11.1

XP_047299691.1

EC 2.7.11.1

XP_047299692.1

EC 2.7.11.1

XP_054197046.1

EC 2.7.11.1

XP_054197047.1

EC 2.7.11.1

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_052850.1 RefSeqGene

Range

5876..49249

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001252119.2 → NP_001239048.1 PAS domain-containing serine/threonine-protein kinase isoform 1

See identical proteins and their annotated locations for NP_001239048.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

BC063585, D50925, DA104684

Consensus CDS

CCDS58759.1

UniProtKB/TrEMBL

B7Z7R6

Related

ENSP00000351475.4, ENST00000358649.8

Conserved Domains (3) summary

smart00091
Location:344 → 401

PAS; PAS domain

cd00130
Location:133 → 232

PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...

cd14004
Location:998 → 1258

STKc_PASK; Catalytic domain of the Serine/Threonine kinase, Per-ARNT-Sim (PAS) domain Kinase
NM_001252120.2 → NP_001239049.1 PAS domain-containing serine/threonine-protein kinase isoform 2

See identical proteins and their annotated locations for NP_001239049.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate splice site in the 3' coding region, but maintains the reading frame, compared to variant 1. Variants 2 and 3 encode the same isoform (2), which is shorter than isoform 1.

Source sequence(s)

AC005237, BC063585

Consensus CDS

CCDS2545.1

UniProtKB/Swiss-Prot

G5E9F1, Q05BE4, Q68DY3, Q6GSJ5, Q86XH6, Q96RG2, Q99763, Q9UFR7

UniProtKB/TrEMBL

B7Z7R6

Related

ENSP00000441374.2, ENST00000544142.5

Conserved Domains (5) summary

smart00091
Location:344 → 401

PAS; PAS domain

smart00220
Location:999 → 1251

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd00130
Location:133 → 232

PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...

cd14004
Location:998 → 1251

STKc_PASK; Catalytic domain of the Serine/Threonine kinase, Per-ARNT-Sim (PAS) domain Kinase

pfam13426
Location:133 → 232

PAS_9; PAS domain
NM_001252122.2 → NP_001239051.1 PAS domain-containing serine/threonine-protein kinase isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses two alternate splice sites in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.

Source sequence(s)

AK302417, BC063585, DA104684

UniProtKB/TrEMBL

B7Z7R6

Conserved Domains (5) summary

smart00091
Location:309 → 366

PAS; PAS domain

smart00220
Location:964 → 1216

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd00130
Location:133 → 232

PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...

cd14004
Location:963 → 1216

STKc_PASK; Catalytic domain of the Serine/Threonine kinase, Per-ARNT-Sim (PAS) domain Kinase

pfam13426
Location:133 → 232

PAS_9; PAS domain
NM_001252124.2 → NP_001239053.1 PAS domain-containing serine/threonine-protein kinase isoform 4

See identical proteins and their annotated locations for NP_001239053.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks a splice site in the 3' coding region, which results in a frameshift and alternate 3' UTR compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC005237, AL117400, BC050565, BC063585, DA104684

Consensus CDS

CCDS58758.1

UniProtKB/TrEMBL

B7Z7R6

Related

ENSP00000384438.3, ENST00000403638.7

Conserved Domains (4) summary

smart00091
Location:344 → 401

PAS; PAS domain

cd00130
Location:133 → 232

PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...

pfam13426
Location:133 → 232

PAS_9; PAS domain

cl21453
Location:998 → 1115

PKc_like; Protein Kinases, catalytic domain
NM_015148.4 → NP_055963.2 PAS domain-containing serine/threonine-protein kinase isoform 2

See identical proteins and their annotated locations for NP_055963.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, but maintains the reading frame, compared to variant 1. Variants 2 and 3 encode the same isoform (2), which is shorter than isoform 1.

Source sequence(s)

BC063585, DA104684

Consensus CDS

CCDS2545.1

UniProtKB/Swiss-Prot

G5E9F1, Q05BE4, Q68DY3, Q6GSJ5, Q86XH6, Q96RG2, Q99763, Q9UFR7

UniProtKB/TrEMBL

B7Z7R6

Related

ENSP00000234040.5, ENST00000234040.9

Conserved Domains (5) summary

smart00091
Location:344 → 401

PAS; PAS domain

smart00220
Location:999 → 1251

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd00130
Location:133 → 232

PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...

cd14004
Location:998 → 1251

STKc_PASK; Catalytic domain of the Serine/Threonine kinase, Per-ARNT-Sim (PAS) domain Kinase

pfam13426
Location:133 → 232

PAS_9; PAS domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

241106099..241150347 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047443736.1 → XP_047299692.1 PAS domain-containing serine/threonine-protein kinase isoform X2
XM_047443735.1 → XP_047299691.1 PAS domain-containing serine/threonine-protein kinase isoform X1
XM_011510834.2 → XP_011509136.2 PAS domain-containing serine/threonine-protein kinase isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

241605207..241649447 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054341072.1 → XP_054197047.1 PAS domain-containing serine/threonine-protein kinase isoform X2
XM_054341071.1 → XP_054197046.1 PAS domain-containing serine/threonine-protein kinase isoform X1