PANK1 pantothenate kinase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PANK1provided by HGNC
Official Full Name: pantothenate kinase 1provided by HGNC
Primary source: HGNC:HGNC:8598
See related: Ensembl:ENSG00000152782 MIM:606160; AllianceGenome:HGNC:8598
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: PANK
Summary: This gene encodes a member of the pantothenate kinase family. Pantothenate kinases are key regulatory enzymes in the biosynthesis of coenzyme A (CoA). The encoded protein catalyzes the first and rate-limiting enzymatic reaction in CoA biosynthesis and is regulated by CoA through feedback inhibition. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene and an intronic miRNA on the same strand are co-regulated by the tumor suppressor p53 (see PMID 20833636). [provided by RefSeq, Apr 2011]
Expression: Broad expression in liver (RPKM 8.6), kidney (RPKM 7.3) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q23.31

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (89579495..89645242, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (90463392..90529134, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (91339252..91404999, complement)

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: HPA RNA-seq normal tissues 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?

Expression and Prognostic Role of PANK1 in Glioma.
Title: Expression and Prognostic Role of PANK1 in Glioma.
Pantothenate Kinase 1 Inhibits the Progression of Hepatocellular Carcinoma by Negatively Regulating Wnt/beta-catenin Signaling.
Title: Pantothenate Kinase 1 Inhibits the Progression of Hepatocellular Carcinoma by Negatively Regulating Wnt/β-catenin Signaling.
p53 plays an important role in regulating energy homeostasis through transcriptional control of PANK1.
Title: p53-Dependent regulation of metabolic function through transcriptional activation of pantothenate kinase-1 gene.
PANK deficiency leads to abnormalities in F-actin organization.
Title: Cofilin/Twinstar phosphorylation levels increase in response to impaired coenzyme a metabolism.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
Observational study of gene-disease association. (HuGE Navigator)
Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
analysis of the homodimeric structures of the catalytic cores of PanK1alpha and PanK3 in complex with acetyl-CoA and the the structural effects of the PanK2 mutations that have been implicated in neurodegeneration
Title: Crystal structures of human pantothenate kinases. Insights into allosteric regulation and mutations linked to a neurodegeneration disorder.
alternative splicing product
Title: In reference to the Short Communication published by Ni et al.
PPARalpha transcription factor as a major factor governing hepatic CoA levels by specific modulation of PANK1alpha gene expression
Title: PPARalpha controls the intracellular coenzyme A concentration via regulation of PANK1alpha gene expression.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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 analysis of metabolic traits in a birth cohort from a founder population. 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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of pantothenate kinase 1 (PANK1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
capsid	gag	The interaction of HIV-1 CA with human cellular pantothenate kinase 1 protein (PANK1) is identified by yeast two-hybrid screen	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G63343 (e-PCR)
- UniSTS:140310

D8S2279 (e-PCR)
- UniSTS:473907

G20295 (e-PCR)
- UniSTS:76856

RH78326 (e-PCR)
- UniSTS:75833

A005K48 (e-PCR)
- UniSTS:76857

SHGC-132396 (e-PCR)
- UniSTS:170818

WI-18510 (e-PCR)
- UniSTS:16479

SHGC-2617 (e-PCR)
- UniSTS:41585

D11S3114 (e-PCR)
- UniSTS:152207

PANK1__5821 (e-PCR)
- UniSTS:463770

WI-11734 (e-PCR)
- UniSTS:28885

STS-Z40596 (e-PCR)
- UniSTS:52957

SHGC-154001 (e-PCR)
- UniSTS:182263

STS-F09841 (e-PCR)
- UniSTS:31485

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables acetyl-CoA binding	IDA Inferred from Direct Assay more info	PubMed
enables pantothenate kinase activity	EXP Inferred from Experiment more info	PubMed
enables pantothenate kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables pantothenate kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in coenzyme A biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in coenzyme A biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in coenzyme A biosynthetic process	TAS Traceable Author Statement more info
involved_in phosphorylation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in clathrin-coated vesicle	IEA Inferred from Electronic Annotation 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	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleolus	IEA Inferred from Electronic Annotation 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
located_in recycling endosome	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: pantothenate kinase 1

Names: pantothenic acid kinase 1

NP_612189.2

EC 2.7.1.33

NP_683878.2

EC 2.7.1.33

NP_683879.1

EC 2.7.1.33

XP_016871822.1

EC 2.7.1.33

XP_016871823.1

EC 2.7.1.33

XP_016871825.1

EC 2.7.1.33

XP_047281310.1

EC 2.7.1.33

XP_054222068.1

EC 2.7.1.33

XP_054222069.1

EC 2.7.1.33

XP_054222070.1

EC 2.7.1.33

XP_054222071.1

EC 2.7.1.33

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_029474.1 RefSeqGene

Range

5331..67585

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_138316.4 → NP_612189.2 pantothenate kinase 1 isoform gamma

See identical proteins and their annotated locations for NP_612189.2

Status: REVIEWED

Description

Transcript Variant: This variant (gamma) differs in the 5' UTR, lacks a portion of the 5' coding region and an internal coding exon, and initiates translation at an alternate start codon, compared to variant alpha. The encoded isoform (gamma) has a distinct N-terminus and is shorter than isoform alpha.

Source sequence(s)

AL157400

Consensus CDS

CCDS7405.1

UniProtKB/Swiss-Prot

Q8TE04

Related

ENSP00000318526.6, ENST00000322191.10

Conserved Domains (1) summary

pfam03630
Location:14 → 303

Fumble
NM_148977.3 → NP_683878.2 pantothenate kinase 1 isoform alpha

Status: REVIEWED

Description

Transcript Variant: This variant (alpha) represents the longest transcript and encodes the longest isoform (alpha).

Source sequence(s)

AL157400

Consensus CDS

CCDS31244.2

UniProtKB/TrEMBL

A0A8C8KBT8, B3KWN3

Related

ENSP00000302108.5, ENST00000307534.10

Conserved Domains (1) summary

TIGR00555
Location:100 → 453

panK_eukar; pantothenate kinase, eukaryotic/staphyloccocal type
NM_148978.3 → NP_683879.1 pantothenate kinase 1 isoform beta

See identical proteins and their annotated locations for NP_683879.1

Status: REVIEWED

Description

Transcript Variant: This variant (beta) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant alpha. The encoded isoform (beta) has a distinct N-terminus and is shorter than isoform alpha.

Source sequence(s)

AL157400, AY027662

Consensus CDS

CCDS7406.1

UniProtKB/TrEMBL

B3KXQ7

Related

ENSP00000345118.3, ENST00000342512.4

Conserved Domains (1) summary

pfam03630
Location:14 → 362

Fumble

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

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

89579495..89645242 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017016334.2 → XP_016871823.1 pantothenate kinase 1 isoform X2
XM_017016333.3 → XP_016871822.1 pantothenate kinase 1 isoform X1

UniProtKB/Swiss-Prot

Q8TE04

Conserved Domains (1) summary

pfam03630
Location:41 → 389

Fumble; Fumble
XM_047425354.1 → XP_047281310.1 pantothenate kinase 1 isoform X3
XM_017016336.2 → XP_016871825.1 pantothenate kinase 1 isoform X4

UniProtKB/TrEMBL

B3KXQ7

Conserved Domains (1) summary

pfam03630
Location:10 → 358

Fumble; Fumble