PANK3 pantothenate kinase 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PANK3provided by HGNC
Official Full Name: pantothenate kinase 3provided by HGNC
Primary source: HGNC:HGNC:19365
See related: Ensembl:ENSG00000120137 MIM:606161; AllianceGenome:HGNC:19365
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
Summary: This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. This family member is expressed most abundantly in the liver. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in duodenum (RPKM 27.0), colon (RPKM 21.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q34

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (168548495..168579368, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (169083277..169114160, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (167975500..168006373, complement)

Chromosome 5 - NC_000005.10 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?

Biochemical analyses showed that the transition between the inactive and active conformations, as assessed by the binding of either ATP.Mg(2+) or acyl-CoA to PANK3, is highly cooperative indicating that both protomers move in concert.
Title: Allosteric Regulation of Mammalian Pantothenate Kinase.
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.

Submit: New GeneRIF Correction

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

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 3 (PANK3) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	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

NoName (e-PCR)
- UniSTS:14879

RH69142 (e-PCR)
- UniSTS:49193

WI-15765 (e-PCR)
- UniSTS:60494

bac51013S (e-PCR)
- UniSTS:181406

RH68356 (e-PCR)
- UniSTS:20648

RH93527 (e-PCR)
- UniSTS:84142

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables acetyl-CoA binding	IDA Inferred from Direct Assay 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 pantothenate kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables vitamin binding	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	IDA Inferred from Direct Assay more info	PubMed
involved_in coenzyme A biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in coenzyme A biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed

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

General protein information

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Preferred Names: pantothenate kinase 3

Names: hPanK3; pantothenic acid kinase 3

NP_078870.1

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.