PANK4 pantothenate kinase 4 (inactive) [Homo sapiens (human)] - Gene

Summary

Official Symbol: PANK4provided by HGNC
Official Full Name: pantothenate kinase 4 (inactive)provided by HGNC
Primary source: HGNC:HGNC:19366
See related: Ensembl:ENSG00000157881 MIM:606162; AllianceGenome:HGNC:19366
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: CTRCT49
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 most abundant in muscle but is expressed in all tissues. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in spleen (RPKM 4.0), heart (RPKM 3.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.32

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (2508537..2526596, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (1949626..1968240, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (2439976..2458035, complement)

Chromosome 1 - NC_000001.11 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?

The human PANK4 is a pseudo-pantothenate kinase-a catalytically deficient variant of the catalytically active PANK4 found in plants and fungi.
Title: Human pantothenate kinase 4 is a pseudo-pantothenate kinase.
the association of a new entity of an autosomal dominant cataract with mutations in PANK4, which influences cell proliferation, apoptosis of lens epithelial cells, crystallin abnormalities, and fiber cell derangement, subsequently induces cataract.
Title: A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract.
Observational study of gene-disease association. (HuGE Navigator)
Title: [Screening susceptibility genes of type 2 diabetes in Chinese population by single nucleotide polymorphism analysis].
PanK4 interacts with Pkm2 and thereby may modulate the glucose metabolism through regulating the activity of Pkm2.
Title: High glucose upregulates pantothenate kinase 4 (PanK4) and thus affects M2-type pyruvate kinase (Pkm2).

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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
Cataract 49 MedGen: C5562010 OMIM: 619593 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-74070 (e-PCR)
- UniSTS:55066

PANK4__5823 (e-PCR)
- UniSTS:463771

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
NOT enables pantothenate kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables phosphatase activity	EXP Inferred from Experiment more info	PubMed

Process	Evidence Code	Pubs
involved_in coenzyme A biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in pantothenate metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: 4'-phosphopantetheine phosphatase

Names: inactive pantothenic acid kinase 4; pantothenic acid kinase 4

NP_060686.3

EC 2.7.1.33

XP_011540010.2

EC 2.7.1.33

XP_047280262.1

EC 2.7.1.33

XP_054184581.1

EC 2.7.1.33

XP_054184582.1

EC 2.7.1.33

XP_054193404.1

EC 2.7.1.33

XP_054193405.1

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.

mRNA and Protein(s)

NM_018216.4 → NP_060686.3 4'-phosphopantetheine phosphatase

Status: REVIEWED

Source sequence(s)

AK001644, DC316156

Consensus CDS

CCDS42.3

UniProtKB/Swiss-Prot

B9DI84, Q53EU3, Q5TA84, Q7RTX3, Q9H3X5, Q9NVE7

UniProtKB/TrEMBL

B4DHW9

Related

ENSP00000367727.5, ENST00000378466.9

Conserved Domains (1) summary

PLN02902
Location:17 → 771

PLN02902; pantothenate kinase

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_000001.11 Reference GRCh38.p14 Primary Assembly

Range

2508537..2526596 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047424306.1 → XP_047280262.1 4'-phosphopantetheine phosphatase isoform X1
XM_011541708.4 → XP_011540010.2 4'-phosphopantetheine phosphatase isoform X2

UniProtKB/TrEMBL

Q7RTX2

Conserved Domains (1) summary

pfam03630
Location:37 → 364

Fumble