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

Gene ID: 55229, updated on 17-Jun-2024

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
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Genomic context

See PANK4 in Genome Data Viewer
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_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2340121-2340621 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2342650-2343230 Neighboring gene retention in endoplasmic reticulum sorting receptor 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr1:2343231-2343811 to GRCh37_chr1:2344393-2344972 Neighboring gene peroxisomal biogenesis factor 10 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:2361610-2361787 Neighboring gene phospholipase C eta 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2377030-2377864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2378700-2379534 Neighboring gene Sharpr-MPRA regulatory region 13638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2383066-2383714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2383715-2384362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2423421-2423982 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:2430511-2431710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2454755-2455542 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2458062-2458782 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2459504-2460224 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:2460225-2460944 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2461459-2461962 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2463669-2464169 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2465753-2466256 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2466257-2466760 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2466761-2467264 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2474412-2475282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2476154-2477024 Neighboring gene hes family bHLH transcription factor 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2479637-2480506 Neighboring gene TNFRSF14 antisense RNA 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:2481723-2482922 Neighboring gene TNF receptor superfamily member 14

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
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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ10782, DKFZp547M242

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

Preferred Names
4'-phosphopantetheine phosphatase
Names
inactive pantothenic acid kinase 4
pantothenic acid kinase 4
NP_060686.3
XP_011540010.2
XP_047280262.1
XP_054184581.1
XP_054184582.1
XP_054193404.1
XP_054193405.1

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.

mRNA and Protein(s)

  1. NM_018216.4NP_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:17771
    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

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    2508537..2526596 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047424306.1XP_047280262.1  4'-phosphopantetheine phosphatase isoform X1

    UniProtKB/TrEMBL
    A0A0G2JR38, E9PHT6
  2. XM_011541708.4XP_011540010.2  4'-phosphopantetheine phosphatase isoform X2

    UniProtKB/TrEMBL
    Q7RTX2
    Conserved Domains (1) summary
    pfam03630
    Location:37364
    Fumble

RNA

  1. XR_241034.4 RNA Sequence

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187515.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    59727..77786 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054328606.1XP_054184581.1  4'-phosphopantetheine phosphatase isoform X1

    UniProtKB/TrEMBL
    A0A0G2JR38, E9PHT6
  2. XM_054328607.1XP_054184582.1  4'-phosphopantetheine phosphatase isoform X2

    UniProtKB/TrEMBL
    Q7RTX2

RNA

  1. XR_008485600.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    1949626..1968240 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054337429.1XP_054193404.1  4'-phosphopantetheine phosphatase isoform X1

    UniProtKB/TrEMBL
    A0A0G2JR38, E9PHT6
  2. XM_054337430.1XP_054193405.1  4'-phosphopantetheine phosphatase isoform X2

    UniProtKB/TrEMBL
    Q7RTX2

RNA

  1. XR_008486090.1 RNA Sequence