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PANK2 pantothenate kinase 2 [ Homo sapiens (human) ]

Gene ID: 80025, updated on 2-Mar-2021

Summary

Official Symbol
PANK2provided by HGNC
Official Full Name
pantothenate kinase 2provided by HGNC
Primary source
HGNC:HGNC:15894
See related
Ensembl:ENSG00000125779 MIM:606157
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
HSS; HARP; PKAN; NBIA1; C20orf48
Summary
This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. 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 acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in bone marrow (RPKM 4.5), brain (RPKM 4.1) and 25 other tissues See more
Orthologs
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Genomic context

See PANK2 in Genome Data Viewer
Location:
20p13
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (3888781..3929887)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (3869428..3910534)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene NFE2L2 motif-containing MPRA enhancer 155/156 Neighboring gene mitochondrial antiviral signaling protein Neighboring gene PANK2 antisense RNA 1 Neighboring gene microRNA 103a-2 Neighboring gene microRNA 103b-2 Neighboring gene ring finger protein 24 Neighboring gene ferritin light chain pseudogene 3 Neighboring gene ribosomal protein L21 pseudogene 2

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ17232, MGC15053

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
pantothenate kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
pantothenate kinase activity NAS
Non-traceable Author Statement
more info
PubMed 
pantothenate kinase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
aerobic respiration IEA
Inferred from Electronic Annotation
more info
 
coenzyme A biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
coenzyme A biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
coenzyme A biosynthetic process NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrion morphogenesis IEA
Inferred from Electronic Annotation
more info
 
pantothenate metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
phosphorylation NAS
Non-traceable Author Statement
more info
PubMed 
regulation of bile acid metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of fatty acid metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of mitochondrial membrane potential IEA
Inferred from Electronic Annotation
more info
 
regulation of triglyceride metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
spermatid development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
mitochondrial intermembrane space IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial intermembrane space TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion NAS
Non-traceable Author Statement
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
pantothenate kinase 2, mitochondrial
Names
Hallervorden-Spatz syndrome
pantothenate kinase-associated neurodegeneration
pantothenic acid kinase 2
NP_001311120.1
NP_001311121.1
NP_001311122.1
NP_001373322.1
NP_079236.3
NP_705902.2
NP_705904.1

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

  1. NG_008131.3 RefSeqGene

    Range
    5085..46049
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001324191.2NP_001311120.1  pantothenate kinase 2, mitochondrial isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL031670, AL353194, BX118574
    Consensus CDS
    CCDS13072.1
    UniProtKB/Swiss-Prot
    Q9BZ23
    Conserved Domains (1) summary
    pfam03630
    Location:1271
    Fumble
  2. NM_001324192.1NP_001311121.1  pantothenate kinase 2, mitochondrial isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL353194, BF223391
  3. NM_001324193.2NP_001311122.1  pantothenate kinase 2, mitochondrial isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL031670, AL532307, BC107724, BX118574
    UniProtKB/TrEMBL
    D3DVZ1
    Related
    ENSP00000476745.1, ENST00000495692.5
    Conserved Domains (1) summary
    cl17037
    Location:1126
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
  4. NM_001386393.1NP_001373322.1  pantothenate kinase 2, mitochondrial isoform 7 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) uses a downstream transcription start site and a downstream non-AUG translation start site, compared to variant 1. The encoded isoform (7) is also mitochondrially localized but has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AL031670, AL353194
    Related
    ENSP00000477429.1, ENST00000610179.5
  5. NM_024960.6NP_079236.3  pantothenate kinase 2, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_079236.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate first exon, and uses a downstream translation initiation site, compared to variant 1. The resulting protein (isoform 2) lacks an N-terminal segment compared to isoform 1, resulting in a shorter protein that shares identity through the C-terminus. Isoform 2 is not expressed in mitochondria. Variants 2, 3 and 7 encode isoform 2.
    Source sequence(s)
    AK021791, AL031670, AL353194, BX118574
    Consensus CDS
    CCDS13072.1
    UniProtKB/Swiss-Prot
    Q9BZ23
    Related
    ENSP00000417609.1, ENST00000497424.5
    Conserved Domains (1) summary
    pfam03630
    Location:1271
    Fumble
  6. NM_153638.4NP_705902.2  pantothenate kinase 2, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_705902.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest mitochondrially localized isoform (1). It uses upstream transcription and translation start sites, compared to variant 11.
    Source sequence(s)
    AL031670, AL353194
    Consensus CDS
    CCDS13071.2
    UniProtKB/Swiss-Prot
    Q9BZ23
    Related
    ENSP00000313377.4, ENST00000316562.8
    Conserved Domains (1) summary
    pfam03630
    Location:214562
    Fumble; Fumble
  7. NM_153640.4NP_705904.1  pantothenate kinase 2, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_705904.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate first exon, and uses a downstream translation initiation site, compared to variant 1. The resulting protein (isoform 2) lacks an N-terminal segment compared to isoform 1, resulting in a shorter protein that shares identity through the C-terminus. Isoform 2 is not expressed in mitochondria. Variants 2, 3 and 7 encode isoform 2.
    Source sequence(s)
    AL031670, AL532307, BC065019, BC107724, BX118574
    Consensus CDS
    CCDS13072.1
    UniProtKB/Swiss-Prot
    Q9BZ23
    UniProtKB/TrEMBL
    Q6P1K9
    Related
    ENSP00000481523.1, ENST00000621507.1
    Conserved Domains (1) summary
    pfam03630
    Location:1271
    Fumble

RNA

  1. NR_136715.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL031670, AL353194, BC009421, BX118574

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    3888781..3929887
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_153637.1: Suppressed sequence

    Description
    NM_153637.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
  2. NM_153639.1: Suppressed sequence

    Description
    NM_153639.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  3. NM_153641.1: Suppressed sequence

    Description
    NM_153641.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
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