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    PANK2 pantothenate kinase 2 [ Homo sapiens (human) ]

    Gene ID: 80025, updated on 22-Apr-2017
    Official Symbol
    PANK2provided by HGNC
    Official Full Name
    pantothenate kinase 2provided by HGNC
    Primary source
    HGNC:HGNC:15894
    See related
    Ensembl:ENSG00000125779 MIM:606157; Vega:OTTHUMG00000031768
    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]
    Orthologs
    Location:
    20p13
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 20 NC_000020.11 (3888839..3929882)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (3869486..3904538)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene adaptor related protein complex 5 sigma 1 subunit Neighboring gene mitochondrial antiviral signaling protein Neighboring gene uncharacterized LOC107985395 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

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    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 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 IEA
    Inferred from Electronic Annotation
    more info
     
    coenzyme A biosynthetic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    coenzyme biosynthetic process TAS
    Traceable Author Statement
    more info
     
    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 IDA
    Inferred from Direct Assay
    more info
     
    mitochondrial intermembrane space TAS
    Traceable Author Statement
    more info
     
    mitochondrion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Preferred Names
    pantothenate kinase 2, mitochondrial
    Names
    Hallervorden-Spatz syndrome
    pantothenic acid kinase 2
    NP_001311120.1
    NP_001311121.1
    NP_001311122.1
    NP_079236.3
    NP_705902.2
    NP_705904.1

    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
      5257..40017
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001324191.1NP_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; Fumble
    2. NM_001324192.1NP_001311121.1  pantothenate kinase 2, mitochondrial isoform 5

      Status: REVIEWED

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

      Status: REVIEWED

      Source sequence(s)
      AL031670, AL532307, BC107724, BX118574
      UniProtKB/TrEMBL
      D3DVZ1
      Conserved Domains (1) summary
      cl17037
      Location:1126
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    4. NM_024960.5NP_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, OTTHUMP00000030143, ENST00000497424.5, OTTHUMT00000077787
      Conserved Domains (1) summary
      pfam03630
      Location:1271
      Fumble; Fumble
    5. NM_153638.3NP_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 and mitochondrially localized isoform (1).
      Source sequence(s)
      AF494409, AL031670, AL353194, BX118574
      Consensus CDS
      CCDS13071.2
      UniProtKB/Swiss-Prot
      Q9BZ23
      Related
      ENSP00000313377.4, OTTHUMP00000030148, ENST00000316562.8, OTTHUMT00000077793
      Conserved Domains (1) summary
      pfam03630
      Location:214562
      Fumble; Fumble
    6. NM_153640.3NP_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; Fumble

    RNA

    1. NR_136715.1 RNA Sequence

      Status: REVIEWED

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

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p7 Primary Assembly

      Range
      3888839..3929882
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028079.1XP_016883568.1  pantothenate kinase 2, mitochondrial isoform X5

      UniProtKB/TrEMBL
      D3DVZ1
      Related
      ENSP00000476745.1, OTTHUMP00000274454, ENST00000495692.5, OTTHUMT00000077789
      Conserved Domains (1) summary
      cl17037
      Location:1126
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    2. XM_005260836.4XP_005260893.3  pantothenate kinase 2, mitochondrial isoform X4

      See identical proteins and their annotated locations for XP_005260893.3

      UniProtKB/Swiss-Prot
      Q9BZ23
      Conserved Domains (1) summary
      pfam03630
      Location:1271
      Fumble; Fumble
    3. XM_011529364.2XP_011527666.1  pantothenate kinase 2, mitochondrial isoform X1

      Conserved Domains (1) summary
      pfam03630
      Location:214503
      Fumble; Fumble
    4. XM_011529365.2XP_011527667.1  pantothenate kinase 2, mitochondrial isoform X3

      Conserved Domains (1) summary
      cl17037
      Location:214278
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    5. XM_017028077.1XP_016883566.1  pantothenate kinase 2, mitochondrial isoform X5

      UniProtKB/TrEMBL
      D3DVZ1
      Conserved Domains (1) summary
      cl17037
      Location:1126
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    6. XM_017028078.1XP_016883567.1  pantothenate kinase 2, mitochondrial isoform X5

      UniProtKB/TrEMBL
      D3DVZ1
      Conserved Domains (1) summary
      cl17037
      Location:1126
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    7. XM_005260835.3XP_005260892.1  pantothenate kinase 2, mitochondrial isoform X2

      Related
      ENSP00000477429.1, OTTHUMP00000274456, ENST00000610179.5, OTTHUMT00000473149
      Conserved Domains (1) summary
      pfam03630
      Location:9357
      Fumble; Fumble

    Alternate CHM1_1.1

    Genomic

    1. NC_018931.2 Alternate CHM1_1.1

      Range
      3869486..3910516
      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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