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    PANK1 pantothenate kinase 1 [ Homo sapiens (human) ]

    Gene ID: 53354, updated on 3-Dec-2024

    Summary

    Official Symbol
    PANK1provided by HGNC
    Official Full Name
    pantothenate kinase 1provided by HGNC
    Primary source
    HGNC:HGNC:8598
    See related
    Ensembl:ENSG00000152782 MIM:606160; AllianceGenome:HGNC:8598
    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
    PANK
    Summary
    This gene encodes a member of the pantothenate kinase family. Pantothenate kinases are key regulatory enzymes in the biosynthesis of coenzyme A (CoA). The encoded protein catalyzes the first and rate-limiting enzymatic reaction in CoA biosynthesis and is regulated by CoA through feedback inhibition. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene and an intronic miRNA on the same strand are co-regulated by the tumor suppressor p53 (see PMID 20833636). [provided by RefSeq, Apr 2011]
    Expression
    Broad expression in liver (RPKM 8.6), kidney (RPKM 7.3) and 16 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PANK1 in Genome Data Viewer
    Location:
    10q23.31
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (89579495..89645242, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (90463392..90529134, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (91339252..91404999, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3751 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3752 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:91181772-91182971 Neighboring gene interferon induced protein with tetratricopeptide repeats 5 Neighboring gene solute carrier family 16 member 12 Neighboring gene SLC16A12 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:91236124-91236624 Neighboring gene NANOG hESC enhancer GRCh37_chr10:91250383-91250884 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr10:91293618-91294517 Neighboring gene OCT4 hESC enhancer GRCh37_chr10:91318626-91319150 Neighboring gene microRNA 107 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:91396001-91396502 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2593 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2594 Neighboring gene PANK1 antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr10:91453141-91453642 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2595 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:91460993-91461508 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:91461509-91462025 Neighboring gene tigger transposable element derived 2 pseudogene Neighboring gene kinesin family member 20B Neighboring gene NANOG hESC enhancer GRCh37_chr10:91500841-91501342

    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

    EBI GWAS Catalog

    Description
    Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of pantothenate kinase 1 (PANK1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    capsid gag The interaction of HIV-1 CA with human cellular pantothenate kinase 1 protein (PANK1) is identified by yeast two-hybrid screen PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC24596

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables acetyl-CoA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables pantothenate kinase activity EXP
    Inferred from Experiment
    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 protein homodimerization activity 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 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in coenzyme A biosynthetic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in clathrin-coated vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in recycling endosome IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    pantothenate kinase 1
    Names
    pantothenic acid kinase 1
    NP_612189.2
    NP_683878.2
    NP_683879.1
    XP_016871822.1
    XP_016871823.1
    XP_016871825.1
    XP_047281310.1
    XP_054222068.1
    XP_054222069.1
    XP_054222070.1
    XP_054222071.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_029474.1 RefSeqGene

      Range
      5331..67585
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_138316.4NP_612189.2  pantothenate kinase 1 isoform gamma

      See identical proteins and their annotated locations for NP_612189.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (gamma) differs in the 5' UTR, lacks a portion of the 5' coding region and an internal coding exon, and initiates translation at an alternate start codon, compared to variant alpha. The encoded isoform (gamma) has a distinct N-terminus and is shorter than isoform alpha.
      Source sequence(s)
      AL157400
      Consensus CDS
      CCDS7405.1
      UniProtKB/Swiss-Prot
      Q8TE04
      Related
      ENSP00000318526.6, ENST00000322191.10
      Conserved Domains (1) summary
      pfam03630
      Location:14303
      Fumble
    2. NM_148977.3NP_683878.2  pantothenate kinase 1 isoform alpha

      Status: REVIEWED

      Description
      Transcript Variant: This variant (alpha) represents the longest transcript and encodes the longest isoform (alpha).
      Source sequence(s)
      AL157400
      Consensus CDS
      CCDS31244.2
      UniProtKB/TrEMBL
      A0A8C8KBT8, B3KWN3
      Related
      ENSP00000302108.5, ENST00000307534.10
      Conserved Domains (1) summary
      TIGR00555
      Location:100453
      panK_eukar; pantothenate kinase, eukaryotic/staphyloccocal type
    3. NM_148978.3NP_683879.1  pantothenate kinase 1 isoform beta

      See identical proteins and their annotated locations for NP_683879.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (beta) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant alpha. The encoded isoform (beta) has a distinct N-terminus and is shorter than isoform alpha.
      Source sequence(s)
      AL157400, AY027662
      Consensus CDS
      CCDS7406.1
      UniProtKB/TrEMBL
      B3KXQ7
      Related
      ENSP00000345118.3, ENST00000342512.4
      Conserved Domains (1) summary
      pfam03630
      Location:14362
      Fumble

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      89579495..89645242 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017016334.2XP_016871823.1  pantothenate kinase 1 isoform X2

    2. XM_017016333.3XP_016871822.1  pantothenate kinase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q8TE04
      Conserved Domains (1) summary
      pfam03630
      Location:41389
      Fumble; Fumble
    3. XM_047425354.1XP_047281310.1  pantothenate kinase 1 isoform X3

      UniProtKB/TrEMBL
      B3KXQ7
    4. XM_017016336.2XP_016871825.1  pantothenate kinase 1 isoform X4

      UniProtKB/TrEMBL
      B3KXQ7
      Conserved Domains (1) summary
      pfam03630
      Location:10358
      Fumble; Fumble

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      90463392..90529134 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366094.1XP_054222069.1  pantothenate kinase 1 isoform X2

    2. XM_054366093.1XP_054222068.1  pantothenate kinase 1 isoform X1

    3. XM_054366095.1XP_054222070.1  pantothenate kinase 1 isoform X3

      UniProtKB/TrEMBL
      B3KXQ7
    4. XM_054366096.1XP_054222071.1  pantothenate kinase 1 isoform X4

      UniProtKB/TrEMBL
      B3KXQ7