LOCUS       NM_153501               4271 bp    mRNA    linear   ROD 11-JUN-2024
DEFINITION  Mus musculus pantothenate kinase 2 (Pank2), transcript variant 1,
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_153501
VERSION     NM_153501.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 4271)
  AUTHORS   Collin,G.B., Gogna,N., Chang,B., Damkham,N., Pinkney,J., Hyde,L.F.,
            Stone,L., Naggert,J.K., Nishina,P.M. and Krebs,M.P.
  TITLE     Mouse Models of Inherited Retinal Degeneration with Photoreceptor
            Cell Loss
  JOURNAL   Cells 9 (4), 931 (2020)
   PUBMED   32290105
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4271)
  AUTHORS   Sharma,L.K., Subramanian,C., Yun,M.K., Frank,M.W., White,S.W.,
            Rock,C.O., Lee,R.E. and Jackowski,S.
  TITLE     A therapeutic approach to pantothenate kinase associated
            neurodegeneration
  JOURNAL   Nat Commun 9 (1), 4399 (2018)
   PUBMED   30352999
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4271)
  AUTHORS   Hayflick,S.J., Kurian,M.A. and Hogarth,P.
  TITLE     Neurodegeneration with brain iron accumulation
  JOURNAL   Handb Clin Neurol 147, 293-305 (2018)
   PUBMED   29325618
  REMARK    GeneRIF: This study showed that PANK2 genes account for disease of
            patients diagnosed with an Neurodegeneration with brain iron
            accumulation disorder.
            Review article
REFERENCE   4  (bases 1 to 4271)
  AUTHORS   Corbin,D.R., Rehg,J.E., Shepherd,D.L., Stoilov,P., Percifield,R.J.,
            Horner,L., Frase,S., Zhang,Y.M., Rock,C.O., Hollander,J.M.,
            Jackowski,S. and Leonardi,R.
  TITLE     Excess coenzyme A reduces skeletal muscle performance and strength
            in mice overexpressing human PANK2
  JOURNAL   Mol Genet Metab 120 (4), 350-362 (2017)
   PUBMED   28189602
REFERENCE   5  (bases 1 to 4271)
  AUTHORS   Brunetti,D., Dusi,S., Giordano,C., Lamperti,C., Morbin,M.,
            Fugnanesi,V., Marchet,S., Fagiolari,G., Sibon,O., Moggio,M.,
            d'Amati,G. and Tiranti,V.
  TITLE     Pantethine treatment is effective in recovering the disease
            phenotype induced by ketogenic diet in a pantothenate
            kinase-associated neurodegeneration mouse model
  JOURNAL   Brain 137 (Pt 1), 57-68 (2014)
   PUBMED   24316510
  REMARK    GeneRIF: Pank2(-/-) mice fed with a ketogenic diet developed a
            pantothenate kinase-associated neurodegeneration-like syndrome
REFERENCE   6  (bases 1 to 4271)
  AUTHORS   Osipovich,A.B., Singh,A. and Ruley,H.E.
  TITLE     Post-entrapment genome engineering: first exon size does not affect
            the expression of fusion transcripts generated by gene entrapment
  JOURNAL   Genome Res 15 (3), 428-435 (2005)
   PUBMED   15741512
REFERENCE   7  (bases 1 to 4271)
  AUTHORS   Kuo,Y.M., Duncan,J.L., Westaway,S.K., Yang,H., Nune,G., Xu,E.Y.,
            Hayflick,S.J. and Gitschier,J.
  TITLE     Deficiency of pantothenate kinase 2 (Pank2) in mice leads to
            retinal degeneration and azoospermia
  JOURNAL   Hum Mol Genet 14 (1), 49-57 (2005)
   PUBMED   15525657
REFERENCE   8  (bases 1 to 4271)
  AUTHORS   Johnson,M.A., Kuo,Y.M., Westaway,S.K., Parker,S.M., Ching,K.H.,
            Gitschier,J. and Hayflick,S.J.
  TITLE     Mitochondrial localization of human PANK2 and hypotheses of
            secondary iron accumulation in pantothenate kinase-associated
            neurodegeneration
  JOURNAL   Ann N Y Acad Sci 1012, 282-298 (2004)
   PUBMED   15105273
REFERENCE   9  (bases 1 to 4271)
  AUTHORS   Stryke,D., Kawamoto,M., Huang,C.C., Johns,S.J., King,L.A.,
            Harper,C.A., Meng,E.C., Lee,R.E., Yee,A., L'Italien,L.,
            Chuang,P.T., Young,S.G., Skarnes,W.C., Babbitt,P.C. and Ferrin,T.E.
  TITLE     BayGenomics: a resource of insertional mutations in mouse embryonic
            stem cells
  JOURNAL   Nucleic Acids Res 31 (1), 278-281 (2003)
   PUBMED   12520002
REFERENCE   10 (bases 1 to 4271)
  AUTHORS   Zhou,B., Westaway,S.K., Levinson,B., Johnson,M.A., Gitschier,J. and
            Hayflick,S.J.
  TITLE     A novel pantothenate kinase gene (PANK2) is defective in
            Hallervorden-Spatz syndrome
  JOURNAL   Nat Genet 28 (4), 345-349 (2001)
   PUBMED   11479594
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL808128.4.
            
            On Aug 22, 2020 this sequence version replaced NM_153501.2.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a). It uses a non-AUG translation start site (PMID: 15105273).
            
            CCDS Note: The coding region has been updated to extend the
            N-terminus to an upstream non-AUG initiation codon that is
            supported by available conservation data.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC106184.1, AK154080.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849375, SAMN00849377
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            non-AUG initiation codon           :: PMID: 15105273
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-321               AL808128.4         67765-68085
            322-674             AL808128.4         79181-79533
            675-928             AL808128.4         85427-85680
            929-1105            AL808128.4         87862-88038
            1106-1229           AL808128.4         92744-92867
            1230-1355           AL808128.4         98669-98794
            1356-4271           AL808128.4         101543-104458
FEATURES             Location/Qualifiers
     source          1..4271
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="2"
                     /map="2 63.31 cM"
     gene            1..4271
                     /gene="Pank2"
                     /gene_synonym="4933409I19Rik; hPanK2"
                     /note="pantothenate kinase 2"
                     /db_xref="GeneID:74450"
                     /db_xref="MGI:MGI:1921700"
     exon            1..321
                     /gene="Pank2"
                     /gene_synonym="4933409I19Rik; hPanK2"
                     /inference="alignment:Splign:2.1.0"
     CDS             36..1406
                     /gene="Pank2"
                     /gene_synonym="4933409I19Rik; hPanK2"
                     /EC_number="2.7.1.33"
                     /note="isoform a is encoded by transcript variant 1;
                     non-AUG (CUG) translation initiation codon; pantothenate
                     kinase 2 (Hallervorden-Spatz syndrome); pantothenic acid
                     kinase 2; pantothenate kinase 2, mitochondrial"
                     /codon_start=1
                     /product="pantothenate kinase 2, mitochondrial isoform a"
                     /protein_id="NP_705721.3"
                     /db_xref="CCDS:CCDS16761.1"
                     /db_xref="GeneID:74450"
                     /db_xref="MGI:MGI:1921700"
                     /translation="MGGWLGRQRRLLRMGAGRFGAPMERQGRAAATSAAVGESADSEA
                     RRRDPLRRRASSAAPSGSGEAESVRRERPGSLGGSTSAGRPRAEGLRKRRPLFPWFGL
                     DIGGTLVKLVYFEPKDITAEEEKEEVESLKSIRKYLTSNVAYGSTGIRDVHLELKDLT
                     LCGRKGNLHFIRFPTHDMPAFIQMGRDKNFSSLHTVFCATGGGSYKFEQDFLTIGDLQ
                     LRKLDELDCLIKGILYIDSVGFNGRSQCYYFENPADSEKCQKLPFDLKNPYPLLLVNI
                     GSGVSILAVYSKDNYKRVTGTSLGGGTFFGLCCLLTGCSTFEEALEMASRGDSTKVDK
                     LVRDIYGGDYERFGLPGWAVASSFGNMMSKEKREAASKEDLARATLITITNNIGSIAR
                     MCALNENINQVVFVGNFLRVNTIAMRLLAYALDYWSKGQLKALFSEHEGYFGAVGALL
                     ELLKIP"
     exon            322..674
                     /gene="Pank2"
                     /gene_synonym="4933409I19Rik; hPanK2"
                     /inference="alignment:Splign:2.1.0"
     exon            675..928
                     /gene="Pank2"
                     /gene_synonym="4933409I19Rik; hPanK2"
                     /inference="alignment:Splign:2.1.0"
     exon            929..1105
                     /gene="Pank2"
                     /gene_synonym="4933409I19Rik; hPanK2"
                     /inference="alignment:Splign:2.1.0"
     exon            1106..1229
                     /gene="Pank2"
                     /gene_synonym="4933409I19Rik; hPanK2"
                     /inference="alignment:Splign:2.1.0"
     exon            1230..1355
                     /gene="Pank2"
                     /gene_synonym="4933409I19Rik; hPanK2"
                     /inference="alignment:Splign:2.1.0"
     exon            1356..4271
                     /gene="Pank2"
                     /gene_synonym="4933409I19Rik; hPanK2"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1775
                     /gene="Pank2"
                     /gene_synonym="4933409I19Rik; hPanK2"
                     /note="major polyA site"
     regulatory      2666..2671
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Pank2"
                     /gene_synonym="4933409I19Rik; hPanK2"
                     /note="hexamer: AGTAAA"
     polyA_site      2686
                     /gene="Pank2"
                     /gene_synonym="4933409I19Rik; hPanK2"
     regulatory      4248..4253
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Pank2"
                     /gene_synonym="4933409I19Rik; hPanK2"
                     /note="hexamer: AATAAA"
     polyA_site      4271
                     /gene="Pank2"
                     /gene_synonym="4933409I19Rik; hPanK2"
ORIGIN      
        1 gctccagcgg gctgcgcgga ggcggcaagg cggcgctggg gggctggctc gggcggcagc
       61 ggcggctgtt gcggatggga gcgggccggt ttggcgcgcc tatggagcgc cagggcaggg
      121 ctgccgccac ctcagccgcg gtcggcgagt ctgcggactc ggaagcgcgg aggcgggacc
      181 cgctgaggcg ccgggcgagt agcgcggcgc cgtcggggtc cggggaggcg gagagtgtga
      241 gacgggagcg gcccggctct ctaggcggct ccacctcggc cggccgcccg cgcgccgaag
      301 gcctccggaa gaggcggccg ctttttccat ggtttggctt ggatattgga ggaaccttgg
      361 tcaagctggt ttattttgaa cctaaagaca tcactgctga agaagaaaag gaggaagtgg
      421 agagtctgaa aagcatccgg aagtacctga cctccaatgt ggcttacgga tccacaggca
      481 ttcgggacgt gcaccttgag ctgaaggacc tgactctgtg tggacgcaaa ggcaatctgc
      541 actttatacg ctttcccacc catgacatgc ctgcttttat tcagatgggc agagataaaa
      601 acttctcaag tctccacact gtcttttgtg ccactggagg tggatcatac aaatttgagc
      661 aggattttct cacaataggt gaccttcagc ttcgaaaact ggatgaacta gattgcttaa
      721 taaaaggaat tttatacatt gactcagttg gattcaatgg acggtcacag tgctattatt
      781 ttgaaaaccc tgctgattct gaaaaatgtc agaagttacc atttgattta aaaaatccat
      841 atcctctgct tctggtgaac atcggctcag gggttagcat cttagcagtg tattccaaag
      901 ataattataa gagggtcaca ggcaccagtc ttggaggagg aactttcttt ggtctctgct
      961 gtcttcttac tggctgtagt acttttgaag aagctcttga gatggcatct cgtggagata
     1021 gcaccaaagt ggacaaatta gttcgagaca tttatggagg agactatgag aggtttggct
     1081 tgccaggctg ggctgtggct tcaagttttg gaaacatgat gagcaaggag aagagagagg
     1141 cggccagtaa ggaggatctt gccagagcaa ctttgatcac catcaccaac aacattggct
     1201 ccatagcaag aatgtgtgcc cttaatgaaa acattaacca ggtcgtattt gtcggcaatt
     1261 tcctgagagt caacacgatt gctatgcggc ttctggcgta tgcgctggat tactggtcca
     1321 aggggcagct gaaagcactg ttttccgagc acgagggata ttttggagcc gttggagcac
     1381 tcctcgagct gttgaagata ccctgactta ccgagaggac ttcctgaaac ctgccacaga
     1441 gacatctgtg gatttttttg ttttgttttg ttaagagact caagttttat gatcgtgtac
     1501 tactcaaatc agagcaagaa acaaatgtat ttttctaaga catcaagata aattcttaaa
     1561 attttgtcta aggacacccc atcccacccc cgtctaggca gtatgaggat ttgctgttta
     1621 tagggtattc tcagggcagc gttattaacc cctgaggtgc tttggaatcc cagcatcacc
     1681 cacttgggca tacgtggagc tttctggact cccaccagca gctgactgct tgtcctgttg
     1741 aaatgtatgt gagaatctaa ccgctttcat cagtatgcct tggaggtcat ctttctttgc
     1801 gcgctggatc atgtttagcc tatgttaaca tactgaaaat gggttatttc aagcttctga
     1861 aaacttggca ggattgttct gcatctgatg ttaagagatg gcctgcattg tagctgaagg
     1921 caagggtggg cctgttcaca gcagccttgg agctggaatg gagacctcga gctctggctg
     1981 ggaaggattc tgccattcag ccatgggttc tggtgccagc tctggggcaa cagaaggctc
     2041 ttgttggttt ggactatggg aactaggatt ggatttggct ggctagcctg cttgatggtt
     2101 ctcagttccc acagggatat agttggcttt tattacatac tttggcccat taggactaag
     2161 ggttccattg tgctggcagc acagtacacg gggtgttgca gggatggtag ttttccctcc
     2221 tgctaatccc tgctttgctt ctgagagatc ctcaaaactg cacttttatt agaaagtttc
     2281 tccatctggg gcagggctgt gttcttccct gccatccctc aggtgactcc tatttgacag
     2341 ttgtgaccag tgctttgtat tcatggttct gtcttcctac attgaagctc ctcccacagt
     2401 gttagacgaa caagcctcag gatcacagag cccaacagga tgtgtggtgc tgttgtgacc
     2461 cacaccatca ctgtctattt ctttcctcag ttgtgctcag cccagggtca ttctggggat
     2521 gggttctatt tcctttaaat agtgtctcgg gtggtgaggg ctaacctcaa actcgacatt
     2581 aatactgtat agctgaggct ggcctttgaa ctgcagatct agttgccttc acctccgaag
     2641 tgctggatta taggtgtgcg ccactagtaa actccataaa tacaaagggt ttgtttcaga
     2701 gcctcatctt ttccagttct cacctgcttc cctggctgct gtctacactc tgacagttcc
     2761 actttcaagc tcaactgagt ctcgccaagc tgtcttcctg ttgattccag cactatttgc
     2821 agaaatacac acattccacc tcacaaccac ttctgaactg ggagccactt gcagtgtctg
     2881 ttagaaccat cttgtctttt cttagctgtc caatccaggt cattgttttg atagcctaaa
     2941 gctccacttc acttctccca ctcagaaagg aaggtttgtg gccctggagc acaaagtagc
     3001 ttgaactaag atgggaggag gctggcctac gcaaagaggt aatgtcttgt gggcatcagt
     3061 ggctgggtct agggggtgct tgaagatacc tagtttggtt ttagaacgcc tggttttgag
     3121 aacccctaaa gcacgggtca tttgggtcag agacaacgca gaggatgtat ttatttgtgg
     3181 gaggagttag tgaaccccag agcacaagaa aataataata atcggcagtg aaggagcagg
     3241 ttacagggaa aacaacctgg ggtacaggga tccgggagtc caagagcaaa cggttataga
     3301 gatgggttac aaggttgctt ggaggtagct ccagggttac gtgtgccttg gtgaagccat
     3361 gggctaaagc tgagttcaga gccgctcacc acctggcatt agggttaggg caagttctgg
     3421 gaatgtggca gactgtcaaa ggacaaagct atatacatca agccaccaca aatgcaatgc
     3481 atggtgtggt gtggcctgat gcctttcccc catcagtgtg ccacacctta cctcgcccta
     3541 gtgcaaaagt tgacaggtcc aaatacaaag tatttcaaaa tttgctcttt atttacacgt
     3601 ttgggtcgat tacatgcatg ttttattttt aaacaagtga ttagcaaaaa atgcattaaa
     3661 gttttaaaat agcaattaaa tatacaaaaa tatagcttac aaaaaccaat gtttaaaaat
     3721 attctgctgc agaattctta gtgtacaaac acgtctatga aacctgaggc tcagcatttc
     3781 ataaaccttt tttgagggag ttatatctag taaataagcc ccatagggct aaacgacaag
     3841 actaaagtgc cattcctcca ccttcctgga catgtcctca gacagaggca atggccccaa
     3901 gccgtcacat tctccaccac agcctggaag gagaggcatg gacggcgctg agggttcaac
     3961 cacatgagtc ccttaacact ggtgaggtca tgatctgagc tacagcgtgt ctttgaaaca
     4021 gcaggggtag cttttcctga tcctgtgaac aaaggaacga agaatttgga tacgtgctga
     4081 gctaactgga ataaaagcat cttgaaataa tttgggttct aaagctgaac ttgaaaactg
     4141 ataggtcctg ttaatcttat ttaaaaaacc tttacctggc attttaggtc cctacctcta
     4201 agattaagtt aaatactttg atggtcccat ttaagcaatt ttttaaaaat aaaaatttat
     4261 ttttatgtgt a
//
