LOCUS       NM_001081151            3454 bp    mRNA    linear   ROD 06-JUN-2024
DEFINITION  Mus musculus giant axonal neuropathy (Gan), mRNA.
ACCESSION   NM_001081151 XM_146539
VERSION     NM_001081151.2
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 3454)
  AUTHORS   Nath,B. and Julien,J.P.
  TITLE     A New Mouse Model of Giant Axonal Neuropathy with Overt Phenotypes
            and Neurodegeneration Driven by Neurofilament Disorganization
  JOURNAL   J Neurosci 43 (22), 4174-4189 (2023)
   PUBMED   37137704
REFERENCE   2  (bases 1 to 3454)
  AUTHORS   Scrivo,A., Codogno,P. and Bomont,P.
  TITLE     Gigaxonin E3 ligase governs ATG16L1 turnover to control
            autophagosome production
  JOURNAL   Nat Commun 10 (1), 780 (2019)
   PUBMED   30770803
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3454)
  AUTHORS   Israeli,E., Dryanovski,D.I., Schumacker,P.T., Chandel,N.S.,
            Singer,J.D., Julien,J.P., Goldman,R.D. and Opal,P.
  TITLE     Intermediate filament aggregates cause mitochondrial dysmotility
            and increase energy demands in giant axonal neuropathy
  JOURNAL   Hum Mol Genet 25 (11), 2143-2157 (2016)
   PUBMED   27000625
  REMARK    GeneRIF: We demonstrate that gigaxonin is crucial for
            ubiquitin-proteasomal degradation of neuronal Intermediate
            filaments. Moreover,Intermediate filaments accumulation impairs
            mitochondrial motility and is associated with metabolic and
            oxidative stress
REFERENCE   4  (bases 1 to 3454)
  AUTHORS   Mahammad,S., Murthy,S.N., Didonna,A., Grin,B., Israeli,E.,
            Perrot,R., Bomont,P., Julien,J.P., Kuczmarski,E., Opal,P. and
            Goldman,R.D.
  TITLE     Giant axonal neuropathy-associated gigaxonin mutations impair
            intermediate filament protein degradation
  JOURNAL   J Clin Invest 123 (5), 1964-1975 (2013)
   PUBMED   23585478
  REMARK    GeneRIF: gigaxonin is a major factor in the degradation of
            cytoskeletal intermediate filaments
REFERENCE   5  (bases 1 to 3454)
  AUTHORS   Ganay,T., Boizot,A., Burrer,R., Chauvin,J.P. and Bomont,P.
  TITLE     Sensory-motor deficits and neurofilament disorganization in
            gigaxonin-null mice
  JOURNAL   Mol Neurodegener 6, 25 (2011)
   PUBMED   21486449
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3454)
  AUTHORS   Ding,J., Allen,E., Wang,W., Valle,A., Wu,C., Nardine,T., Cui,B.,
            Yi,J., Taylor,A., Jeon,N.L., Chu,S., So,Y., Vogel,H., Tolwani,R.,
            Mobley,W. and Yang,Y.
  TITLE     Gene targeting of GAN in mouse causes a toxic accumulation of
            microtubule-associated protein 8 and impaired retrograde axonal
            transport
  JOURNAL   Hum Mol Genet 15 (9), 1451-1463 (2006)
   PUBMED   16565160
  REMARK    GeneRIF: Disruption of gigaxonin results in an impaired
            ubiquitin-proteasome system leading to a substantial accumulation
            of toxic microtubule-associated protein MAP8 in the null mutants.
REFERENCE   7  (bases 1 to 3454)
  AUTHORS   Wang,W., Ding,J., Allen,E., Zhu,P., Zhang,L., Vogel,H. and Yang,Y.
  TITLE     Gigaxonin interacts with tubulin folding cofactor B and controls
            its degradation through the ubiquitin-proteasome pathway
  JOURNAL   Curr Biol 15 (22), 2050-2055 (2005)
   PUBMED   16303566
REFERENCE   8  (bases 1 to 3454)
  AUTHORS   Allen,E., Ding,J., Wang,W., Pramanik,S., Chou,J., Yau,V. and
            Yang,Y.
  TITLE     Gigaxonin-controlled degradation of MAP1B light chain is critical
            to neuronal survival
  JOURNAL   Nature 438 (7065), 224-228 (2005)
   PUBMED   16227972
  REMARK    GeneRIF: results identify gigaxonin as a ubiquitin scaffolding
            protein that controls MAP1B-LC degradation, and provide insight
            into the molecular mechanisms underlying human neurodegenerative
            disorders
REFERENCE   9  (bases 1 to 3454)
  AUTHORS   Ding,J., Liu,J.J., Kowal,A.S., Nardine,T., Bhattacharya,P., Lee,A.
            and Yang,Y.
  TITLE     Microtubule-associated protein 1B: a neuronal binding partner for
            gigaxonin
  JOURNAL   J Cell Biol 158 (3), 427-433 (2002)
   PUBMED   12147674
  REMARK    Erratum:[J Cell Biol. 2003 Oct 13;163(1):189]
REFERENCE   10 (bases 1 to 3454)
  AUTHORS   Bomont,P., Cavalier,L., Blondeau,F., Ben Hamida,C., Belal,S.,
            Tazir,M., Demir,E., Topaloglu,H., Korinthenberg,R., Tuysuz,B.,
            Landrieu,P., Hentati,F. and Koenig,M.
  TITLE     The gene encoding gigaxonin, a new member of the cytoskeletal
            BTB/kelch repeat family, is mutated in giant axonal neuropathy
  JOURNAL   Nat Genet 26 (3), 370-374 (2000)
   PUBMED   11062483
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC121116.7.
            
            On Jun 15, 2018 this sequence version replaced NM_001081151.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: AK039455.1, BC112432.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-321               AC121116.7         167192-167512       c
            322-436             AC121116.7         141878-141992       c
            437-787             AC121116.7         137996-138346       c
            788-1005            AC121116.7         135004-135221       c
            1006-1127           AC121116.7         134708-134829       c
            1128-1240           AC121116.7         132141-132253       c
            1241-1390           AC121116.7         131231-131380       c
            1391-1527           AC121116.7         129591-129727       c
            1528-1656           AC121116.7         128913-129041       c
            1657-1766           AC121116.7         121434-121543       c
            1767-3454           AC121116.7         119659-121346       c
FEATURES             Location/Qualifiers
     source          1..3454
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="8"
                     /map="8 63.71 cM"
     gene            1..3454
                     /gene="Gan"
                     /gene_synonym="A330045G18; gigaxonin"
                     /note="giant axonal neuropathy"
                     /db_xref="GeneID:209239"
                     /db_xref="MGI:MGI:1890619"
     exon            1..321
                     /gene="Gan"
                     /gene_synonym="A330045G18; gigaxonin"
                     /inference="alignment:Splign:2.1.0"
     CDS             155..1948
                     /gene="Gan"
                     /gene_synonym="A330045G18; gigaxonin"
                     /codon_start=1
                     /product="gigaxonin"
                     /protein_id="NP_001074620.1"
                     /db_xref="CCDS:CCDS40490.1"
                     /db_xref="GeneID:209239"
                     /db_xref="MGI:MGI:1890619"
                     /translation="MAEGSAVSDPQHAARLLRALSSFREEARFCDAHLVLDGEEIPVQ
                     KNILAAASPYIRTKLNYNPPKDDGSTYKIELEGISVMVMREILDYIFSGQIRLNEDTI
                     QDVVQAADLLLLTDLKTLCCEFLEGCIAAENCIGIRDFALHYCLHHVHYLATEYLETH
                     FRDVSSTEEFLELSPQKLKEVISLEKLNVGNERYVFEAVIRWIAHDVEMRKVHMKDVM
                     SALWVSGLDSSYLREQMLNEPLVREIVKECSNIPLSQPQQGEAMLASFKPRGYSECIV
                     TIGGEERVSRKPTAAMRCMCPLYDPNRQLWIELAPLSMPRINHGVLSAEGFLFVLGGQ
                     DENKQTLSSGEKYDPDANTWTALPPMHEARHNFGIVEIDGMLYILGGEDGDRELISME
                     CYDIYSKTWTKQPDLTMVRKIGCYAAMKKKIYAMGGGSYGKLFESVECYDPRTQQWTA
                     ICPLKERRFGAVACGVAMELYVFGGVRSREDIQGSEMVTCKSEFYHDEFKRWIYLNDQ
                     NLCIPASSSFVYGAVPIGASIYVIGDLDTGTNYDYVREFKRSTGTWHHTKPLLPSDLR
                     RTGCAALRIANCKLFRLQLQQGLFRIRVHSP"
     exon            322..436
                     /gene="Gan"
                     /gene_synonym="A330045G18; gigaxonin"
                     /inference="alignment:Splign:2.1.0"
     exon            437..787
                     /gene="Gan"
                     /gene_synonym="A330045G18; gigaxonin"
                     /inference="alignment:Splign:2.1.0"
     exon            788..1005
                     /gene="Gan"
                     /gene_synonym="A330045G18; gigaxonin"
                     /inference="alignment:Splign:2.1.0"
     exon            1006..1127
                     /gene="Gan"
                     /gene_synonym="A330045G18; gigaxonin"
                     /inference="alignment:Splign:2.1.0"
     exon            1128..1240
                     /gene="Gan"
                     /gene_synonym="A330045G18; gigaxonin"
                     /inference="alignment:Splign:2.1.0"
     exon            1241..1390
                     /gene="Gan"
                     /gene_synonym="A330045G18; gigaxonin"
                     /inference="alignment:Splign:2.1.0"
     exon            1391..1527
                     /gene="Gan"
                     /gene_synonym="A330045G18; gigaxonin"
                     /inference="alignment:Splign:2.1.0"
     exon            1528..1656
                     /gene="Gan"
                     /gene_synonym="A330045G18; gigaxonin"
                     /inference="alignment:Splign:2.1.0"
     exon            1657..1766
                     /gene="Gan"
                     /gene_synonym="A330045G18; gigaxonin"
                     /inference="alignment:Splign:2.1.0"
     exon            1767..3454
                     /gene="Gan"
                     /gene_synonym="A330045G18; gigaxonin"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3020..3025
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Gan"
                     /gene_synonym="A330045G18; gigaxonin"
                     /note="hexamer: AATAAA"
     polyA_site      3039
                     /gene="Gan"
                     /gene_synonym="A330045G18; gigaxonin"
                     /note="major polyA site"
     polyA_site      3404
                     /gene="Gan"
                     /gene_synonym="A330045G18; gigaxonin"
ORIGIN      
        1 ggcgcaggcg cgttgttgaa cttccagctc tgactccaga gcttcactca gtccgggcgg
       61 gcgggcgagc ggacgcgagg agtggccggc ggggacgtgc gcgggactcg ggcgggcggg
      121 tcgggcaggt ggcggcggag gagcgggagg cgcgatggcc gagggcagcg ctgtgtccga
      181 ccctcagcac gccgcgcgcc tgctgcgggc gctcagctcg ttccgggagg aggcgcgttt
      241 ctgcgacgcg catctggtcc tcgacggcga ggagatcccg gtgcagaaga acatcctggc
      301 ggcggccagc ccgtacatca ggacaaagtt aaactataat cctccaaaag atgacggatc
      361 cacttataag attgaacttg aagggatatc ggtaatggtg atgagagaga tcctggatta
      421 catcttcagt gggcagatca ggttaaatga agatacaatc caggatgttg tgcaggcagc
      481 cgacctgctg ctgctgacgg acctgaaaac gctgtgctgt gagttcctgg agggctgcat
      541 agcggcggag aactgcattg gcatccggga ctttgcgctg cactactgcc tgcaccacgt
      601 gcattacctg gccactgagt acctggagac ccacttccga gacgtcagca gcacagagga
      661 gttcctggag ctgagtccac agaaactcaa agaagtgatc tctctcgaga agctgaacgt
      721 tggcaacgag agatacgtgt tcgaggcagt gattcggtgg atagcacacg atgtagagat
      781 gagaaaggtc cacatgaagg atgtcatgtc agcgctgtgg gtctcggggc tggactccag
      841 ctacctgcgc gagcagatgc tgaatgaacc cttggtgcga gaaatcgtca aagagtgcag
      901 caacatcccg ctcagccagc cgcagcaggg ggaggccatg ctggccagct tcaagcccag
      961 gggctactca gagtgcatag tgaccatcgg aggggaggag agagtgtcac ggaaacccac
     1021 agcggccatg cgatgtatgt gccctctcta cgaccctaac cggcagctgt ggattgaact
     1081 ggctcctctg agcatgccga gaattaacca tggagttctt tcagcagaag gatttctgtt
     1141 tgtgttgggg ggccaagatg aaaacaagca gacgctgagc tcaggagaga agtatgaccc
     1201 agacgctaac acgtggactg cgctcccacc catgcatgag gcaagacaca actttgggat
     1261 cgtggagata gacgggatgc tctacatcct tggaggggag gatggcgatc gagagctcat
     1321 ttccatggag tgttatgata tttattccaa aacctggacg aagcagcccg acttgaccat
     1381 ggttaggaag attggctgct atgcagctat gaaaaagaaa atctatgcca tgggcggagg
     1441 ctcgtatgga aaactgtttg agtctgtgga gtgttacgac ccacggaccc agcaatggac
     1501 tgccatatgc ccactgaaag agaggaggtt tggagcagtg gcctgtggtg ttgccatgga
     1561 gctgtatgtg tttggaggcg tccgaagtcg agaggacatc cagggcagcg agatggtcac
     1621 ctgcaagtcc gagttctatc atgacgagtt taagaggtgg atctacctta acgatcagaa
     1681 cctatgcatc cctgccagct cctcctttgt ctacggagcg gtccccatag gagccagtat
     1741 ttatgttatc ggagacctgg acacaggtac caactacgac tacgtgcggg agtttaagag
     1801 aagcacgggc acctggcacc acacaaagcc actcctgcca tctgaccttc ggcgcacagg
     1861 ctgtgcagcc ctgcgcatag ccaactgcaa gctcttccgc ctgcagctgc aacaaggctt
     1921 gttccgcatc cgggtccatt ccccttgaag aggaagagga gccaaaagtg agatcctgcc
     1981 ccaagcgcat cccgtggctg gcggcggcaa gtgcagtgaa gcagccccat ctcgctgtgc
     2041 gctgggcttg agtgtggtta ctctctggtg gtttttttaa tgcttaggag ctcaggcttc
     2101 tgccctggtc tggagaccgt gtactgttga aaaactacct gcacggagtc ggttcctcca
     2161 gcctgatgcg tccgtaacca aggctagtga atgtcctagg aggagggtgt gggggttggt
     2221 gtcatgtgaa atatcaaagt taaaacccta aggtgcattt tcccagaagg gaactcttac
     2281 ctgactgact gcggagttcc agtgtgtgtg gctgtggtca acaaacaaca gaatccatat
     2341 atgcaagcca acatagccgg cgtacgaggt tgtccttgta ctgcgtgcgg aggggtagaa
     2401 tgcctggccc caccgagtaa ttgaggtttg cgcagttagt tcccacttat tactagtgct
     2461 ctgtcttaag actcttaaaa actatattct gatgaactga aactaagata aaactcctct
     2521 ctggcaacag tctaccttag tgaaggttca gtcacccgag gagctcaggt ccgaagcctg
     2581 tgtgtgagct taaaggaatt gttcaccggg aaagatcctg cgccaggccg agagagctct
     2641 ggggtggtgc tgtgagatcc gagggaggca taccgtaatt cctccttccc acctgagaag
     2701 cagagctgtt ttctaagctc caggctgcga gtgcaaagga gactttagac agagtcgggc
     2761 aaaggagagt tccactgcga ctaaaaacag taagacatat atttaaaaac aaaaacaaaa
     2821 actaaaaaca caactgtcta gggatcaaaa ggtctgcatc tgatctgtct tgaagcacgc
     2881 tcggtcctgt ttactgctgc gtagagctgc aagcttgtct ttgaatgcag gtgtgtgtgg
     2941 aattgggtct ttggaacagg ccgctcccac agcataggag tatagatgaa ctttgctcca
     3001 ggtaacgttt gactggtaga ataaactacc tcaacttaat tgtattctgt tcccattagt
     3061 acccaccccc cattccccat ctctcacccc caccttcacc ctctgctcca cttcccctta
     3121 gtaaaaagaa ttccttagtt agtgggattt atttcgtaag atattttgtt ttccatttag
     3181 attatggccc cttggtgtga aatgaggagc ttggcacact cggttatatc atagtgtgca
     3241 atatcaagtt tctagtcggc ttgatagaga tttcctcatt tctgttttct ttagatttct
     3301 ttctcttaga gatgagtgta agaggcaaca ttgtatcgta gtgactgcta actgtgtaca
     3361 tgcatcctct ggtcatgttg gagaacagga atctcttctc taaacttcct ccctgcgtga
     3421 gatgtttata tgcaattaaa gtgcgtgtaa gaca
//
