LOCUS       NM_018052               3096 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens VAC14 component of PIKFYVE complex (VAC14), transcript
            variant 1, mRNA.
ACCESSION   NM_018052 XM_936242
VERSION     NM_018052.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3096)
  AUTHORS   Wang,C.H., Wang,L.K., Wu,C.C., Chen,M.L., Kuo,C.Y., Shyu,R.Y. and
            Tsai,F.M.
  TITLE     TIG1 Inhibits the mTOR Signaling Pathway in Malignant Melanoma
            Through the VAC14 Protein
  JOURNAL   Anticancer Res 43 (6), 2635-2643 (2023)
   PUBMED   37247911
  REMARK    GeneRIF: TIG1 Inhibits the mTOR Signaling Pathway in Malignant
            Melanoma Through the VAC14 Protein.
REFERENCE   2  (bases 1 to 3096)
  AUTHORS   Qiu,S., Lavallee-Adam,M. and Cote,M.
  TITLE     Proximity Interactome Map of the Vac14-Fig4 Complex Using BioID
  JOURNAL   J Proteome Res 20 (11), 4959-4973 (2021)
   PUBMED   34554760
  REMARK    GeneRIF: Proximity Interactome Map of the Vac14-Fig4 Complex Using
            BioID.
REFERENCE   3  (bases 1 to 3096)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 3096)
  AUTHORS   Baumann,H., Tunc,S., Gunther,A., Munchau,A., Lohmann,K. and
            Bruggemann,N.
  TITLE     Altered homodimer formation and increased iron accumulation in
            VAC14-related disease: Case report and review of the literature
  JOURNAL   Parkinsonism Relat Disord 80, 41-46 (2020)
   PUBMED   32949958
  REMARK    GeneRIF: Altered homodimer formation and increased iron
            accumulation in VAC14-related disease: Case report and review of
            the literature.
            Review article
REFERENCE   5  (bases 1 to 3096)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (bases 1 to 3096)
  AUTHORS   Sbrissa,D., Ikonomov,O.C., Fu,Z., Ijuin,T., Gruenberg,J.,
            Takenawa,T. and Shisheva,A.
  TITLE     Core protein machinery for mammalian phosphatidylinositol
            3,5-bisphosphate synthesis and turnover that regulates the
            progression of endosomal transport. Novel Sac phosphatase joins the
            ArPIKfyve-PIKfyve complex
  JOURNAL   J Biol Chem 282 (33), 23878-23891 (2007)
   PUBMED   17556371
  REMARK    GeneRIF: demonstrate a coupling between the machinery for
            PtdIns(3,5)P2 synthesis and turnover achieved through a physical
            assembly of PIKfyve, ArPIKfyve, and Sac3.
REFERENCE   7  (bases 1 to 3096)
  AUTHORS   Lemaire,J.F. and McPherson,P.S.
  TITLE     Binding of Vac14 to neuronal nitric oxide synthase:
            Characterisation of a new internal PDZ-recognition motif
  JOURNAL   FEBS Lett 580 (30), 6948-6954 (2006)
   PUBMED   17161399
  REMARK    GeneRIF: describe a novel interaction between the PDZ domain of
            nitric oxide synthase and Vac14
REFERENCE   8  (bases 1 to 3096)
  AUTHORS   Sbrissa,D., Ikonomov,O.C., Strakova,J., Dondapati,R., Mlak,K.,
            Deeb,R., Silver,R. and Shisheva,A.
  TITLE     A mammalian ortholog of Saccharomyces cerevisiae Vac14 that
            associates with and up-regulates PIKfyve phosphoinositide 5-kinase
            activity
  JOURNAL   Mol Cell Biol 24 (23), 10437-10447 (2004)
   PUBMED   15542851
  REMARK    GeneRIF: the PIKfyve-associated hVac14 protein has a major role in
            activating PIKfyve and thereby regulating PtdIns(3,5)P(2) synthesis
            and endomembrane homeostasis in mammalian cells
REFERENCE   9  (bases 1 to 3096)
  AUTHORS   Davy,B.E. and Robinson,M.L.
  TITLE     Congenital hydrocephalus in hy3 mice is caused by a frameshift
            mutation in Hydin, a large novel gene
  JOURNAL   Hum Mol Genet 12 (10), 1163-1170 (2003)
   PUBMED   12719380
REFERENCE   10 (bases 1 to 3096)
  AUTHORS   Mireskandari,A., Reid,R.L., Kashanchi,F., Dittmer,J., Li,W.B. and
            Brady,J.N.
  TITLE     Isolation of a cDNA clone, TRX encoding a human T-cell
            lymphotrophic virus type-I Tax1 binding protein
  JOURNAL   Biochim Biophys Acta 1306 (1), 9-13 (1996)
   PUBMED   8611628
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK056433.1 and AL137396.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_018052.4.
            
            Summary: This gene encodes a scaffold protein that is a component
            of the PIKfyve protein kinase complex. This complex is responsible
            for the synthesis of phosphatidylinositol 3,5-bisphosphate, an
            important component of cellular membranes, from
            phosphatidylinositol 3-phosphate. Mice lacking a functional copy of
            this gene exhibit severe neurodegeneration. Mutations in the human
            gene have been identified in patients with a childhood onset
            progressive neurological disorder characterized by impaired
            movement, dystonia, and striatal abnormalities. [provided by
            RefSeq, May 2017].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: SRR3476690.756146.1, AK056433.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261776.10/ ENSP00000261776.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3094              AK056433.1         11-3104
            3095-3096           AL137396.1         884-885
FEATURES             Location/Qualifiers
     source          1..3096
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1-q22.2"
     gene            1..3096
                     /gene="VAC14"
                     /gene_synonym="ArPIKfyve; TAX1BP2; TRX"
                     /note="VAC14 component of PIKFYVE complex"
                     /db_xref="GeneID:55697"
                     /db_xref="HGNC:HGNC:25507"
                     /db_xref="MIM:604632"
     exon            1..362
                     /gene="VAC14"
                     /gene_synonym="ArPIKfyve; TAX1BP2; TRX"
                     /inference="alignment:Splign:2.1.0"
     CDS             259..2607
                     /gene="VAC14"
                     /gene_synonym="ArPIKfyve; TAX1BP2; TRX"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein VAC14 homolog; Vac14, PIKFYVE complex component"
                     /codon_start=1
                     /product="protein VAC14 homolog isoform 1"
                     /protein_id="NP_060522.3"
                     /db_xref="CCDS:CCDS10896.1"
                     /db_xref="GeneID:55697"
                     /db_xref="HGNC:HGNC:25507"
                     /db_xref="MIM:604632"
                     /translation="MNPEKDFAPLTPNIVRALNDKLYEKRKVAALEIEKLVREFVAQN
                     NTVQIKHVIQTLSQEFALSQHPHSRKGGLIGLAACSIALGKDSGLYLKELIEPVLTCF
                     NDADSRLRYYACEALYNIVKVARGAVLPHFNVLFDGLSKLAADPDPNVKSGSELLDRL
                     LKDIVTESNKFDLVSFIPLLRERIYSNNQYARQFIISWILVLESVPDINLLDYLPEIL
                     DGLFQILGDNGKEIRKMCEVVLGEFLKEIKKNPSSVKFAEMANILVIHCQTTDDLIQL
                     TAMCWMREFIQLAGRVMLPYSSGILTAVLPCLAYDDRKKSIKEVANVCNQSLMKLVTP
                     EDDELDELRPGQRQAEPTPDDALPKQEGTASGGPDGSCDSSFSSGISVFTAASTERAP
                     VTLHLDGIVQVLNCHLSDTAIGMMTRIAVLKWLYHLYIKTPRKMFRHTDSLFPILLQT
                     LSDESDEVILKDLEVLAEIASSPAGQTDDPGPLDGPDLQASHSELQVPTPGRAGLLNT
                     SGTKGLECSPSTPTMNSYFYKFMINLLKRFSSERKLLEVRGPFIIRQLCLLLNAENIF
                     HSMADILLREEDLKFASTMVHALNTILLTSTELFQLRNQLKDLKTLESQNLFCCLYRS
                     WCHNPVTTVSLCFLTQNYRHAYDLIQKFGDLEVTVDFLAEVDKLVQLIECPIFTYLRL
                     QLLDVKNNPYLIKALYGLLMLLPQSSAFQLLSHRLQCVPNPELLQTEDSLKAAPKSQK
                     ADSPSIDYAELLQHFEKVQNKHLEVRHQRSGRGDHLDRRVVL"
     exon            363..513
                     /gene="VAC14"
                     /gene_synonym="ArPIKfyve; TAX1BP2; TRX"
                     /inference="alignment:Splign:2.1.0"
     exon            514..681
                     /gene="VAC14"
                     /gene_synonym="ArPIKfyve; TAX1BP2; TRX"
                     /inference="alignment:Splign:2.1.0"
     exon            682..744
                     /gene="VAC14"
                     /gene_synonym="ArPIKfyve; TAX1BP2; TRX"
                     /inference="alignment:Splign:2.1.0"
     exon            745..852
                     /gene="VAC14"
                     /gene_synonym="ArPIKfyve; TAX1BP2; TRX"
                     /inference="alignment:Splign:2.1.0"
     exon            853..962
                     /gene="VAC14"
                     /gene_synonym="ArPIKfyve; TAX1BP2; TRX"
                     /inference="alignment:Splign:2.1.0"
     exon            963..1069
                     /gene="VAC14"
                     /gene_synonym="ArPIKfyve; TAX1BP2; TRX"
                     /inference="alignment:Splign:2.1.0"
     exon            1070..1204
                     /gene="VAC14"
                     /gene_synonym="ArPIKfyve; TAX1BP2; TRX"
                     /inference="alignment:Splign:2.1.0"
     exon            1205..1354
                     /gene="VAC14"
                     /gene_synonym="ArPIKfyve; TAX1BP2; TRX"
                     /inference="alignment:Splign:2.1.0"
     exon            1355..1418
                     /gene="VAC14"
                     /gene_synonym="ArPIKfyve; TAX1BP2; TRX"
                     /inference="alignment:Splign:2.1.0"
     exon            1419..1563
                     /gene="VAC14"
                     /gene_synonym="ArPIKfyve; TAX1BP2; TRX"
                     /inference="alignment:Splign:2.1.0"
     exon            1564..1629
                     /gene="VAC14"
                     /gene_synonym="ArPIKfyve; TAX1BP2; TRX"
                     /inference="alignment:Splign:2.1.0"
     exon            1630..1786
                     /gene="VAC14"
                     /gene_synonym="ArPIKfyve; TAX1BP2; TRX"
                     /inference="alignment:Splign:2.1.0"
     exon            1787..1919
                     /gene="VAC14"
                     /gene_synonym="ArPIKfyve; TAX1BP2; TRX"
                     /inference="alignment:Splign:2.1.0"
     exon            1920..2094
                     /gene="VAC14"
                     /gene_synonym="ArPIKfyve; TAX1BP2; TRX"
                     /inference="alignment:Splign:2.1.0"
     exon            2095..2213
                     /gene="VAC14"
                     /gene_synonym="ArPIKfyve; TAX1BP2; TRX"
                     /inference="alignment:Splign:2.1.0"
     exon            2214..2293
                     /gene="VAC14"
                     /gene_synonym="ArPIKfyve; TAX1BP2; TRX"
                     /inference="alignment:Splign:2.1.0"
     exon            2294..2444
                     /gene="VAC14"
                     /gene_synonym="ArPIKfyve; TAX1BP2; TRX"
                     /inference="alignment:Splign:2.1.0"
     exon            2445..3096
                     /gene="VAC14"
                     /gene_synonym="ArPIKfyve; TAX1BP2; TRX"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3074..3079
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VAC14"
                     /gene_synonym="ArPIKfyve; TAX1BP2; TRX"
                     /note="hexamer: AAGAAA"
     polyA_site      3096
                     /gene="VAC14"
                     /gene_synonym="ArPIKfyve; TAX1BP2; TRX"
                     /note="major polyA site"
ORIGIN      
        1 gactcgagta acatggccgc tgtctcgtga gtcccgctag tgccgggcgg gagttgttaa
       61 gcggccaggg tcaggtgtgc tggagcgggg tccgggcccg ggttccaggg cgaggcggcg
      121 gagcgtggca ggcaagccta gagcggcgtg gtccatgcgc cggcgccggg ggcagagcgg
      181 agccgcagac tcccctggcc ccggcgcggc cccggcagcc gcgggctaag gagtcgcgag
      241 gttcccccag ctgccaccat gaaccccgag aaggatttcg cgccgctcac gcctaacatc
      301 gtgcgcgccc tcaatgacaa gctgtacgaa aagcggaagg tggcagcgct ggagatcgag
      361 aagctggtcc gggagttcgt ggcccagaac aataccgtgc aaatcaagca tgtgatccag
      421 accctgtccc aggagtttgc cctgtctcag cacccccaca gccggaaagg gggcctcatc
      481 ggcctggccg cctgctccat cgcactgggc aaggactcag ggctctacct gaaggagctg
      541 atcgagccag tgctgacctg cttcaatgat gcagacagca ggctgcgcta ctatgcctgc
      601 gaggccctct acaacatcgt caaggtggcc cggggcgctg tgctgcccca cttcaacgtg
      661 ctctttgacg ggctgagcaa gctggcagcc gacccagacc ccaatgtgaa aagcggatct
      721 gagctcctag accgcctttt aaaggacatt gtgactgaga gcaacaagtt tgacctggtg
      781 agcttcatcc ccttgttgcg agagaggatt tactccaaca accagtatgc ccggcagttc
      841 atcatctcct ggatcctggt tctggagtcg gtgccagaca ttaacctgct ggattacctg
      901 ccggagatcc tggatggact cttccagatc ctgggtgaca atggcaaaga gattcgcaaa
      961 atgtgtgagg ttgttcttgg agaattctta aaagaaatta agaagaaccc ctccagtgtg
     1021 aagtttgctg agatggccaa catcctggtg atccactgcc agacaacaga tgacctcatc
     1081 cagctgacag ccatgtgctg gatgcgggag ttcatccagc tggcgggccg cgtcatgctg
     1141 ccttactcct ccgggatcct gactgctgtc ttgccctgct tggcctacga tgaccgcaag
     1201 aaaagcatca aagaagtggc caacgtgtgc aaccagagcc tgatgaagct ggtcaccccc
     1261 gaggacgacg agctggatga gctgagacct gggcagaggc aggcagagcc cacccctgac
     1321 gatgccctgc caaagcagga gggcacagcc agtggaggtc cagatggttc ctgtgactcc
     1381 agcttcagta gcggcatcag tgtcttcact gcagccagca ctgaaagagc cccagtgacc
     1441 cttcacctcg acgggatcgt gcaggtccta aactgccacc tcagtgacac ggccattggg
     1501 atgatgacca ggattgcagt tctcaagtgg ctctaccacc tctacatcaa aactcctcgg
     1561 aagatgttcc ggcacacgga cagcctcttt cccatcctac tgcagacgtt atcggatgaa
     1621 tcggatgagg tgatcctgaa ggacctggag gtgctggcag aaatcgcttc ctcccccgca
     1681 ggccagacgg atgacccagg ccccctcgat ggccctgacc tccaggccag ccactcagag
     1741 ctccaggtgc ccacccctgg cagagccggc ctactgaaca cctctggtac caaaggctta
     1801 gaatgttctc cttcaactcc caccatgaat tcttactttt ataagttcat gatcaacctt
     1861 ctcaagagat tcagcagcga acggaagctc ctggaggtca gaggcccttt catcatcagg
     1921 cagctgtgcc tcctgctgaa tgcggagaac atcttccact caatggcaga catcctgctg
     1981 cgggaggagg acctcaagtt cgcctcgacc atggtccacg ccctcaacac catcctgctg
     2041 acctccacag agctcttcca gctaaggaac cagctgaagg acctgaagac cctggagagc
     2101 cagaacctgt tctgctgcct gtaccgctcc tggtgccaca acccagtcac cacggtgtcc
     2161 ctctgcttcc tcacccagaa ctaccggcac gcctatgacc tcatccagaa gtttggggac
     2221 ctggaggtca ccgtggactt cctcgcagag gtggacaagc tggtgcagct gattgagtgc
     2281 cccatcttca catatctgcg cctgcagctg ctggacgtga agaacaaccc ctacctgatc
     2341 aaggccctct acggcctgct catgctcctg ccgcagagca gcgccttcca gctgctctcg
     2401 caccggctcc agtgcgtgcc caaccctgag ctgctgcaga ccgaagacag tctaaaggca
     2461 gcccccaagt cccagaaagc tgactcccct agcatcgact acgcagagct gctgcagcac
     2521 tttgagaagg tccagaacaa gcacctggaa gtgcggcacc agcggagcgg gcgtggggac
     2581 cacctggacc ggagggttgt cctctgacag gcctggcacg gaggagggcc caccgagtgg
     2641 tcccatgaaa cactaagggt cgtcacgccc tcccgaggag ctcaaggacc tgcctgtcag
     2701 gaccagggct gggcctgcca acccagggca gtgttggggc cggaggctgc tgtgtctgcc
     2761 caagctcctc tcagagtcca gtccccaggc ctccagcgct gtcagctgca ccctggcatt
     2821 ctcacagagc tggctgccca cccagtgggg ggctatagcc tcagagacca ctcatcctct
     2881 ggaatcaacc tctttctaat accctcttgg aaaaagagct tgcccctcct ccagcacact
     2941 agagctctgg ccttgtgtgt atatgtatac atacgtgaac acatgcctgt gtgtgtgtgt
     3001 gtgtgtgtgt acttgtatgc acgtaggcac cagcacaaag atctgaatga tgcaccccac
     3061 ccccacccca ataaagaaat aacagaaaac cctcaa
//
