LOCUS       NM_001077268            2775 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens zinc finger FYVE-type containing 19 (ZFYVE19),
            transcript variant 1, mRNA.
ACCESSION   NM_001077268
VERSION     NM_001077268.2
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 2775)
  AUTHORS   Yang,J., Zhang,Y.N., Wang,R.X., Hao,C.Z., Qiu,Y., Chi,H.,
            Luan,W.S., Tang,H., Zhang,X.J., Sun,X., Sheps,J.A., Ling,V., Cao,M.
            and Wang,J.S.
  TITLE     ZFYVE19 deficiency: a ciliopathy involving failure of cell
            division, with cell death
  JOURNAL   J Med Genet 61 (8), 750-758 (2024)
   PUBMED   38816193
  REMARK    GeneRIF: ZFYVE19 deficiency: a ciliopathy involving failure of cell
            division, with cell death.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2775)
  AUTHORS   Luan,W., Hao,C.Z., Li,J.Q., Wei,Q., Gong,J.Y., Qiu,Y.L., Lu,Y.,
            Shen,C.H., Xia,Q., Xie,X.B., Zhang,M.H., Abuduxikuer,K., Li,Z.D.,
            Wang,L., Xing,Q.H., Knisely,A.S. and Wang,J.S.
  TITLE     Biallelic loss-of-function ZFYVE19 mutations are associated with
            congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT
            cholestasis
  JOURNAL   J Med Genet 58 (8), 514-525 (2021)
   PUBMED   32737136
  REMARK    GeneRIF: Biallelic loss-of-function ZFYVE19 mutations are
            associated with congenital hepatic fibrosis, sclerosing
            cholangiopathy and high-GGT cholestasis.
REFERENCE   3  (bases 1 to 2775)
  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   4  (bases 1 to 2775)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 2775)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2775)
  AUTHORS   Thoresen,S.B., Campsteijn,C., Vietri,M., Schink,K.O., Liestol,K.,
            Andersen,J.S., Raiborg,C. and Stenmark,H.
  TITLE     ANCHR mediates Aurora-B-dependent abscission checkpoint control
            through retention of VPS4
  JOURNAL   Nat Cell Biol 16 (6), 550-560 (2014)
   PUBMED   24814515
  REMARK    GeneRIF: Propose that the abscission checkpoint is mediated by
            ANCHR and CHMP4C through retention of VPS4 at the midbody ring.
REFERENCE   7  (bases 1 to 2775)
  AUTHORS   Suter,B., Fontaine,J.F., Yildirimman,R., Rasko,T., Schaefer,M.H.,
            Rasche,A., Porras,P., Vazquez-Alvarez,B.M., Russ,J., Rau,K.,
            Foulle,R., Zenkner,M., Saar,K., Herwig,R., Andrade-Navarro,M.A. and
            Wanker,E.E.
  TITLE     Development and application of a DNA microarray-based yeast
            two-hybrid system
  JOURNAL   Nucleic Acids Res 41 (3), 1496-1507 (2013)
   PUBMED   23275563
REFERENCE   8  (bases 1 to 2775)
  AUTHORS   Kaltenbach,L.S., Romero,E., Becklin,R.R., Chettier,R., Bell,R.,
            Phansalkar,A., Strand,A., Torcassi,C., Savage,J., Hurlburt,A.,
            Cha,G.H., Ukani,L., Chepanoske,C.L., Zhen,Y., Sahasrabudhe,S.,
            Olson,J., Kurschner,C., Ellerby,L.M., Peltier,J.M., Botas,J. and
            Hughes,R.E.
  TITLE     Huntingtin interacting proteins are genetic modifiers of
            neurodegeneration
  JOURNAL   PLoS Genet 3 (5), e82 (2007)
   PUBMED   17500595
REFERENCE   9  (bases 1 to 2775)
  AUTHORS   Girard,A., Sachidanandam,R., Hannon,G.J. and Carmell,M.A.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   10 (bases 1 to 2775)
  AUTHORS   Chinwalla,V., Chien,A., Odero,M., Neilly,M.B., Zeleznik-Le,N.J. and
            Rowley,J.D.
  TITLE     A t(11;15) fuses MLL to two different genes, AF15q14 and a novel
            gene MPFYVE on chromosome 15
  JOURNAL   Oncogene 22 (9), 1400-1410 (2003)
   PUBMED   12618766
  REMARK    GeneRIF: In a transcript from a patient with AML-M2, MLL is fused
            to a novel gene: MLL partner containing FYVE domain (MPFYVE).
            MPFYVE is also located on chromosome 15, about 170 kb telomeric to
            AF15q14. MPFYVE contains the highly conserved FYVE domain. [MPFYVE]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA653225.1, DA611931.1, AK027746.1, BI860679.1, AF445414.1 and
            AC012476.8.
            
            On May 17, 2019 this sequence version replaced NM_001077268.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest 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 :: SRR7346977.1035349.1, BC015738.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000355341.8/ ENSP00000347498.4
            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
            1-62                DA653225.1         14-75
            63-557              DA611931.1         66-560
            558-1611            AK027746.1         3-1056
            1612-2135           BI860679.1         111-634
            2136-2260           AF445414.1         1661-1785
            2261-2775           AC012476.8         127918-128432
FEATURES             Location/Qualifiers
     source          1..2775
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q15.1"
     gene            1..2775
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /note="zinc finger FYVE-type containing 19"
                     /db_xref="GeneID:84936"
                     /db_xref="HGNC:HGNC:20758"
                     /db_xref="MIM:619635"
     exon            1..780
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /inference="alignment:Splign:2.1.0"
     CDS             502..1917
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /note="isoform 1 is encoded by transcript variant 1; zinc
                     finger FYVE domain-containing protein 19; MLL partner
                     containing FYVE domain; abscission/NoCut checkpoint
                     regulator; zinc finger, FYVE domain containing 19"
                     /codon_start=1
                     /product="abscission/NoCut checkpoint regulator isoform 1"
                     /protein_id="NP_001070736.1"
                     /db_xref="CCDS:CCDS42025.1"
                     /db_xref="GeneID:84936"
                     /db_xref="HGNC:HGNC:20758"
                     /db_xref="MIM:619635"
                     /translation="MNYDSQQPPLPPLPYAGCRRASGFPALGRGGTVPVGVWGGAGQG
                     REGRSWGEGPRGPGLGRRDLSSADPAVLGATMESRCYGCAVKFTLFKKEYGCKNCGRA
                     FCSGCLSFSAAVPRTGNTQQKVCKQCHEVLTRGSSANASKWSPPQNYKKRVAALEAKQ
                     KPSTSQSQGLTRQDQMIAERLARLRQENKPKLVPSQAEIEARLAALKDERQGSIPSTQ
                     EMEARLAALQGRVLPSQTPQPAHHTPDTRTQAQQTQDLLTQLAAEVAIDESWKGGGPA
                     ASLQNDLNQGGPGSTNSKRQANWSLEEEKSRLLAEAALELREENTRQERILALAKRLA
                     MLRGQDPERVTLQDYRLPDSDDDEDEETAIQRVLQQLTEEASLDEASGFNIPAEQASR
                     PWTQPRGAEPEAQDVDPRPEAEEEELPWCCICNEDATLRCAGCDGDLFCARCFREGHD
                     AFELKEHQTSAYSPPRAGQEH"
     exon            781..902
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /inference="alignment:Splign:2.1.0"
     exon            903..953
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /inference="alignment:Splign:2.1.0"
     exon            954..1072
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /inference="alignment:Splign:2.1.0"
     exon            1073..1218
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /inference="alignment:Splign:2.1.0"
     exon            1219..1327
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /inference="alignment:Splign:2.1.0"
     exon            1328..1531
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /inference="alignment:Splign:2.1.0"
     exon            1532..1611
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /inference="alignment:Splign:2.1.0"
     exon            1612..1710
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /inference="alignment:Splign:2.1.0"
     exon            1711..1838
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /inference="alignment:Splign:2.1.0"
     exon            1839..2775
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2237..2242
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /note="hexamer: AATAAA"
     polyA_site      2260
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /note="major polyA site"
     regulatory      2425..2430
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /note="hexamer: AGTAAA"
     polyA_site      2450
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
ORIGIN      
        1 gttccttgct gcctcgcccc gcggcctcta ggagacaggg gccacgggga gagcacagcc
       61 acccggcgcg aagagccctc tgtaccccgc ttcctcttga ggccctcgga ccgtccagga
      121 aatgtctggg agcccgcctg cggagggcat agcgccgacc ctcgctcccc gcccaggacc
      181 cgaatgaacc tggagagcgg atgccagcag tggccgaggc gctaggacag gaaggaccgc
      241 cagacctctc aagatcagcc ttcctcgcca ccgttctcac ctctttgtcc gctgccttct
      301 cctcaatgcc tagcagcgcg tacaggtcca tctgtaagag ctccttggtc actgccatgg
      361 ttccggcctg acggattcgt actacaactc ccaagagtct aagcgcgcgt gaggactgca
      421 ggctccgagc ggcgcctagc cctctgggaa ttgtgttctg ggtcaggctt gactgactct
      481 gagggaggcc ggcagtcgtg aatgaactac gactcccagc agcccccgtt gccgccgctg
      541 ccgtacgctg gctgcaggag agcgtccgga ttccctgctc taggtcgcgg cgggacagtg
      601 ccagtgggcg tgtggggcgg ggcagggcag ggaagggaag ggcggagctg gggtgagggt
      661 ccaaggggcc caggacttgg ccggcgtgat ctcagctctg cagaccctgc ggtgctggga
      721 gccaccatgg agagtaggtg ctacggctgc gctgtcaagt tcaccctctt caagaaggag
      781 tacggctgta agaattgtgg cagggccttc tgttcaggct gcctaagctt cagtgcagca
      841 gtgcctcgga ctgggaacac ccaacagaaa gtctgcaagc aatgccatga ggtcctgacc
      901 agagggtctt ctgccaatgc ctccaagtgg tcaccacctc agaactataa gaagcgtgtg
      961 gcagccttgg aagccaagca aaagcccagc acttcccaga gccagggact gacacgacaa
     1021 gaccagatga ttgctgagcg cctagcacga ctccgccagg agaacaagcc caagttagtc
     1081 ccctcacagg cagagataga ggcacggctg gctgccctaa aggatgaacg tcagggttcc
     1141 atcccttcca cccaggaaat ggaggcacga cttgcagcgt tgcagggcag agttctacct
     1201 tctcaaaccc cccagccggc acatcacaca ccggacacca ggacccaagc ccagcagaca
     1261 caggatctgc taacgcagct ggcagctgag gtggctatcg atgaaagctg gaaaggagga
     1321 ggcccagctg cctctctcca gaatgatctc aaccagggtg gcccagggag cactaattcc
     1381 aagaggcagg ccaactggtc cttggaggag gagaagagca gactgctggc tgaggcagca
     1441 cttgagttgc gggaggagaa cacgaggcag gaacggattc tggccctggc caagcgacta
     1501 gccatgctgc ggggacagga ccccgagaga gtgaccctcc aggactatcg cctcccagac
     1561 agtgatgacg acgaggatga ggagacagcc atccaaagag tcctgcagca gctcactgaa
     1621 gaagcttccc tggatgaggc aagtggcttt aacatccctg cagagcaggc ttctcgaccc
     1681 tggacgcaac cccgcggggc agagcctgag gcccaggatg tggaccccag gcctgaggct
     1741 gaggaagagg agctcccctg gtgctgcatc tgcaatgagg atgccaccct acgctgcgct
     1801 ggctgcgatg gggacctctt ctgtgcccgc tgcttccgag agggccatga tgcctttgag
     1861 cttaaagagc accagacatc tgcctactct cctccacgtg caggccaaga gcactgaaga
     1921 caccctggtc ctcccggaag ggcagtccca caggcagcgg cacccatttc tgggcccagc
     1981 cacaggacgt ccgatgggag agcttgtctg gctctactga tgatggatag gccccttcct
     2041 gagccttggt gtccctggaa tgaggaaaga ttctccattc gagagaatga ctgggaggga
     2101 agaagtcggg gccctcctat tagaagccca gactggaagt gagaggcatg atggggagag
     2161 accagactga atctacgggt gagccctgta acctggctct agggcacagg cccctcccct
     2221 ggcacttagt gggtctaata aagtatgttg attcattggg cccagcatct catttctaca
     2281 accctatgag cctgggccct gtgagaggtg gcaggaacag agcaggctgt aagcacagtt
     2341 gtggggaatg ggggaaaagg ttgagccatc ctatgaactt ctccaggcag gaacagccct
     2401 acccatcctg gtggcctcat acgaagtaaa catgtattca ttcaactcaa ctgtgctcca
     2461 gctctgggca gccccactta gccaccagtc cccaccatct tggatttctc agcctctcta
     2521 ctactcacac aatgcacgca ggaacaatgc acacacaccc tgcttcctgc cttactggca
     2581 aaggacccca gctcctaggg ctcctgtccc aacctgcctg ccattcagtc tcagtatctc
     2641 tcttccagta atgcgcccta accggacccc tgacctctcg gcatgtaccc tttacatgcc
     2701 tctgcattgc ctctgctgtt tctcttcctg cccctggctg gaaccaacta taaagagccc
     2761 tcgggctgag gtcta
//
