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    ZFYVE19 zinc finger FYVE-type containing 19 [ Homo sapiens (human) ]

    Gene ID: 84936, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ZFYVE19provided by HGNC
    Official Full Name
    zinc finger FYVE-type containing 19provided by HGNC
    Primary source
    HGNC:HGNC:20758
    See related
    Ensembl:ENSG00000166140 MIM:619635; AllianceGenome:HGNC:20758
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ANCHR; PFIC9; MPFYVE
    Summary
    Enables phosphatidylinositol-3-phosphate binding activity. Involved in abscission; mitotic cytokinesis checkpoint signaling; and negative regulation of cytokinesis. Located in centrosome; cleavage furrow; and midbody. Implicated in progressive familial intrahepatic cholestasis. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in duodenum (RPKM 6.2), small intestine (RPKM 6.1) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See ZFYVE19 in Genome Data Viewer
    Location:
    15q15.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (40807089..40815084)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (38613113..38621110)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (41099287..41107282)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:41055946-41056811 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:41057589-41058378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:41060839-41061457 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:41062076-41062694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:41062695-41063311 Neighboring gene DnaJ heat shock protein family (Hsp40) member C17 Neighboring gene GTP cyclohydrolase I feedback regulator Neighboring gene chromosome 15 open reading frame 62 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:41084513-41085712 Neighboring gene Sharpr-MPRA regulatory region 2594 Neighboring gene NANOG hESC enhancer GRCh37_chr15:41091921-41092462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9264 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9265 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9266 Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 14D Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:41117412-41117912 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:41117913-41118413 Neighboring gene Sharpr-MPRA regulatory region 7770 Neighboring gene SPINT1 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:41135684-41135866 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:41135819-41136390 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6344 Neighboring gene serine peptidase inhibitor, Kunitz type 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis. Luan W, et al. J Med Genet, 2021 Aug. PMID 32737136
    2. A t(11;15) fuses MLL to two different genes, AF15q14 and a novel gene MPFYVE on chromosome 15. Chinwalla V, et al. Oncogene, 2003 Mar 6. PMID 12618766
    3. ANCHR mediates Aurora-B-dependent abscission checkpoint control through retention of VPS4. Thoresen SB, et al. Nat Cell Biol, 2014 Jun. PMID 24814515
    4. ZFYVE19 deficiency: a ciliopathy involving failure of cell division, with cell death. Yang J, et al. J Med Genet, 2024 Jul 19. PMID 38816193, Free PMC Article
    5. Development and application of a DNA microarray-based yeast two-hybrid system. Suter B, et al. Nucleic Acids Res, 2013 Feb 1. PMID 23275563, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ZFYVE19 deficiency: a ciliopathy involving failure of cell division, with cell death.
      Title: ZFYVE19 deficiency: a ciliopathy involving failure of cell division, with cell death.
    2. Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis.
      Title: Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis.
    3. Propose that the abscission checkpoint is mediated by ANCHR and CHMP4C through retention of VPS4 at the midbody ring.
      Title: ANCHR mediates Aurora-B-dependent abscission checkpoint control through retention of VPS4.
    4. 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]
      Title: A t(11;15) fuses MLL to two different genes, AF15q14 and a novel gene MPFYVE on chromosome 15.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Cholestasis, progressive familial intrahepatic, 9
    MedGen: C5676973 OMIM: 619849 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ14840

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol-3-phosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol-3-phosphate binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in abscission IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in midbody abscission IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic cytokinesis checkpoint signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic cytokinesis checkpoint signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of cytokinesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Flemming body IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cleavage furrow IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cleavage furrow IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in midbody IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in midbody IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    abscission/NoCut checkpoint regulator
    Names
    MLL partner containing FYVE domain
    zinc finger FYVE domain-containing protein 19
    zinc finger, FYVE domain containing 19

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001077268.2 → NP_001070736.1  abscission/NoCut checkpoint regulator isoform 1

      See identical proteins and their annotated locations for NP_001070736.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC012476, AF445414, AK027746, BI860679, DA611931, DA653225
      Consensus CDS
      CCDS42025.1
      UniProtKB/Swiss-Prot
      B3KVB2, C9JNF4, H3BUF9, Q86WC2, Q8WU96, Q96K21
      UniProtKB/TrEMBL
      H3BRF9
      Related
      ENSP00000347498.4, ENST00000355341.8
      Conserved Domains (1) summary
      cd15749
      Location:79 → 129
      FYVE_ZFY19; FYVE-related domain found in FYVE domain-containing protein 19 (ZFY19) and similar proteins

    2. NM_001258420.2 → NP_001245349.1  abscission/NoCut checkpoint regulator isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC012476, AF445414, AK122779, BC015738, BC021092, BI860679, DB012963
      Consensus CDS
      CCDS58354.1
      UniProtKB/Swiss-Prot
      Q96K21
      Related
      ENSP00000299173.10, ENST00000299173.14
      Conserved Domains (2) summary
      cd15749
      Location:79 → 129
      FYVE_ZFY19; FYVE-related domain found in FYVE domain-containing protein 19 (ZFY19) and similar proteins
      pfam07956
      Location:153 → 231
      DUF1690; Protein of Unknown function (DUF1690)

    3. NM_001258421.2 → NP_001245350.1  abscission/NoCut checkpoint regulator isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC012476, AF445414, AK122779, BI860679
      Consensus CDS
      CCDS58355.1
      Related
      ENSP00000457617.1, ENST00000564258.5

    4. NM_032850.5 → NP_116239.3  abscission/NoCut checkpoint regulator isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC012476, AF445414, AK122779
      Consensus CDS
      CCDS58353.1
      UniProtKB/TrEMBL
      H3BRF9
      Related
      ENSP00000337824.5, ENST00000336455.9
      Conserved Domains (1) summary
      cd15749
      Location:81 → 119
      FYVE_ZFY19; FYVE-related domain found in FYVE domain-containing protein 19 (ZFY19) and similar proteins

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      40807089..40815084
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017022684.3 → XP_016878173.1  abscission/NoCut checkpoint regulator isoform X2

    2. XM_024450092.2 → XP_024305860.1  abscission/NoCut checkpoint regulator isoform X1

    RNA

    1. XR_931925.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      38613113..38621110
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379009.1 → XP_054234984.1  abscission/NoCut checkpoint regulator isoform X2

    2. XM_054379008.1 → XP_054234983.1  abscission/NoCut checkpoint regulator isoform X1

    RNA

    1. XR_008489025.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96K21.3 GenPept UniProtKB/Swiss-Prot:Q96K21

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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