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

Gene ID: 84936, updated on 27-Nov-2024

Summary

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, Nov 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

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

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_001077268.2NP_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:79129
    FYVE_ZFY19; FYVE-related domain found in FYVE domain-containing protein 19 (ZFY19) and similar proteins
  2. NM_001258420.2NP_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:79129
    FYVE_ZFY19; FYVE-related domain found in FYVE domain-containing protein 19 (ZFY19) and similar proteins
    pfam07956
    Location:153231
    DUF1690; Protein of Unknown function (DUF1690)
  3. NM_001258421.2NP_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_032850.5NP_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:81119
    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_017022684.3XP_016878173.1  abscission/NoCut checkpoint regulator isoform X2

  2. XM_024450092.2XP_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_054379009.1XP_054234984.1  abscission/NoCut checkpoint regulator isoform X2

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

RNA

  1. XR_008489025.1 RNA Sequence