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

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, Dec 2024]
Expression: Ubiquitous expression in duodenum (RPKM 6.2), small intestine (RPKM 6.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

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_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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

D8S2279 (e-PCR)
- UniSTS:473907

D11S3114 (e-PCR)
- UniSTS:152207

WI-21808 (e-PCR)
- UniSTS:66526

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)

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
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)
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
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

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

40807089..40815084

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017022684.3 → XP_016878173.1 abscission/NoCut checkpoint regulator isoform X2
XM_024450092.2 → XP_024305860.1 abscission/NoCut checkpoint regulator isoform X1

RNA

XR_931925.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060939.1 Alternate T2T-CHM13v2.0

Range

38613113..38621110

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054379009.1 → XP_054234984.1 abscission/NoCut checkpoint regulator isoform X2
XM_054379008.1 → XP_054234983.1 abscission/NoCut checkpoint regulator isoform X1