ZFYVE1 zinc finger FYVE-type containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZFYVE1provided by HGNC
Official Full Name: zinc finger FYVE-type containing 1provided by HGNC
Primary source: HGNC:HGNC:13180
See related: Ensembl:ENSG00000165861 MIM:605471; AllianceGenome:HGNC:13180
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SR3; DFCP1; TAFF1; ZNFN2A1; PPP1R172
Summary: The FYVE domain mediates the recruitment of proteins involved in membrane trafficking and cell signaling to phosphatidylinositol 3-phosphate-containing membranes. This protein contains two zinc-binding FYVE domains in tandem and is reported to localize to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Expression: Ubiquitous expression in thyroid (RPKM 7.4), kidney (RPKM 6.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q24.2

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (72969445..73027106, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (67175059..67232660, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (73436153..73493814, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Study reveals that fusion of DFCP1-labeled nascent structures contributes to initial LD growth and that the DFCP1-Rab18 complex is involved in tethering the ER-LD contact for LD expansion.
Title: The ER-Localized Protein DFCP1 Modulates ER-Lipid Droplet Contact Formation.

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

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

G38161 (e-PCR)
- UniSTS:79379

D14S1270 (e-PCR)
- UniSTS:154644

G38191 (e-PCR)
- UniSTS:15381

G38241 (e-PCR)
- UniSTS:73793

G35458 (e-PCR)
- UniSTS:70217

G38233 (e-PCR)
- UniSTS:4972

G38325 (e-PCR)
- UniSTS:32634

G35785 (e-PCR)
- UniSTS:15749

RH26227 (e-PCR)
- UniSTS:89237

G38147 (e-PCR)
- UniSTS:1434

G63597 (e-PCR)
- UniSTS:140708

G35961 (e-PCR)
- UniSTS:14007

G38063 (e-PCR)
- UniSTS:50636

D14S1373 (e-PCR)
- UniSTS:473806

G35461 (e-PCR)
- UniSTS:43215

RH64886 (e-PCR)
- UniSTS:89591

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 1-phosphatidylinositol binding	IBA Inferred from Biological aspect of Ancestor more info
enables 1-phosphatidylinositol binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3,4,5-trisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3,4,5-trisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3,4-bisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3,4-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
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
enables zinc ion binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to starvation	IDA Inferred from Direct Assay more info	PubMed
involved_in lipid droplet formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipid droplet formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in macroautophagy	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation by host of viral genome replication	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi stack	IDA Inferred from Direct Assay more info	PubMed
located_in autophagosome	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extrinsic component of omegasome membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in lipid droplet	IBA Inferred from Biological aspect of Ancestor more info
located_in lipid droplet	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondria-associated endoplasmic reticulum membrane contact site	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in omegasome	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in phagophore assembly site	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: zinc finger FYVE domain-containing protein 1

Names: double FYVE-containing protein 1; phosphoinositide-binding protein SR3; protein phosphatase 1, regulatory subunit 172; tandem FYVE fingers-1 protein; zinc finger protein, subfamily 2A, member 1; zinc finger, FYVE domain containing 1

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_001281734.2 → NP_001268663.1 zinc finger FYVE domain-containing protein 1 isoform 3

See identical proteins and their annotated locations for NP_001268663.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.

Source sequence(s)

AL442663, BC014902, DA324499, DB059103, EL734498

Consensus CDS

CCDS61498.1

UniProtKB/TrEMBL

G3V5N8

Related

ENSP00000326921.5, ENST00000318876.9

Conserved Domains (3) summary

cd01851
Location:174 → 410

GBP; Guanylate-binding protein (GBP) family (N-terminal domain)

cd15734
Location:697 → 757

FYVE_ZFYV1; FYVE domains found in zinc finger FYVE domain-containing protein 1 (ZFYV1) and similar proteins

cl22851
Location:580 → 641

PHD_SF; PHD finger superfamily
NM_001281735.1 → NP_001268664.1 zinc finger FYVE domain-containing protein 1 isoform 2

See identical proteins and their annotated locations for NP_001268664.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate 5' exon structure, and thus differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1. Both variants 2 and 4 encode the same isoform (2).

Source sequence(s)

AK098542, AL442663, AW070816, BU740588, BX339655, CK005173, HY248287

Consensus CDS

CCDS41969.1

UniProtKB/Swiss-Prot

Q9HBF4

Related

ENSP00000377757.2, ENST00000394207.6

Conserved Domains (2) summary

cd15734
Location:296 → 356

FYVE_ZFYV1; FYVE domains found in zinc finger FYVE domain-containing protein 1 (ZFYV1) and similar proteins

cl22851
Location:179 → 240

PHD_SF; PHD finger superfamily
NM_021260.4 → NP_067083.1 zinc finger FYVE domain-containing protein 1 isoform 1

See identical proteins and their annotated locations for NP_067083.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AB046809, BC053520, HY248287

Consensus CDS

CCDS9811.1

UniProtKB/Swiss-Prot

J3KNL9, Q8WYX7, Q96K57, Q9BXP9, Q9HBF4, Q9HCI3

UniProtKB/TrEMBL

G3V5N8

Related

ENSP00000450742.1, ENST00000556143.6

Conserved Domains (3) summary

cd01851
Location:174 → 410

GBP; Guanylate-binding protein (GBP) family (N-terminal domain)

cd15734
Location:711 → 771

FYVE_ZFYV1; FYVE domains found in zinc finger FYVE domain-containing protein 1 (ZFYV1) and similar proteins

cl28890
Location:594 → 655

FYVE_like_SF; FYVE domain like superfamily
NM_178441.2 → NP_848535.1 zinc finger FYVE domain-containing protein 1 isoform 2

See identical proteins and their annotated locations for NP_848535.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate 5' exon structure, and thus differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1. Both variants 2 and 4 encode the same isoform (2).

Source sequence(s)

AF311602, AI073571, AW070816, BX339655, CK005173, HY248287

Consensus CDS

CCDS41969.1

UniProtKB/Swiss-Prot

Q9HBF4

Related

ENSP00000452232.1, ENST00000555072.1

Conserved Domains (2) summary

cd15734
Location:296 → 356

FYVE_ZFYV1; FYVE domains found in zinc finger FYVE domain-containing protein 1 (ZFYV1) and similar proteins

cl22851
Location:179 → 240

PHD_SF; PHD finger superfamily

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_000014.9 Reference GRCh38.p14 Primary Assembly

Range

72969445..73027106 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047431482.1 → XP_047287438.1 zinc finger FYVE domain-containing protein 1 isoform X2
XM_017021373.2 → XP_016876862.1 zinc finger FYVE domain-containing protein 1 isoform X2

UniProtKB/Swiss-Prot

Q9HBF4

Conserved Domains (2) summary

cd15734
Location:296 → 356

FYVE_ZFYV1; FYVE domains found in zinc finger FYVE domain-containing protein 1 (ZFYV1) and similar proteins

cl22851
Location:179 → 240

PHD_SF; PHD finger superfamily
XM_047431481.1 → XP_047287437.1 zinc finger FYVE domain-containing protein 1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060938.1 Alternate T2T-CHM13v2.0

Range

67175059..67232660 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054376226.1 → XP_054232201.1 zinc finger FYVE domain-containing protein 1 isoform X2
XM_054376227.1 → XP_054232202.1 zinc finger FYVE domain-containing protein 1 isoform X2
XM_054376225.1 → XP_054232200.1 zinc finger FYVE domain-containing protein 1 isoform X1