ZFYVE9 zinc finger FYVE-type containing 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZFYVE9provided by HGNC
Official Full Name: zinc finger FYVE-type containing 9provided by HGNC
Primary source: HGNC:HGNC:6775
See related: Ensembl:ENSG00000157077 MIM:603755; AllianceGenome:HGNC:6775
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: NSP; SARA; MADHIP; SMADIP; PPP1R173
Summary: This gene encodes a double zinc finger motif-containing protein that participates in the transforming growth factor-beta (TGFB) signalling pathway. The encoded protein interacts directly with SMAD2 and SMAD3, and recruits SMAD2 to the TGFB receptor. There are multiple pseudogenes for this gene on chromosomes 2, 15, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
Expression: Ubiquitous expression in brain (RPKM 8.0), thyroid (RPKM 7.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p32.3

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (52142089..52346634)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (52023594..52228099)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (52607761..52812306)

Chromosome 1 - NC_000001.11 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
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?

Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset.
Title: Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset.
SMURF2 and SMAD7 induce SARA degradation via the proteasome.
Title: SMURF2 and SMAD7 induce SARA degradation via the proteasome.
SARA expression was significantly upregulated in the temporal cortex of patients with temporal lobe epilepsy.
Title: Smad Anchor for Receptor Activation and Phospho-Smad3 Were Upregulated in Patients with Temporal Lobe Epilepsy.
we have identified endofin as an important signalling component required for basal and BMP-induced hepcidin expression.
Title: Endofin, a novel BMP-SMAD regulator of the iron-regulatory hormone, hepcidin.
SARA may serve as a potential novel target in pre-Epithelial-mesenchymal transition states for the amelioration renal fibrosis seen in chronic kidney diseases
Title: Smad Anchor for Receptor Activation Regulates High Glucose-Induced EMT via Modulation of Smad2 and Smad3 Activities in Renal Tubular Epithelial Cells.
PI3K-C2a was also required for TGFb receptor-mediated formation of SARA-Smad2/3 complex
Title: Phosphatidylinositol 3-kinase class II α-isoform PI3K-C2α is required for transforming growth factor β-induced Smad signaling in endothelial cells.
The negative influence that perturbation of RNF11 and SARA levels exerts on the lysosomal degradation of EGFRs could underscore the significance of overexpression of RNF11 in certain cancers.
Title: SARA and RNF11 interact with each other and ESCRT-0 core proteins and regulate degradative EGFR trafficking.
TGF-beta1 can induce epithelial-to-mesenchymal transition through reduction in SARA expression, SARA is also basally regulated by its interaction with PI3K.
Title: Phosphatidylinositol 3-kinase and Rab5 GTPase inversely regulate the Smad anchor for receptor activation (SARA) protein independently of transforming growth factor-β1.
no correlation between SARA expression and the levels of TGF-beta1-induced phosphorylation of Smads in various B-cell lymphomas
Title: SARA is dispensable for functional TGF-β signaling.
SARA binds to ERBIN using a new domain, which we have called the ERBID (ERBIN-binding domain)
Title: ERBIN is a new SARA-interacting protein: competition between SARA and SMAD2 and SMAD3 for binding to ERBIN.

Submit: New GeneRIF Correction See all GeneRIFs (18)

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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	Genome-wide shRNA screening identifies ZFYVE9, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-74831 (e-PCR)
- UniSTS:72762

ZFYVE9_8927 (e-PCR)
- UniSTS:468809

SHGC-105945 (e-PCR)
- UniSTS:169568

RH48831 (e-PCR)
- UniSTS:92566

RH44636 (e-PCR)
- UniSTS:89011

D1S546 (e-PCR)
- UniSTS:9213

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 1-phosphatidylinositol binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in endocytosis	NAS Non-traceable Author Statement more info	PubMed
involved_in endosomal transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in transforming growth factor beta receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in transforming growth factor beta receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in early endosome	NAS Non-traceable Author Statement more info	PubMed
is_active_in early endosome membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in early endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome membrane	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
part_of protein-containing complex	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: zinc finger FYVE domain-containing protein 9

Names: MAD, mothers against decapentaplegic homolog interacting protein, receptor activation anchor; MADH-interacting protein; novel serine protease; protein phosphatase 1, regulatory subunit 173; smad anchor for receptor activation; zinc finger, FYVE domain containing 9

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_004799.4 → NP_004790.2 zinc finger FYVE domain-containing protein 9 isoform 3

See identical proteins and their annotated locations for NP_004790.2

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the longer transcript and encodes the longer isoform (3).

Source sequence(s)

AF130419, AL139156, BC032680, DR005493

Consensus CDS

CCDS563.1

UniProtKB/Swiss-Prot

O95405, Q5T0F6, Q5T0F7, Q9UNE1, Q9Y5R7

UniProtKB/TrEMBL

Q59GI4

Related

ENSP00000287727.3, ENST00000287727.8

Conserved Domains (3) summary

cd15729
Location:690 → 757

FYVE_endofin; FYVE domain found in endofin and similar proteins

pfam11409
Location:773 → 811

SARA; Smad anchor for receptor activation (SARA)

pfam11979
Location:1048 → 1400

DUF3480; Domain of unknown function (DUF3480)
NM_007324.5 → NP_015563.2 zinc finger FYVE domain-containing protein 9 isoform 1

See identical proteins and their annotated locations for NP_015563.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) lacks an in-frame exon, compared to variant 3. The encoded isoform (1) is shorter than isoform 3.

Source sequence(s)

AF130419, AL139156, BC032680, DR005493

Consensus CDS

CCDS564.1

UniProtKB/TrEMBL

Q59GI4

Related

ENSP00000349737.2, ENST00000357206.6

Conserved Domains (2) summary

cd15729
Location:690 → 757

FYVE_endofin; FYVE domain found in endofin and similar proteins

pfam11979
Location:989 → 1341

DUF3480; Domain of unknown function (DUF3480)

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_000001.11 Reference GRCh38.p14 Primary Assembly

Range

52142089..52346634

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047434682.1 → XP_047290638.1 zinc finger FYVE domain-containing protein 9 isoform X3
XM_047434674.1 → XP_047290630.1 zinc finger FYVE domain-containing protein 9 isoform X2

UniProtKB/TrEMBL

Q59GI4
XM_011542437.3 → XP_011540739.1 zinc finger FYVE domain-containing protein 9 isoform X1

See identical proteins and their annotated locations for XP_011540739.1

UniProtKB/Swiss-Prot

O95405, Q5T0F6, Q5T0F7, Q9UNE1, Q9Y5R7

UniProtKB/TrEMBL

Q59GI4

Related

ENSP00000360647.1, ENST00000371591.2

Conserved Domains (3) summary

cd15729
Location:690 → 757

FYVE_endofin; FYVE domain found in endofin and similar proteins

pfam11409
Location:773 → 811

SARA; Smad anchor for receptor activation (SARA)

pfam11979
Location:1048 → 1400

DUF3480; Domain of unknown function (DUF3480)

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

52023594..52228099

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054339675.1 → XP_054195650.1 zinc finger FYVE domain-containing protein 9 isoform X3
XM_054339673.1 → XP_054195648.1 zinc finger FYVE domain-containing protein 9 isoform X1

UniProtKB/Swiss-Prot

O95405, Q5T0F6, Q5T0F7, Q9UNE1, Q9Y5R7

UniProtKB/TrEMBL

Q59GI4
XM_054339674.1 → XP_054195649.1 zinc finger FYVE domain-containing protein 9 isoform X2

UniProtKB/TrEMBL

Q59GI4

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_007323.1: Suppressed sequence

Description

NM_007323.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.