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

Gene ID: 9372, updated on 2-Nov-2024

Summary

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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
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Genomic context

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See ZFYVE9 in Genome Data Viewer
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_000001.11Genomic Context describing neighboring genes Neighboring gene thioredoxin domain containing 12 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:52520887-52521291 Neighboring gene TXNDC12 antisense RNA 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:52521457-52522170 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:52522171-52522882 Neighboring gene basic transcription factor 3 like 4 Neighboring gene collagen alpha-2(I) chain-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 885 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:52613533-52614066 Neighboring gene alcohol dehydrogenase 5 (class III), chi polypeptide pseudogene Neighboring gene RNA, 7SL, cytoplasmic 788, pseudogene Neighboring gene TRA2A pseudogene Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:52647543-52648512 Neighboring gene MPRA-validated peak225 silencer Neighboring gene PDCL3 pseudogene 6 Neighboring gene ribosomal protein L9 pseudogene 12 Neighboring gene MPRA-validated peak226 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr1:52683789-52683961 Neighboring gene DnaJ heat shock protein family (Hsp40) member C19 pseudogene 7 Neighboring gene anaphase promoting complex subunit 10 pseudogene 1 Neighboring gene NANOG-H3K27ac hESC enhancers GRCh37_chr1:52815874-52816848 and GRCh37_chr1:52816849-52817822 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:52822843-52823344 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 886 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 887 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1031 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 888 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 889 Neighboring gene phospholipase A2 group XIIA pseudogene 1 Neighboring gene coiled-coil and C2 domain containing 1B

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Identification of a novel serine protease-like molecule in human brain. Meckelein B, et al. Brain Res Mol Brain Res, 1998 Apr. PMID 9582421
  2. Smad anchor for receptor activation (SARA) in TGF-beta signaling. Tang WB, et al. Front Biosci (Elite Ed), 2010 Jun 1. PMID 20515759
  3. [SARA expression in high glucose induced epithelium to mesenchymal transition of proximal tubule cells]. Tang W, et al. Zhong Nan Da Xue Xue Bao Yi Xue Ban, 2010 Dec. PMID 21200089
  4. Expression, purification, and functional characterization of recombinant PTD-SARA. Huang C, et al. Acta Biochim Biophys Sin (Shanghai), 2011 Feb. PMID 21266541
  5. Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset. Porcu L, et al. Ann Clin Transl Neurol, 2023 Nov. PMID 37641437, Free PMC Article

See all (69) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. SMURF2 and SMAD7 induce SARA degradation via the proteasome.
    Title: SMURF2 and SMAD7 induce SARA degradation via the proteasome.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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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

Homology

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)

  1. 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)

  2. 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

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    52142089..52346634
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. XM_047434674.1 → XP_047290630.1  zinc finger FYVE domain-containing protein 9 isoform X2

  3. 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

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    52023594..52228099
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. XM_054339673.1 → XP_054195648.1  zinc finger FYVE domain-containing protein 9 isoform X1

    UniProtKB/Swiss-Prot
    O95405, Q5T0F6, Q5T0F7, Q9UNE1, Q9Y5R7

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

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. 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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95405.2 GenPept UniProtKB/Swiss-Prot:O95405

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