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

Gene ID: 9372, updated on 9-Aug-2021

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
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

See ZFYVE9 in Genome Data Viewer
Location:
1p32.3
Exon count:
21
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (52142001..52348664)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (52607761..52812306)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene basic transcription factor 3 like 4 Neighboring gene uncharacterized LOC107984956 Neighboring gene alcohol dehydrogenase 5 (class III), chi polypeptide pseudogene Neighboring gene RNA, 7SL, cytoplasmic 788, pseudogene Neighboring gene TRA2A pseudogene Neighboring gene PDCL3 pseudogene 6 Neighboring gene ribosomal protein L9 pseudogene 12 Neighboring gene DnaJ heat shock protein family (Hsp40) member C19 pseudogene 7 Neighboring gene anaphase promoting complex subunit 10 pseudogene 1 Neighboring gene coiled-coil and C2 domain containing 1B Neighboring gene phospholipase A2 group XIIA pseudogene 1 Neighboring gene origin recognition complex subunit 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?

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
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
PubMed 
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

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_004799.4NP_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
    Related
    ENSP00000287727.3, ENST00000287727.8
    Conserved Domains (3) summary
    cd15729
    Location:690757
    FYVE_endofin; FYVE domain found in endofin and similar proteins
    pfam11409
    Location:773811
    SARA; Smad anchor for receptor activation (SARA)
    pfam11979
    Location:10481400
    DUF3480; Domain of unknown function (DUF3480)
  2. NM_007324.5NP_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/Swiss-Prot
    O95405
    Related
    ENSP00000349737.2, ENST00000357206.6
    Conserved Domains (2) summary
    cd15729
    Location:690757
    FYVE_endofin; FYVE domain found in endofin and similar proteins
    pfam11979
    Location:9891341
    DUF3480; Domain of unknown function (DUF3480)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    52142001..52348664
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017002845.1XP_016858334.1  zinc finger FYVE domain-containing protein 9 isoform X2

  2. XM_011542437.2XP_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
    Related
    ENSP00000360647.1, ENST00000371591.2
    Conserved Domains (3) summary
    cd15729
    Location:690757
    FYVE_endofin; FYVE domain found in endofin and similar proteins
    pfam11409
    Location:773811
    SARA; Smad anchor for receptor activation (SARA)
    pfam11979
    Location:10481400
    DUF3480; Domain of unknown function (DUF3480)

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.
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