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    ZFYVE26 zinc finger FYVE-type containing 26 [ Homo sapiens (human) ]

    Gene ID: 23503, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ZFYVE26provided by HGNC
    Official Full Name
    zinc finger FYVE-type containing 26provided by HGNC
    Primary source
    HGNC:HGNC:20761
    See related
    Ensembl:ENSG00000072121 MIM:612012; AllianceGenome:HGNC:20761
    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
    SPG15; FYVE-CENT
    Summary
    This gene encodes a protein which contains a FYVE zinc finger binding domain. The presence of this domain is thought to target these proteins to membrane lipids through interaction with phospholipids in the membrane. Mutations in this gene are associated with autosomal recessive spastic paraplegia-15. [provided by RefSeq, Oct 2008]
    Expression
    Ubiquitous expression in skin (RPKM 3.6), spleen (RPKM 3.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZFYVE26 in Genome Data Viewer
    Location:
    14q24.1
    Exon count:
    45
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (67728892..67816590, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (61936011..62023694, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (68213239..68283307, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene gephyrin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:68195910-68196540 Neighboring gene RNA, 7SL, cytoplasmic 369, pseudogene Neighboring gene DnaJ heat shock protein family (Hsp40) member C9 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8586 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8587 Neighboring gene Sharpr-MPRA regulatory region 13811 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:68286883-68287644 Neighboring gene RNA, 7SL, cytoplasmic 213, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8588 Neighboring gene ribosomal protein L21 pseudogene 9 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:68335343-68335842 Neighboring gene retinol dehydrogenase 12 Neighboring gene MPRA-validated peak2182 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:68395137-68396136 Neighboring gene RAD51 paralog B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:68552975-68553525 Neighboring gene centrosomal protein 170kDa pseudogene Neighboring gene uncharacterized LOC105370546 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:68604367-68605351 Neighboring gene RNA, 7SL, cytoplasmic 706, pseudogene

    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. The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15. Saffari A, et al. Brain, 2023 May 2. PMID 36315648, Free PMC Article
    2. SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q. Hughes CA, et al. Neurology, 2001 May 8. PMID 11342696
    3. Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families. Elleuch N, et al. Neurogenetics, 2007 Nov. PMID 17661097
    4. Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Hanein S, et al. Am J Hum Genet, 2008 Apr. PMID 18394578, Free PMC Article
    5. SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum. Goizet C, et al. Neurology, 2009 Oct 6. PMID 19805727

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
      Title: The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
    2. Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families.
      Title: Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families.
    3. Investigating ZFYVE26 mutations in a Taiwanese cohort with hereditary spastic paraplegia.
      Title: Investigating ZFYVE26 mutations in a Taiwanese cohort with hereditary spastic paraplegia.
    4. Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia.
      Title: Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia.
    5. ZFYVE26 and SPG11 are differently involved in autophagy and endocytosis.
      Title: ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis.
    6. Here, we have generated induced pluripotent stem cells (iPSCs) from patients with two autosomal recessive forms of hereditary spastic paraplegia (HSP) , SPG15 and SPG48, which are caused by mutations in the ZFYVE26 and AP5Z1 genes encoding proteins in the same complex, the spastizin and AP5Z1 proteins, respectively.
      Title: Impaired mitochondrial dynamics underlie axonal defects in hereditary spastic paraplegias.
    7. Our protocol showed high specificity and sensitivity for homozygosity detection and facilitated the identification of novel mutations in GAN, GBA2, and ZFYVE26 in four families affected by hereditary spastic paraplegia or Charcot-Marie-Tooth disease
      Title: Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.
    8. spastizin and spatacsin were essential components for the initiation of lysosomal tubulation. Together, these results link dysfunction of the autophagy/lysosomal biogenesis machinery to neurodegeneration.
      Title: Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation.
    9. ZFYVE26 is a key determinant of autophagosome maturation
      Title: ZFYVE26/SPASTIZIN: a close link between complicated hereditary spastic paraparesis and autophagy.
    10. spg15 should be search for in the case of juvenile levodopa reponsive parkinsonism
      Title: SPG15: a cause of juvenile atypical levodopa responsive parkinsonism.
    Submit: New GeneRIF Correction See all GeneRIFs (21)

    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
    Hereditary spastic paraplegia 15
    MedGen: C1849128 OMIM: 270700 GeneReviews: Spastic Paraplegia 15
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0321, DKFZp781H1112, DKFZp686F19106

    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 
    enables protein kinase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within autophagosome organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in double-strand break repair via homologous recombination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within lysosome organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitotic cytokinesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cytokinesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cytokinesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in late endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosomal membrane HDA PubMed 
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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
    zinc finger FYVE domain-containing protein 26
    Names
    FYVE domain-containing centrosomal protein
    spastizin
    zinc finger, FYVE domain containing 26

    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.

    Genomic

    1. NG_011836.2 RefSeqGene

      Range
      5000..75068
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_015346.4 → NP_056161.2  zinc finger FYVE domain-containing protein 26

      See identical proteins and their annotated locations for NP_056161.2

      Status: REVIEWED

      Source sequence(s)
      AL049779, AL121595
      Consensus CDS
      CCDS9788.1
      UniProtKB/Swiss-Prot
      B1B5Y3, B4E2U3, O15035, Q68DK2, Q68DT9, Q6AW90, Q6ZR50, Q7Z3A4, Q7Z3I1, Q8N4W7, Q96H43
      UniProtKB/TrEMBL
      A0A7I2YQU3
      Related
      ENSP00000251119.5, ENST00000347230.9
      Conserved Domains (1) summary
      cd15724
      Location:1809 → 1869
      FYVE_ZFY26; FYVE domain found in FYVE domain-containing protein 26 (ZFY26 or ZFYVE26)

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      67728892..67816590 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431173.1 → XP_047287129.1  zinc finger FYVE domain-containing protein 26 isoform X1

      Related
      ENSP00000450603.1, ENST00000555452.1

    2. XM_047431175.1 → XP_047287131.1  zinc finger FYVE domain-containing protein 26 isoform X3

    3. XM_047431174.1 → XP_047287130.1  zinc finger FYVE domain-containing protein 26 isoform X2

    4. XM_011536609.3 → XP_011534911.1  zinc finger FYVE domain-containing protein 26 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      61936011..62023694 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375728.1 → XP_054231703.1  zinc finger FYVE domain-containing protein 26 isoform X1

    2. XM_054375730.1 → XP_054231705.1  zinc finger FYVE domain-containing protein 26 isoform X3

    3. XM_054375729.1 → XP_054231704.1  zinc finger FYVE domain-containing protein 26 isoform X2

    4. XM_054375731.1 → XP_054231706.1  zinc finger FYVE domain-containing protein 26 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q68DK2.4 GenPept UniProtKB/Swiss-Prot:Q68DK2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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