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

Summary

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

Location:: 14q24.1

Exon count:: 45

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (67728892..67816590, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (61936011..62023694, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (68213239..68283307, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

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.
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.
Investigating ZFYVE26 mutations in a Taiwanese cohort with hereditary spastic paraplegia.
Title: Investigating ZFYVE26 mutations in a Taiwanese cohort with hereditary spastic paraplegia.
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.
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.
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.
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.
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.
ZFYVE26 is a key determinant of autophagosome maturation
Title: ZFYVE26/SPASTIZIN: a close link between complicated hereditary spastic paraparesis and autophagy.
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 EBI GWAS CatalogPubMed

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

RH70433 (e-PCR)
- UniSTS:25860

D14S77 (e-PCR)
- UniSTS:49483

SHGC-58403 (e-PCR)
- UniSTS:53082

RH45584 (e-PCR)
- UniSTS:75894

A008C26 (e-PCR)
- UniSTS:50870

MARC_5453-5454:996690402:1 (e-PCR)
- UniSTS:269519

G35820 (e-PCR)
- UniSTS:68072

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 more info	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

NG_011836.2 RefSeqGene

Range

5000..75068

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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_2023_10

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

67728892..67816590 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Related

ENSP00000450603.1, ENST00000555452.1
XM_047431175.1 → XP_047287131.1 zinc finger FYVE domain-containing protein 26 isoform X3
XM_047431174.1 → XP_047287130.1 zinc finger FYVE domain-containing protein 26 isoform X2
XM_011536609.3 → XP_011534911.1 zinc finger FYVE domain-containing protein 26 isoform X4

Alternate T2T-CHM13v2.0

Genomic

NC_060938.1 Alternate T2T-CHM13v2.0

Range

61936011..62023694 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054375728.1 → XP_054231703.1 zinc finger FYVE domain-containing protein 26 isoform X1
XM_054375730.1 → XP_054231705.1 zinc finger FYVE domain-containing protein 26 isoform X3
XM_054375729.1 → XP_054231704.1 zinc finger FYVE domain-containing protein 26 isoform X2
XM_054375731.1 → XP_054231706.1 zinc finger FYVE domain-containing protein 26 isoform X4