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FLASH GENE

Symbol

ZFYVE26

contributors: shn - updated : 03-01-2014

HGNC name	zinc finger, FYVE domain containing 26
HGNC id	20761

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SPG15 spastic paraplegia 15
Location	14q24.1      Physical location : 68.213.236 - 68.283.306
Synonym name	cDNA sequence, expressed in brain, >100kDa, related to murine Hrs
	spastizin
Synonym symbol(s)	KIAA0321, DKFZp686F066, DKFZp686F19106, DKFZp781H1112, SPG15, FYVE-CENT

DNA

TYPE	functioning gene
STRUCTURE	70.06 kb     42 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D14S981 - D14S125 - ZFYVE26 - D14S1069 - D14S1065 - tel

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_015346.3 42 - 9688 NP_056161 284.6 2539 - -

EXPRESSION

Type

widely

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine adrenal gland       highly Homo sapiens   placenta       highly Homo sapiens Lymphoid/Immune thymus       highly Homo sapiens Nervous brain       predominantly Homo sapiens   spinal cord       moderately Homo sapiens Reproductive male system testis     highly Homo sapiens Respiratory lung       highly Homo sapiens Visual eye retina     highly Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one FYVE-type zinc finger domain
	a putative zinc finger C2H2 and leucine zipper domains
	predicted to have secondary structures containing alpha-solenoids

HOMOLOGY

interspecies	ortholog to Zfyve26, Mus musculus
	ortholog to Zfyve26, Rattus norvegicus
	ortholog to ZFYVE26, Pan troglodytes
	ortholog to zfyve26, Danio rerio

Homologene

FAMILY

FYVE-finger family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,organelle,lysosome
text	localizes to the endosomal membrane traffic compartment, suggesting that the long axons of the corticospinal tract may be especially vulnerable to endosomal dysfunction
	localizes on a late endosomal/lysosomal compartments
	broadly expressed in neurons, associates with intracellular vesicles immunopositive for the early endosomal marker EEA1, and co-fractionates with a component of the AP5 complex

basic FUNCTION	may be playing a role in intracellular trafficking
	involved in the abscission step during cytokinesis
	important for proper development of the axons of spinal motor neurons
	role in autophagy and required for autophagosome maturation
	involved in the endolysosomal system

CELLULAR PROCESS	cell cycle, division, mitosis

PHYSIOLOGICAL PROCESS

nervous system , cellular trafficking transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	microtubule motor KIF13A and tetratricopeptide repeat domain 19, TTC19
	KIAA0415
	AP-5 subunits
	Beclin 1, Vps34, Rubicon and UVRAG

cell & other

phosphatidylinositol-3-phosphate (PtdIns(3)P)

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SPG15

Susceptibility

atypical juvenile parkinsonism

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	SPG15 knock-down in zebrafish by morpholino antisense oligonucleotides lead to locomotor impairment and abnormal branching of spinal cord motor neurons at the neuromuscular junction
	SPG15 knockdown causes the cation-independent mannose 6-phosphate receptor to become trapped in clusters of early endosomes as well as the tubulation of EEA1-positive endosomesof HeLa cellof HeLa cells
	autophagy defects with autophagosome accumulation is observed also in neuronal cells upon spastizin silencing
	Zfyve26 knockout mice develop late-onset spastic paraplegia with cerebellar ataxia, display axon degeneration and progressive loss of both cortical motoneurons and Purkinje cells in the cerebellum
	an increase of Lamp1-positive membrane compartments with higher densities in Zfyve26 knockout mice