Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

ZFYVE27

contributors: shn - updated : 11-10-2013

HGNC name	zinc finger, FYVE domain containing 27
HGNC id	26559

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SPG33 spastic paraplegia 33
Location	10q24.2      Physical location : 99.496.877 - 99.520.663
Synonym name	protrudin
Synonym symbol(s)	RP11-459F3.2, FLJ32919, SPG33

DNA

TYPE	functioning gene
STRUCTURE	23.79 kb     13 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen -D10S1758 - D10S1709 - ZFYVE27 - D10S1726 - D10S198 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001174120 10 splicing 2776 NP_001167591 - 318 - - NM_144588 13 splicing 3059 NP_653189 - 411 - - NM_001174119 11 splicing 2938 NP_001167590 - 372 - - NM_001174122 9 splicing 2680 NP_001167593 - 286 - - NM_001174121 10 splicing 2780 NP_001167592 - 311 - - NM_001002262 12 splicing 3038 NP_001002262 - 404 - - NM_001002261 12 splicing 2869 NP_001002261 - 416 - -

EXPRESSION

Type	ubiquitous

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 Digestive intestine small intestine     highly   intestine large intestine colon     Lymphoid/Immune thymus       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a FYVE (lipid-binding) domain
	a Rab11-binding domain
	a short sequence motif designated FFAT
	an hydrophobic region HR3

conjugated

GlycoP

HOMOLOGY

interspecies	ortholog to Zfyve27, Mus musculus
	ortholog to Zfyve27, Rattus norvegicus

Homologene

FAMILY

FYVE-finger family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic,vesicle
text	punctate vesicles PubMed:16826525

basic FUNCTION	a key regulator of vesicular transport during neurite extension
	involved in neuronal intracellular trafficking in the corticospinal tract (regulator of the endocytic membrane trafficking)
	promoted neurite formation through interaction with the guanosine diphosphate (GDP)-bound form of Rab11
	facilitates the interaction of KIF5 with Rab11, VAP-A and -B, Surf4, and RTN3, thus serves as an adaptor protein and the protrudin-KIF5 complex contributes to the transport of these proteins in neurons
	protrudin-FYVE domain is critical for its cellular localization and its role in neurite outgrowth

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	neurite formation

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	ion Zn2+
	phosphatidylinositol 3-phosphate lipid moiety

protein	spastin
	RAB11-GDP
	vesicle-associated membrane protein-associated protein, VAP-A
	KIF5
	ZFYVE27
	ZFYVE27 interact with other hereditary spastic paraplegia-related proteins including myelin proteolipid protein 1 (SPG2), atlastin-1 (SPG3A), REEP1, REEP5 (similar to REEP1), KIF5A, KIF5B, KIF5C

cell & other

REGULATION

Other	phosphorylated by ERK, promoting the association with RAB11-GDP
	regulated by vesicle-associatedmembrane protein-associated protein A, VAPA

ASSOCIATED DISORDERS

corresponding disease(s)

SPG33

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional somatic mutation       a missense mutation of ZFYVE27 affects neuronal intracellular trafficking in the cortical spinal tract the resulting protein with a G191V subsitution shows an aberrant untracellular pattern in tubular structures, affecting its interaction with spastin

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	cells expressing ZFYVE27(&
	916;HR3) failed to produce protrusions instead caused swelling of cell soma
	Protrudin mutants with reduced PtdInsP-binding affinity failed to promote neurite outgrowth in primary rat cultured hippocampal neuron