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FLASH GENE

Symbol

WDR45

contributors: mct - updated : 22-12-2018

HGNC name	WD repeat domain 45
HGNC id	28912

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	NBIA5 neurodegeneration with brain iron accumulation 5
Location	Xp11.23      Physical location : 48.932.091 - 48.958.059
Synonym name	WD repeat domain, X-linked 1
	WD45 repeat protein interacting with phosphoinositides 4
Synonym symbol(s)	JM5, WDRX1, WIPI-4, WIPI4, NBIA4

DNA

TYPE	functioning gene
STRUCTURE	26.69 kb     11 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_007075 11 - 1925 NP_009006 - 361 - 2004 15602573 NM_001029896 11 - 1655 NP_001025067 - 360 - 2004 15602573

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 Endocrine parathyroid       highly Reproductive female system uterus cervix   highly Respiratory respiratory tract larynx     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	three WD repeats
	a conserved motif for interaction with phospholipids

secondary structure

seven-bladed beta-propeller structure

HOMOLOGY

Homologene

FAMILY

the WIPI subfamily of WD40 repeat proteins

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm

basic FUNCTION	regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions
	beta-propeller scaffold protein with a putative role in autophagy
	beta-propeller protein postulated to play a role in autophagy
	plays a key role in autophagy
	WIPI proteins function as essential phosphatidylinositol 3-phosphate (PtdIns3P) effectors at the nascent autophagosome
	novel function of WDR45/45B in autophagosome-lysosome fusion
	WDR45 and WDR45B are critical for autophagosome-lysosome fusion in neural cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

AMPK-related kinases NUAK2 and BRSK2 regulate autophagy through WDR45

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

NBIA5

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS