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

Home Page

FLASH GENE

Symbol

WASHC5

contributors: mct/shn - updated : 31-03-2021

HGNC name	WASH complex subunit 5
HGNC id	28984

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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 Homo sapiens Adult NM_014846   intestine large intestine colon   highly Homo sapiens Adult NM_014846   liver       moderately Homo sapiens Adult NM_014846 Endocrine pancreas       moderately Homo sapiens Adult NM_014846 Lymphoid/Immune spleen       moderately Homo sapiens Adult NM_014846   thymus       moderately Homo sapiens Adult NM_014846 Nervous brain forebrain cerebral lobe frontal lobe highly Homo sapiens Adult NM_014846   brain forebrain cerebral lobe temporal lobe moderately Homo sapiens Adult NM_014846   brain forebrain cerebral lobe parietal lobe highly Homo sapiens Adult NM_014846   brain forebrain cerebral cortex   highly Homo sapiens Adult NM_014846   brain midbrain substantia nigra   highly Homo sapiens Adult NM_014846   brain forebrain cerebral cortex frontal cortex moderately Homo sapiens Adult NM_014846   brain forebrain cerebral cortex occipital cortex moderately Homo sapiens Adult NM_014846   brain hindbrain cerebellum   moderately Homo sapiens Adult NM_014846   brain hindbrain pons   moderately Homo sapiens Adult NM_014846   brain hindbrain medulla oblongata   moderately Homo sapiens Adult NM_014846   brain basal nuclei corpus callosum   moderately Homo sapiens Adult NM_014846   brain diencephalon thalamus   moderately Homo sapiens Adult NM_014846   brain basal nuclei caudate nucleus   moderately Homo sapiens Adult NM_014846   spinal cord       highly Homo sapiens Adult NM_014846 Reproductive female system ovary     lowly Homo sapiens Adult NM_014846   female system placenta     highly Homo sapiens Adult NM_014846   male system testis     moderately Homo sapiens Adult NM_014846   male system prostate     moderately Homo sapiens Adult NM_014846 Respiratory lung       highly Homo sapiens Adult NM_014846 Urinary kidney       moderately Homo sapiens Adult NM_014846

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   moderately Homo sapiens Adult NM_014846 Nervous central       Homo sapiens Adult NM_014846

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte Homo sapiens Adult NM_014846

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

A N-terminal domain, a ‘spectrin-like’ repeat domain (five repeats), and a C-terminal domain

secondary structure

two helices from the 1,159-aa protein are shown, including amino acids 614-634 in one -helix and amino acids 662-672 from a nearby -helix in the antiparallel direction

HOMOLOGY

interspecies

ortholog to KIAA0196, Pan troglodytes

Homologene

FAMILY

strumpellin family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleoplasm
text	cytosolic and endoplasmic reticulum
	Co-localization with the pre-synaptic glycoprotein synaptophysin
	cytoplasmic and dendritic strumpellin staining pattern in pyramidal neurons

basic FUNCTION	likely to be involved in docking with one of the cytoskeletal spectrin repeats, which could help in protein localization or signal transduction
	has a pathogenic role in prostate cancer

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component

is a core component of the Wiskott-Aldrich syndrome protein and SCAR homolog (WASH) complex that activates actin nucleation at endosomes

INTERACTION

DNA

RNA

small molecule

protein	WASH complex including KIAA1033, KIAA0592, WASH, CP alpha, CP beta, and “coiled-coil domain containing 53
	both KIAA0196 and KIAA1033 bind to alpha-appendage of the adaptor protein complex 2 (AP2), which acts as an interaction hub for accessory proteins in endocytosis mediated by clathrin-coated vesicle
	FKBP15
	valosin-containing protein (VCP)binding partner
	CAV1, a key component of caveolae, interacted with WASHC5 in cells, and WASHC5 inhibited the lysosomal degradation of CAV1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SPG8 , RSTC1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   amplified and overexpressed in prostate cancer tumoral         putative progression markers for prostate cancer

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Morpholino oligonucleotide knockdown of the KIAA0196 protein ortholog in zebrafish resulted in an enlarged heart cavity, along with a curly-tail phenotype that severely impaired the ability of the fish to swim properly
	Overexpression as well as knockdown of strumpellin in prostate cancer cells affected neither cell proliferation nor invasion
	Strumpellin knockdown causes a marked reduction of axonal growth in human SH-SY5Y neuroblastoma cells
	Strumpellin knockdown in zebrafish induces cardiac contractile dysfunction, pericardial oedema attributed to a reduction of systolic heart function, and loss of motoneuron formation
	Strumpellin morphant zebrafish embryos displayed severe skeletal muscle dysfunction