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FLASH GENE

Symbol

KIAA1033

contributors: mct - updated : 23-04-2012

HGNC name	KIAA1033
HGNC id	29174

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MRAR8 mental retardation, non-syndromic, 8
Location	12q23.3      Physical location : 105.501.491 - 105.562.904
Genatlas name	Strumpellin and WASH (Wiskott-Aldrich syndrome protein and Scar Homolog)-Interacting Protein
Synonym name	hypothetical protein LOC23325
Synonym symbol(s)	SWIP

DNA

TYPE	functioning gene
STRUCTURE	61.41 kb     33 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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_015275 33 - 5823 NP_056090 136.3 1173 - 2011 21498477

EXPRESSION

Type

widely

constitutive of

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     moderately   pancreas exocrine       moderately Lymphoid/Immune lymph node       predominantly   spleen       highly Skin/Tegument skin       moderately

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

CATEGORY

DNA associated

SUBCELLULAR LOCALIZATION

basic FUNCTION

required for the stability of all the other core subunits of the WASH complex

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

subunit of the WASH complex

INTERACTION

DNA

RNA

small molecule

protein

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

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MRAR8

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS