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FLASH GENE

Symbol

CCDC88A

contributors: mct/npt/pgu - updated : 03-03-2012

HGNC name	coiled-coil domain containing 88A
HGNC id	25523

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	2p16.1      Physical location : 55.514.977 - 55.647.057
Synonym name	hook-related protein 1
	girders of actin filament
	girdin
	Akt phosphorylation enhancer
	G alpha-interacting vesicle-associated protein
Synonym symbol(s)	APE, GIV, GRDN, HkRP1, GIRDIN, KIAA1212, FLJ10392, DKFZp686D0630

DNA

TYPE	functioning gene
STRUCTURE	132.08 kb     32 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_018084 32 splicing 9746 NP_060554 212.5 1843 - 2005 15749703 lacking an alternate segment in the 3' coding region compared to variant 1 NM_001135597 33 splicing 9827 NP_001129069 215.8 1870 - 2005 15749703 NM_001254943 - - 9605 NP_001241872 - 1796 - 2005 15749703

EXPRESSION

Type

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 mouth       moderately   pancreas exocrine       lowly   pharynx       moderately   salivary gland       moderately Lymphoid/Immune lymph node       predominantly Nervous brain       highly   nerve       highly Reproductive male system testis     highly Urinary kidney       lowly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly Muscular       moderately

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminus containing a putative microtubule-binding domain that can bind microtubules in the Hook protein
	the central region of each protein is comprised of an extensive coiled-coil domain
	several conserved domains, including a unique C-terminal HkRP domain, that causes an accumulation of internal membranes with an electron-dense coat
	NUCB1 and NUCB2, two highly homologous calcium-binding proteins, share a common motif with CCDC88A for Galpha(i) binding and activation

conjugated

PhosphoP

mono polymer

homomer , dimer

HOMOLOGY

interspecies	homolog to rattus Ccdc88a (93.2 pc)
	homolog to murine Ccdc88a (94.9 pc)

Homologene

FAMILY	Hook-related protein (HkRP) family
	CCDC88 family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,cytosolic,vesicle
text	lamellipodium
	localized to the cell membrane through interaction with phosphoinositides

basic FUNCTION	enhancing phosphoinositide 3-kinase (PI3K)-dependent phosphorylation and kinase activity of AKT1/PKB
	being essential for the integrity of the actin cytoskeleton and for cell migration
	required for formation of actin stress fibers and lamellipodia
	may be involved in membrane sorting in the early endosome
	involved in the process of tubulation of sorting nexin-1 positive membranes from early endosome subdomains
	important role in tumor progression in which the Akt signaling pathway is aberrantly activated
	may play a role in Galpha-mediated effects on vesicle trafficking within the Golgi and/or between the ER and the Golgi
	CCDC88A/GNAI3 coupling is essential for cell migration during wound healing, macrophage chemotaxis, and tumor cell migration
	serves as a nonreceptor guanine nucleotide exchange factors for G alpha i through an evolutionarily conserved motif
	metastasis-related protein and an independent adverse prognosticator that may serve as a useful adjunct to traditional staging strategies in colorectal carcinoma
	CCDC88A and its AKT-mediated phosphorylation have major roles in the migration and proliferation of vascular smooth muscle cells (VSMCs) and vascular remodeling
	important intrinsic factor that specifically governs neuroblast chain migration along the rostral migratory stream
	enhances AKT activation downstream of multiple growth factor- and G protein (heterotrimeric guanosine 5prime -triphosphate-binding protein)-coupled receptors to trigger cell migration and cancer invasion

CELLULAR PROCESS	cell life, proliferation/growth
	nucleotide, replication
	cell organization/biogenesis
	cell migration & motility

PHYSIOLOGICAL PROCESS

text	lamellipodium biogenesis
	regulation of actin cytoskeleton organization and biogenesis
	regulation of cell proliferation

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	non-phosphorylated form interacting with phosphatidylinositol 4-phosphate and weakly with phosphatidylinositol 3-phosphate
	interacting with microtubules
	interacting with actin through its C-terminal domain
	interacting with the C-terminus of AKT1/PKB
	binds members of the Galpha(i) and Galpha subfamilies of heterotrimeric G proteins
	is a GNAI3 binding partner
	interacting with G alpha(i3) (activation of G alpha(i3) by CCDC88A is essential for biological functions associated with G alpha(i3) activation)
	tyrosine phosphoprotein that directly binds to and activates phosphoinositide 3-kinase (PI3K)

cell & other

REGULATION

Other	phosphorylation induced by epidermal growth factor (EGF) in a phosphoinositide 3-kinase (PI3K)-dependent manner
	phosphorylation by AKT1/PKB is necessary for the delocalization from the cell membrane and for cell migration
	phosphorylated by the stimulation of insulin-like growth factor (IGF-I)

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed miscelleaneous vascular   AKT/CCDC88A signaling pathway is a potential target for the development of new therapeutics for vascular diseases

ANIMAL & CELL MODELS