CCDC88A - coiled-coil domain containing 88A Gene

Also Known as APE; GIV; GRDN; PEHO; HkRP1; PEHOL; GIRDIN; KIAA1212

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55704

About CCDC88A

Cytogenetic location: 2p16.1 Genomic coordinates (GRCh38): 2:55,287,842-55,419,856 (from NCBI)

This gene has 67 transcripts (splice variants), 209 orthologues, 5 paralogues and is associated with 3 phenotypes. Broad expression in testis (RPKM 20.8), brain (RPKM 15.3) and 23 other tissues.

Summary

This gene encodes a member of the Girdin family of coiled-coil domain containing proteins. The encoded protein is an actin-binding protein that is activated by the serine/threonine kinase Akt and plays a role in Cytoskeleton remodeling and cell migration. The encoded protein also enhances Akt signaling by mediating phosphoinositide 3-kinase (PI3K)-dependent activation of Akt by growth factor Receptor Tyrosine Kinases and G protein-coupled receptors. Increased expression of this gene and phosphorylation of the encoded protein may play a role in Cancer metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

CCDC88A Products (4)

mRNA	Protein	Name
NM_001135597.2	NP_001129069.1	girdin isoform 1
NM_001254943.2	NP_001241872.1	girdin isoform 3
NM_001365480.1	NP_001352409.1	girdin isoform 4
NM_018084.5	NP_060554.3	girdin isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables G-protein alpha-subunit binding	IPI IPI: Inferred from physical interaction	19211784	GOA
enables GDP-dissociation inhibitor activity	IDA IDA: Inferred from direct assay	27621449	GOA
enables SH2 domain binding	IPI IPI: Inferred from physical interaction	21954290	GOA
enables actin binding	IDA IDA: Inferred from direct assay	16139227	GOA
enables epidermal growth factor receptor binding	IPI IPI: Inferred from physical interaction	20462955	GOA
enables guanyl-nucleotide exchange factor activity	IDA IDA: Inferred from direct assay	19211784	GOA
enables insulin receptor binding	IPI IPI: Inferred from physical interaction	25187647	GOA
enables phosphatidylinositol binding	IDA IDA: Inferred from direct assay	16139227	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	16139227	GOA
enables protein kinase B binding	IPI IPI: Inferred from physical interaction	16139227	GOA
enables protein kinase C binding	IPI IPI: Inferred from physical interaction	23509302	GOA
enables vascular endothelial growth factor receptor 2 binding	IPI IPI: Inferred from physical interaction	25187647	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in activation of protein kinase activity	IDA IDA: Inferred from direct assay	21954290	GOA
involved in cell migration	IMP IMP: Inferred from mutant phenotype	16139227	GOA
involved in lamellipodium assembly	IMP IMP: Inferred from mutant phenotype	16139227	GOA
involved in maintenance of protein location in plasma membrane	IDA IDA: Inferred from direct assay	20462955	GOA
involved in membrane organization	IDA IDA: Inferred from direct assay	15882442	GOA
involved in positive regulation of cilium assembly	IMP IMP: Inferred from mutant phenotype	27623382	GOA
involved in positive regulation of epidermal growth factor receptor signaling pathway	IDA IDA: Inferred from direct assay	20462955	GOA
involved in positive regulation of protein localization to cilium	IMP IMP: Inferred from mutant phenotype	27623382	GOA
involved in positive regulation of stress fiber assembly	IMP IMP: Inferred from mutant phenotype	16139227	GOA
involved in regulation of actin cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	16139227	GOA
involved in small GTPase-mediated signal transduction	IDA IDA: Inferred from direct assay	19211784	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	15882442	GOA
located in centriole	IDA IDA: Inferred from direct assay	27623382	GOA
located in ciliary basal body	IDA IDA: Inferred from direct assay	27623382	GOA
located in cytoplasmic vesicle	IDA IDA: Inferred from direct assay	15882442	GOA
located in cytosol	IDA IDA: Inferred from direct assay	15749703	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	15882442	GOA
located in lamellipodium	IDA IDA: Inferred from direct assay	16139227	GOA
located in membrane	IDA IDA: Inferred from direct assay	15749703	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	15882442	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CCDC88A Protein Structure

HOOK

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1871 a.a.

Protein Preferred Names	Protein Names
girdin	AKT-phosphorylation enhancer

CCDC88A Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811371	Girdin Antibody	IHC-P, ELISA	Human, Mouse
HY-P811372	phospho-Girdin (Tyr1417) Antibody	IHC-P, ELISA	Human, Mouse

Related Diseases

Diseases	Alias
Peho-Like Syndrome	Peho Syndrome-Like PEHOL Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy-Like Syndrome
Bilateral Polymicrogyria
Hemangioma Of Lung	Pulmonary Hemangioma
Peho Syndrome	Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy Infantile Cerebellooptic Atrophy PEHO Progressive Encephalopathy With Edema, Hypsarrhythmia And Optic Atrophy Progressive Encephalopathy-Optic Atrophy Syndrome
Gliofibroma
Polymicrogyria	Pmg
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02061	CCDC88A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21994	Ccdc88a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28511	Ccdc88a Rat Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CCDC88A	VGNC	VGNC:26927
Canis familiaris	CCDC88A	VGNC	VGNC:38867
Rattus norvegicus	CCDC88A	RGD	RGD:1306694
Mus musculus	CCDC88A	MGD	MGI:1925177
Felis catus	CCDC88A	VGNC	VGNC:80058
Macaca mulatta	CCDC88A	VGNC	VGNC:70860
Others	CCDC88A	NCBI