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Aliases for CCDC88A Gene

Aliases for CCDC88A Gene

  • Coiled-Coil Domain Containing 88A 2 3
  • KIAA1212 2 3 4 6
  • Girdin 2 3 6
  • HkRP1 3 4 6
  • APE 3 4 6
  • GIV 3 4 6
  • G Alpha-Interacting Vesicle-Associated Protein 3 4
  • Girders Of Actin Filaments 2 3
  • Girders Of Actin Filament 3 4
  • Hook-Related Protein 1 3 4
  • GRDN 3 4
  • Galpha-Interacting Vesicle-Associated Protein 2
  • Coiled-Coil Domain-Containing Protein 88A 4
  • Akt-Phosphorylation Enhancer 2
  • AKT-Phosphorylation Enhancer 3
  • Akt Phosphorylation Enhancer 4

External Ids for CCDC88A Gene

Previous Symbols for CCDC88A Gene

  • KIAA1212

Summaries for CCDC88A Gene

Entrez Gene Summary for CCDC88A Gene

  • 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]

GeneCards Summary for CCDC88A Gene

CCDC88A (Coiled-Coil Domain Containing 88A) is a Protein Coding gene. GO annotations related to this gene include protein homodimerization activity and microtubule binding. An important paralog of this gene is HOOK3.

UniProtKB/Swiss-Prot for CCDC88A Gene

  • Plays a role as a key modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation. Enhances phosphoinositide 3-kinase (PI3K)-dependent phosphorylation and kinase activity of AKT1/PKB, but does not possess kinase activity itself. Phosphorylation of AKT1/PKB thereby induces the phosphorylation of downstream effectors GSK3 and FOXO1/FKHR, and regulates DNA replication and cell proliferation (By similarity). 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.

Gene Wiki entry for CCDC88A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC88A Gene

Genomics for CCDC88A Gene

Genomic Location for CCDC88A Gene

Start:
55,287,842 bp from pter
End:
55,419,921 bp from pter
Size:
132,080 bases
Orientation:
Minus strand

Genomic View for CCDC88A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CCDC88A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC88A Gene

Regulatory Elements for CCDC88A Gene

Proteins for CCDC88A Gene

  • Protein details for CCDC88A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3V6T2-GRDN_HUMAN
    Recommended name:
    Girdin
    Protein Accession:
    Q3V6T2
    Secondary Accessions:
    • A1IGE7
    • B7ZM78
    • C9JG83
    • Q53SF1
    • Q581G3
    • Q5HYD0
    • Q7Z339
    • Q7Z3C5

    Protein attributes for CCDC88A Gene

    Size:
    1871 amino acids
    Molecular mass:
    216042 Da
    Quaternary structure:
    • Interacts (via C-terminus) with DISC1; the interaction is direct. Interacts with AKT proteins; the interaction is inhibited in presence of DISC1 (By similarity). Homodimer. The non-phosphorylated form interacts with phosphatidylinositol 4-phosphate [PI(4)P] and weakly with phosphatidylinositol 3-phosphate [PI(3)P]. Interacts with microtubules. Interacts with actin through its C-terminal domain. Interacts with the C-terminus of AKT1/PKB.
    SequenceCaution:
    • Sequence=AAY14932.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAD97945.1; Type=Miscellaneous discrepancy; Note=Intron retention at the C-terminus.; Evidence={ECO:0000305}; Sequence=CAI46020.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for CCDC88A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC88A Gene

Proteomics data for CCDC88A Gene at MOPED

Post-translational modifications for CCDC88A Gene

  • Phosphorylation is 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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCDC88A Gene

Domains for CCDC88A Gene

Protein Domains for CCDC88A Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

GRDN_HUMAN
Family:
  • Belongs to the CCDC88 family.:
    • Q3V6T2
genes like me logo Genes that share domains with CCDC88A: view

No data available for Gene Families for CCDC88A Gene

Function for CCDC88A Gene

Molecular function for CCDC88A Gene

UniProtKB/Swiss-Prot Function: Plays a role as a key modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation. Enhances phosphoinositide 3-kinase (PI3K)-dependent phosphorylation and kinase activity of AKT1/PKB, but does not possess kinase activity itself. Phosphorylation of AKT1/PKB thereby induces the phosphorylation of downstream effectors GSK3 and FOXO1/FKHR, and regulates DNA replication and cell proliferation (By similarity). 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.

Gene Ontology (GO) - Molecular Function for CCDC88A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IDA 16139227
GO:0005515 protein binding --
GO:0008017 microtubule binding ISS --
GO:0035091 phosphatidylinositol binding IDA 16139227
GO:0042803 protein homodimerization activity IPI 16139227
genes like me logo Genes that share ontologies with CCDC88A: view
genes like me logo Genes that share phenotypes with CCDC88A: view

Animal Models for CCDC88A Gene

MGI Knock Outs for CCDC88A:

miRNA for CCDC88A Gene

miRTarBase miRNAs that target CCDC88A

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for CCDC88A Gene

Localization for CCDC88A Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC88A Gene

Membrane. Cell membrane. Cytoplasm, cytosol. Cytoplasmic vesicle. Cell projection, lamellipodium. Note=Localizes to the cell membrane through interaction with phosphoinositides. {ECO:0000269 PubMed:15882442, ECO:0000269 PubMed:16139227}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CCDC88A Gene COMPARTMENTS Subcellular localization image for CCDC88A gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 5
nucleus 3
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for CCDC88A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 15882442
GO:0005794 Golgi apparatus IDA 15882442
GO:0005829 cytosol IDA 15749703
GO:0005886 plasma membrane IDA 15882442
GO:0016020 membrane IDA 15749703
genes like me logo Genes that share ontologies with CCDC88A: view

Pathways for CCDC88A Gene

SuperPathways for CCDC88A Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC88A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001932 regulation of protein phosphorylation ISS --
GO:0006260 DNA replication IEA --
GO:0006275 regulation of DNA replication ISS --
GO:0010975 regulation of neuron projection development ISS --
GO:0016192 vesicle-mediated transport --
genes like me logo Genes that share ontologies with CCDC88A: view

No data available for Pathways by source for CCDC88A Gene

Transcripts for CCDC88A Gene

mRNA/cDNA for CCDC88A Gene

(12) REFSEQ mRNAs :
(28) Additional mRNA sequences :
(14) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CCDC88A Gene

Coiled-coil domain containing 88A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC88A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19 ^ 20 ^ 21a · 21b ^
SP1: -
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 22a · 22b ^ 23 ^ 24 ^ 25a · 25b · 25c ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31a · 31b ^ 32a · 32b · 32c · 32d ^ 33 ^ 34 ^ 35a · 35b
SP1: - - -
SP2: - - - - - -
SP3: - - - - -
SP4:
SP5: - - - -
SP6: - -
SP7: -
SP8: - - - - - -
SP9:
SP10: - -
SP11:
SP12:
SP13:

Relevant External Links for CCDC88A Gene

GeneLoc Exon Structure for
CCDC88A
ECgene alternative splicing isoforms for
CCDC88A

Expression for CCDC88A Gene

mRNA expression in normal human tissues for CCDC88A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CCDC88A Gene

SOURCE GeneReport for Unigene cluster for CCDC88A Gene Hs.292925

mRNA Expression by UniProt/SwissProt for CCDC88A Gene

Q3V6T2-GRDN_HUMAN
Tissue specificity: Expressed ubiquitously.
genes like me logo Genes that share expressions with CCDC88A: view

Orthologs for CCDC88A Gene

This gene was present in the common ancestor of animals.

Orthologs for CCDC88A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC88A 36
  • 99.71 (n)
  • 99.95 (a)
CCDC88A 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CCDC88A 36
  • 93.89 (n)
  • 96.41 (a)
CCDC88A 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC88A 36
  • 93.99 (n)
  • 97.33 (a)
CCDC88A 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc88a 36
  • 90.9 (n)
  • 94.84 (a)
Ccdc88a 16
Ccdc88a 37
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCDC88A 37
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC88A 37
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc88a 36
  • 90.4 (n)
  • 94.51 (a)
chicken
(Gallus gallus)
Aves CCDC88A 36
  • 79.5 (n)
  • 83.07 (a)
CCDC88A 37
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC88A 37
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc88a 36
  • 74.04 (n)
  • 79.31 (a)
zebrafish
(Danio rerio)
Actinopterygii ccdc88aa 37
  • 57 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Girdin 37
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea grdn-1 37
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3137 37
  • 38 (a)
OneToMany
Species with no ortholog for CCDC88A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CCDC88A Gene

ENSEMBL:
Gene Tree for CCDC88A (if available)
TreeFam:
Gene Tree for CCDC88A (if available)

Paralogs for CCDC88A Gene

Paralogs for CCDC88A Gene

genes like me logo Genes that share paralogs with CCDC88A: view

Variants for CCDC88A Gene

Sequence variations from dbSNP and Humsavar for CCDC88A Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs1045613 -- 55,288,954(-) GAAAC(A/G)ACTAG utr-variant-3-prime
rs1045658 -- 55,288,197(-) CACCC(C/T)TCAAC utr-variant-3-prime
rs1047948 -- 55,290,355(-) GTATG(C/T)GTGTG utr-variant-3-prime
rs1062345 -- 55,293,705(-) TATAA(C/G)TGATA intron-variant, downstream-variant-500B
rs1062936 -- 55,288,088(-) TAATA(A/T)AAAAG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for CCDC88A Gene

Variant ID Type Subtype PubMed ID
nsv522016 CNV Gain 19592680
nsv874156 CNV Loss 21882294
nsv874157 CNV Loss 21882294
dgv4145n71 CNV Loss 21882294
nsv457941 CNV Loss 19166990
esv1574765 CNV Insertion 17803354
esv2720088 CNV Deletion 23290073
esv2720089 CNV Deletion 23290073
esv1672727 CNV Insertion 17803354
nsv524437 CNV Loss 19592680
esv275364 CNV Loss 21479260
nsv520581 CNV Loss 19592680
esv2669895 CNV Deletion 23128226

Relevant External Links for CCDC88A Gene

HapMap Linkage Disequilibrium report
CCDC88A

Disorders for CCDC88A Gene

(1) Novoseek inferred disease relationships for CCDC88A Gene

Disease -log(P) Hits PubMed IDs
cancer 0 4

Relevant External Links for CCDC88A

Genetic Association Database (GAD)
CCDC88A
Human Genome Epidemiology (HuGE) Navigator
CCDC88A
genes like me logo Genes that share disorders with CCDC88A: view

No data available for UniProtKB/Swiss-Prot for CCDC88A Gene

Publications for CCDC88A Gene

  1. A novel hook-related protein family and the characterization of hook- related protein 1. (PMID: 15882442) Simpson F. … Wicking C. (Traffic 2005) 3 4 23
  2. Akt/PKB regulates actin organization and cell motility via Girdin/APE. (PMID: 16139227) Enomoto A. … Takahashi M. (Dev. Cell 2005) 3 4 23
  3. Identification and characterization of GIV, a novel Galpha i/s- interacting protein found on COPI, endoplasmic reticulum-Golgi transport vesicles. (PMID: 15749703) Le-Niculescu H. … Farquhar M.G. (J. Biol. Chem. 2005) 2 3 4
  4. A novel protein kinase B (PKB)/AKT-binding protein enhances PKB kinase activity and regulates DNA synthesis. (PMID: 15753085) Anai M. … Asano T. (J. Biol. Chem. 2005) 2 3
  5. A structural determinant that renders G alpha(i) sensitive to activation by GIV/girdin is required to promote cell migration. (PMID: 20157114) Garcia-Marcos M. … Farquhar M.G. (J. Biol. Chem. 2010) 3 23

Products for CCDC88A Gene

  • antibodies-online peptides for CCDC88A
  • antibodies-online antibodies for CCDC88A
  • antibodies-online kits for CCDC88A

Sources for CCDC88A Gene

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