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    CCDC88A coiled-coil domain containing 88A [ Homo sapiens (human) ]

    Gene ID: 55704, updated on 14-May-2013
    Official Symbol
    CCDC88Aprovided by HGNC
    Official Full Name
    coiled-coil domain containing 88Aprovided by HGNC
    Primary source
    HGNC:25523
    See related
    Ensembl:ENSG00000115355; HPRD:10051; HPRD:11131; MIM:609736; Vega:OTTHUMG00000151915
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    APE; GIV; GRDN; HkRP1; GIRDIN; KIAA1212
    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]
    Location :
    2p16.1
    Sequence :
    Chromosome: 2; NC_000002.11 (55514978..55647057, complement)
    See CCDC88A in Epigenomics, MapViewer

    Chromosome 2 - NC_000002.11Genomic Context describing neighboring genes Neighboring gene mitochondrial translational initiation factor 2 Neighboring gene prolyl-tRNA synthetase associated domain containing 1, pseudogene Neighboring gene basic transcription factor 3 pseudogene 5 Neighboring gene coiled-coil domain containing 104

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. Cloutier P, et al. PLoS Genet, 2013 Jan. PMID 23349634.
    2. Deubiquitinase FAM/USP9X interacts with the E3 ubiquitin ligase SMURF1 protein and protects it from ligase activity-dependent self-degradation. Xie Y, et al. J Biol Chem, 2013 Feb 1. PMID 23184937.
    3. STAT3 protein up-regulates Gα-interacting vesicle-associated protein (GIV)/Girdin expression, and GIV enhances STAT3 activation in a positive feedback loop during wound healing and tumor invasion/metastasis. Dunkel Y, et al. J Biol Chem, 2012 Dec 7. PMID 23066027.
    4. Charting the landscape of tandem BRCT domain-mediated protein interactions. Woods NT, et al. Sci Signal, 2012 Sep 18. PMID 22990118.
    5. [Expression and significance of phosphorylated Girdin in breast cancer]. Xu Y, et al. Zhonghua Zhong Liu Za Zhi, 2012 Mar. PMID 22780975.

    See all (38) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. p-Girdin expression is closely correlated with the malignant progression of breast cancer.
      Title: [Expression and significance of phosphorylated Girdin in breast cancer].
    2. STAT3 activation is directly integrated with the receptor tyrosine kinase-GIV-G protein signaling axis.
      Title: STAT3 protein up-regulates Gα-interacting vesicle-associated protein (GIV)/Girdin expression, and GIV enhances STAT3 activation in a positive feedback loop during wound healing and tumor invasion/metastasis.
    3. The Girdin protein may be a potential new early liver metastasis biomarker of colorectal cancer.
      Title: Stem cell gene Girdin: a potential early liver metastasis predictor of colorectal cancer.
    4. These data demonstrate that Girdin is important for efficient cell division
      Title: Girdin locates in centrosome and midbody and plays an important role in cell division.
    5. Girdin regulates cell movement in biological contexts that require directional cell movement
      Title: Involvement of Girdin in the determination of cell polarity during cell migration.
    6. High Girdin expression is associated with glioblastoma.
      Title: Girdin maintains the stemness of glioblastoma stem cells.
    7. This functional characterization of GIV's guanine nucleotide exchange factor motif provides insights into the molecular interactions between nonreceptor GEFs and G proteins and the mechanisms that govern this signal transduction pathway.
      Title: Functional characterization of the guanine nucleotide exchange factor (GEF) motif of GIV protein reveals a threshold effect in signaling.
    8. Tyrosine phosphorylation of the Galpha-interacting protein GIV promotes activation of phosphoinositide 3-kinase during cell migration.
      Title: Tyrosine phosphorylation of the Gα-interacting protein GIV promotes activation of phosphoinositide 3-kinase during cell migration.
    9. SHP-1 antagonizes the action of receptor and non-receptor-tyrosine kinases on GIV and down-regulates the phospho-GIV-PI3K-Akt axis of signaling.
      Title: Src homology domain 2-containing protein-tyrosine phosphatase-1 (SHP-1) binds and dephosphorylates G(alpha)-interacting, vesicle-associated protein (GIV)/Girdin and attenuates the GIV-phosphatidylinositol 3-kinase (PI3K)-Akt signaling pathway.
    10. These results provide mechanistic insights into how reversible modulation of Galpha(i3) activity by AGS3 and GIV maintains the delicate equilibrium between promotion and inhibition of autophagy.
      Title: A GDI (AGS3) and a GEF (GIV) regulate autophagy by balancing G protein activity and growth factor signals.
    Submit: New GeneRIF Correction See all (23)

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    Girdin P31749 AKT1    HPRD  PubMed  
    BioGRID:120829 BioGRID:107056 BARD1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120829 BioGRID:107141 BRAF    BioGRID  PubMed Two-hybrid 
    BioGRID:120829 BioGRID:118061 DISC1    BioGRID  PubMed Two-hybrid 
    BioGRID:120829 BioGRID:120881 EXOC1    BioGRID  PubMed Two-hybrid 
    BioGRID:120829 BioGRID:127352 METTL21A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120829 BioGRID:128220 METTL21C    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120829 BioGRID:123527 NDEL1    BioGRID  PubMed Two-hybrid 
    BioGRID:120829 BioGRID:121134 PARD3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120829 BioGRID:116625 PAXIP1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120829 BioGRID:111553 PRKACA    BioGRID  PubMed Two-hybrid 
    BioGRID:120829 BioGRID:121411 SMURF1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120829 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120829 BioGRID:113365 YWHAH    BioGRID  PubMed Affinity Capture-MS 

    Markers

    Genotypes

    Homology

    Clone Names

    • KIAA1212, DKFZp686D0630

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    microtubule binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    phosphatidylinositol binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    protein kinase B binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    DNA replication IEA
    Inferred from Electronic Annotation
    more info
    		  
    TOR signaling cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    activation of protein kinase B activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    cellular membrane organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    lamellipodium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    microtubule cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of DNA replication ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    regulation of actin cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    regulation of cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    regulation of neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    regulation of protein phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cytoplasmic membrane-bounded vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    lamellipodium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Preferred Names
    girdin
    Names
    girdin
    Hook-related protein 1
    girders of actin filament
    girders of actin filaments
    AKT-phosphorylation enhancer
    g alpha-interacting vesicle-associated protein

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_031944.1 RefSeqGene

      Range
      5001..137080
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001135597.1 → NP_001129069.1  girdin isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB201172, AC012358, BC014905, BC045829, D64159, DA488073
      Consensus CDS
      CCDS46288.1
      UniProtKB/TrEMBL
      O14997
      UniProtKB/Swiss-Prot
      Q3V6T2
      Related
      ENSP00000338728, OTTHUMP00000201690, ENST00000336838, OTTHUMT00000325313
      Conserved Domains (1) summary
      pfam05622
      Location:18 – 607
      Blast Score: 242
      HOOK; HOOK protein

    2. NM_001254943.1 → NP_001241872.1  girdin isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AC012358, BC014905, BC045829, BC144320, DA488073
      Consensus CDS
      CCDS58710.1
      UniProtKB/Swiss-Prot
      Q3V6T2
      Conserved Domains (1) summary
      pfam05622
      Location:18 – 607
      Blast Score: 236
      HOOK; HOOK protein

    3. NM_018084.4 → NP_060554.3  girdin isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site and lacks an exon in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC012358, BC014905, BC045829, BC132736, DA488073
      Consensus CDS
      CCDS33203.1
      UniProtKB/Swiss-Prot
      Q3V6T2
      Related
      ENSP00000263630, OTTHUMP00000200778, ENST00000263630, OTTHUMT00000324406
      Conserved Domains (1) summary
      pfam05622
      Location:18 – 607
      Blast Score: 240
      HOOK; HOOK protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000002.11 Reference GRCh37.p10 Primary Assembly

      Range
      55514978..55647057, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000134.1 Alternate HuRef

      Range
      55250032..55382309, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018913.1 Alternate CHM1_1.0

      Range
      55381231..55513252, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01075266.1 (5964..48203) None
    genomic ABBA01075267.1 None
    genomic AC012358.9 (92248..160151) None
    genomic AC019198.12 AAY14932.1
    genomic AC092176.4 AAX82029.1
    genomic AMYH01010362.1 (342537..474558) None
    genomic CH471053.2 EAX00099.1
      EAX00100.1
      EAX00101.1
    mRNA AB033038.2 BAA86526.2
    mRNA AB125644.1 BAF44475.1
    mRNA AB201172.1 BAE44387.1
    mRNA AF112218.1 AAF17206.1
    mRNA AK001254.1 BAA91584.1
    mRNA AK024717.1 None
    mRNA AK025723.1 None
    mRNA AK124603.1 BAG54056.1
    mRNA AK124761.1 None
    mRNA AK299823.1 BAG61692.1
    mRNA AK307964.1 None
    mRNA AL036590.2 None
    mRNA AV728179.1 None
    mRNA BC014905.1 None
    mRNA BC015539.1 None
    mRNA BC032683.1 None
    mRNA BC035848.1 None
    mRNA BC041160.1 AAH41160.1
    mRNA BC045829.1 None
    mRNA BC056885.1 None
    mRNA BC060037.1 AAH60037.1
    mRNA BC078168.1 AAH78168.1
    mRNA BC092515.1 None
    mRNA BC132736.1 AAI32737.1
    mRNA BC142646.1 None
    mRNA BC142700.1 None
    mRNA BC144320.1 AAI44321.1
    mRNA BU570532.1 None
    mRNA BX537985.1 CAD97945.1
    mRNA BX538154.1 CAD98038.1
    mRNA BX647874.1 None
    mRNA BX648138.1 CAI46020.1
    mRNA D64159.1 BAA21515.1
    mRNA DA488073.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3V6T2.2 GenPept UniProtKB/Swiss-Prot:Q3V6T2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • GAP
        GAP Links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: VarView
        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

      Links to other resources

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