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

    Gene ID: 55704, updated on 9-Dec-2024

    Summary

    Official Symbol
    CCDC88Aprovided by HGNC
    Official Full Name
    coiled-coil domain containing 88Aprovided by HGNC
    Primary source
    HGNC:HGNC:25523
    See related
    Ensembl:ENSG00000115355 MIM:609736; AllianceGenome:HGNC:25523
    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; PEHO; HkRP1; PEHOL; 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]
    Expression
    Broad expression in testis (RPKM 20.8), brain (RPKM 15.3) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CCDC88A in Genome Data Viewer
    Location:
    2p16.1
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (55287842..55419856, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (55285045..55417059, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (55514978..55646992, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene mitochondrial translational initiation factor 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:55496405-55497228 Neighboring gene Sharpr-MPRA regulatory regions 8685 and 822 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:55508487-55509380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:55509381-55510272 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:55516372-55516872 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:55516873-55517373 Neighboring gene prolyl-tRNA synthetase associated domain containing 1, pseudogene Neighboring gene Sharpr-MPRA regulatory region 7699 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:55530138-55530638 Neighboring gene uncharacterized LOC124907768 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:55635985-55636565 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11497 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11498 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11499 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:55669177-55669678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:55669679-55670178 Neighboring gene basic transcription factor 3 pseudogene 5 Neighboring gene RNA, U6 small nuclear 775, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    PEHO-like syndrome
    MedGen: C1850056 OMIM: 617507 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1212, DKFZp686D0630

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G-protein alpha-subunit binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables G-protein gamma-subunit binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables GDP-dissociation inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables SH2 domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables actin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables dynein light intermediate chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables epidermal growth factor receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables insulin receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables microtubule binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphatidylinositol binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase B binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase C binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein serine/threonine kinase activator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables vascular endothelial growth factor receptor 2 binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in TOR signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in activation of protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cytoplasmic microtubule organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cytoskeleton-dependent intracellular transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in lamellipodium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in maintenance of protein location in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in membrane organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of epidermal growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of protein localization to cilium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of stress fiber assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of actin cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cell population proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in small GTPase-mediated signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in COPI-coated Golgi to ER transport vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lamellipodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    girdin
    Names
    AKT-phosphorylation enhancer
    Hook-related protein 1
    g alpha-interacting vesicle-associated protein
    girders of actin filaments

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5066..137080
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001135597.2NP_001129069.1  girdin isoform 1

      See identical proteins and their annotated locations for NP_001129069.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AB201172, AC012358, BC014905, BC045829, D64159, DA488073
      Consensus CDS
      CCDS46288.1
      UniProtKB/TrEMBL
      A0A2U3TZV9
      Related
      ENSP00000338728.6, ENST00000336838.10
      Conserved Domains (7) summary
      TIGR04523
      Location:4931204
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      pfam05622
      Location:18584
      HOOK; HOOK protein
      pfam06156
      Location:10601106
      DUF972; Protein of unknown function (DUF972)
      pfam09455
      Location:488636
      Cas_DxTHG; CRISPR-associated (Cas) DxTHG family
      pfam10211
      Location:628702
      Ax_dynein_light; Axonemal dynein light chain
      cl09111
      Location:766859
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
      cl19252
      Location:825943
      MreC; rod shape-determining protein MreC
    2. NM_001254943.2NP_001241872.1  girdin isoform 3

      See identical proteins and their annotated locations for NP_001241872.1

      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/TrEMBL
      A0A2U3TZV9
      Related
      ENSP00000493703.1, ENST00000646796.1
      Conserved Domains (7) summary
      TIGR04523
      Location:4931204
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      pfam05622
      Location:18584
      HOOK; HOOK protein
      pfam06156
      Location:10601106
      DUF972; Protein of unknown function (DUF972)
      pfam09455
      Location:488636
      Cas_DxTHG; CRISPR-associated (Cas) DxTHG family
      pfam10211
      Location:628702
      Ax_dynein_light; Axonemal dynein light chain
      cl09111
      Location:766859
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
      cl19252
      Location:825943
      MreC; rod shape-determining protein MreC
    3. NM_001365480.1NP_001352409.1  girdin isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC012358, AC019198, AC092176
      Consensus CDS
      CCDS92755.1
      UniProtKB/Swiss-Prot
      A1IGE7, B7ZM78, C9JG83, Q3V6T2, Q53SF1, Q581G3, Q5HYD0, Q7Z339, Q7Z3C5
      UniProtKB/TrEMBL
      A0A2U3TZV9
      Related
      ENSP00000410608.1, ENST00000436346.7
      Conserved Domains (1) summary
      cl25732
      Location:4911331
      SMC_N; RecF/RecN/SMC N terminal domain
    4. NM_018084.5NP_060554.3  girdin isoform 2

      See identical proteins and their annotated locations for NP_060554.3

      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/TrEMBL
      A0A2U3TZV9
      Related
      ENSP00000263630.8, ENST00000263630.13
      Conserved Domains (7) summary
      TIGR04523
      Location:4931205
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      pfam05622
      Location:18584
      HOOK; HOOK protein
      pfam06156
      Location:10611107
      DUF972; Protein of unknown function (DUF972)
      pfam09455
      Location:488636
      Cas_DxTHG; CRISPR-associated (Cas) DxTHG family
      pfam10211
      Location:628702
      Ax_dynein_light; Axonemal dynein light chain
      cl09111
      Location:766859
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
      cl19252
      Location:825943
      MreC; rod shape-determining protein MreC

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      55287842..55419856 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      55285045..55417059 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)