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

Gene ID: 55704, updated on 26-May-2016
Official Symbol
CCDC88Aprovided by HGNC
Official Full Name
coiled-coil domain containing 88Aprovided by HGNC
Primary source
HGNC: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]
Orthologs
Location:
2p16.1
Exon count:
36
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 2 NC_000002.12 (55287842..55419921, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (55514978..55647057, complement)

Chromosome 2 - NC_000002.12Genomic 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 cilia and flagella associated protein 36

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

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 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 
lamellipodium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane organization IDA
Inferred from Direct Assay
more info
PubMed 
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 vesicle IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic, membrane-bounded vesicle IEA
Inferred from Electronic Annotation
more info
 
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
AKT-phosphorylation enhancer
Hook-related protein 1
g alpha-interacting vesicle-associated protein
girders of actin filament
girders of actin filaments

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_001135597.1NP_001129069.1  girdin isoform 1

    See identical proteins and their annotated locations for NP_001129069.1

    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/Swiss-Prot
    Q3V6T2
    UniProtKB/TrEMBL
    O14997
    Related
    ENSP00000338728, OTTHUMP00000201690, ENST00000336838, OTTHUMT00000325313
    Conserved Domains (5) summary
    pfam05622
    Location:18668
    HOOK; HOOK protein
    pfam06156
    Location:10601106
    DUF972; Protein of unknown function (DUF972)
    pfam12718
    Location:719843
    Tropomyosin_1; Tropomyosin like
    cl19252
    Location:825943
    MreC; rod shape-determining protein MreC
    TIGR04523
    Location:4931204
    Mplasa_alph_rch; helix-rich Mycoplasma protein
  2. NM_001254943.1NP_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/Swiss-Prot
    Q3V6T2
    Related
    ENSP00000404431, ENST00000413716
    Conserved Domains (5) summary
    pfam05622
    Location:18668
    HOOK; HOOK protein
    pfam06156
    Location:10601106
    DUF972; Protein of unknown function (DUF972)
    pfam12718
    Location:719843
    Tropomyosin_1; Tropomyosin like
    cl19252
    Location:825943
    MreC; rod shape-determining protein MreC
    TIGR04523
    Location:4931204
    Mplasa_alph_rch; helix-rich Mycoplasma protein
  3. NM_018084.4NP_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/Swiss-Prot
    Q3V6T2
    Related
    ENSP00000263630, OTTHUMP00000200778, ENST00000263630, OTTHUMT00000324406
    Conserved Domains (5) summary
    pfam05622
    Location:18668
    HOOK; HOOK protein
    pfam06156
    Location:10611107
    DUF972; Protein of unknown function (DUF972)
    pfam12718
    Location:719843
    Tropomyosin_1; Tropomyosin like
    cl19252
    Location:825943
    MreC; rod shape-determining protein MreC
    TIGR04523
    Location:4931205
    Mplasa_alph_rch; helix-rich Mycoplasma protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p2 Primary Assembly

    Range
    55287842..55419921 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532967.1XP_011531269.1  

    See identical proteins and their annotated locations for XP_011531269.1

    UniProtKB/Swiss-Prot
    Q3V6T2
    Conserved Domains (5) summary
    pfam05622
    Location:18668
    HOOK; HOOK protein
    pfam06156
    Location:10611107
    DUF972; Protein of unknown function (DUF972)
    pfam12718
    Location:719843
    Tropomyosin_1; Tropomyosin like
    cl19252
    Location:825943
    MreC; rod shape-determining protein MreC
    TIGR04523
    Location:4931205
    Mplasa_alph_rch; helix-rich Mycoplasma protein
  2. XM_011532966.1XP_011531268.1  

    See identical proteins and their annotated locations for XP_011531268.1

    UniProtKB/Swiss-Prot
    Q3V6T2
    Conserved Domains (5) summary
    pfam05622
    Location:18668
    HOOK; HOOK protein
    pfam06156
    Location:10611107
    DUF972; Protein of unknown function (DUF972)
    pfam12718
    Location:719843
    Tropomyosin_1; Tropomyosin like
    cl19252
    Location:825943
    MreC; rod shape-determining protein MreC
    TIGR04523
    Location:4931205
    Mplasa_alph_rch; helix-rich Mycoplasma protein
  3. XM_005264421.1XP_005264478.1  

    Conserved Domains (5) summary
    pfam05622
    Location:18668
    HOOK; HOOK protein
    pfam06156
    Location:10611107
    DUF972; Protein of unknown function (DUF972)
    pfam12718
    Location:719843
    Tropomyosin_1; Tropomyosin like
    cl19252
    Location:825943
    MreC; rod shape-determining protein MreC
    TIGR04523
    Location:4931205
    Mplasa_alph_rch; helix-rich Mycoplasma protein
  4. XM_011532968.1XP_011531270.1  

    Conserved Domains (5) summary
    pfam05622
    Location:18668
    HOOK; HOOK protein
    pfam06156
    Location:10611107
    DUF972; Protein of unknown function (DUF972)
    pfam12718
    Location:719843
    Tropomyosin_1; Tropomyosin like
    cl19252
    Location:825943
    MreC; rod shape-determining protein MreC
    TIGR04523
    Location:4931205
    Mplasa_alph_rch; helix-rich Mycoplasma protein
  5. XM_011532965.1XP_011531267.1  

    See identical proteins and their annotated locations for XP_011531267.1

    UniProtKB/Swiss-Prot
    Q3V6T2
    Related
    ENSP00000410608, ENST00000436346
    Conserved Domains (5) summary
    pfam05622
    Location:18668
    HOOK; HOOK protein
    pfam06156
    Location:10611107
    DUF972; Protein of unknown function (DUF972)
    pfam12718
    Location:719843
    Tropomyosin_1; Tropomyosin like
    cl19252
    Location:825943
    MreC; rod shape-determining protein MreC
    TIGR04523
    Location:4931205
    Mplasa_alph_rch; helix-rich Mycoplasma protein
  6. XM_005264418.3XP_005264475.1  

    Conserved Domains (5) summary
    pfam05622
    Location:18668
    HOOK; HOOK protein
    pfam06156
    Location:10611107
    DUF972; Protein of unknown function (DUF972)
    pfam12718
    Location:692843
    Tropomyosin_1; Tropomyosin like
    cl19252
    Location:825943
    MreC; rod shape-determining protein MreC
    TIGR04523
    Location:4931205
    Mplasa_alph_rch; helix-rich Mycoplasma protein
  7. XM_011532964.1XP_011531266.1  

    Conserved Domains (5) summary
    COG0419
    Location:16752
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    pfam06156
    Location:9631009
    DUF972; Protein of unknown function (DUF972)
    pfam12718
    Location:594745
    Tropomyosin_1; Tropomyosin like
    cl19252
    Location:727845
    MreC; rod shape-determining protein MreC
    TIGR04523
    Location:3951107
    Mplasa_alph_rch; helix-rich Mycoplasma protein
  8. XM_011532969.1XP_011531271.1  

    Conserved Domains (5) summary
    pfam05622
    Location:18607
    HOOK; HOOK protein
    pfam06156
    Location:10611107
    DUF972; Protein of unknown function (DUF972)
    pfam12718
    Location:719843
    Tropomyosin_1; Tropomyosin like
    cl19252
    Location:825943
    MreC; rod shape-determining protein MreC
    TIGR04523
    Location:4931205
    Mplasa_alph_rch; helix-rich Mycoplasma protein
  9. XM_005264426.1XP_005264483.1  

    Conserved Domains (5) summary
    pfam05622
    Location:18607
    HOOK; HOOK protein
    pfam06156
    Location:10611107
    DUF972; Protein of unknown function (DUF972)
    pfam12718
    Location:719843
    Tropomyosin_1; Tropomyosin like
    cl19252
    Location:825943
    MreC; rod shape-determining protein MreC
    TIGR04523
    Location:4931205
    Mplasa_alph_rch; helix-rich Mycoplasma protein

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    55444983..55577340 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)