Format

Send to:

Choose Destination

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

Gene ID: 55704, updated on 11-Sep-2019

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
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

Genomic context

See CCDC88A in Genome Data Viewer
Location:
2p16.1
Exon count:
33
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (55287817..55419856, 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 ribosomal protein S27a 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 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
not available

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Mesodermal Commitment Pathway, organism-specific biosystem (from WikiPathways)
    Mesodermal Commitment Pathway, organism-specific biosystemModel depicting mesodermal specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell l...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1212, DKFZp686D0630

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G-protein gamma-subunit binding IEA
Inferred from Electronic Annotation
more info
 
actin binding IDA
Inferred from Direct Assay
more info
PubMed 
dynein light intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule binding IBA
Inferred from Biological aspect of Ancestor
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 binding IPI
Inferred from Physical Interaction
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 
cytoplasmic microtubule organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoskeleton-dependent intracellular transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lamellipodium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane organization IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein localization to cilium IMP
Inferred from Mutant Phenotype
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
COPI-coated Golgi to ER transport vesicle IEA
Inferred from Electronic Annotation
more info
 
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
centriole IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 

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)

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/Swiss-Prot
    Q3V6T2
    UniProtKB/TrEMBL
    O14997
    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/Swiss-Prot
    Q3V6T2
    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
    Related
    ENSP00000410608.1, ENST00000436346.6
    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/Swiss-Prot
    Q3V6T2
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    55287817..55419856 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532967.3XP_011531269.1  girdin isoform X9

    See identical proteins and their annotated locations for XP_011531269.1

    UniProtKB/Swiss-Prot
    Q3V6T2
    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
  2. XM_017004481.2XP_016859970.1  girdin isoform X10

    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
  3. XM_011532966.3XP_011531268.1  girdin isoform X7

    See identical proteins and their annotated locations for XP_011531268.1

    UniProtKB/Swiss-Prot
    Q3V6T2
    Related
    ENSP00000495919.1, ENST00000642200.1
    Conserved Domains (1) summary
    cl25732
    Location:4911331
    SMC_N; RecF/RecN/SMC N terminal domain
  4. XM_005264421.3XP_005264478.1  girdin isoform X8

    Related
    ENSP00000496148.1, ENST00000647401.1
    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
  5. XM_011532968.3XP_011531270.1  girdin isoform X10

    Related
    ENSP00000404431.3, ENST00000413716.7
    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
  6. XM_017004480.2XP_016859969.1  girdin isoform X6

  7. XM_017004476.2XP_016859965.1  girdin isoform X2

  8. XM_017004479.2XP_016859968.1  girdin isoform X5

  9. XM_017004478.2XP_016859967.1  girdin isoform X4

  10. XM_017004477.2XP_016859966.1  girdin isoform X3

  11. XM_005264418.5XP_005264475.1  girdin isoform X1

    Conserved Domains (8) 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 ...
    cl19219
    Location:719808
    DUF342; Protein of unknown function (DUF342)
    cl19252
    Location:825943
    MreC; rod shape-determining protein MreC
  12. XM_005264426.3XP_005264483.1  girdin isoform X11

    Related
    ENSP00000495712.1, ENST00000645477.1
    Conserved Domains (5) 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
    cl19252
    Location:825943
    MreC; rod shape-determining protein MreC
Support Center