• Gene id: 55704

Gene Summary

• Gene Symbol: CCDC88A   Gene   UCSC   Ensembl
• Aliases: APE, GIRDIN, GIV, GRDN, HkRP1, KIAA1212, PEHO, PEHOL
• Gene name: coiled-coil domain containing 88A
• Alternate names: girdin, AKT-phosphorylation enhancer, Hook-related protein 1, g alpha-interacting vesicle-associated protein, girders of actin filaments,
• Gene location: 2p16.1 (55419855: 55287816)     Exons: 33     NC_000002.12
• Gene summary(Entrez): 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.
• OMIM: 609736

Protein Summary

• Protein general information: Q3V6T2  
  • Name: Girdin (Akt phosphorylation enhancer) (APE) (Coiled coil domain containing protein 88A) (G alpha interacting vesicle associated protein) (GIV) (Girders of actin filament) (Hook related protein 1) (HkRP1)
  • Length: 1871  
  • Mass: 216042
  • Tissue specificity: Expressed ubiquitously. {ECO
• Sequence:

  MENEIFTPLLEQFMTSPLVTWVKTFGPLAAGNGTNLDEYVALVDGVFLNQVMLQINPKLESQRVNKKVNNDASLR
  MHNLSILVRQIKFYYQETLQQLIMMSLPNVLIIGKNPFSEQGTEEVKKLLLLLLGCAVQCQKKEEFIERIQGLDF
  DTKAAVAAHIQEVTHNQENVFDLQWMEVTDMSQEDIEPLLKNMALHLKRLIDERDEHSETIIELSEERDGLHFLP
  HASSSAQSPCGSPGMKRTESRQHLSVELADAKAKIRRLRQELEEKTEQLLDCKQELEQMEIELKRLQQENMNLLS
  DARSARMYRDELDALREKAVRVDKLESEVSRYKERLHDIEFYKARVEELKEDNQVLLETKTMLEDQLEGTRARSD
  KLHELEKENLQLKAKLHDMEMERDMDRKKIEELMEENMTLEMAQKQSMDESLHLGWELEQISRTSELSEAPQKSL
  GHEVNELTSSRLLKLEMENQSLTKTVEELRTTVDSVEGNASKILKMEKENQRLSKKVEILENEIVQEKQSLQNCQ
  NLSKDLMKEKAQLEKTIETLRENSERQIKILEQENEHLNQTVSSLRQRSQISAEARVKDIEKENKILHESIKETS
  SKLSKIEFEKRQIKKELEHYKEKGERAEELENELHHLEKENELLQKKITNLKITCEKIEALEQENSELERENRKL
  KKTLDSFKNLTFQLESLEKENSQLDEENLELRRNVESLKCASMKMAQLQLENKELESEKEQLKKGLELLKASFKK
  TERLEVSYQGLDIENQRLQKTLENSNKKIQQLESELQDLEMENQTLQKNLEELKISSKRLEQLEKENKSLEQETS
  QLEKDKKQLEKENKRLRQQAEIKDTTLEENNVKIGNLEKENKTLSKEIGIYKESCVRLKELEKENKELVKRATID
  IKTLVTLREDLVSEKLKTQQMNNDLEKLTHELEKIGLNKERLLHDEQSTDDSRYKLLESKLESTLKKSLEIKEEK
  IAALEARLEESTNYNQQLRQELKTVKKNYEALKQRQDEERMVQSSPPISGEDNKWERESQETTRELLKVKDRLIE
  VERNNATLQAEKQALKTQLKQLETQNNNLQAQILALQRQTVSLQEQNTTLQTQNAKLQVENSTLNSQSTSLMNQN
  AQLLIQQSSLENENESVIKEREDLKSLYDSLIKDHEKLELLHERQASEYESLISKHGTLKSAHKNLEVEHRDLED
  RYNQLLKQKGQLEDLEKMLKVEQEKMLLENKNHETVAAEYKKLCGENDRLNHTYSQLLKETEVLQTDHKNLKSLL
  NNSKLEQTRLEAEFSKLKEQYQQLDITSTKLNNQCELLSQLKGNLEEENRHLLDQIQTLMLQNRTLLEQNMESKD
  LFHVEQRQYIDKLNELRRQKEKLEEKIMDQYKFYDPSPPRRRGNWITLKMRKLIKSKKDINRERQKSLTLTPTRS
  DSSEGFLQLPHQDSQDSSSVGSNSLEDGQTLGTKKSSMVALKRLPFLRNRPKDKDKMKACYRRSMSMNDLVQSMV
  LAGQWTGSTENLEVPDDISTGKRRKELGAMAFSTTAINFSTVNSSAGFRSKQLVNNKDTTSFEDISPQGVSDDSS
  TGSRVHASRPASLDSGRTSTSNSNNNASLHEVKAGAVNNQSRPQSHSSGEFSLLHDHEAWSSSGSSPIQYLKRQT
  RSSPVLQHKISETLESRHHKIKTGSPGSEVVTLQQFLEESNKLTSVQIKSSSQENLLDEVMKSLSVSSDFLGKDK
  PVSCGLARSVSGKTPGDFYDRRTTKPEFLRPGPRKTEDTYFISSAGKPTPGTQGKIKLVKESSLSRQSKDSNPYA
  TLPRASSVISTAEGTTRRTSIHDFLTKDSRLPISVDSPPAAADSNTTAASNVDKVQESRNSKSRSREQQSS

• Structural information:
  • Protein Domains: (12..13-)
    (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044"-)
  • Interpro: IPR001715  IPR036872  IPR027717  IPR008636  
  • Prosite: PS50021
  • PDB: 6MHF
  • PDBsum: 6MHF
  • DIP: 50784
  • STRING: ENSP00000338728
• Other Databases: GeneCards:  CCDC88A  Malacards:  CCDC88A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051496	positive regulation of stress fiber assembly	IMP	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0051959	dynein light intermediate chain binding	IBA	molecular function
GO:0005813	centrosome	IBA	cellular component
GO:0008017	microtubule binding	IBA	molecular function
GO:0030705	cytoskeleton-dependent intracellular transport	IBA	biological process
GO:0031122	cytoplasmic microtubule organization	IBA	biological process
GO:0010975	regulation of neuron projection development	ISS	biological process
GO:0031929	TOR signaling	ISS	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0016477	cell migration	IEA	biological process
GO:0032956	regulation of actin cytoskeleton organization	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0006260	DNA replication	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030142	COPI-coated Golgi to ER transport vesicle	IEA	cellular component
GO:0043422	protein kinase B binding	IEA	molecular function
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0010975	regulation of neuron projection development	IEA	biological process
GO:0008017	microtubule binding	IEA	molecular function
GO:0031682	G-protein gamma-subunit binding	IEA	molecular function
GO:0032148	activation of protein kinase B activity	IEA	biological process
GO:0031929	TOR signaling	IEA	biological process
GO:0031252	cell leading edge	IEA	cellular component
GO:0006275	regulation of DNA replication	IEA	biological process
GO:0001932	regulation of protein phosphorylation	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0030027	lamellipodium	IEA	cellular component
GO:0005814	centriole	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005092	GDP-dissociation inhibitor activity	IDA	molecular function
GO:0007264	small GTPase mediated signal transduction	IDA	biological process
GO:0035091	phosphatidylinositol binding	IDA	molecular function
GO:0030027	lamellipodium	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0007264	small GTPase mediated signal transduction	IDA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0072660	maintenance of protein location in plasma membrane	IDA	biological process
GO:0045742	positive regulation of epidermal growth factor receptor signaling pathway	IDA	biological process
GO:0007264	small GTPase mediated signal transduction	IDA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0032147	activation of protein kinase activity	IDA	biological process
GO:0007264	small GTPase mediated signal transduction	IDA	biological process
GO:0036064	ciliary basal body	IDA	cellular component
GO:0061024	membrane organization	IDA	biological process
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0003779	actin binding	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:1903566	positive regulation of protein localization to cilium	IMP	biological process
GO:0043184	vascular endothelial growth factor receptor 2 binding	IPI	molecular function
GO:0005158	insulin receptor binding	IPI	molecular function
GO:0032956	regulation of actin cytoskeleton organization	IMP	biological process
GO:0032148	activation of protein kinase B activity	ISS	biological process
GO:0001932	regulation of protein phosphorylation	ISS	biological process
GO:0005080	protein kinase C binding	IPI	molecular function
GO:0005154	epidermal growth factor receptor binding	IPI	molecular function
GO:0043422	protein kinase B binding	IPI	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0030032	lamellipodium assembly	IMP	biological process
GO:0001965	G-protein alpha-subunit binding	IPI	molecular function
GO:0001965	G-protein alpha-subunit binding	IPI	molecular function
GO:0001965	G-protein alpha-subunit binding	IPI	molecular function
GO:0001965	G-protein alpha-subunit binding	IPI	molecular function
GO:0042169	SH2 domain binding	IPI	molecular function
GO:0006275	regulation of DNA replication	ISS	biological process
GO:0001965	G-protein alpha-subunit binding	IPI	molecular function
GO:0045724	positive regulation of cilium assembly	IMP	biological process
GO:0005154	epidermal growth factor receptor binding	IPI	molecular function
GO:0042127	regulation of cell population proliferation	ISS	biological process
GO:0016477	cell migration	IMP	biological process
GO:0008017	microtubule binding	ISS	molecular function

Diseases

Associated diseases	References
PEHO-like syndrome	KEGG:H02338
PEHO-like syndrome	KEGG:H02338
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R