CCDC88A

Protein identityUniProt · HPA

UniProt accession

Q3V6T2

Gene

CCDC88A

Ensembl

ENSG00000115355

Chromosome

2

Canonical length

1871 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Plasma membrane,Centrosome,Basal body

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1871 residues, UniProt reviewed canonical sequence.

>Q3V6T2|CCDC88A
     1  MENEIFTPLL EQFMTSPLVT WVKTFGPLAA GNGTNLDEYV ALVDGVFLNQ VMLQINPKLE
    61  SQRVNKKVNN DASLRMHNLS ILVRQIKFYY QETLQQLIMM SLPNVLIIGK NPFSEQGTEE
   121  VKKLLLLLLG CAVQCQKKEE FIERIQGLDF DTKAAVAAHI QEVTHNQENV FDLQWMEVTD
   181  MSQEDIEPLL KNMALHLKRL IDERDEHSET IIELSEERDG LHFLPHASSS AQSPCGSPGM
   241  KRTESRQHLS VELADAKAKI RRLRQELEEK TEQLLDCKQE LEQMEIELKR LQQENMNLLS
   301  DARSARMYRD ELDALREKAV RVDKLESEVS RYKERLHDIE FYKARVEELK EDNQVLLETK
   361  TMLEDQLEGT RARSDKLHEL EKENLQLKAK LHDMEMERDM DRKKIEELME ENMTLEMAQK
   421  QSMDESLHLG WELEQISRTS ELSEAPQKSL GHEVNELTSS RLLKLEMENQ SLTKTVEELR
   481  TTVDSVEGNA SKILKMEKEN QRLSKKVEIL ENEIVQEKQS LQNCQNLSKD LMKEKAQLEK
   541  TIETLRENSE RQIKILEQEN EHLNQTVSSL RQRSQISAEA RVKDIEKENK ILHESIKETS
   601  SKLSKIEFEK RQIKKELEHY KEKGERAEEL ENELHHLEKE NELLQKKITN LKITCEKIEA
   661  LEQENSELER ENRKLKKTLD SFKNLTFQLE SLEKENSQLD EENLELRRNV ESLKCASMKM
   721  AQLQLENKEL ESEKEQLKKG LELLKASFKK TERLEVSYQG LDIENQRLQK TLENSNKKIQ
   781  QLESELQDLE MENQTLQKNL EELKISSKRL EQLEKENKSL EQETSQLEKD KKQLEKENKR
   841  LRQQAEIKDT TLEENNVKIG NLEKENKTLS KEIGIYKESC VRLKELEKEN KELVKRATID
   901  IKTLVTLRED LVSEKLKTQQ MNNDLEKLTH ELEKIGLNKE RLLHDEQSTD DSRYKLLESK
   961  LESTLKKSLE IKEEKIAALE ARLEESTNYN QQLRQELKTV KKNYEALKQR QDEERMVQSS
  1021  PPISGEDNKW ERESQETTRE LLKVKDRLIE VERNNATLQA EKQALKTQLK QLETQNNNLQ
  1081  AQILALQRQT VSLQEQNTTL QTQNAKLQVE NSTLNSQSTS LMNQNAQLLI QQSSLENENE
  1141  SVIKEREDLK SLYDSLIKDH EKLELLHERQ ASEYESLISK HGTLKSAHKN LEVEHRDLED
  1201  RYNQLLKQKG QLEDLEKMLK VEQEKMLLEN KNHETVAAEY KKLCGENDRL NHTYSQLLKE
  1261  TEVLQTDHKN LKSLLNNSKL EQTRLEAEFS KLKEQYQQLD ITSTKLNNQC ELLSQLKGNL
  1321  EEENRHLLDQ IQTLMLQNRT LLEQNMESKD LFHVEQRQYI DKLNELRRQK EKLEEKIMDQ
  1381  YKFYDPSPPR RRGNWITLKM RKLIKSKKDI NRERQKSLTL TPTRSDSSEG FLQLPHQDSQ
  1441  DSSSVGSNSL EDGQTLGTKK SSMVALKRLP FLRNRPKDKD KMKACYRRSM SMNDLVQSMV
  1501  LAGQWTGSTE NLEVPDDIST GKRRKELGAM AFSTTAINFS TVNSSAGFRS KQLVNNKDTT
  1561  SFEDISPQGV SDDSSTGSRV HASRPASLDS GRTSTSNSNN NASLHEVKAG AVNNQSRPQS
  1621  HSSGEFSLLH DHEAWSSSGS SPIQYLKRQT RSSPVLQHKI SETLESRHHK IKTGSPGSEV
  1681  VTLQQFLEES NKLTSVQIKS SSQENLLDEV MKSLSVSSDF LGKDKPVSCG LARSVSGKTP
  1741  GDFYDRRTTK PEFLRPGPRK TEDTYFISSA GKPTPGTQGK IKLVKESSLS RQSKDSNPYA
  1801  TLPRASSVIS TAEGTTRRTS IHDFLTKDSR LPISVDSPPA AADSNTTAAS NVDKVQESRN
  1861  SKSRSREQQS S

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CCDC88A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.53

Highest tissue expression

66 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CCDC88A.

Disease | AllUniProt

Conditions CCDC88A is implicated in, by any mechanism.

• PEHO-like syndrome (PEHOL) MIM:617507

Disease | GeneticClinVar

36 pathogenic / likely-pathogenic of 1,172 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• PEHO-like syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.13

gnomAD pLI

1

gnomAD missense Z

2.35

DepMap mean gene effect

-0.16

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• activation of protein kinase activity
• cell migration
• cytoplasmic microtubule organization
• cytoskeleton-dependent intracellular transport
• lamellipodium assembly
• maintenance of protein location in plasma membrane
• membrane organization
• nervous system development
• positive regulation of cilium assembly
• positive regulation of epidermal growth factor receptor signaling pathway
• positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction
• positive regulation of protein localization to cilium
• positive regulation of stress fiber assembly
• regulation of actin cytoskeleton organization
• regulation of cell population proliferation
• regulation of neuron projection development
• small GTPase-mediated signal transduction
• TOR signaling

Molecular functions

• actin binding
• dynein light intermediate chain binding
• epidermal growth factor receptor binding
• G-protein alpha-subunit binding
• GDP-dissociation inhibitor activity
• guanyl-nucleotide exchange factor activity
• insulin receptor binding
• microtubule binding
• phosphatidylinositol binding
• protein homodimerization activity
• protein kinase B binding
• protein kinase C binding
• protein serine/threonine kinase activator activity
• SH2 domain binding
• vascular endothelial growth factor receptor 2 binding

Cellular components

• centriole
• centrosome
• ciliary basal body
• cytoplasm
• cytoplasmic vesicle
• cytosol
• endoplasmic reticulum
• Golgi apparatus
• lamellipodium
• membrane
• nucleoplasm
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Calponin homology domain
• CH domain superfamily
• HOOK, N-terminal
• HOOK domain

KeywordsUniProt

• Cell membrane
• Cell projection
• Cilium biogenesis/degradation
• Coiled coil
• Cytoplasm
• Cytoplasmic vesicle
• Cytoskeleton
• Epilepsy
• Guanine-nucleotide releasing factor
• Intellectual disability
• Membrane
• Neurodegeneration
• Neurogenesis
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of CCDC88A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DISC1