CCDC88C

Protein identityUniProt · HPA

UniProt accession

Q9P219

Gene

CCDC88C

Ensembl

ENSG00000015133

Chromosome

14

Canonical length

2028 aa

Protein class

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

Subcellular location

Cell Junctions

Quaternary structure

Homooligomer

OverviewNCBI Gene

This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the Wnt signalling pathway. The protein encoded by this gene has a PDZ-domain binding motif in its C-terminus with which it interacts with the dishevelled protein. Dishevelled is a scaffold protein involved in the regulation of the Wnt signaling pathway. The Wnt signaling pathway plays an important role in embryonic development, tissue maintenance, and cancer progression. Mutations in this gene cause autosomal recessive, primary non-syndromic congenital hydrocephalus; a condition characterized by excessive accumulation of cerebrospinal fluid in the ventricles of the brain. [provided by RefSeq, Jan 2013]

Canonical amino-acid sequenceUniProt

2028 residues, UniProt reviewed canonical sequence.

>Q9P219|CCDC88C
     1  MDVTVSELLE LFLQSPLVTW VKTFGPFGSG SQDNLTMYMD LVDGIFLNQI MLQIDPRPTN
    61  QRINKHVNND VNLRIQNLTI LVRNIKTYYQ EVLQQLIVMN LPNVLMIGRD PLSGKSMEEI
   121  KKVLLLVLGC AVQCERKEEF IERIKQLDIE TQAGIVAHIQ EVTHNQENVF DLQWLELPDV
   181  APEELEALSR SMVLHLRRLI DQRDECTELI VDLTQERDYL QAQHPPSPIK SSSADSTPSP
   241  TSSLSSEDKQ HLAVELADTK ARLRRVRQEL EDKTEQLVDT RHEVDQLVLE LQKVKQENIQ
   301  LAADARSARA YRDELDSLRE KANRVERLEL ELTRCKEKLH DVDFYKARME ELREDNIILI
   361  ETKAMLEEQL TAARARGDKV HELEKENLQL KSKLHDLELD RDTDKKRIEE LLEENMVLEI
   421  AQKQSMNESA HLGWELEQLS KNADLSDASR KSFVFELNEC ASSRILKLEK ENQSLQSTIQ
   481  GLRDASLVLE ESGLKCGELE KENHQLSKKI EKLQTQLERE KQSNQDLETL SEELIREKEQ
   541  LQSDMETLKA DKARQIKDLE QEKDHLNRAM WSLRERSQVS SEARMKDVEK ENKALHQTVT
   601  EANGKLSQLE FEKRQLHRDL EQAKEKGERA EKLERELQRL QEENGRLARK VTSLETATEK
   661  VEALEHESQG LQLENRTLRK SLDTLQNVSL QLEGLERDNK QLDAENLELR RLVETMRFTS
   721  TKLAQMEREN QQLEREKEEL RKNVDLLKAL GKKSERLELS YQSVSAENLR LQQSLESSSH
   781  KTQTLESELG ELEAERQALR RDLEALRLAN AQLEGAEKDR KALEQEVAQL EKDKKLLEKE
   841  AKRLWQQVEL KDAVLDDSTA KLSAVEKESR ALDKELARCR DAAGKLKELE KDNRDLTKQV
   901  TVHARTLTTL REDLVLEKLK SQQLSSELDK LSQELEKVGL NRELLLQEDD SGSDTKYKIL
   961  EGRNESALKT TLAMKEEKIV LLEAQMEEKA SLNRQLESEL QMLKKECETL RQNQGEGQHL
  1021  QNSFKHPAGK TAASHQGKEA WGPGHKEATM ELLRVKDRAI ELERNNAALQ AEKQLLKEQL
  1081  QHLETQNVTF SSQILTLQKQ SAFLQEHNTT LQTQTAKLQV ENSTLSSQSA ALTAQYTLLQ
  1141  NHHTAKETEN ESLQRQQEQL TAAYEALLQD HEHLGTLHER QSAEYEALIR QHSCLKTLHR
  1201  NLELEHKELG ERHGDMLKRK AELEEREKVL TTEREALQQE QRTNALAMGE NQRLRGELDR
  1261  VNFLHHQLKG EYEELHAHTK ELKTSLNNAQ LELNRWQARF DELKEQHQTM DISLTKLDNH
  1321  CELLSRLKGN LEEENHHLLS QIQLLSQQNQ MLLEQNMENK EQYHEEQKQY IDKLNALRRH
  1381  KEKLEEKIMD QYKFYDPPPK KKNHWIGAKA LVKLIKPKKE GSRERLKSTV DSPPWQLESS
  1441  DPASPAASQP LRSQAENPDT PALGSNCAEE RDAHNGSVGK GPGDLKPKRG SPHRGSLDRT
  1501  DASTDLAMRS WPSELGSRTC STSATTTAPS NSTPIARHPG RTKGYNSDDN LCEPSLEFEV
  1561  PNHRQYVSRP SSLESSRNTS SNSSPLNLKG SSEQLHGRSE SFSSEDLIPS RDLATLPREA
  1621  STPGRNALGR HEYPLPRNGP LPQEGAQKRG TAPPYVGVRP CSASPSSEMV TLEEFLEESN
  1681  RSSPTHDTPS CRDDLLSDYF RKASDPPAIG GQPGPPAKKE GAKMPTNFVA PTVKMAAPTS
  1741  EGRPLKPGQY VKPNFRLTEA EAPPSVAPRQ AQPPQSLSLG RPRQAPVPPA SHAPASRSAS
  1801  LSRAFSLASA DLLRASGPEA CKQESPQKLG APEALGGRET GSHTLQSPAP PSSHSLARER
  1861  TPLVGKAGSS CQGPGPRSRP LDTRRFSLAP PKEERLAPLH QSATAPAIAT AGAGAAAAGS
  1921  GSNSQLLHFS PAAAPAARTK PKAPPRSGEV ATITPVRAGL SLSEGDGVPG QGCSEGLPAK
  1981  SPGRSPDLAP HLGRALEDCS RGSVSKSSPA SPEPGGDPQT VWYEYGCV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CCDC88C 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)

0.54

Highest tissue expression

38 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CCDC88C.

Disease | AllUniProt

Conditions CCDC88C is implicated in, by any mechanism.

• Hydrocephalus, congenital, 1 (HYC1) MIM:236600
• Spinocerebellar ataxia 40 (SCA40) MIM:616053

Disease | GeneticClinVar

117 pathogenic / likely-pathogenic of 1,879 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hydrocephalus, nonsyndromic, autosomal recessive 1
• Spinocerebellar ataxia type 40
• CCDC88C-related disorder
• Spastic ataxia
• Congenital hydrocephalus

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)

0.45

gnomAD pLI

0

gnomAD missense Z

0.71

DepMap mean gene effect

-0.03

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• apical constriction
• cilium organization
• cytoplasmic microtubule organization
• cytoskeleton-dependent intracellular transport
• microtubule bundle formation
• mucociliary clearance
• negative regulation of canonical Wnt signaling pathway
• negative regulation of microtubule depolymerization
• non-canonical Wnt signaling pathway
• positive regulation of JNK cascade
• protein destabilization
• respiratory basal cell differentiation
• small GTPase-mediated signal transduction
• Wnt signaling pathway, planar cell polarity pathway

Molecular functions

• dynein light intermediate chain binding
• frizzled binding
• G-protein alpha-subunit binding
• guanyl-nucleotide exchange factor activity
• identical protein binding
• microtubule binding
• PDZ domain binding
• protein dimerization activity

Cellular components

• apical junction complex
• cell junction
• centrosome
• cytoplasm
• extracellular region

Protein domainsUniProt · Pfam · InterPro

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

KeywordsUniProt

• Cell junction
• Coiled coil
• Cytoplasm
• Guanine-nucleotide releasing factor
• Neurodegeneration
• Phosphoprotein
• Spinocerebellar ataxia
• Wnt signaling pathway

InteractionsUniProt · HPA

Protein binding partners of CCDC88C in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DVL1