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Protein

Protein Daple

Gene

CCDC88C

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Negative regulator of the canonical Wnt signaling pathway, acting downstream of DVL to inhibit CTNNB1/Beta-catenin stabilization (By similarity). May also activate the JNK signaling pathway (PubMed:25062847).By similarity1 Publication

GO - Molecular functioni

  • PDZ domain binding Source: UniProtKB
  • protein self-association Source: UniProtKB

GO - Biological processi

  • protein destabilization Source: UniProtKB
  • protein homooligomerization Source: UniProtKB
  • regulation of protein phosphorylation Source: UniProtKB
  • stress-activated protein kinase signaling cascade Source: UniProtKB
  • Wnt signaling pathway Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Wnt signaling pathway

Enzyme and pathway databases

ReactomeiR-HSA-5368598. Negative regulation of TCF-dependent signaling by DVL-interacting proteins.
SIGNORiQ9P219.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein Daple
Alternative name(s):
Coiled-coil domain-containing protein 88C
Dvl-associating protein with a high frequency of leucine residues
Short name:
hDaple
Hook-related protein 2
Short name:
HkRP2
Gene namesi
Name:CCDC88C
Synonyms:DAPLE, KIAA1509Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:19967. CCDC88C.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Hydrocephalus, non-syndromic, autosomal recessive 1 (HYC1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by a disturbance of cerebrospinal fluid circulation causing accumulation of ventricular cerebrospinal fluid, which results in progressive ventricular dilatation with onset in utero. Affected individuals may have neurologic impairment.
See also OMIM:236600
Spinocerebellar ataxia 40 (SCA40)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA38 is an autosomal dominant form characterized by adult-onset of slowly progressive gait ataxia accompanied by nystagmus. Brain MRI shows cerebellar atrophy.
See also OMIM:616053
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti464 – 4641R → H in SCA40; no effect on subcellular location; increases activation of the JNK signaling pathway; induces apoptosis. 1 Publication
VAR_071981

Keywords - Diseasei

Disease mutation, Neurodegeneration, Spinocerebellar ataxia

Organism-specific databases

MalaCardsiCCDC88C.
MIMi236600. phenotype.
616053. phenotype.
Orphaneti269510. Congenital non-communicating hydrocephalus.
PharmGKBiPA162381879.

Polymorphism and mutation databases

BioMutaiCCDC88C.
DMDMi308153605.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 20282028Protein DaplePRO_0000286864Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1444 – 14441PhosphoserineCombined sources
Modified residuei1806 – 18061PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9P219.
MaxQBiQ9P219.
PaxDbiQ9P219.
PRIDEiQ9P219.

PTM databases

iPTMnetiQ9P219.
PhosphoSiteiQ9P219.

Expressioni

Gene expression databases

BgeeiQ9P219.
CleanExiHS_CCDC88C.
ExpressionAtlasiQ9P219. baseline and differential.
GenevisibleiQ9P219. HS.

Organism-specific databases

HPAiHPA005832.

Interactioni

Subunit structurei

Homooligomer. Interacts with the PDZ domain of DVL1 (By similarity).By similarity

GO - Molecular functioni

  • PDZ domain binding Source: UniProtKB
  • protein self-association Source: UniProtKB

Protein-protein interaction databases

BioGridi136368. 13 interactions.
IntActiQ9P219. 11 interactions.
STRINGi9606.ENSP00000374507.

Structurei

3D structure databases

ProteinModelPortaliQ9P219.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni2026 – 20283DVL1-bindingBy similarity

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili247 – 428182Sequence analysisAdd
BLAST
Coiled coili456 – 1017562Sequence analysisAdd
BLAST
Coiled coili1045 – 109450Sequence analysisAdd
BLAST
Coiled coili1139 – 1393255Sequence analysisAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi2025 – 20284PDZ-bindingSequence analysis

Sequence similaritiesi

Belongs to the CCDC88 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG4643. Eukaryota.
ENOG410YFRJ. LUCA.
GeneTreeiENSGT00690000101702.
HOGENOMiHOG000112146.
HOVERGENiHBG057867.
InParanoidiQ9P219.
OMAiKEQHQSM.
OrthoDBiEOG7N0C3V.
PhylomeDBiQ9P219.
TreeFamiTF320231.

Family and domain databases

InterProiIPR027719. Daple.
IPR008636. Hook-related_fam.
[Graphical view]
PANTHERiPTHR18947. PTHR18947. 2 hits.
PTHR18947:SF31. PTHR18947:SF31. 2 hits.
PfamiPF05622. HOOK. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 12 Publications (identifier: Q9P219-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MDVTVSELLE LFLQSPLVTW VKTFGPFGSG SQDNLTMYMD LVDGIFLNQI
60 70 80 90 100
MLQIDPRPTN QRINKHVNND VNLRIQNLTI LVRNIKTYYQ EVLQQLIVMN
110 120 130 140 150
LPNVLMIGRD PLSGKSMEEI KKVLLLVLGC AVQCERKEEF IERIKQLDIE
160 170 180 190 200
TQAGIVAHIQ EVTHNQENVF DLQWLELPDV APEELEALSR SMVLHLRRLI
210 220 230 240 250
DQRDECTELI VDLTQERDYL QAQHPPSPIK SSSADSTPSP TSSLSSEDKQ
260 270 280 290 300
HLAVELADTK ARLRRVRQEL EDKTEQLVDT RHEVDQLVLE LQKVKQENIQ
310 320 330 340 350
LAADARSARA YRDELDSLRE KANRVERLEL ELTRCKEKLH DVDFYKARME
360 370 380 390 400
ELREDNIILI ETKAMLEEQL TAARARGDKV HELEKENLQL KSKLHDLELD
410 420 430 440 450
RDTDKKRIEE LLEENMVLEI AQKQSMNESA HLGWELEQLS KNADLSDASR
460 470 480 490 500
KSFVFELNEC ASSRILKLEK ENQSLQSTIQ GLRDASLVLE ESGLKCGELE
510 520 530 540 550
KENHQLSKKI EKLQTQLERE KQSNQDLETL SEELIREKEQ LQSDMETLKA
560 570 580 590 600
DKARQIKDLE QEKDHLNRAM WSLRERSQVS SEARMKDVEK ENKALHQTVT
610 620 630 640 650
EANGKLSQLE FEKRQLHRDL EQAKEKGERA EKLERELQRL QEENGRLARK
660 670 680 690 700
VTSLETATEK VEALEHESQG LQLENRTLRK SLDTLQNVSL QLEGLERDNK
710 720 730 740 750
QLDAENLELR RLVETMRFTS TKLAQMEREN QQLEREKEEL RKNVDLLKAL
760 770 780 790 800
GKKSERLELS YQSVSAENLR LQQSLESSSH KTQTLESELG ELEAERQALR
810 820 830 840 850
RDLEALRLAN AQLEGAEKDR KALEQEVAQL EKDKKLLEKE AKRLWQQVEL
860 870 880 890 900
KDAVLDDSTA KLSAVEKESR ALDKELARCR DAAGKLKELE KDNRDLTKQV
910 920 930 940 950
TVHARTLTTL REDLVLEKLK SQQLSSELDK LSQELEKVGL NRELLLQEDD
960 970 980 990 1000
SGSDTKYKIL EGRNESALKT TLAMKEEKIV LLEAQMEEKA SLNRQLESEL
1010 1020 1030 1040 1050
QMLKKECETL RQNQGEGQHL QNSFKHPAGK TAASHQGKEA WGPGHKEATM
1060 1070 1080 1090 1100
ELLRVKDRAI ELERNNAALQ AEKQLLKEQL QHLETQNVTF SSQILTLQKQ
1110 1120 1130 1140 1150
SAFLQEHNTT LQTQTAKLQV ENSTLSSQSA ALTAQYTLLQ NHHTAKETEN
1160 1170 1180 1190 1200
ESLQRQQEQL TAAYEALLQD HEHLGTLHER QSAEYEALIR QHSCLKTLHR
1210 1220 1230 1240 1250
NLELEHKELG ERHGDMLKRK AELEEREKVL TTEREALQQE QRTNALAMGE
1260 1270 1280 1290 1300
NQRLRGELDR VNFLHHQLKG EYEELHAHTK ELKTSLNNAQ LELNRWQARF
1310 1320 1330 1340 1350
DELKEQHQTM DISLTKLDNH CELLSRLKGN LEEENHHLLS QIQLLSQQNQ
1360 1370 1380 1390 1400
MLLEQNMENK EQYHEEQKQY IDKLNALRRH KEKLEEKIMD QYKFYDPPPK
1410 1420 1430 1440 1450
KKNHWIGAKA LVKLIKPKKE GSRERLKSTV DSPPWQLESS DPASPAASQP
1460 1470 1480 1490 1500
LRSQAENPDT PALGSNCAEE RDAHNGSVGK GPGDLKPKRG SPHRGSLDRT
1510 1520 1530 1540 1550
DASTDLAMRS WPSELGSRTC STSATTTAPS NSTPIARHPG RTKGYNSDDN
1560 1570 1580 1590 1600
LCEPSLEFEV PNHRQYVSRP SSLESSRNTS SNSSPLNLKG SSEQLHGRSE
1610 1620 1630 1640 1650
SFSSEDLIPS RDLATLPREA STPGRNALGR HEYPLPRNGP LPQEGAQKRG
1660 1670 1680 1690 1700
TAPPYVGVRP CSASPSSEMV TLEEFLEESN RSSPTHDTPS CRDDLLSDYF
1710 1720 1730 1740 1750
RKASDPPAIG GQPGPPAKKE GAKMPTNFVA PTVKMAAPTS EGRPLKPGQY
1760 1770 1780 1790 1800
VKPNFRLTEA EAPPSVAPRQ AQPPQSLSLG RPRQAPVPPA SHAPASRSAS
1810 1820 1830 1840 1850
LSRAFSLASA DLLRASGPEA CKQESPQKLG APEALGGRET GSHTLQSPAP
1860 1870 1880 1890 1900
PSSHSLARER TPLVGKAGSS CQGPGPRSRP LDTRRFSLAP PKEERLAPLH
1910 1920 1930 1940 1950
QSATAPAIAT AGAGAAAAGS GSNSQLLHFS PAAAPAARTK PKAPPRSGEV
1960 1970 1980 1990 2000
ATITPVRAGL SLSEGDGVPG QGCSEGLPAK SPGRSPDLAP HLGRALEDCS
2010 2020
RGSVSKSSPA SPEPGGDPQT VWYEYGCV
Length:2,028
Mass (Da):228,230
Last modified:October 5, 2010 - v3
Checksum:iF4A1ED4929ABA076
GO
Isoform 21 Publication (identifier: Q9P219-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1476: Missing.
     1477-1481: SVGKG → MSVLS

Note: No experimental confirmation available.Curated
Show »
Length:552
Mass (Da):57,526
Checksum:i15F9EE1F45BD4032
GO
Isoform 31 Publication (identifier: Q9P219-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1550: Missing.
     1551-1566: LCEPSLEFEVPNHRQY → MPSSTLPGWPGSSGGP

Note: Due to intron retention. No experimental confirmation available.
Show »
Length:478
Mass (Da):49,253
Checksum:iC0FA82C2C71F8FB5
GO

Sequence cautioni

The sequence BAA96033.2 differs from that shown.Contaminating sequence. Sequence of unknown origin in the N-terminal part.Curated
The sequence CAH10602.1 differs from that shown. Reason: Frameshift at position 1738. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti73 – 731L → F in CQ719279 (Ref. 1) Curated
Sequence conflicti1785 – 183046Missing in AAH35914 (PubMed:15489334).CuratedAdd
BLAST

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti464 – 4641R → H in SCA40; no effect on subcellular location; increases activation of the JNK signaling pathway; induces apoptosis. 1 Publication
VAR_071981
Natural varianti637 – 6371L → V.
Corresponds to variant rs7160308 [ dbSNP | Ensembl ].
VAR_057777
Natural varianti811 – 8111A → E.
Corresponds to variant rs17127223 [ dbSNP | Ensembl ].
VAR_046613
Natural varianti1028 – 10281A → V.
Corresponds to variant rs1970911 [ dbSNP | Ensembl ].
VAR_046614
Natural varianti1992 – 19921L → P.4 Publications
Corresponds to variant rs941920 [ dbSNP | Ensembl ].
VAR_046615

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 15501550Missing in isoform 3. 1 PublicationVSP_052389Add
BLAST
Alternative sequencei1 – 14761476Missing in isoform 2. 1 PublicationVSP_052390Add
BLAST
Alternative sequencei1477 – 14815SVGKG → MSVLS in isoform 2. 1 PublicationVSP_052391
Alternative sequencei1551 – 156616LCEPS…NHRQY → MPSSTLPGWPGSSGGP in isoform 3. 1 PublicationVSP_052392Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CQ719279 mRNA. No translation available.
AL133153 Genomic DNA. No translation available.
AL135818 Genomic DNA. No translation available.
BC028565 mRNA. Translation: AAH28565.2.
BC035914 mRNA. Translation: AAH35914.1.
BX248302 mRNA. Translation: CAD62629.1.
AB040942 mRNA. Translation: BAA96033.2. Sequence problems.
AL833046 mRNA. Translation: CAH10602.1. Sequence problems.
CCDSiCCDS45151.1. [Q9P219-1]
RefSeqiNP_001073883.2. NM_001080414.3. [Q9P219-1]
UniGeneiHs.525536.

Genome annotation databases

EnsembliENST00000389857; ENSP00000374507; ENSG00000015133. [Q9P219-1]
GeneIDi440193.
KEGGihsa:440193.
UCSCiuc010aty.4. human. [Q9P219-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CQ719279 mRNA. No translation available.
AL133153 Genomic DNA. No translation available.
AL135818 Genomic DNA. No translation available.
BC028565 mRNA. Translation: AAH28565.2.
BC035914 mRNA. Translation: AAH35914.1.
BX248302 mRNA. Translation: CAD62629.1.
AB040942 mRNA. Translation: BAA96033.2. Sequence problems.
AL833046 mRNA. Translation: CAH10602.1. Sequence problems.
CCDSiCCDS45151.1. [Q9P219-1]
RefSeqiNP_001073883.2. NM_001080414.3. [Q9P219-1]
UniGeneiHs.525536.

3D structure databases

ProteinModelPortaliQ9P219.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi136368. 13 interactions.
IntActiQ9P219. 11 interactions.
STRINGi9606.ENSP00000374507.

PTM databases

iPTMnetiQ9P219.
PhosphoSiteiQ9P219.

Polymorphism and mutation databases

BioMutaiCCDC88C.
DMDMi308153605.

Proteomic databases

EPDiQ9P219.
MaxQBiQ9P219.
PaxDbiQ9P219.
PRIDEiQ9P219.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000389857; ENSP00000374507; ENSG00000015133. [Q9P219-1]
GeneIDi440193.
KEGGihsa:440193.
UCSCiuc010aty.4. human. [Q9P219-1]

Organism-specific databases

CTDi440193.
GeneCardsiCCDC88C.
H-InvDBHIX0011891.
HGNCiHGNC:19967. CCDC88C.
HPAiHPA005832.
MalaCardsiCCDC88C.
MIMi236600. phenotype.
611204. gene.
616053. phenotype.
neXtProtiNX_Q9P219.
Orphaneti269510. Congenital non-communicating hydrocephalus.
PharmGKBiPA162381879.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4643. Eukaryota.
ENOG410YFRJ. LUCA.
GeneTreeiENSGT00690000101702.
HOGENOMiHOG000112146.
HOVERGENiHBG057867.
InParanoidiQ9P219.
OMAiKEQHQSM.
OrthoDBiEOG7N0C3V.
PhylomeDBiQ9P219.
TreeFamiTF320231.

Enzyme and pathway databases

ReactomeiR-HSA-5368598. Negative regulation of TCF-dependent signaling by DVL-interacting proteins.
SIGNORiQ9P219.

Miscellaneous databases

ChiTaRSiCCDC88C. human.
GenomeRNAii440193.
PROiQ9P219.
SOURCEiSearch...

Gene expression databases

BgeeiQ9P219.
CleanExiHS_CCDC88C.
ExpressionAtlasiQ9P219. baseline and differential.
GenevisibleiQ9P219. HS.

Family and domain databases

InterProiIPR027719. Daple.
IPR008636. Hook-related_fam.
[Graphical view]
PANTHERiPTHR18947. PTHR18947. 2 hits.
PTHR18947:SF31. PTHR18947:SF31. 2 hits.
PfamiPF05622. HOOK. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Kits, such as nucleic acid arrays, comprising a majority of human exons or transcripts, for detecting expression and other uses thereof."
    Venter J.C., Adams M.C., Li P.W., Myers E.W.
    Patent number WO02068579, 06-SEP-2002
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT PRO-1992.
  2. "The DNA sequence and analysis of human chromosome 14."
    Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
    , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
    Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1658-2028, VARIANT PRO-1992.
    Tissue: LymphImported.
  4. "Full-length cDNA libraries and normalization."
    Li W.B., Gruber C., Jessee J., Polayes D.
    Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-1748 (ISOFORM 3).
    Tissue: B-cellImported.
  5. "Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
    DNA Res. 7:143-150(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 707-2028 (ISOFORM 1), VARIANT PRO-1992.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1687-2028, VARIANT PRO-1992.
    Tissue: Stomach.
  7. "A novel hook-related protein family and the characterization of hook-related protein 1."
    Simpson F., Martin S., Evans T.M., Kerr M., James D.E., Parton R.G., Teasdale R.D., Wicking C.
    Traffic 6:442-458(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION.
  8. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1806, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1444, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  10. "Disturbed Wnt signalling due to a mutation in CCDC88C causes an autosomal recessive non-syndromic hydrocephalus with medial diverticulum."
    Ekici A.B., Hilfinger D., Jatzwauk M., Thiel C.T., Wenzel D., Lorenz I., Boltshauser E., Goecke T.W., Staatz G., Morris-Rosendahl D.J., Sticht H., Hehr U., Reis A., Rauch A.
    Mol. Syndromol. 1:99-112(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN HYC1.
  11. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  12. "Two novel CCDC>88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus."
    Drielsma A., Jalas C., Simonis N., Desir J., Simanovsky N., Pirson I., Elpeleg O., Abramowicz M., Edvardson S.
    J. Med. Genet. 49:708-712(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN HYC1.
  13. "A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia."
    Tsoi H., Yu A.C., Chen Z.S., Ng N.K., Chan A.Y., Yuen L.Y., Abrigo J.M., Tsang S.Y., Tsui S.K., Tong T.M., Lo I.F., Lam S.T., Mok V.C., Wong L.K., Ngo J.C., Lau K.F., Chan T.F., Chan H.Y.
    J. Med. Genet. 51:590-595(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN SCA40, VARIANT SCA40 HIS-464, CHARACTERIZATION OF VARIANT SCA40 HIS-464, FUNCTION, SUBCELLULAR LOCATION.

Entry informationi

Entry nameiDAPLE_HUMAN
AccessioniPrimary (citable) accession number: Q9P219
Secondary accession number(s): Q69YK1
, Q7L1M2, Q86SX7, Q8IYG8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: October 5, 2010
Last modified: June 8, 2016
This is version 108 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.