Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 131 (16 Oct 2019)
Sequence version 3 (05 Oct 2010)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Protein Daple

Gene

CCDC88C

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processWnt signaling pathway

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5368598 Negative regulation of TCF-dependent signaling by DVL-interacting proteins

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9P219

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CCDC88C
Synonyms:DAPLE, KIAA1509Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:19967 CCDC88C

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611204 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9P219

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Hydrocephalus, congenital, 1 (HYC1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital hydrocephalus, a disease characterized by onset in utero of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. Affected individuals may have neurologic impairment. HYC1 inheritance is autosomal recessive.
Related information in OMIM
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. SCA40 is an autosomal dominant, slowly progressive form. Brain MRI shows pontocerebellar atrophy along with a global reduction in brain volume.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071981464R → H in SCA40; no effect on subcellular location; increases activation of the JNK signaling pathway; induces apoptosis. 1 PublicationCorresponds to variant dbSNP:rs587782989EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Neurodegeneration, Spinocerebellar ataxia

Organism-specific databases

DisGeNET

More...
DisGeNETi
440193

MalaCards human disease database

More...
MalaCardsi
CCDC88C
MIMi236600 phenotype
616053 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000015133

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
269510 Congenital non-communicating hydrocephalus
423275 Spinocerebellar ataxia type 40

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162381879

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9P219

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CCDC88C

Domain mapping of disease mutations (DMDM)

More...
DMDMi
308153605

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002868641 – 2028Protein DapleAdd BLAST2028

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei227PhosphoserineCombined sources1
Modified residuei239PhosphoserineCombined sources1
Modified residuei486PhosphoserineCombined sources1
Modified residuei1444PhosphoserineCombined sources1
Modified residuei1601PhosphoserineCombined sources1
Modified residuei1806PhosphoserineCombined sources1
Modified residuei1954PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9P219

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9P219

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9P219

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9P219

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9P219

PeptideAtlas

More...
PeptideAtlasi
Q9P219

PRoteomics IDEntifications database

More...
PRIDEi
Q9P219

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
83712 [Q9P219-1]
83713 [Q9P219-2]
83714 [Q9P219-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9P219

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9P219

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000015133 Expressed in 167 organ(s), highest expression level in right uterine tube

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9P219 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9P219 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA005832

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homooligomer.

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

By similarity

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
136368, 16 interactors

Protein interaction database and analysis system

More...
IntActi
Q9P219, 17 interactors

Molecular INTeraction database

More...
MINTi
Q9P219

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000374507

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9P219

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini11 – 131Calponin-homology (CH)PROSITE-ProRule annotationAdd BLAST121

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni2026 – 2028DVL1-bindingBy similarity3

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili247 – 428Sequence analysisAdd BLAST182
Coiled coili456 – 1017Sequence analysisAdd BLAST562
Coiled coili1045 – 1094Sequence analysisAdd BLAST50
Coiled coili1139 – 1393Sequence analysisAdd BLAST255

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi2025 – 2028PDZ-bindingSequence analysis4

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the CCDC88 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4643 Eukaryota
ENOG410YFRJ LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000154785

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000112146

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9P219

Identification of Orthologs from Complete Genome Data

More...
OMAi
HERQAHE

Database of Orthologous Groups

More...
OrthoDBi
59187at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9P219

TreeFam database of animal gene trees

More...
TreeFami
TF320231

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.418.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001715 CH-domain
IPR036872 CH_dom_sf
IPR027719 Daple
IPR008636 Hook-like_fam

The PANTHER Classification System

More...
PANTHERi
PTHR18947:SF31 PTHR18947:SF31, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF05622 HOOK, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50021 CH, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YJX5H0YJX5_HUMAN
Protein Daple
CCDC88C
131Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0A0MR69A0A0A0MR69_HUMAN
Protein Daple
CCDC88C
506Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q0P665Q0P665_HUMAN
CCDC88C protein
CCDC88C
88Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V3S0G3V3S0_HUMAN
Protein Daple
CCDC88C
96Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti73L → F in CQ719279 (Ref. 1) Curated1
Sequence conflicti1785 – 1830Missing in AAH35914 (PubMed:15489334).CuratedAdd BLAST46

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071981464R → H in SCA40; no effect on subcellular location; increases activation of the JNK signaling pathway; induces apoptosis. 1 PublicationCorresponds to variant dbSNP:rs587782989EnsemblClinVar.1
Natural variantiVAR_057777637L → V. Corresponds to variant dbSNP:rs7160308EnsemblClinVar.1
Natural variantiVAR_046613811A → E. Corresponds to variant dbSNP:rs17127223EnsemblClinVar.1
Natural variantiVAR_0466141028A → V. Corresponds to variant dbSNP:rs1970911EnsemblClinVar.1
Natural variantiVAR_0466151992L → P4 PublicationsCorresponds to variant dbSNP:rs941920EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0523891 – 1550Missing in isoform 3. 1 PublicationAdd BLAST1550
Alternative sequenceiVSP_0523901 – 1476Missing in isoform 2. 1 PublicationAdd BLAST1476
Alternative sequenceiVSP_0523911477 – 1481SVGKG → MSVLS in isoform 2. 1 Publication5
Alternative sequenceiVSP_0523921551 – 1566LCEPS…NHRQY → MPSSTLPGWPGSSGGP in isoform 3. 1 PublicationAdd BLAST16

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS45151.1 [Q9P219-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001073883.2, NM_001080414.3 [Q9P219-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000389857; ENSP00000374507; ENSG00000015133 [Q9P219-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
440193

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:440193

UCSC genome browser

More...
UCSCi
uc010aty.4 human [Q9P219-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

SMRiQ9P219
ModBaseiSearch...

Protein-protein interaction databases

BioGridi136368, 16 interactors
IntActiQ9P219, 17 interactors
MINTiQ9P219
STRINGi9606.ENSP00000374507

PTM databases

iPTMnetiQ9P219
PhosphoSitePlusiQ9P219

Polymorphism and mutation databases

BioMutaiCCDC88C
DMDMi308153605

Proteomic databases

EPDiQ9P219
jPOSTiQ9P219
MassIVEiQ9P219
MaxQBiQ9P219
PaxDbiQ9P219
PeptideAtlasiQ9P219
PRIDEiQ9P219
ProteomicsDBi83712 [Q9P219-1]
83713 [Q9P219-2]
83714 [Q9P219-3]

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
440193
DisGeNETi440193

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CCDC88C
HGNCiHGNC:19967 CCDC88C
HPAiHPA005832
MalaCardsiCCDC88C
MIMi236600 phenotype
611204 gene
616053 phenotype
neXtProtiNX_Q9P219
OpenTargetsiENSG00000015133
Orphaneti269510 Congenital non-communicating hydrocephalus
423275 Spinocerebellar ataxia type 40
PharmGKBiPA162381879

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4643 Eukaryota
ENOG410YFRJ LUCA
GeneTreeiENSGT00940000154785
HOGENOMiHOG000112146
InParanoidiQ9P219
OMAiHERQAHE
OrthoDBi59187at2759
PhylomeDBiQ9P219
TreeFamiTF320231

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
CCDC88C human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
440193
PharosiQ9P219

Protein Ontology

More...
PROi
PR:Q9P219

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000015133 Expressed in 167 organ(s), highest expression level in right uterine tube
ExpressionAtlasiQ9P219 baseline and differential
GenevisibleiQ9P219 HS

Family and domain databases

Gene3Di1.10.418.10, 1 hit
InterProiView protein in InterPro
IPR001715 CH-domain
IPR036872 CH_dom_sf
IPR027719 Daple
IPR008636 Hook-like_fam
PANTHERiPTHR18947:SF31 PTHR18947:SF31, 1 hit
PfamiView protein in Pfam
PF05622 HOOK, 1 hit
PROSITEiView protein in PROSITE
PS50021 CH, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDAPLE_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9P219
Secondary accession number(s): Q69YK1
, Q7L1M2, Q86SX7, Q8IYG8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: October 5, 2010
Last modified: October 16, 2019
This is version 131 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again