Ccdc88c coiled-coil domain containing 88C [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ccdc88cprovided by MGI
Official Full Name: coiled-coil domain containing 88Cprovided by MGI
Primary source: MGI:MGI:1915589
See related: Ensembl:ENSMUSG00000021182 AllianceGenome:MGI:1915589
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Daple; mKIAA1509; 0610010D24Rik
Summary: Enables PDZ domain binding activity; microtubule binding activity; and protein dimerization activity. Involved in protein destabilization. Acts upstream of or within several processes, including mucociliary clearance; negative regulation of microtubule depolymerization; and respiratory basal cell differentiation. Is active in apical junction complex. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and long bone. Human ortholog(s) of this gene implicated in hydrocephalus and spinocerebellar ataxia type 40. Orthologous to human CCDC88C (coiled-coil domain containing 88C). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in spleen adult (RPKM 12.7), thymus adult (RPKM 12.6) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 E; 12 51.11 cM

Exon count:: 35

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (100877778..100995610, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (100911519..101029351, complement)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Daple deficiency causes hearing loss in adult mice by inducing defects in cochlear stereocilia and apical microtubules.
Title: Daple deficiency causes hearing loss in adult mice by inducing defects in cochlear stereocilia and apical microtubules.
Planar cell polarity induces local microtubule bundling for coordinated ciliary beating.
Title: Planar cell polarity induces local microtubule bundling for coordinated ciliary beating.
Wnts regulate planar cell polarity via heterotrimeric G protein and PI3K signaling.
Title: Wnts regulate planar cell polarity via heterotrimeric G protein and PI3K signaling.
results suggest that the primary cilium or an associated structure influences the domain of cell-intrinsic signals that shape the hair bundle. Daple is therefore essential to orient and pattern sensory hair bundles.
Title: Daple coordinates organ-wide and cell-intrinsic polarity to pattern inner-ear hair bundles.
Findings indicate that Daple interacts with Dishevelled to direct the Dishevelled/protein kinase lambda protein complex to activate Rac, which in turn mediates the non-canonical Wnt signalling pathway required for cell migration.
Title: The Dishevelled-associating protein Daple controls the non-canonical Wnt/Rac pathway and cell motility.
Identification of Daple, a Dvl-binding protein, that suppresses Wnt signalling pathway.
Title: Identification and characterization of a novel Dvl-binding protein that suppresses Wnt signalling pathway.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:236924

AW324073 (e-PCR)
- UniSTS:180448

AV000935 (e-PCR)
- UniSTS:180450

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables G-protein alpha-subunit binding	ISO Inferred from Sequence Orthology more info
enables G-protein alpha-subunit binding	ISS Inferred from Sequence or Structural Similarity more info
enables PDZ domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables dynein light intermediate chain binding	IBA Inferred from Biological aspect of Ancestor more info
enables frizzled binding	ISO Inferred from Sequence Orthology more info
enables frizzled binding	ISS Inferred from Sequence or Structural Similarity more info
enables guanyl-nucleotide exchange factor activity	ISO Inferred from Sequence Orthology more info
enables guanyl-nucleotide exchange factor activity	ISS Inferred from Sequence or Structural Similarity more info
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within Wnt signaling pathway, planar cell polarity pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in apical constriction	ISO Inferred from Sequence Orthology more info
involved_in apical constriction	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within cilium movement	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cilium organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cytoplasmic microtubule organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in cytoskeleton-dependent intracellular transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in cytoskeleton-dependent intracellular transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within microtubule bundle formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mucociliary clearance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of canonical Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of canonical Wnt signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within negative regulation of microtubule depolymerization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in non-canonical Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in non-canonical Wnt signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within_positive_effect positive regulation of JNK cascade	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within_positive_effect positive regulation of JNK cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein destabilization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within respiratory basal cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in small GTPase-mediated signal transduction	ISO Inferred from Sequence Orthology more info
involved_in small GTPase-mediated signal transduction	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in apical junction complex	IDA Inferred from Direct Assay more info	PubMed
located_in cell junction	ISO Inferred from Sequence Orthology more info
located_in cell junction	ISS Inferred from Sequence or Structural Similarity more info
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein Daple

Names: DVL-binding protein DAPLE; coiled-coil domain-containing protein 88C; dvl-associating protein with a high frequency of leucine residues

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001362342.1 → NP_001349271.1 protein Daple isoform 2

Status: VALIDATED

Source sequence(s)

AK002458, BC027658, BC063255

Consensus CDS

CCDS88390.1

UniProtKB/TrEMBL

Q9DCU8

Related

ENSMUSP00000152163.2, ENSMUST00000223097.2

Conserved Domains (1) summary

cl25732
Location:17 → 168

SMC_N; RecF/RecN/SMC N terminal domain
NM_026681.5 → NP_080957.2 protein Daple isoform 1

See identical proteins and their annotated locations for NP_080957.2

Status: VALIDATED

Source sequence(s)

AC126262, AC131759

Consensus CDS

CCDS26110.1

UniProtKB/Swiss-Prot

Q3UVI2, Q6VGS5

Related

ENSMUSP00000068629.4, ENSMUST00000068411.5

Conserved Domains (4) summary

pfam05483
Location:507 → 1243

SCP-1; Synaptonemal complex protein 1 (SCP-1)

pfam05622
Location:17 → 562

HOOK; HOOK protein

pfam16034
Location:477 → 628

JAKMIP_CC3; JAKMIP CC3 domain

cl23720
Location:737 → 841

RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000078.7 Reference GRCm39 C57BL/6J

Range

100877778..100995610 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006516188.3 → XP_006516251.1 protein Daple isoform X3

Conserved Domains (3) summary

PHA03307
Location:1538 → 1914

PHA03307; transcriptional regulator ICP4; Provisional

TIGR02168
Location:402 → 1220

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam05622
Location:2 → 475

HOOK; HOOK protein
XM_006516187.5 → XP_006516250.1 protein Daple isoform X1

Conserved Domains (3) summary

PHA03307
Location:1552 → 1928

PHA03307; transcriptional regulator ICP4; Provisional

TIGR02168
Location:416 → 1234

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam05622
Location:17 → 489

HOOK; HOOK protein
XM_011244166.4 → XP_011242468.1 protein Daple isoform X2

Conserved Domains (3) summary

PHA03307
Location:1546 → 1922

PHA03307; transcriptional regulator ICP4; Provisional

TIGR02168
Location:410 → 1228

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam05622
Location:40 → 483

HOOK; HOOK protein
XM_036157599.1 → XP_036013492.1 protein Daple isoform X4

UniProtKB/TrEMBL

Q80XQ1

Conserved Domains (3) summary

TIGR02168
Location:494 → 1307

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam05622
Location:263 → 549

HOOK; HOOK protein

cl41774
Location:12 → 164

HkD_SF; Hook domain-containing proteins superfamily