ccdc88c coiled-coil domain containing 88C [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: ccdc88cprovided by ZNC
Official Full Name: coiled-coil domain containing 88Cprovided by ZNC
Primary source: ZFIN:ZDB-GENE-100419-3
See related: Ensembl:ENSDARG00000053713 AllianceGenome:ZFIN:ZDB-GENE-100419-3
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: zDAPLE
Summary: Enables guanyl-nucleotide exchange factor activity. Involved in neural tube formation and small GTPase mediated signal transduction. Predicted to be located in cell junction. Predicted to be active in centrosome and cytoplasm. Is expressed in anterior neural tube; neural rod; and neural tube. 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, Apr 2022]
Orthologs: human mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: chromosome: 17

Exon count:: 32

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	17	NC_007128.7 (38602881..38714921)
105	previous assembly	GRCz10 (GCF_000002035.5)	17	NC_007128.6 (38655301..38767319)

Chromosome 17 - NC_007128.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

General gene information

Go to the top of the page Help

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables G-protein alpha-subunit binding	ISS Inferred from Sequence or Structural Similarity more info
enables dynein light intermediate chain binding	IBA Inferred from Biological aspect of Ancestor more info
enables guanyl-nucleotide exchange factor activity	IDA Inferred from Direct Assay more info	PubMed
enables guanyl-nucleotide exchange factor activity	IEA Inferred from Electronic Annotation more info
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in apical constriction	ISS Inferred from Sequence or Structural Similarity more info
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
acts_upstream_of_or_within cytoskeleton-dependent intracellular transport	IEA Inferred from Electronic Annotation more info
involved_in neural tube formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in small GTPase-mediated signal transduction	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info

General protein information

Go to the top of the page Help

Preferred Names: protein Daple

Names: DVL-binding protein DAPLE; coiled-coil domain-containing protein 88C

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001423870.1 → NP_001410799.1 protein Daple

Status: VALIDATED

Source sequence(s)

BX530029

RefSeqs of Annotated Genomes: Danio rerio Annotation Release 106 details...

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

Reference GRCz11 Primary Assembly

Genomic

NC_007128.7 Reference GRCz11 Primary Assembly

Range

38602881..38714921

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_009293223.3 → XP_009291498.1 protein Daple isoform X3

UniProtKB/TrEMBL

A0A8M3ARK5

Conserved Domains (3) summary

pfam05483
Location:615 → 1355

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

pfam05622
Location:40 → 667

HOOK; HOOK protein

cl23720
Location:532 → 626

RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
XM_009293222.3 → XP_009291497.1 protein Daple isoform X1

UniProtKB/Swiss-Prot

A0A2R8QCI3, F1QG38, Q6DG47

UniProtKB/TrEMBL

A0A8M3AUH6

Conserved Domains (5) summary

pfam05483
Location:317 → 1058

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

pfam14662
Location:1050 → 1233

KASH_CCD; Coiled-coil region of CCDC155 or KASH

cl02488
Location:473 → 687

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl21528
Location:908 → 1067

Lipocalin; Lipocalin / cytosolic fatty-acid binding protein family

cl23720
Location:527 → 626

RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
XM_001921892.6 → XP_001921927.1 protein Daple isoform X2

UniProtKB/TrEMBL

F1QG38

Related

ENSDARP00000062009.3, ENSDART00000062010.5

Conserved Domains (5) summary

pfam05483
Location:317 → 1055

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

pfam14662
Location:1047 → 1230

KASH_CCD; Coiled-coil region of CCDC155 or KASH

cl02488
Location:473 → 687

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl21528
Location:908 → 1064

Lipocalin; Lipocalin / cytosolic fatty-acid binding protein family

cl23720
Location:527 → 626

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