Protein detail
CCDC8
Coiled-coil domain-containing protein 8
Entry name CCDC8 | UniProt ID | EVMP confidence score 0.38 |
Supporting publications (n) 1 | Transmembrane count | Protein classification Disease related genesHuman disease related genesPredicted intracellular proteins |
EVMP confidence score
Annotation confidence score; open for threshold definitions.
Extremely high >= 0.85High >= 0.70Medium >= 0.55Low >= 0.40Basic Information11
Protein Names
Coiled-coil domain-containing protein 8
Protein Class (3)
Disease related genesHuman disease related genesPredicted intracellular proteins
Protein Function (3)
- Disease related genes
- Human disease related genes:Congenital malformations:Other congenital malformations
- Predicted intracellular proteins
Ensembl
Entrez Gene Symbol
Gene Synonym (3)
3M3DKFZp564K0322PPP1R20
Gene Description
Coiled-coil domain containing 8
Chromosome
19
Position
46410329-46413564
Supporting publications (n)
1
EVMP confidence score
0.38
Fluorescence & Localization1
Function & Pathway7
Protein Function (3)
- Disease related genes
- Human disease related genes:Congenital malformations:Other congenital malformations
- Predicted intracellular proteins
Cellular Component (6)
Molecular Function
Biological Process (3)
Canonical Pathways
M8 Pid endothelin pathway
Mediation Categories (2)
Clinical-translation mediationMetabolism mediation
Relations & Evidence38
Ligand-Receptor Signaling (5)
5 records.
| Category | Parent | Database | Transmitter | Receiver | Secreted | Plasma Membrane (Transmembrane) | Plasma Membrane (Peripheral) |
|---|---|---|---|---|---|---|---|
| intracellular | intracellular | LOCATE | No | No | No | No | No |
| intracellular | intracellular | ComPPI | No | No | No | No | No |
| intracellular | intracellular | GO_Intercell | No | No | No | No | No |
| intracellular | intracellular | UniProt_location | No | No | No | No | No |
| intracellular | intracellular | OmniPath | No | No | No | No | No |
Protein Complex Composition (32)
32 records.
Sequence, Structure & Domains9
Sequences
Length
538
Mass
59,374
Sequence
MLQIGEDVDYLLIPREVRLAGGVWRVISKPATKEAEFRERLTQFLEEEGRTLEDVARIMEKSTPHPPQPPKKPKEPRVRRRVQQMVTPPPRLVVGTYDSSNASDSEFSDFETSRDKSRQGPRRGKKVRKMPVSYLGSKFLGSDLESEDDEELVEAFLRRQEKQPSAPPARRRVNLPVPMFEDNLGPQLSKADRWREYVSQVSWGKLKRRVKGWAPRAGPGVGEARLASTAVESAGVSSAPEGTSPGDRLGNAGDVCVPQASPRRWRPKINWASFRRRRKEQTAPTGQGADIEADQGGEAADSQREEAIADQREGAAGNQRAGAPADQGAEAADNQREEAADNQRAGAPAEEGAEAADNQREEAADNQRAEAPADQRSQGTDNHREEAADNQRAEAPADQGSEVTDNQREEAVHDQRERAPAVQGADNQRAQARAGQRAEAAHNQRAGAPGIQEAEVSAAQGTTGTAPGARARKQVKTVRFQTPGRFSWFCKRRRAFWHTPRLPTLPKRVPRAGEARNLRVLRAEARAEAEQGEQEDQL
3D Structural Models
3D Structure
X-ray crystallography (1)
Domain & Motif Annotations
Compositional Bias
119..128; Basic residues; 301..313; Basic and acidic residues; 321..332; Low complexity; 357..373; Basic and acidic residues; 381..392; Basic and acidic residues; 405..419; Basic and acidic residues; 428..438; Low complexity; 458..469; Low complexity
Motif
500..506; PxLPxI/L motif; mediates interaction with ANKRA2
Coiled Coil
349..366; 514..535
Domain (CC)
The PxLPxI/L motif mediates interaction with ankyrin repeats of ANKRA2..
Region
58..128; Disordered; 213..473; Disordered
Clinical Relevance6
Disease Involvement
Dwarfism
Drug Targets
Literature-reported target
Antibody
Interaction Protein (3)
ENSG00000164331ENSG00000181163ENSG00000198668
Interaction Count
3
Interaction Dataset (2)
intact_biogridbiogrid_opencell
Supporting Publications1
| PMID | Title | Abstract |
|---|---|---|
| 33893753 | Label-free quantitative proteomic analysis of extracellular vesicles released from fibroblasts derived from patients with spinal muscular atrophy. | No abstract available |