Protein detail

CCBE1

Collagen and calcium-binding EGF domain-containing protein 1 (Full of fluid protein homolog)

Entry name
CCBE1
UniProt ID
EVMP score
0.38
Frequency
2
Transmembrane count
Protein classification
Disease related genesHuman disease related genesPlasma proteinsPredicted secreted proteins
EVMP score: annotation confidence score.
Extremely high >= 0.85High >= 0.70Medium >= 0.55Low >= 0.40
Basic Information
Protein Names
Collagen and calcium-binding EGF domain-containing protein 1 (Full of fluid protein homolog)
Protein Class
Disease related genesHuman disease related genesPlasma proteinsPredicted secreted proteins
Protein Function
  • Disease related genes
  • Predicted secreted proteins
  • Human disease related genes:Congenital malformations:Other congenital malformations
Entrez Gene Symbol
Gene Synonym
FLJ30681KIAA1983
Gene Description
Collagen and calcium binding EGF domains 1
Chromosome
18
Position
59430939-59697662
Frequency
2
EVMP Score
0.38
Fluorescence & Localization
CCBE1 fluorescence
Tissue Specificstomach 1Cell SpecificEsophageal apical cells
Function & Pathway
Protein Function
  • Disease related genes
  • Predicted secreted proteins
  • Human disease related genes:Congenital malformations:Other congenital malformations
Mediation Categories
Metabolism mediationReceptor-signaling mediation
Relations & Evidence

Enzyme-Mediated Modification

0 records.

Ligand-Receptor Signaling

15 records.

CategoryParentDatabaseTransmitterReceiverSecretedPlasma Membrane (Transmembrane)Plasma Membrane (Peripheral)
secretedsecretedHPA_secretomeNoNoYesNoNo
secretedsecretedMatrisomeNoNoYesNoNo
secretedsecretedOmniPathNoNoYesNoNo
ligandligandMatrisomeYesNoYesNoNo
ligandligandOmniPathYesNoYesNoNo
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Regulatory Interaction Network

0 records.

Protein Complex Composition

0 records.

Isolation & Detection Technology

1 record.

EV Isolation MethodDetection MethodNumber of ReferencesReferences
Differential UltracentrifugationSize Exclusion ChromatographyMass spectrometry [LTQ-FT Ultra]Mass spectrometry127605433
Sequence, Structure & Domains

Sequences

Length
406
Mass
44,103
Sequence
MVPPPPSRGGAARGQLGRSLGPLLLLLALGHTWTYREEPEDGDREICSESKIATTKYPCLKSSGELTTCYRKKCCKGYKFVLGQCIPEDYDVCAEAPCEQQCTDNFGRVLCTCYPGYRYDRERHRKREKPYCLDIDECASSNGTLCAHICINTLGSYRCECREGYIREDDGKTCTRGDKYPNDTGHEKSENMVKAGTCCATCKEFYQMKQTVLQLKQKIALLPNNAADLGKYITGDKVLASNTYLPGPPGLPGGQGPPGSPGPKGSPGFPGMPGPPGQPGPRGSMGPMGPSPDLSHIKQGRRGPVGPPGAPGRDGSKGERGAPGPRGSPGPPGSFDFLLLMLADIRNDITELQEKVFGHRTHSSAEEFPLPQEFPSYPEAMDLGSGDDHPRRTETRDLRAPRDFYP
Alternative Products
Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q6UXH8-1; Sequence=Displayed; Name=2; IsoId=Q6UXH8-2; Sequence=VSP_023470, VSP_023471; Name=3; IsoId=Q6UXH8-3; Sequence=VSP_023469
Alternative Sequence
1..271; Missing (in isoform 2); 1..191; Missing (in isoform 3); 272..305; MPGPPGQPGPRGSMGPMGPSPDLSHIKQGRRGPV -> MQLTWASISLVTRCWPQTPTFQDLLACLGARALP (in isoform 2)

3D Structural Models

Domain & Motif Annotations

Compositional Bias
270..279; Pro residues; 281..292; Low complexity; 386..406; Basic and acidic residues
Domain (FT)
134..175; EGF-like; calcium-binding; 245..290; Collagen-like 1; 300..333; Collagen-like 2
Region
244..335; Disordered; 360..406; Disordered
Protein Families
CCBE1 family
Sequence Similarities
Belongs to the CCBE1 family.
Clinical Relevance
Disease Involvement
Disease variantIntellectual disability