Protein detail

EFHC1

EF-hand domain-containing protein 1 (Myoclonin-1)

Entry name EFHC1	UniProt ID Q5JVL4	EVMP confidence score 0.38
Supporting publications (n) 2	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 >= 0.40

Basic Information11

Protein Names

EF-hand domain-containing protein 1 (Myoclonin-1)

Protein Class (3)

Disease related genesHuman disease related genesPredicted intracellular proteins

Protein Function (3)

Human disease related genes:Nervous system diseases:Epilepsy
Disease related genes
Predicted intracellular proteins

Ensembl

ENSG00000096093

Entrez Gene Symbol

EFHC1

Gene Synonym (5)

EJMEJM1FLJ10466POC9RIB72

Gene Description

EF-hand domain containing 1

Chromosome

Position

52362123-52529886

Supporting publications (n)

EVMP confidence score

0.38

Fluorescence & Localization4

Brain Regional Specificchoroid plexusCell SpecificBreast lactating cellsSingle-Nuclei Brain Specificchoroid plexus epithelial cell

Function & Pathway5

Protein Function (3)

Human disease related genes:Nervous system diseases:Epilepsy
Disease related genes
Predicted intracellular proteins

Cellular Component (8)

Molecular Function (3)

Biological Process (3)

Mediation Categories

Other mediation

Relations & Evidence5

Ligand-Receptor Signaling (4)

4 records.

Category	Parent	Database	Transmitter	Receiver	Secreted	Plasma Membrane (Transmembrane)	Plasma Membrane (Peripheral)
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

Isolation & Detection Technology (1)

1 record.

EV Isolation Method	Detection Method	Number of References	References
Differential UltracentrifugationSize Exclusion Chromatography	Mass spectrometryR Sequencing	7	38207106 40985879 36064647 40465195 37322475 40840701 39207047

Sequence, Structure & Domains9

Sequences

Length

640

Mass

73,990

Sequence

MVSNPVHGLPFLPGTSFKDSTKTAFHRSQTLSYRNGYAIVRRPTVGIGGDRLQFNQLSQAELDELASKAPVLTYGQPKQAPPADFIPAHVAFDKKVLKFDAYFQEDVPMSTEEQYRIRQVNIYYYLEDDSMSVIEPVVENSGILQGKLIKRQRLAKNDRGDHYHWKDLNRGINITIYGKTFRVVDCDQFTQVFLESQGIELNPPEKMALDPYTELRKQPLRKYVTPSDFDQLKQFLTFDKQVLRFYAIWDDTDSMYGECRTYIIHYYLMDDTVEIREVHERNDGRDPFPLLMNRQRVPKVLVENAKNFPQCVLEISDQEVLEWYTAKDFIVGKSLTILGRTFFIYDCDPFTRRYYKEKFGITDLPRIDVSKREPPPVKQELPPYNGFGLVEDSAQNCFALIPKAPKKDVIKMLVNDNKVLRYLAVLESPIPEDKDRRFVFSYFLATDMISIFEPPVRNSGIIGGKYLGRTKVVKPYSTVDNPVYYGPSDFFIGAVIEVFGHRFIILDTDEYVLKYMESNAAQYSPEALASIQNHVRKREAPAPEAESKQTEKDPGVQELEALIDTIQKQLKDHSCKDNIREAFQIYDKEASGYVDRDMFFKICESLNVPVDDSLVKELIRMCSHGEGKINYYNFVRAFSN

Alternative Products

Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q5JVL4-1; Sequence=Displayed; Name=2; IsoId=Q5JVL4-2; Sequence=VSP_015894, VSP_015895; Name=3; IsoId=Q5JVL4-3; Sequence=VSP_046107

Alternative Sequence

1..21; MVSNPVHGLPFLPGTSFKDST -> ML (in isoform 3); 243..278; LRFYAIWDDTDSMYGECRTYIIHYYLMDDTVEIREV -> SDIGTTIGLLISKCDLHLLAKGLGSCIGNYFETLQL (in isoform 2); 279..640; Missing (in isoform 2)

3D Structural Models

3D Structure

Electron microscopy (2)

Domain & Motif Annotations

Compositional Bias

538..554; Basic and acidic residues

Domain (FT)

93..198; DM10 1; 239..359; DM10 2; 416..520; DM10 3; 574..609; EF-hand

Region

1..45; Required for its localization in the mitotic spindle and interaction with alpha-tubulin; 535..554; Disordered

Clinical Relevance5

Disease Involvement (2)

Disease variantEpilepsy

Antibody

HPA035307

Interaction Protein

ENSG00000089234

Interaction Count

Interaction Dataset

intact_biogrid

Supporting Publications2

PMID	Title	Abstract
37047601	Blood-Brain Barrier Biomarkers before and after Kidney Transplantation.	This study compares the levels of neuron specific enolase (NSE), brain-derived neurotrophic factor (BDNF), neurofilament light chain (NfL), and circulating plasma extracellular vesicles (EVs) in kidney-failure patients before KT and at a two-year follow up.
38555374	Cancer testis antigen MAGEA3 in serum and serum-derived exosomes serves as a promising biomarker in lung adenocarcinoma.	Clinically derived serum and serum exosome samples were used to assess the mRNA expression of MAGEA3 and MAGEA4 by qRT-PCR, and serum MAGEA3 and MAGEA4 protein expression were evaluated by ELISA in total 133 healthy volunteers' and 289 LUAD patients' serum samples.