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Protein

EF-hand domain-containing protein 1

Gene

EFHC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Microtubule-associated protein which regulates cell division and neuronal migration during cortical development. Necessary for mitotic spindle organization (PubMed:19734894, PubMed:28370826). Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration (PubMed:22926142). May enhance calcium influx through CACNA1E and stimulate programmed cell death (PubMed:15258581).4 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • alpha-tubulin binding Source: UniProtKB
  • calcium ion binding Source: InterPro
  • protein C-terminus binding Source: UniProtKB

GO - Biological processi

  • cerebral cortex cell migration Source: UniProtKB
  • mitotic cytokinesis Source: UniProtKB
  • mitotic spindle organization Source: UniProtKB
  • regulation of cell division Source: UniProtKB

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
EF-hand domain-containing protein 1
Alternative name(s):
Myoclonin-1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:EFHC1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000096093.14

Human Gene Nomenclature Database

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HGNCi
HGNC:16406 EFHC1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
608815 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q5JVL4

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Juvenile myoclonic epilepsy 1 (EJM1)6 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue.
See also OMIM:254770
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_02361977P → T in EJM1; associated with H-221; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E. 1 PublicationCorresponds to variant dbSNP:rs149055334EnsemblClinVar.1
Natural variantiVAR_07977289H → R in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs543160745EnsemblClinVar.1
Natural variantiVAR_072108118R → C in EJM1. 1 PublicationCorresponds to variant dbSNP:rs764096785Ensembl.1
Natural variantiVAR_072109153R → Q in EJM1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs745600475Ensembl.1
Natural variantiVAR_072110182R → C in EJM1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200191497EnsemblClinVar.1
Natural variantiVAR_023622210D → N in EJM1; reduces substantially the cell death effect; reduces partly the calcium influx; normally binds to CACNA1E; does not affect subcellular location; results in impaired cell migration. 2 PublicationsCorresponds to variant dbSNP:rs137852777EnsemblClinVar.1
Natural variantiVAR_023623221R → H in EJM1; associated with T-77; reduces substantially the cell death effect; reduces partly the calcium influx; normally binds to CACNA1E; does not affect subcellular location; results in impaired cell migration. 2 PublicationsCorresponds to variant dbSNP:rs79761183EnsemblClinVar.1
Natural variantiVAR_023624229F → L in EJM1; uncertain pathological significance; also found at homozygosity in neonatal intractable epilepsy; reduces substantially the cell death effect; reduces significantly the calcium influx; normally binds to CACNA1E; does not affect subcellular location; results in impaired cell migration. 6 PublicationsCorresponds to variant dbSNP:rs137852776EnsemblClinVar.1
Natural variantiVAR_023625253D → Y in EJM1; reduces substantially the cell death effect; reduces partly the calcium influx; normally binds to CACNA1E; does not affect subcellular location; results in impaired cell migration. 2 PublicationsCorresponds to variant dbSNP:rs137852778EnsemblClinVar.1
Natural variantiVAR_079774322E → K in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 Publication1
Natural variantiVAR_043157353R → W in EJM1; no effect on protein expression; no effect on the spindle pole localization; defective mitotic spindle organization; defective cytokinesis. 2 PublicationsCorresponds to variant dbSNP:rs527295360EnsemblClinVar.1
Natural variantiVAR_079775355Y → C in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs767833659Ensembl.1
Natural variantiVAR_079776372R → W in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs371151471EnsemblClinVar.1
Natural variantiVAR_079777378K → E in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 Publication1
Natural variantiVAR_079778436R → C in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs377286138EnsemblClinVar.1
Natural variantiVAR_079779485Y → H in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs779322943Ensembl.1
Natural variantiVAR_079780519N → S in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs527539103Ensembl.1
Natural variantiVAR_079781556V → L in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs772265107Ensembl.1
Natural variantiVAR_079782619I → S in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs142458862EnsemblClinVar.1
Natural variantiVAR_079783631Y → C in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs574948354EnsemblClinVar.1
Juvenile absence epilepsy 1 (JAE1)1 Publication1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA subtype of idiopathic generalized epilepsy characterized by onset occurring around puberty, absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures.
See also OMIM:607631
Mutation Leu-229 may be a cause of intractable epilepsy of infancy. Affected individuals have seizures of multiple type, manifested as tonic, clonic, and myoclonic seizures in the neonatal period, and as tonic seizures activated frequently by sleep, and repeated frequent myoclonic seizures in later infancy. The seizures are unresponsive to numerous antiepileptic drugs, and infants die in the first years of life. Although heterozygosity for Leu-229 has been associated with relatively benign forms of epilepsy in adolescence, homozygosity for the same mutation has much more severe consequences.1 Publication

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

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DisGeNETi
114327

MalaCards human disease database

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MalaCardsi
EFHC1
MIMi254770 phenotype
607631 phenotype

Open Targets

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OpenTargetsi
ENSG00000096093

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
1941 Juvenile absence epilepsy
307 Juvenile myoclonic epilepsy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA27654

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
EFHC1

Domain mapping of disease mutations (DMDM)

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DMDMi
74762202

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000738771 – 640EF-hand domain-containing protein 1Add BLAST640

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q5JVL4

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q5JVL4

MaxQB - The MaxQuant DataBase

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MaxQBi
Q5JVL4

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q5JVL4

PeptideAtlas

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PeptideAtlasi
Q5JVL4

PRoteomics IDEntifications database

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PRIDEi
Q5JVL4

ProteomicsDB human proteome resource

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ProteomicsDBi
63338
63339 [Q5JVL4-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q5JVL4

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q5JVL4

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed. Not detected in lymphocytes.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000096093 Expressed in 208 organ(s), highest expression level in bronchial epithelial cell

CleanEx database of gene expression profiles

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CleanExi
HS_EFHC1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q5JVL4 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q5JVL4 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA035307

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with the C-terminus of CACNA1E (PubMed:15258581). Interacts with alpha-tubulin (PubMed:19734894).2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
125313, 15 interactors

Protein interaction database and analysis system

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IntActi
Q5JVL4, 67 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000360107

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q5JVL4

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q5JVL4

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini93 – 198DM10 1PROSITE-ProRule annotationAdd BLAST106
Domaini239 – 359DM10 2PROSITE-ProRule annotationAdd BLAST121
Domaini416 – 520DM10 3PROSITE-ProRule annotationAdd BLAST105
Domaini574 – 609EF-handPROSITE-ProRule annotationAdd BLAST36

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 45Required for its localization in the mitotic spindle and interaction with alpha-tubulin1 PublicationAdd BLAST45

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0043 Eukaryota
ENOG410XQCQ LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00530000063528

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000265451

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG059646

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q5JVL4

Database of Orthologous Groups

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OrthoDBi
856254at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q5JVL4

TreeFam database of animal gene trees

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TreeFami
TF314504

Family and domain databases

Conserved Domains Database

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CDDi
cd00051 EFh, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR010554 DUF1126
IPR011992 EF-hand-dom_pair
IPR002048 EF_hand_dom
IPR040193 EFHC1/EFHC2/EFHB
IPR006602 Uncharacterised_DM10

The PANTHER Classification System

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PANTHERi
PTHR12086 PTHR12086, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF06565 DUF1126, 3 hits

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00676 DM10, 3 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47473 SSF47473, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS51336 DM10, 3 hits
PS50222 EF_HAND_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 20 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5JVL4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MVSNPVHGLP FLPGTSFKDS TKTAFHRSQT LSYRNGYAIV RRPTVGIGGD
60 70 80 90 100
RLQFNQLSQA ELDELASKAP VLTYGQPKQA PPADFIPAHV AFDKKVLKFD
110 120 130 140 150
AYFQEDVPMS TEEQYRIRQV NIYYYLEDDS MSVIEPVVEN SGILQGKLIK
160 170 180 190 200
RQRLAKNDRG DHYHWKDLNR GINITIYGKT FRVVDCDQFT QVFLESQGIE
210 220 230 240 250
LNPPEKMALD PYTELRKQPL RKYVTPSDFD QLKQFLTFDK QVLRFYAIWD
260 270 280 290 300
DTDSMYGECR TYIIHYYLMD DTVEIREVHE RNDGRDPFPL LMNRQRVPKV
310 320 330 340 350
LVENAKNFPQ CVLEISDQEV LEWYTAKDFI VGKSLTILGR TFFIYDCDPF
360 370 380 390 400
TRRYYKEKFG ITDLPRIDVS KREPPPVKQE LPPYNGFGLV EDSAQNCFAL
410 420 430 440 450
IPKAPKKDVI KMLVNDNKVL RYLAVLESPI PEDKDRRFVF SYFLATDMIS
460 470 480 490 500
IFEPPVRNSG IIGGKYLGRT KVVKPYSTVD NPVYYGPSDF FIGAVIEVFG
510 520 530 540 550
HRFIILDTDE YVLKYMESNA AQYSPEALAS IQNHVRKREA PAPEAESKQT
560 570 580 590 600
EKDPGVQELE ALIDTIQKQL KDHSCKDNIR EAFQIYDKEA SGYVDRDMFF
610 620 630 640
KICESLNVPV DDSLVKELIR MCSHGEGKIN YYNFVRAFSN
Length:640
Mass (Da):73,990
Last modified:February 15, 2005 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i08F9E8BFEC42FCF3
GO
Isoform 2 (identifier: Q5JVL4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     243-278: LRFYAIWDDTDSMYGECRTYIIHYYLMDDTVEIREV → SDIGTTIGLLISKCDLHLLAKGLGSCIGNYFETLQL
     279-640: Missing.

Note: May be due to intron retention.
Show »
Length:278
Mass (Da):31,661
Checksum:i806C5C56F5E294F9
GO
Isoform 3 (identifier: Q5JVL4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-21: MVSNPVHGLPFLPGTSFKDST → ML

Note: No experimental confirmation available.
Show »
Length:621
Mass (Da):72,021
Checksum:iC289DD7386FF510B
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 20 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GVB0A0A1B0GVB0_HUMAN
EF-hand domain-containing protein 1
EFHC1
641Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GTM7A0A1B0GTM7_HUMAN
EF-hand domain-containing protein 1
EFHC1
532Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GVR3A0A1B0GVR3_HUMAN
EF-hand domain-containing protein 1
EFHC1
544Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GTV6A0A1B0GTV6_HUMAN
EF-hand domain-containing protein 1
EFHC1
631Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GTB1A0A1B0GTB1_HUMAN
EF-hand domain-containing protein 1
EFHC1
630Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GUP6A0A1B0GUP6_HUMAN
EF-hand domain-containing protein 1
EFHC1
518Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GUV2A0A1B0GUV2_HUMAN
EF-hand domain-containing protein 1
EFHC1
632Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GTF7A0A1B0GTF7_HUMAN
EF-hand domain-containing protein 1
EFHC1
582Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GTH2A0A1B0GTH2_HUMAN
EF-hand domain-containing protein 1
EFHC1
552Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1C7CYY1A0A1C7CYY1_HUMAN
EF-hand domain-containing protein 1
EFHC1
559Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti140N → D in BAG60005 (PubMed:14702039).Curated1
Sequence conflicti399A → T in BAA91628 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02361977P → T in EJM1; associated with H-221; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E. 1 PublicationCorresponds to variant dbSNP:rs149055334EnsemblClinVar.1
Natural variantiVAR_07977289H → R in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs543160745EnsemblClinVar.1
Natural variantiVAR_072108118R → C in EJM1. 1 PublicationCorresponds to variant dbSNP:rs764096785Ensembl.1
Natural variantiVAR_072109153R → Q in EJM1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs745600475Ensembl.1
Natural variantiVAR_023620159R → W Polymorphism; no effect on cell death; binds to CACNA1E as the wild type protein; does not affect subcellular location. 4 PublicationsCorresponds to variant dbSNP:rs3804506EnsemblClinVar.1
Natural variantiVAR_043154174I → V Associated with susceptibility to JAE1. 1 PublicationCorresponds to variant dbSNP:rs137852779EnsemblClinVar.1
Natural variantiVAR_072110182R → C in EJM1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200191497EnsemblClinVar.1
Natural variantiVAR_023621182R → H Likely benign polymorphism; no effect on cell death; binds to CACNA1E. 4 PublicationsCorresponds to variant dbSNP:rs3804505EnsemblClinVar.1
Natural variantiVAR_023622210D → N in EJM1; reduces substantially the cell death effect; reduces partly the calcium influx; normally binds to CACNA1E; does not affect subcellular location; results in impaired cell migration. 2 PublicationsCorresponds to variant dbSNP:rs137852777EnsemblClinVar.1
Natural variantiVAR_079773221R → C Polymorphism. 1 PublicationCorresponds to variant dbSNP:rs139197513EnsemblClinVar.1
Natural variantiVAR_023623221R → H in EJM1; associated with T-77; reduces substantially the cell death effect; reduces partly the calcium influx; normally binds to CACNA1E; does not affect subcellular location; results in impaired cell migration. 2 PublicationsCorresponds to variant dbSNP:rs79761183EnsemblClinVar.1
Natural variantiVAR_023624229F → L in EJM1; uncertain pathological significance; also found at homozygosity in neonatal intractable epilepsy; reduces substantially the cell death effect; reduces significantly the calcium influx; normally binds to CACNA1E; does not affect subcellular location; results in impaired cell migration. 6 PublicationsCorresponds to variant dbSNP:rs137852776EnsemblClinVar.1
Natural variantiVAR_023625253D → Y in EJM1; reduces substantially the cell death effect; reduces partly the calcium influx; normally binds to CACNA1E; does not affect subcellular location; results in impaired cell migration. 2 PublicationsCorresponds to variant dbSNP:rs137852778EnsemblClinVar.1
Natural variantiVAR_043155259C → Y Associated with susceptibility to JAE1. 1 PublicationCorresponds to variant dbSNP:rs137852780EnsemblClinVar.1
Natural variantiVAR_026531285R → I1 PublicationCorresponds to variant dbSNP:rs17851771Ensembl.1
Natural variantiVAR_043156294R → H2 PublicationsCorresponds to variant dbSNP:rs1570624EnsemblClinVar.1
Natural variantiVAR_079774322E → K in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 Publication1
Natural variantiVAR_043157353R → W in EJM1; no effect on protein expression; no effect on the spindle pole localization; defective mitotic spindle organization; defective cytokinesis. 2 PublicationsCorresponds to variant dbSNP:rs527295360EnsemblClinVar.1
Natural variantiVAR_079775355Y → C in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs767833659Ensembl.1
Natural variantiVAR_048666357E → K. Corresponds to variant dbSNP:rs505760EnsemblClinVar.1
Natural variantiVAR_079776372R → W in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs371151471EnsemblClinVar.1
Natural variantiVAR_079777378K → E in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 Publication1
Natural variantiVAR_043158394A → S in a sporadic case of unclassified epilepsy. 1 Publication1
Natural variantiVAR_079778436R → C in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs377286138EnsemblClinVar.1
Natural variantiVAR_043159448M → T2 PublicationsCorresponds to variant dbSNP:rs1266787EnsemblClinVar.1
Natural variantiVAR_079779485Y → H in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs779322943Ensembl.1
Natural variantiVAR_079780519N → S in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs527539103Ensembl.1
Natural variantiVAR_079781556V → L in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs772265107Ensembl.1
Natural variantiVAR_023626619I → L Polymorphism; no effect on cell death; normally binds to CACNA1E; does not affect subcellular location. 4 PublicationsCorresponds to variant dbSNP:rs17851770EnsemblClinVar.1
Natural variantiVAR_079782619I → S in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs142458862EnsemblClinVar.1
Natural variantiVAR_079783631Y → C in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs574948354EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0461071 – 21MVSNP…FKDST → ML in isoform 3. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_015894243 – 278LRFYA…EIREV → SDIGTTIGLLISKCDLHLLA KGLGSCIGNYFETLQL in isoform 2. 1 PublicationAdd BLAST36
Alternative sequenceiVSP_015895279 – 640Missing in isoform 2. 1 PublicationAdd BLAST362

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY608689 mRNA Translation: AAT67418.1
AY608690 mRNA Translation: AAT67419.1
AK001328 mRNA Translation: BAA91628.1
AK297632 mRNA Translation: BAG60005.1
AL049611 Genomic DNA No translation available.
AL136125 Genomic DNA No translation available.
BC020210 mRNA Translation: AAH20210.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS4942.1 [Q5JVL4-1]
CCDS55021.1 [Q5JVL4-3]

NCBI Reference Sequences

More...
RefSeqi
NP_001165891.1, NM_001172420.1 [Q5JVL4-3]
NP_060570.2, NM_018100.3 [Q5JVL4-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.403171

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000371068; ENSP00000360107; ENSG00000096093 [Q5JVL4-1]
ENST00000538167; ENSP00000444521; ENSG00000096093 [Q5JVL4-3]
ENST00000636489; ENSP00000489998; ENSG00000096093 [Q5JVL4-3]
ENST00000636954; ENSP00000489966; ENSG00000096093 [Q5JVL4-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
114327

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:114327

UCSC genome browser

More...
UCSCi
uc003pap.5 human [Q5JVL4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY608689 mRNA Translation: AAT67418.1
AY608690 mRNA Translation: AAT67419.1
AK001328 mRNA Translation: BAA91628.1
AK297632 mRNA Translation: BAG60005.1
AL049611 Genomic DNA No translation available.
AL136125 Genomic DNA No translation available.
BC020210 mRNA Translation: AAH20210.1
CCDSiCCDS4942.1 [Q5JVL4-1]
CCDS55021.1 [Q5JVL4-3]
RefSeqiNP_001165891.1, NM_001172420.1 [Q5JVL4-3]
NP_060570.2, NM_018100.3 [Q5JVL4-1]
UniGeneiHs.403171

3D structure databases

ProteinModelPortaliQ5JVL4
SMRiQ5JVL4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125313, 15 interactors
IntActiQ5JVL4, 67 interactors
STRINGi9606.ENSP00000360107

PTM databases

iPTMnetiQ5JVL4
PhosphoSitePlusiQ5JVL4

Polymorphism and mutation databases

BioMutaiEFHC1
DMDMi74762202

Proteomic databases

EPDiQ5JVL4
jPOSTiQ5JVL4
MaxQBiQ5JVL4
PaxDbiQ5JVL4
PeptideAtlasiQ5JVL4
PRIDEiQ5JVL4
ProteomicsDBi63338
63339 [Q5JVL4-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
114327
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371068; ENSP00000360107; ENSG00000096093 [Q5JVL4-1]
ENST00000538167; ENSP00000444521; ENSG00000096093 [Q5JVL4-3]
ENST00000636489; ENSP00000489998; ENSG00000096093 [Q5JVL4-3]
ENST00000636954; ENSP00000489966; ENSG00000096093 [Q5JVL4-3]
GeneIDi114327
KEGGihsa:114327
UCSCiuc003pap.5 human [Q5JVL4-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
114327
DisGeNETi114327
EuPathDBiHostDB:ENSG00000096093.14

GeneCards: human genes, protein and diseases

More...
GeneCardsi
EFHC1
HGNCiHGNC:16406 EFHC1
HPAiHPA035307
MalaCardsiEFHC1
MIMi254770 phenotype
607631 phenotype
608815 gene
neXtProtiNX_Q5JVL4
OpenTargetsiENSG00000096093
Orphaneti1941 Juvenile absence epilepsy
307 Juvenile myoclonic epilepsy
PharmGKBiPA27654

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0043 Eukaryota
ENOG410XQCQ LUCA
GeneTreeiENSGT00530000063528
HOGENOMiHOG000265451
HOVERGENiHBG059646
InParanoidiQ5JVL4
OrthoDBi856254at2759
PhylomeDBiQ5JVL4
TreeFamiTF314504

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
EFHC1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
EFHC1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
114327

Protein Ontology

More...
PROi
PR:Q5JVL4

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000096093 Expressed in 208 organ(s), highest expression level in bronchial epithelial cell
CleanExiHS_EFHC1
ExpressionAtlasiQ5JVL4 baseline and differential
GenevisibleiQ5JVL4 HS

Family and domain databases

CDDicd00051 EFh, 1 hit
InterProiView protein in InterPro
IPR010554 DUF1126
IPR011992 EF-hand-dom_pair
IPR002048 EF_hand_dom
IPR040193 EFHC1/EFHC2/EFHB
IPR006602 Uncharacterised_DM10
PANTHERiPTHR12086 PTHR12086, 1 hit
PfamiView protein in Pfam
PF06565 DUF1126, 3 hits
SMARTiView protein in SMART
SM00676 DM10, 3 hits
SUPFAMiSSF47473 SSF47473, 1 hit
PROSITEiView protein in PROSITE
PS51336 DM10, 3 hits
PS50222 EF_HAND_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiEFHC1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q5JVL4
Secondary accession number(s): B4DMU3
, F5GZD8, Q5XKM4, Q6E1U7, Q6E1U8, Q8WUL2, Q9NVW6
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 25, 2005
Last sequence update: February 15, 2005
Last modified: January 16, 2019
This is version 140 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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