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Entry version 152 (02 Jun 2021)
Sequence version 1 (01 Dec 2000)
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Protein

Ellis-van Creveld syndrome protein

Gene

EVC

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 transcript 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

Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Involved in endochondral growth and skeletal development.

By similarity

<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 - Biological processi

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
P57679

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5632684, Hedgehog 'on' state
R-HSA-5635838, Activation of SMO

<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%5Fand%5Ftaxonomy%5Fsection">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:
Ellis-van Creveld syndrome protein
Alternative name(s):
DWF-1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:EVC
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 4

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:3497, EVC

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
604831, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P57679

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000072840.12

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 25ExtracellularSequence analysisAdd BLAST25
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei26 – 48HelicalSequence analysisAdd BLAST23
Topological domaini49 – 992CytoplasmicSequence analysisAdd BLAST944

<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

Cell membrane, Cell projection, Cilium, Cytoplasm, Cytoskeleton, Membrane

<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

Ellis-van Creveld syndrome (EVC)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive condition characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. Patients manifest short-limb dwarfism, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital heart defects, most commonly an atrioventricular septal defect, are observed in 60% of affected individuals.
Related information in OMIM
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_066447206S → N in EVC. 1 PublicationCorresponds to variant dbSNP:rs1017946059EnsemblClinVar.1
Natural variantiVAR_009946443R → Q in EVC. 1 PublicationCorresponds to variant dbSNP:rs35953626EnsemblClinVar.1
Natural variantiVAR_066448623L → P in EVC; atypical phenotype with septal cardiac defects, rhizomelic limb shortening and polydactyly without the typical lip, dental and nail abnormalities of EVC. 1 PublicationCorresponds to variant dbSNP:rs1373632260EnsemblClinVar.1
Acrofacial dysostosis, Weyers type (WAD)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant condition characterized by dysplastic nails, postaxial polydactyly, dental anomalies, short limbs, short stature and normal intelligence. The phenotype is milder than Ellis-van Creveld syndrome.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_009944307S → P in WAD. 1 PublicationCorresponds to variant dbSNP:rs121908426EnsemblClinVar.1

Keywords - Diseasei

Ciliopathy, Disease variant, Dwarfism, Ectodermal dysplasia

Organism-specific databases

DisGeNET

More...
DisGeNETi
2121

MalaCards human disease database

More...
MalaCardsi
EVC
MIMi193530, phenotype
225500, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000072840

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

More...
Orphaneti
952, Acrofacial dysostosis, Weyers type
289, Ellis Van Creveld syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27911

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P57679, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
EVC

Domain mapping of disease mutations (DMDM)

More...
DMDMi
12229783

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000871021 – 992Ellis-van Creveld syndrome proteinAdd BLAST992

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P57679

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
P57679

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
P57679

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

More...
PaxDbi
P57679

PeptideAtlas

More...
PeptideAtlasi
P57679

PRoteomics IDEntifications database

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PRIDEi
P57679

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
57006

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P57679

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

More...
PhosphoSitePlusi
P57679

<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

Found in the developing vertebral bodies, ribs, upper and lower limbs, heart, kidney, lung.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000072840, Expressed in sural nerve and 124 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P57679, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P57679, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000072840, Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the EvC complex composed of EFCAB7, IQCE, EVC2 and EVC; built from two subcomplexes, EVC2:EVC and EFCAB7:IQCE.

Interacts with EVC2.

Interacts with EFCAB7.

Interacts with IQCE.

By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
108422, 5 interactors

Protein interaction database and analysis system

More...
IntActi
P57679, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000264956

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
P57679, protein

<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

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

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SMRi
P57679

Database of comparative protein structure models

More...
ModBasei
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

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>Regioni66 – 105DisorderedSequence analysisAdd BLAST40
Regioni151 – 181DisorderedSequence analysisAdd BLAST31
Regioni825 – 854DisorderedSequence analysisAdd BLAST30
Regioni930 – 992DisorderedSequence analysisAdd BLAST63

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi66 – 80Polar residuesSequence analysisAdd BLAST15
Compositional biasi81 – 102Basic and acidic residuesSequence analysisAdd BLAST22
Compositional biasi152 – 181Polar residuesSequence analysisAdd BLAST30
Compositional biasi829 – 854Polar residuesSequence analysisAdd BLAST26
Compositional biasi953 – 979Polar residuesSequence analysisAdd BLAST27

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502QUDD, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000154127

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_014037_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P57679

Identification of Orthologs from Complete Genome Data

More...
OMAi
CSSAKAT

Database of Orthologous Groups

More...
OrthoDBi
133009at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P57679

TreeFam database of animal gene trees

More...
TreeFami
TF335835

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR026582, Evc
IPR026501, Limbin/Ellis-van_Creveld

The PANTHER Classification System

More...
PANTHERi
PTHR16795, PTHR16795, 1 hit
PTHR16795:SF13, PTHR16795:SF13, 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

P57679-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MARGGAACKS DARLLLGRDA LRPAPALLAP AVLLGAALGL GLGLWLGCRA
60 70 80 90 100
GRQRTRHQKD DTQNLLKNLE SNAQTPSETG SPSRRRKREV QMSKDKEAVD
110 120 130 140 150
ECEPPSNSNI TAFALKAKVI YPINQKFRPL ADGSSNPSLH ENLKQAVLPH
160 170 180 190 200
QPVEASPSSS LGSLSQGEKD DCSSSSSVHS ATSDDRFLSR TFLRVNAFPE
210 220 230 240 250
VLACESVDVD LCIYSLHLKD LLHLDTALRQ EKHMMFIQIF KMCLLDLLPK
260 270 280 290 300
KKSDDELYQK ILSKQEKDLE ELEKGLQVKL SNTEMSGAGD SEYITLADVE
310 320 330 340 350
KKEREYSEQL IDNMEAFWKQ MANIQHFLVD QFKCSSSKAR QLMMTLTERM
360 370 380 390 400
IAAEGLLCDS QELQALDALE RTMGRAHMAK VIEFLKLQVQ EETRCRLAAI
410 420 430 440 450
SHGLELLAGE GKLSGRQKEE LLTQQHKAFW QEAERFSREF VQRGKDLVTA
460 470 480 490 500
SLAHQVEGTA KLTLAQEEEQ RSFLAEAQPT ADPEKFLEAF HEVLERQRLM
510 520 530 540 550
QCDLEEEENV RATEAVVALC QELYFSTVDT FQKFVDALFL QTLPGMTGLP
560 570 580 590 600
PEECDYLRQE VQENAAWQLG KSNRFRRQQW KLFQELLEQD QQVWMEECAL
610 620 630 640 650
SSVLQTHLRE DHEGTIRGVL GRLGGLTEES TRCVLQGHDL LLRSALRRLA
660 670 680 690 700
LRGNALATLT QMRLSGKKHL LQELREQRAL EQGSSQCLDE HQWQLLRALE
710 720 730 740 750
ARVLEEASRL EEEAQQTRLQ LQQRLLAEAQ EVGQLLQQHM ECAIGQALLV
760 770 780 790 800
HARNAATKSR AKDRDDFKRT LMEAAVESVY VTSAGVSRLV QAYYQQIGRI
810 820 830 840 850
MEDHEERKLQ HLKTLQGERM ENYKLRKKQE LSNPSSGSRT AGGAHETSQA
860 870 880 890 900
VHQRMLSQQK RFLAQFPVHQ QMRLHAQQQQ AGVMDLLEAQ LETQLQEAEQ
910 920 930 940 950
NFISELAALA RVPLAESKLL PAKRGLLEKP LRTKRKKPLP QERGDLGVPN
960 970 980 990
NEDLASGDQT SGSLSSKRLS QQESEAGDSG NSKKMLKRRS NL
Length:992
Mass (Da):111,990
Last modified:December 1, 2000 - 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:iE3ED42401138B5D4
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PCN4E9PCN4_HUMAN
Ellis-van Creveld syndrome protein
EVC
535Annotation score:

Annotation score:2 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 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 conflicti966Missing in AAF44682 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00994274Q → P1 PublicationCorresponds to variant dbSNP:rs2291157EnsemblClinVar.1
Natural variantiVAR_033852114A → V. Corresponds to variant dbSNP:rs16837598EnsemblClinVar.1
Natural variantiVAR_066447206S → N in EVC. 1 PublicationCorresponds to variant dbSNP:rs1017946059EnsemblClinVar.1
Natural variantiVAR_009943258Y → H1 PublicationCorresponds to variant dbSNP:rs6414624EnsemblClinVar.1
Natural variantiVAR_009944307S → P in WAD. 1 PublicationCorresponds to variant dbSNP:rs121908426EnsemblClinVar.1
Natural variantiVAR_033853372T → M. Corresponds to variant dbSNP:rs28483498EnsemblClinVar.1
Natural variantiVAR_009945403G → S1 PublicationCorresponds to variant dbSNP:rs183114391Ensembl.1
Natural variantiVAR_009946443R → Q in EVC. 1 PublicationCorresponds to variant dbSNP:rs35953626EnsemblClinVar.1
Natural variantiVAR_009947449T → K1 PublicationCorresponds to variant dbSNP:rs2302075EnsemblClinVar.1
Natural variantiVAR_009948576R → Q1 PublicationCorresponds to variant dbSNP:rs1383180EnsemblClinVar.1
Natural variantiVAR_066448623L → P in EVC; atypical phenotype with septal cardiac defects, rhizomelic limb shortening and polydactyly without the typical lip, dental and nail abnormalities of EVC. 1 PublicationCorresponds to variant dbSNP:rs1373632260EnsemblClinVar.1
Natural variantiVAR_009949760R → Q1 PublicationCorresponds to variant dbSNP:rs2279252EnsemblClinVar.1
Natural variantiVAR_009950953D → G1 Publication1
Natural variantiVAR_009951965Missing . 1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF216184 mRNA Translation: AAF37216.1
AF216185 mRNA Translation: AAF37217.1
AF239742 mRNA Translation: AAF44682.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3383.1

NCBI Reference Sequences

More...
RefSeqi
NP_001293019.1, NM_001306090.1
NP_001293021.1, NM_001306092.1
NP_714928.1, NM_153717.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000264956; ENSP00000264956; ENSG00000072840

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2121

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2121

UCSC genome browser

More...
UCSCi
uc003gil.2, human

<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
AF216184 mRNA Translation: AAF37216.1
AF216185 mRNA Translation: AAF37217.1
AF239742 mRNA Translation: AAF44682.1
CCDSiCCDS3383.1
RefSeqiNP_001293019.1, NM_001306090.1
NP_001293021.1, NM_001306092.1
NP_714928.1, NM_153717.2

3D structure databases

SMRiP57679
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi108422, 5 interactors
IntActiP57679, 1 interactor
STRINGi9606.ENSP00000264956

PTM databases

iPTMnetiP57679
PhosphoSitePlusiP57679

Genetic variation databases

BioMutaiEVC
DMDMi12229783

Proteomic databases

EPDiP57679
jPOSTiP57679
MassIVEiP57679
PaxDbiP57679
PeptideAtlasiP57679
PRIDEiP57679
ProteomicsDBi57006

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
2233, 89 antibodies

The DNASU plasmid repository

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DNASUi
2121

Genome annotation databases

EnsembliENST00000264956; ENSP00000264956; ENSG00000072840
GeneIDi2121
KEGGihsa:2121
UCSCiuc003gil.2, human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
2121
DisGeNETi2121

GeneCards: human genes, protein and diseases

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GeneCardsi
EVC
HGNCiHGNC:3497, EVC
HPAiENSG00000072840, Low tissue specificity
MalaCardsiEVC
MIMi193530, phenotype
225500, phenotype
604831, gene
neXtProtiNX_P57679
OpenTargetsiENSG00000072840
Orphaneti952, Acrofacial dysostosis, Weyers type
289, Ellis Van Creveld syndrome
PharmGKBiPA27911
VEuPathDBiHostDB:ENSG00000072840.12

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG502QUDD, Eukaryota
GeneTreeiENSGT00940000154127
HOGENOMiCLU_014037_0_0_1
InParanoidiP57679
OMAiCSSAKAT
OrthoDBi133009at2759
PhylomeDBiP57679
TreeFamiTF335835

Enzyme and pathway databases

PathwayCommonsiP57679
ReactomeiR-HSA-5632684, Hedgehog 'on' state
R-HSA-5635838, Activation of SMO

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
2121, 8 hits in 983 CRISPR screens

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

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ChiTaRSi
EVC, human

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

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GenomeRNAii
2121
PharosiP57679, Tbio

Protein Ontology

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PROi
PR:P57679
RNActiP57679, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000072840, Expressed in sural nerve and 124 other tissues
ExpressionAtlasiP57679, baseline and differential
GenevisibleiP57679, HS

Family and domain databases

InterProiView protein in InterPro
IPR026582, Evc
IPR026501, Limbin/Ellis-van_Creveld
PANTHERiPTHR16795, PTHR16795, 1 hit
PTHR16795:SF13, PTHR16795:SF13, 1 hit

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiEVC_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: P57679
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: December 1, 2000
Last modified: June 2, 2021
This is version 152 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

Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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