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UniProtKB - O00192 (ARVC_HUMAN)

Entry version 179 (02 Dec 2020)
Sequence version 1 (01 Jul 1997)
Previous versions | rss
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Protein

Armadillo repeat protein deleted in velo-cardio-facial syndrome

Gene

ARVCF

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

Involved in protein-protein interactions at adherens junctions.

<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

  • cadherin binding Source: GO_Central
Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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>Keywordsi

Biological processCell adhesion

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O00192

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		O00192

SIGNOR Signaling Network Open Resource

More...SIGNORi		O00192

<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:
Armadillo repeat protein deleted in velo-cardio-facial syndrome
<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:ARVCF
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 22

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000099889.13

Human Gene Nomenclature Database

More...HGNCi		HGNC:728, ARVCF

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		602269, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O00192

<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 & Seán O’Donoghue; Source: COMPARTMENTS

<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

Organism-specific databases

DisGeNET

More...DisGeNETi		421

MalaCards human disease database

More...MalaCardsi		ARVCF

Open Targets

More...OpenTargetsi		ENSG00000099889

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

More...Orphaneti		567, 22q11.2 deletion syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA25018

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O00192, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ARVCF

<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_00000642941 – 962Armadillo repeat protein deleted in velo-cardio-facial syndromeAdd BLAST962

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei102PhosphothreonineCombined sources1
Modified residuei104PhosphothreonineCombined sources1
Modified residuei170Omega-N-methylarginineBy similarity1
Modified residuei267PhosphoserineCombined sources1
Modified residuei332PhosphoserineCombined sources1
Modified residuei335PhosphoserineCombined sources1
Modified residuei343PhosphoserineCombined sources1
Modified residuei345PhosphoserineCombined sources1
Modified residuei606PhosphoserineCombined sources1
Modified residuei642PhosphothreonineCombined sources1
Modified residuei864PhosphoserineCombined sources1
Modified residuei871PhosphoserineCombined sources1
Modified residuei872PhosphothreonineCombined sources1
Modified residuei915PhosphoserineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O00192

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O00192

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O00192

MaxQB - The MaxQuant DataBase

More...MaxQBi		O00192

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

More...PaxDbi		O00192

PeptideAtlas

More...PeptideAtlasi		O00192

PRoteomics IDEntifications database

More...PRIDEi		O00192

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		47770 [O00192-1]
47771 [O00192-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O00192

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

More...PhosphoSitePlusi		O00192

SwissPalm database of S-palmitoylation events

More...SwissPalmi		O00192

<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 all the examined tissues including heart, brain, liver and kidney. Found at low level in lung.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000099889, Expressed in right hemisphere of cerebellum and 238 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O00192, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O00192, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000099889, Tissue enhanced (brain)

<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

Interacts (via the extreme C-terminus) with FRMPD2 (via the PDZ 2 domain).

Interacts with CCDC85B (PubMed:25009281).

2 Publications

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		106914, 24 interactors

Protein interaction database and analysis system

More...IntActi		O00192, 12 interactors

Molecular INTeraction database

More...MINTi		O00192

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000263207

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O00192, 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

More...SMRi		O00192

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati348 – 387ARM 1Add BLAST40
Repeati390 – 429ARM 2Add BLAST40
Repeati433 – 467ARM 3Add BLAST35
Repeati468 – 508ARM 4Add BLAST41
Repeati526 – 565ARM 5Add BLAST40
Repeati575 – 622ARM 6Add BLAST48
Repeati646 – 686ARM 7Add BLAST41
Repeati699 – 738ARM 8Add BLAST40
Repeati739 – 781ARM 9Add BLAST43
Repeati782 – 826ARM 10Add BLAST45

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili8 – 46Sequence analysisAdd BLAST39

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi607 – 623Nuclear localization signalSequence analysisAdd BLAST17

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 amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi608 – 611Poly-Arg4

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the beta-catenin family.Curated

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1048, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157027

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_009111_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O00192

Identification of Orthologs from Complete Genome Data

More...OMAi		CNIGNGQ

Database of Orthologous Groups

More...OrthoDBi		233858at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O00192

TreeFam database of animal gene trees

More...TreeFami		TF321877

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR016024, ARM-type_fold
IPR000225, Armadillo
IPR028444, ARVCF
IPR028435, Plakophilin/d_Catenin

The PANTHER Classification System

More...PANTHERi		PTHR10372, PTHR10372, 1 hit
PTHR10372:SF5, PTHR10372:SF5, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00514, Arm, 4 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00185, ARM, 6 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48371, SSF48371, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50176, ARM_REPEAT, 3 hits

<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>Sequences (2+)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 describes 2 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform Long (identifier: O00192-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MEDCNVHSAA SILASVKEQE ARFERLTRAL EQERRHVALQ LERAQQPGMV 
        60         70         80         90        100
SGGMGSGQPL PMAWQQLVLQ EQSPGSQASL ATMPEAPDVL EETVTVEEDP 
       110        120        130        140        150
GTPTSHVSIV TSEDGTTRRT ETKVTKTVKT VTTRTVRQVP VGPDGLPLLD 
       160        170        180        190        200
GGPPLGPFAD GALDRHFLLR GGGPVATLSR AYLSSGGGFP EGPEPRDSPS 
       210        220        230        240        250
YGSLSRGLGM RPPRAGPLGP GPGDGCFTLP GHREAFPVGP EPGPPGGRSL 
       260        270        280        290        300
PERFQAEPYG LEDDTRSLAA DDEGGPELEP DYGTATRRRP ECGRGLHTRA 
       310        320        330        340        350
YEDTADDGGE LADERPAFPM VTAPLAQPER GSMGSLDRLV RRSPSVDSAR 
       360        370        380        390        400
KEPRWRDPEL PEVLAMLRHP VDPVKANAAA YLQHLCFENE GVKRRVRQLR 
       410        420        430        440        450
GLPLLVALLD HPRAEVRRRA CGALRNLSYG RDTDNKAAIR DCGGVPALVR 
       460        470        480        490        500
LLRAARDNEV RELVTGTLWN LSSYEPLKMV IIDHGLQTLT HEVIVPHSGW 
       510        520        530        540        550
EREPNEDSKP RDAEWTTVFK NTSGCLRNVS SDGAEARRRL RECEGLVDAL 
       560        570        580        590        600
LHALQSAVGR KDTDNKSVEN CVCIMRNLSY HVHKEVPGAD RYQEAEPGPL 
       610        620        630        640        650
GSAVGSQRRR RDDASCFGGK KAKEEWFHQG KKDGEMDRNF DTLDLPKRTE 
       660        670        680        690        700
AAKGFELLYQ PEVVRLYLSL LTESRNFNTL EAAAGALQNL SAGNWMWATY 
       710        720        730        740        750
IRATVRKERG LPVLVELLQS ETDKVVRAVA IALRNLSLDR RNKDLIGSYA 
       760        770        780        790        800
MAELVRNVRN AQAPPRPGAC LEEDTVVAVL NTIHEIVSDS LDNARSLLQA 
       810        820        830        840        850
RGVPALVALV ASSQSVREAK AASHVLQTVW SYKELRGTLQ KDGWTKARFQ 
       860        870        880        890        900
SAAATAKGPK GALSPGGFDD STLPLVDKSL EGEKTGSRDV IPMDALGPDG 
       910        920        930        940        950
YSTVDRRERR PRGASSAGEA SEKEPLKLDP SRKAPPPGPS RPAVRLVDAV 
       960 
GDAKPQPVDS WV
Length:962
Mass (Da):104,642
Last modified:July 1, 1997 - 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:i74A1814A022FF2B1
GO
Isoform Short (identifier: O00192-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-69: MEDCNVHSAASILASVKEQEARFERLTRALEQERRHVALQLERAQQPGMVSGGMGSGQPLPMAWQQLVL → MPAELR

Show »
Length:899
Mass (Da):97,685
Checksum:i024573C32E636D09
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PDC3E9PDC3_HUMAN
Armadillo repeat protein deleted in...
ARVCF
956Annotation 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>
C9JJX6C9JJX6_HUMAN
Armadillo repeat protein deleted in...
ARVCF
893Annotation 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>

Natural variant

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_020408175V → A. Corresponds to variant dbSNP:rs2240717Ensembl.1
Natural variantiVAR_033529220P → L. Corresponds to variant dbSNP:rs2073748Ensembl.1
Natural variantiVAR_053812539R → Q. Corresponds to variant dbSNP:rs16982871EnsemblClinVar.1
Natural variantiVAR_024692906R → QCombined sourcesCorresponds to variant dbSNP:rs165815Ensembl.1
Natural variantiVAR_033531909R → Q. Corresponds to variant dbSNP:rs34638476EnsemblClinVar.1
Natural variantiVAR_033530909R → W. Corresponds to variant dbSNP:rs34687532Ensembl.1
Natural variantiVAR_033532912R → W. Corresponds to variant dbSNP:rs34445280EnsemblClinVar.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0067391 – 69MEDCN…QQLVL → MPAELR in isoform Short. 1 PublicationAdd BLAST69

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
U51269 mRNA Translation: AAC51202.1
AC005663 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS13771.1 [O00192-1]

NCBI Reference Sequences

More...RefSeqi		NP_001661.1, NM_001670.2 [O00192-1]
XP_006724310.1, XM_006724247.3 [O00192-2]
XP_011528482.1, XM_011530180.1 [O00192-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000263207; ENSP00000263207; ENSG00000099889 [O00192-1]
ENST00000401994; ENSP00000384341; ENSG00000099889 [O00192-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		421

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:421

UCSC genome browser

More...UCSCi		uc002zqz.4, human [O00192-1]

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
U51269 mRNA Translation: AAC51202.1
AC005663 Genomic DNA No translation available.
CCDSiCCDS13771.1 [O00192-1]
RefSeqiNP_001661.1, NM_001670.2 [O00192-1]
XP_006724310.1, XM_006724247.3 [O00192-2]
XP_011528482.1, XM_011530180.1 [O00192-1]

3D structure databases

SMRiO00192
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi106914, 24 interactors
IntActiO00192, 12 interactors
MINTiO00192
STRINGi9606.ENSP00000263207

PTM databases

iPTMnetiO00192
PhosphoSitePlusiO00192
SwissPalmiO00192

Polymorphism and mutation databases

BioMutaiARVCF

Proteomic databases

EPDiO00192
jPOSTiO00192
MassIVEiO00192
MaxQBiO00192
PaxDbiO00192
PeptideAtlasiO00192
PRIDEiO00192
ProteomicsDBi47770 [O00192-1]
47771 [O00192-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		4255, 89 antibodies

The DNASU plasmid repository

More...DNASUi		421

Genome annotation databases

EnsembliENST00000263207; ENSP00000263207; ENSG00000099889 [O00192-1]
ENST00000401994; ENSP00000384341; ENSG00000099889 [O00192-2]
GeneIDi421
KEGGihsa:421
UCSCiuc002zqz.4, human [O00192-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		421
DisGeNETi421
EuPathDBiHostDB:ENSG00000099889.13

GeneCards: human genes, protein and diseases

More...GeneCardsi		ARVCF
HGNCiHGNC:728, ARVCF
HPAiENSG00000099889, Tissue enhanced (brain)
MalaCardsiARVCF
MIMi602269, gene
neXtProtiNX_O00192
OpenTargetsiENSG00000099889
Orphaneti567, 22q11.2 deletion syndrome
PharmGKBiPA25018

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1048, Eukaryota
GeneTreeiENSGT00940000157027
HOGENOMiCLU_009111_1_0_1
InParanoidiO00192
OMAiCNIGNGQ
OrthoDBi233858at2759
PhylomeDBiO00192
TreeFamiTF321877

Enzyme and pathway databases

PathwayCommonsiO00192
SignaLinkiO00192
SIGNORiO00192

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		421, 9 hits in 846 CRISPR screens

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

More...ChiTaRSi		ARVCF, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ARVCF

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

More...GenomeRNAii		421
PharosiO00192, Tbio

Protein Ontology

More...PROi		PR:O00192
RNActiO00192, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000099889, Expressed in right hemisphere of cerebellum and 238 other tissues
ExpressionAtlasiO00192, baseline and differential
GenevisibleiO00192, HS

Family and domain databases

InterProiView protein in InterPro
IPR016024, ARM-type_fold
IPR000225, Armadillo
IPR028444, ARVCF
IPR028435, Plakophilin/d_Catenin
PANTHERiPTHR10372, PTHR10372, 1 hit
PTHR10372:SF5, PTHR10372:SF5, 1 hit
PfamiView protein in Pfam
PF00514, Arm, 4 hits
SMARTiView protein in SMART
SM00185, ARM, 6 hits
SUPFAMiSSF48371, SSF48371, 1 hit
PROSITEiView protein in PROSITE
PS50176, ARM_REPEAT, 3 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiARVC_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: O00192
Secondary accession number(s): B7WNV2
<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: July 1, 1997
Last modified: December 2, 2020
This is version 179 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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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