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Entry version 169 (08 May 2019)
Sequence version 1 (01 Jul 1997)
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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

GO - Biological processi

<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

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_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:
Armadillo repeat protein deleted in velo-cardio-facial syndrome
<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:ARVCF
<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 22

Organism-specific databases

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

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.<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

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 human proteome resource

More...
ProteomicsDBi
47770
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 224 organ(s), highest expression level in right hemisphere of cerebellum

ExpressionAtlas, Differential and Baseline Expression

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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
CAB016162
HPA055264
HPA063675

<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 (via the extreme C-terminus) with FRMPD2 (via the PDZ 2 domain).1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
106914, 22 interactors

Protein interaction database and analysis system

More...
IntActi
O00192, 1 interactor

Molecular INTeraction database

More...
MINTi
O00192

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000263207

<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...

MobiDB: a database of protein disorder and mobility annotations

More...
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 ‘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
ENOG410Y21Q LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157027

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231862

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O00192

Identification of Orthologs from Complete Genome Data

More...
OMAi
WSTYIRA

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_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 (2+)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 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.<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 '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
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: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>

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:rs34638476Ensembl.1
Natural variantiVAR_033530909R → W. Corresponds to variant dbSNP:rs34687532Ensembl.1
Natural variantiVAR_033532912R → W. Corresponds to variant dbSNP:rs34445280Ensembl.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

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EMBLi

GenBank nucleotide sequence database

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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

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GeneIDi
421

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:421

UCSC genome browser

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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...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106914, 22 interactors
IntActiO00192, 1 interactor
MINTiO00192
STRINGi9606.ENSP00000263207

PTM databases

iPTMnetiO00192
PhosphoSitePlusiO00192
SwissPalmiO00192

Polymorphism and mutation databases

BioMutaiARVCF

Proteomic databases

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

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
421
Structural Biology KnowledgebaseSearch...

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

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CTDi
421
DisGeNETi421

GeneCards: human genes, protein and diseases

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GeneCardsi
ARVCF
HGNCiHGNC:728 ARVCF
HPAiCAB016162
HPA055264
HPA063675
MalaCardsiARVCF
MIMi602269 gene
neXtProtiNX_O00192
OpenTargetsiENSG00000099889
Orphaneti567 22q11.2 deletion syndrome
PharmGKBiPA25018

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG1048 Eukaryota
ENOG410Y21Q LUCA
GeneTreeiENSGT00940000157027
HOGENOMiHOG000231862
InParanoidiO00192
OMAiWSTYIRA
OrthoDBi233858at2759
PhylomeDBiO00192
TreeFamiTF321877

Enzyme and pathway databases

SignaLinkiO00192
SIGNORiO00192

Miscellaneous databases

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

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ChiTaRSi
ARVCF human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ARVCF

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

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GenomeRNAii
421

Protein Ontology

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PROi
PR:O00192

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000099889 Expressed in 224 organ(s), highest expression level in right hemisphere of cerebellum
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

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ProtoNeti
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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 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_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: December 1, 2000
Last sequence update: July 1, 1997
Last modified: May 8, 2019
This is version 169 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 chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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