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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-Experimental evidence at protein leveli

Functioni

Involved in protein-protein interactions at adherens junctions.

GO - Biological processi

  • calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules Source: InterPro
  • cell adhesion Source: ProtInc
  • multicellular organism development Source: ProtInc
  • single organismal cell-cell adhesion Source: InterPro
Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Enzyme and pathway databases

BioCyciZFISH:ENSG00000099889-MONOMER.
SignaLinkiO00192.

Names & Taxonomyi

Protein namesi
Recommended name:
Armadillo repeat protein deleted in velo-cardio-facial syndrome
Gene namesi
Name:ARVCF
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:728. ARVCF.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: Ensembl
  • intracellular Source: ProtInc
  • nucleus Source: Ensembl
  • plasma membrane Source: Ensembl
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

DisGeNETi421.
MalaCardsiARVCF.
OpenTargetsiENSG00000099889.
Orphaneti567. 22q11.2 deletion syndrome.
PharmGKBiPA25018.

Polymorphism and mutation databases

BioMutaiARVCF.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000642941 – 962Armadillo repeat protein deleted in velo-cardio-facial syndromeAdd BLAST962

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

EPDiO00192.
MaxQBiO00192.
PaxDbiO00192.
PeptideAtlasiO00192.
PRIDEiO00192.

PTM databases

iPTMnetiO00192.
PhosphoSitePlusiO00192.
SwissPalmiO00192.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000099889.
ExpressionAtlasiO00192. baseline and differential.
GenevisibleiO00192. HS.

Organism-specific databases

HPAiCAB016162.
HPA055264.
HPA063675.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi106914. 16 interactors.
MINTiMINT-231540.
STRINGi9606.ENSP00000263207.

Structurei

3D structure databases

ProteinModelPortaliO00192.
SMRiO00192.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Coiled coili8 – 46Sequence analysisAdd BLAST39

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi607 – 623Nuclear localization signalSequence analysisAdd BLAST17

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi608 – 611Poly-Arg4

Sequence similaritiesi

Belongs to the beta-catenin family.Curated
Contains 10 ARM repeats.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG1048. Eukaryota.
ENOG410Y21Q. LUCA.
GeneTreeiENSGT00760000119167.
HOGENOMiHOG000231862.
HOVERGENiHBG004284.
InParanoidiO00192.
OMAiHEVIVPH.
OrthoDBiEOG091G018V.
PhylomeDBiO00192.
TreeFamiTF321877.

Family and domain databases

Gene3Di1.25.10.10. 2 hits.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR000225. Armadillo.
IPR028444. ARVCF.
IPR028435. Plakophilin/d_Catenin.
[Graphical view]
PANTHERiPTHR10372. PTHR10372. 1 hit.
PTHR10372:SF5. PTHR10372:SF5. 1 hit.
PfamiPF00514. Arm. 4 hits.
[Graphical view]
SMARTiSM00185. ARM. 6 hits.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 2 hits.
PROSITEiPS50176. ARM_REPEAT. 3 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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
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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_020408175V → A.Corresponds to variant rs2240717dbSNPEnsembl.1
Natural variantiVAR_033529220P → L.Corresponds to variant rs2073748dbSNPEnsembl.1
Natural variantiVAR_053812539R → Q.Corresponds to variant rs16982871dbSNPEnsembl.1
Natural variantiVAR_024692906R → Q.Combined sourcesCorresponds to variant rs165815dbSNPEnsembl.1
Natural variantiVAR_033531909R → Q.Corresponds to variant rs34638476dbSNPEnsembl.1
Natural variantiVAR_033530909R → W.Corresponds to variant rs34687532dbSNPEnsembl.1
Natural variantiVAR_033532912R → W.Corresponds to variant rs34445280dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0067391 – 69MEDCN…QQLVL → MPAELR in isoform Short. 1 PublicationAdd BLAST69

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]
UniGeneiHs.713616.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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]
UniGeneiHs.713616.

3D structure databases

ProteinModelPortaliO00192.
SMRiO00192.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106914. 16 interactors.
MINTiMINT-231540.
STRINGi9606.ENSP00000263207.

PTM databases

iPTMnetiO00192.
PhosphoSitePlusiO00192.
SwissPalmiO00192.

Polymorphism and mutation databases

BioMutaiARVCF.

Proteomic databases

EPDiO00192.
MaxQBiO00192.
PaxDbiO00192.
PeptideAtlasiO00192.
PRIDEiO00192.

Protocols and materials databases

DNASUi421.
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

CTDi421.
DisGeNETi421.
GeneCardsiARVCF.
HGNCiHGNC:728. ARVCF.
HPAiCAB016162.
HPA055264.
HPA063675.
MalaCardsiARVCF.
MIMi602269. gene.
neXtProtiNX_O00192.
OpenTargetsiENSG00000099889.
Orphaneti567. 22q11.2 deletion syndrome.
PharmGKBiPA25018.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1048. Eukaryota.
ENOG410Y21Q. LUCA.
GeneTreeiENSGT00760000119167.
HOGENOMiHOG000231862.
HOVERGENiHBG004284.
InParanoidiO00192.
OMAiHEVIVPH.
OrthoDBiEOG091G018V.
PhylomeDBiO00192.
TreeFamiTF321877.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000099889-MONOMER.
SignaLinkiO00192.

Miscellaneous databases

ChiTaRSiARVCF. human.
GeneWikiiARVCF.
GenomeRNAii421.
PROiO00192.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000099889.
ExpressionAtlasiO00192. baseline and differential.
GenevisibleiO00192. HS.

Family and domain databases

Gene3Di1.25.10.10. 2 hits.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR000225. Armadillo.
IPR028444. ARVCF.
IPR028435. Plakophilin/d_Catenin.
[Graphical view]
PANTHERiPTHR10372. PTHR10372. 1 hit.
PTHR10372:SF5. PTHR10372:SF5. 1 hit.
PfamiPF00514. Arm. 4 hits.
[Graphical view]
SMARTiSM00185. ARM. 6 hits.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 2 hits.
PROSITEiPS50176. ARM_REPEAT. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiARVC_HUMAN
AccessioniPrimary (citable) accession number: O00192
Secondary accession number(s): B7WNV2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: July 1, 1997
Last modified: November 2, 2016
This is version 154 of the entry and version 1 of the sequence. [Complete history]
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.

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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.