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Protein

Armadillo repeat protein deleted in velo-cardio-facial syndrome

Gene

ARVCF

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Involved in protein-protein interactions at adherens junctions.

GO - Molecular functioni

  • cadherin binding Source: GO_Central

GO - Biological processi

Keywordsi

Biological processCell adhesion

Enzyme and pathway databases

SignaLinkiO00192
SIGNORiO00192

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

EuPathDBiHostDB:ENSG00000099889.13
HGNCiHGNC:728 ARVCF
MIMi602269 gene
neXtProtiNX_O00192

Subcellular locationi

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

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
ProteomicsDBi47770
47771 [O00192-2]

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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi106914, 20 interactors
IntActiO00192, 1 interactor
MINTiO00192
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

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG1048 Eukaryota
ENOG410Y21Q LUCA
GeneTreeiENSGT00760000119167
HOGENOMiHOG000231862
HOVERGENiHBG004284
InParanoidiO00192
OMAiWSTYIRA
OrthoDBiEOG091G018V
PhylomeDBiO00192
TreeFamiTF321877

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

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 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
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

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:
C9JJX6C9JJX6_HUMAN
Armadillo repeat protein deleted in...
ARVCF
893Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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

Similar proteinsi

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, 20 interactors
IntActiO00192, 1 interactor
MINTiO00192
STRINGi9606.ENSP00000263207

PTM databases

iPTMnetiO00192
PhosphoSitePlusiO00192
SwissPalmiO00192

Polymorphism and mutation databases

BioMutaiARVCF

Proteomic databases

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

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
EuPathDBiHostDB:ENSG00000099889.13
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
OMAiWSTYIRA
OrthoDBiEOG091G018V
PhylomeDBiO00192
TreeFamiTF321877

Enzyme and pathway databases

SignaLinkiO00192
SIGNORiO00192

Miscellaneous databases

ChiTaRSiARVCF human
GeneWikiiARVCF
GenomeRNAii421
PROiPR:O00192
SOURCEiSearch...

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
ProtoNetiSearch...

Entry informationi

Entry nameiARVC_HUMAN
AccessioniPrimary (citable) accession number: O00192
Secondary accession number(s): B7WNV2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: July 1, 1997
Last modified: November 7, 2018
This is version 166 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
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