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O00192 (ARVC_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 107. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Armadillo repeat protein deleted in velo-cardio-facial syndrome
Gene names
Name:ARVCF
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length962 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Involved in protein-protein interactions at adherens junctions.

Subunit structure

Interacts (via the extreme C-terminus) with FRMPD2 (via the PDZ 2 domain). Ref.4

Tissue specificity

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

Sequence similarities

Belongs to the beta-catenin family.

Contains 10 ARM repeats.

Ontologies

Keywords
   Biological processCell adhesion
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
Repeat
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological processcell adhesion

Traceable author statement. Source: ProtInc

multicellular organismal development

Traceable author statement. Source: ProtInc

   Molecular functionprotein binding

Inferred from physical interaction Ref.4. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform Long (identifier: O00192-1)

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.
Isoform Short (identifier: O00192-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 962962Armadillo repeat protein deleted in velo-cardio-facial syndrome
PRO_0000064294

Regions

Repeat348 – 38740ARM 1
Repeat390 – 42940ARM 2
Repeat433 – 46735ARM 3
Repeat468 – 50841ARM 4
Repeat526 – 56540ARM 5
Repeat575 – 62248ARM 6
Repeat646 – 68641ARM 7
Repeat699 – 73840ARM 8
Repeat739 – 78143ARM 9
Repeat782 – 82645ARM 10
Coiled coil8 – 4639 Potential
Motif607 – 62317Nuclear localization signal Potential
Compositional bias608 – 6114Poly-Arg

Amino acid modifications

Modified residue2671Phosphoserine By similarity
Modified residue6421Phosphothreonine Ref.3 Ref.5
Modified residue8641Phosphoserine Ref.3
Modified residue8711Phosphoserine Ref.5
Modified residue8721Phosphothreonine Ref.5

Natural variations

Alternative sequence1 – 6969MEDCN…QQLVL → MPAELR in isoform Short.
VSP_006739
Natural variant1751V → A.
Corresponds to variant rs2240717 [ dbSNP | Ensembl ].
VAR_020408
Natural variant2201P → L.
Corresponds to variant rs2073748 [ dbSNP | Ensembl ].
VAR_033529
Natural variant5391R → Q.
Corresponds to variant rs16982871 [ dbSNP | Ensembl ].
VAR_053812
Natural variant9061R → Q.
Corresponds to variant rs165815 [ dbSNP | Ensembl ].
VAR_024692
Natural variant9091R → Q.
Corresponds to variant rs34638476 [ dbSNP | Ensembl ].
VAR_033531
Natural variant9091R → W.
Corresponds to variant rs34687532 [ dbSNP | Ensembl ].
VAR_033530
Natural variant9121R → W.
Corresponds to variant rs34445280 [ dbSNP | Ensembl ].
VAR_033532

Sequences

Sequence LengthMass (Da)Tools
Isoform Long [UniParc].

Last modified July 1, 1997. Version 1.
Checksum: 74A1814A022FF2B1

FASTA962104,642
        10         20         30         40         50         60 
MEDCNVHSAA SILASVKEQE ARFERLTRAL EQERRHVALQ LERAQQPGMV SGGMGSGQPL 

        70         80         90        100        110        120 
PMAWQQLVLQ EQSPGSQASL ATMPEAPDVL EETVTVEEDP GTPTSHVSIV TSEDGTTRRT 

       130        140        150        160        170        180 
ETKVTKTVKT VTTRTVRQVP VGPDGLPLLD GGPPLGPFAD GALDRHFLLR GGGPVATLSR 

       190        200        210        220        230        240 
AYLSSGGGFP EGPEPRDSPS YGSLSRGLGM RPPRAGPLGP GPGDGCFTLP GHREAFPVGP 

       250        260        270        280        290        300 
EPGPPGGRSL PERFQAEPYG LEDDTRSLAA DDEGGPELEP DYGTATRRRP ECGRGLHTRA 

       310        320        330        340        350        360 
YEDTADDGGE LADERPAFPM VTAPLAQPER GSMGSLDRLV RRSPSVDSAR KEPRWRDPEL 

       370        380        390        400        410        420 
PEVLAMLRHP VDPVKANAAA YLQHLCFENE GVKRRVRQLR GLPLLVALLD HPRAEVRRRA 

       430        440        450        460        470        480 
CGALRNLSYG RDTDNKAAIR DCGGVPALVR LLRAARDNEV RELVTGTLWN LSSYEPLKMV 

       490        500        510        520        530        540 
IIDHGLQTLT HEVIVPHSGW EREPNEDSKP RDAEWTTVFK NTSGCLRNVS SDGAEARRRL 

       550        560        570        580        590        600 
RECEGLVDAL LHALQSAVGR KDTDNKSVEN CVCIMRNLSY HVHKEVPGAD RYQEAEPGPL 

       610        620        630        640        650        660 
GSAVGSQRRR RDDASCFGGK KAKEEWFHQG KKDGEMDRNF DTLDLPKRTE AAKGFELLYQ 

       670        680        690        700        710        720 
PEVVRLYLSL LTESRNFNTL EAAAGALQNL SAGNWMWATY IRATVRKERG LPVLVELLQS 

       730        740        750        760        770        780 
ETDKVVRAVA IALRNLSLDR RNKDLIGSYA MAELVRNVRN AQAPPRPGAC LEEDTVVAVL 

       790        800        810        820        830        840 
NTIHEIVSDS LDNARSLLQA RGVPALVALV ASSQSVREAK AASHVLQTVW SYKELRGTLQ 

       850        860        870        880        890        900 
KDGWTKARFQ SAAATAKGPK GALSPGGFDD STLPLVDKSL EGEKTGSRDV IPMDALGPDG 

       910        920        930        940        950        960 
YSTVDRRERR PRGASSAGEA SEKEPLKLDP SRKAPPPGPS RPAVRLVDAV GDAKPQPVDS 


WV

« Hide

Isoform Short [UniParc].

Checksum: 024573C32E636D09
Show »

FASTA89997,685

References

« Hide 'large scale' references
[1]"Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome."
Sirotkin H., O'Donnell H., DasGupta R., Halford S., St Jore B., Puech A., Parimoo S., Morrow B., Skoultchi A., Weissman S., Scambler P., Kucherlapati R.
Genomics 41:75-83(1997) [PubMed: 9126485] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LONG AND SHORT).
[2]"The DNA sequence of human chromosome 22."
Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. expand/collapse author list , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
Nature 402:489-495(1999) [PubMed: 10591208] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-642 AND SER-864, MASS SPECTROMETRY.
Tissue: Cervix carcinoma.
[4]"PDZ-domain-directed basolateral targeting of the peripheral membrane protein FRMPD2 in epithelial cells."
Stenzel N., Fetzer C.P., Heumann R., Erdmann K.S.
J. Cell Sci. 122:3374-3384(2009) [PubMed: 19706687] [Abstract]
Cited for: INTERACTION WITH FRMPD2.
[5]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-642; SER-871 AND THR-872, MASS SPECTROMETRY.
Tissue: Leukemic T-cell.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ		U51269 mRNA. Translation: AAC51202.1.
AC005663 Genomic DNA. No translation available.
IPIIPI00010490.
IPI00220492.
RefSeqNP_001661.1. NM_001670.2.
UniGeneHs.713616.

3D structure databases

ProteinModelPortalO00192.
SMRO00192. Positions 353-852.
ModBaseSearch...

Protein-protein interaction databases

STRINGO00192.

PTM databases

PhosphoSiteO00192.

Proteomic databases

PRIDEO00192.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000263207; ENSP00000263207; ENSG00000099889.
ENST00000344269; ENSP00000342042; ENSG00000099889.
ENST00000401994; ENSP00000384341; ENSG00000099889.
GeneID421.
KEGGhsa:421.
UCSCuc002zqz.1. human.

Organism-specific databases

CTD421.
GeneCardsGC22M019957.
H-InvDBHIX0016247.
HGNCHGNC:728. ARVCF.
HPACAB016162.
MIM602269. gene.
neXtProtNX_O00192.
Orphanet567. Monosomy 22q11.
PharmGKBPA25018.
GenAtlasSearch...

Phylogenomic databases

eggNOGprNOG14183.
GeneTreeENSGT00550000074290.
HOGENOMHBG446401.
HOVERGENHBG004284.
InParanoidO00192.
OMAATYIRAT.
OrthoDBEOG4F1X2D.
PhylomeDBO00192.

Gene expression databases

ArrayExpressO00192.
BgeeO00192.
GenevestigatorO00192.
GermOnlineENSG00000099889. Homo sapiens.

Family and domain databases

InterProIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR000225. Armadillo.
[Graphical view]
Gene3DG3DSA:1.25.10.10. ARM-like. 2 hits.
PfamPF00514. Arm. 3 hits.
[Graphical view]
SMARTSM00185. ARM. 6 hits.
[Graphical view]
SUPFAMSSF48371. ARM-type_fold. 1 hit.
PROSITEPS50176. ARM_REPEAT. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

NextBio1779.
SOURCESearch...

Entry information

Entry nameARVC_HUMAN
AccessionPrimary (citable) accession number: O00192
Secondary accession number(s): B7WNV2
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: July 1, 1997
Last modified: January 25, 2012
This is version 107 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

Human chromosome 22

Human chromosome 22: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents