NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LONG AND SHORT).
DOI=10.1006/geno.1997.4627; PubMed=9126485 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome.";
Genomics 41:75-83(1997).

[2]

PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-642 AND SER-864, AND MASS SPECTROMETRY.
DOI=10.1073/pnas.0805139105; PubMed=18669648 [NCBI, ExPASy, EBI, Israel, Japan]
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.;
"A quantitative atlas of mitotic phosphorylation.";
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).

Comments

FUNCTION: Involved in protein-protein interactions at adherens junctions.
ALTERNATIVE PRODUCTS: 2 named isoforms [FASTA] produced by alternative splicing.

Name Long

Isoform ID O00192-1

This is the isoform sequence displayed in this entry.

Name Short

Isoform ID O00192-2

Features which should be applied to build the isoform sequence: VSP_006739.
TISSUE SPECIFICITY: Found in all the examined tissues including heart, brain, liver and kidney. Found at low level in lung.
DISEASE: Gene deleted in velo-cardio-facial syndrome (VCFS); it is hemizygous in all VCFS patients with interstitial deletions. This hemizygosity may play a role in the etiology of some of the phenotypes associated with VCFS characterized by a wide spectrum phenotypes, including conotruncal heart defects, cleft palate and facial dysmorphology.
SIMILARITY: Belongs to the beta-catenin family.
SIMILARITY: Contains 10 ARM repeats.

Copyright

Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.

Cross-references

Sequence databases

EMBL

U51269; AAC51202.1; -; mRNA.

[EMBL / GenBank / DDBJ] [CoDingSequence]

IPI

IPI00010490; -.
IPI00220492; -.

RefSeq

NP_001661.1; -.

UniGene

Hs.713616

3D structure databases

HSSP

Q02248; 1M1E. [HSSP ENTRY / PDB]

ModBase

O00192.

PTM databases

PhosphoSite

O00192; -.

Organism-specific databases

GC22M018331; -.

HIX0016247; -.

HGNC:728; ARVCF.

CAB016162; -.

192430; phenotype. [NCBI / EBI]
602269; gene. [NCBI / EBI]

Orphanet

567; Monosomy 22q11.

PharmGKB

PA25018; -.

Gene expression databases

Bgee

O00192; -.

GermOnline

ENSG00000099889; Homo sapiens.

Ontologies

GO:0005622;	Cellular component: intracellular (traceable author statement from ProtInc).
GO:0005515;	Molecular function: protein binding (inferred from electronic annotation from UniProtKB-KW).
GO:0007155;	Biological process: cell adhesion (traceable author statement from ProtInc).
GO:0007275;	Biological process: multicellular organismal development (traceable author statement from ProtInc).
QuickGo view.

Family and domain databases

InterPro

IPR011989; ARM-like.
IPR000225; Armadillo.
Graphical view of domain structure.

Gene3D

G3DSA:1.25.10.10; ARM-like; 1.

Pfam

PF00514; Arm; 4.
Pfam graphical view of domain structure.

SMART

SM00185; ARM; 6.
SMART graphical view of domain structure.

PROSITE

PS50176; ARM_REPEAT; 3.
PROSITE graphical view of domain structure (profiles).

Proteomic databases

PRIDE

O00192; -.

Genome annotation databases

Ensembl

ENSG00000099889; Homo sapiens. [Contig view]

GeneID

421; -.

KEGG

hsa:421; -.

Phylogenomic databases

HOGENOM

O00192; -.

HOVERGEN

O00192; -.

OMA

O00192; TYIRATV.

Other

1779; -.

ARVCF; Homo sapiens.

View cluster of proteins with at least 50% / 90% / 100% identity.

Keywords

Alternative splicing; Cell adhesion; Coiled coil; Phosphoprotein; Polymorphism; Repeat.

Features

Feature table viewer

Feature aligner

`Key`	`From To`	`Length`	`Description`	`FTId`
`CHAIN`	`1 962`	`962`	`Armadillo repeat protein deleted in velo-cardio-facial syndrome.`	`PRO_0000064294`
`REPEAT`	`348 387`	`40`	`ARM 1.`
`REPEAT`	`390 429`	`40`	`ARM 2.`
`REPEAT`	`433 467`	`35`	`ARM 3.`
`REPEAT`	`468 508`	`41`	`ARM 4.`
`REPEAT`	`526 565`	`40`	`ARM 5.`
`REPEAT`	`575 622`	`48`	`ARM 6.`
`REPEAT`	`646 686`	`41`	`ARM 7.`
`REPEAT`	`699 738`	`40`	`ARM 8.`
`REPEAT`	`739 781`	`43`	`ARM 9.`
`REPEAT`	`782 826`	`45`	`ARM 10.`
`COILED`	`8 46`	`39`	`Potential.`
`MOTIF`	`607 623`	`17`	`Nuclear localization signal (Potential).`
`COMPBIAS`	`608 611`	`4`	`Poly-Arg.`
`MOD_RES`	`267 267`		`Phosphoserine (By similarity).`
`MOD_RES`	`642 642`		`Phosphothreonine.`
`MOD_RES`	`864 864`		`Phosphoserine.`
`VAR_SEQ`	`1 69`		`MEDCNVHSAASILASVKEQEARFERLTRALEQERRHVALQ` `LERAQQPGMVSGGMGSGQPLPMAWQQLVL -> MPAELR (in isoform Short).`	`VSP_006739`
`VARIANT`	`175 175`	`1`	`V -> A (in dbSNP:rs2240717 [NCBI]).`	`VAR_020408`
`VARIANT`	`220 220`	`1`	`P -> L (in dbSNP:rs2073748 [NCBI]).`	`VAR_033529`
`VARIANT`	`539 539`	`1`	`R -> Q (in dbSNP:rs16982871 [NCBI]).`	`VAR_053812`
`VARIANT`	`906 906`	`1`	`R -> Q (in dbSNP:rs165815 [NCBI]).`	`VAR_024692`
`VARIANT`	`909 909`	`1`	`R -> Q (in dbSNP:rs34638476 [NCBI]).`	`VAR_033531`
`VARIANT`	`909 909`	`1`	`R -> W (in dbSNP:rs34687532 [NCBI]).`	`VAR_033530`
`VARIANT`	`912 912`	`1`	`R -> W (in dbSNP:rs34445280 [NCBI]).`	`VAR_033532`

Sequence information

Length: 962 AA [This is the length of the unprocessed precursor]

Molecular weight: 104642 Da [This is the MW of the unprocessed precursor]

CRC64: 74A1814A022FF2B1 [This is a checksum on the sequence]

        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

O00192 in FASTA format

View entry in raw text format (no links)
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	BLAST submission on ExPASy/SIB or at NCBI (USA)		Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
	ScanProsite, MotifScan		Submit a homology modeling request to SWISS-MODEL
	NPSA Sequence analysis tools