ID   ARVC_HUMAN              Reviewed;         962 AA.
AC   O00192; B7WNV2;
DT   01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
DT   01-JUL-1997, sequence version 1.
DT   03-NOV-2009, entry version 91.
DE   RecName: Full=Armadillo repeat protein deleted in velo-cardio-facial syndrome;
GN   Name=ARVCF;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LONG AND SHORT).
RX   MEDLINE=97271559; PubMed=9126485; DOI=10.1006/geno.1997.4627;
RA   Sirotkin H., O'Donnell H., DasGupta R., Halford S., St Jore B.,
RA   Puech A., Parimoo S., Morrow B., Skoultchi A., Weissman S.,
RA   Scambler P., Kucherlapati R.;
RT   "Identification of a new human catenin gene family member (ARVCF) from
RT   the region deleted in velo-cardio-facial syndrome.";
RL   Genomics 41:75-83(1997).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   MEDLINE=20057165; PubMed=10591208; DOI=10.1038/990031;
RA   Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M.,
RA   Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K.,
RA   Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P.,
RA   Bird C.P., Blakey S.E., Bridgeman A.M., Buck D., Burgess J.,
RA   Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G.,
RA   Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R.,
RA   Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E.,
RA   Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G.,
RA   Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
RA   Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
RA   Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S.,
RA   Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A.,
RA   Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M.,
RA   Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T.,
RA   Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J.,
RA   Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T.,
RA   Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T.,
RA   Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L.,
RA   Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M.,
RA   Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
RA   Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
RA   Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
RA   Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J.,
RA   Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S.,
RA   Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T.,
RA   Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I.,
RA   Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H.,
RA   Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L.,
RA   Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z.,
RA   Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P.,
RA   Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S.,
RA   Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J.,
RA   Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T.,
RA   Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J.,
RA   Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA   Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S.,
RA   Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E.,
RA   Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P.,
RA   Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E.,
RA   O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X.,
RA   Khan A.S., Lane L., Tilahun Y., Wright H.;
RT   "The DNA sequence of human chromosome 22.";
RL   Nature 402:489-495(1999).
RN   [3]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-642 AND SER-864, AND
RP   MASS SPECTROMETRY.
RX   PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA   Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA   Elledge S.J., Gygi S.P.;
RT   "A quantitative atlas of mitotic phosphorylation.";
RL   Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
CC   -!- FUNCTION: Involved in protein-protein interactions at adherens
CC       junctions.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=Long;
CC         IsoId=O00192-1; Sequence=Displayed;
CC       Name=Short;
CC         IsoId=O00192-2; Sequence=VSP_006739;
CC   -!- TISSUE SPECIFICITY: Found in all the examined tissues including
CC       heart, brain, liver and kidney. Found at low level in lung.
CC   -!- SIMILARITY: Belongs to the beta-catenin family.
CC   -!- SIMILARITY: Contains 10 ARM repeats.
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DR   EMBL; U51269; AAC51202.1; -; mRNA.
DR   EMBL; AC005663; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   IPI; IPI00010490; -.
DR   IPI; IPI00220492; -.
DR   RefSeq; NP_001661.1; -.
DR   UniGene; Hs.713616; -.
DR   HSSP; Q02248; 1M1E.
DR   STRING; O00192; -.
DR   PhosphoSite; O00192; -.
DR   PRIDE; O00192; -.
DR   Ensembl; ENST00000263207; ENSP00000263207; ENSG00000099889; Homo sapiens.
DR   Ensembl; ENST00000344269; ENSP00000342042; ENSG00000099889; Homo sapiens.
DR   Ensembl; ENST00000401994; ENSP00000384341; ENSG00000099889; Homo sapiens.
DR   Ensembl; ENST00000406259; ENSP00000385444; ENSG00000099889; Homo sapiens.
DR   Ensembl; ENST00000406522; ENSP00000384732; ENSG00000099889; Homo sapiens.
DR   Ensembl; ENST00000430689; ENSP00000404252; ENSG00000099889; Homo sapiens.
DR   GeneID; 421; -.
DR   KEGG; hsa:421; -.
DR   UCSC; uc002zqz.1; human.
DR   CTD; 421; -.
DR   GeneCards; GC22M018331; -.
DR   H-InvDB; HIX0016247; -.
DR   HGNC; HGNC:728; ARVCF.
DR   HPA; CAB016162; -.
DR   MIM; 602269; gene.
DR   Orphanet; 567; Monosomy 22q11.
DR   PharmGKB; PA25018; -.
DR   HOGENOM; O00192; -.
DR   HOVERGEN; O00192; -.
DR   OMA; TYIRATV; -.
DR   NextBio; 1779; -.
DR   ArrayExpress; O00192; -.
DR   Bgee; O00192; -.
DR   Genevestigator; O00192; -.
DR   GermOnline; ENSG00000099889; Homo sapiens.
DR   GO; GO:0005622; C:intracellular; TAS:ProtInc.
DR   GO; GO:0005515; F:protein binding; IEA:UniProtKB-KW.
DR   GO; GO:0007155; P:cell adhesion; TAS:ProtInc.
DR   GO; GO:0007275; P:multicellular organismal development; TAS:ProtInc.
DR   InterPro; IPR011989; ARM-like.
DR   InterPro; IPR000225; Armadillo.
DR   Gene3D; G3DSA:1.25.10.10; ARM-like; 1.
DR   Pfam; PF00514; Arm; 4.
DR   SMART; SM00185; ARM; 6.
DR   PROSITE; PS50176; ARM_REPEAT; 3.
PE   1: Evidence at protein level;
KW   Alternative splicing; Cell adhesion; Coiled coil; Complete proteome;
KW   Phosphoprotein; Polymorphism; Repeat.
FT   CHAIN         1    962       Armadillo repeat protein deleted in velo-
FT                                cardio-facial syndrome.
FT                                /FTId=PRO_0000064294.
FT   REPEAT      348    387       ARM 1.
FT   REPEAT      390    429       ARM 2.
FT   REPEAT      433    467       ARM 3.
FT   REPEAT      468    508       ARM 4.
FT   REPEAT      526    565       ARM 5.
FT   REPEAT      575    622       ARM 6.
FT   REPEAT      646    686       ARM 7.
FT   REPEAT      699    738       ARM 8.
FT   REPEAT      739    781       ARM 9.
FT   REPEAT      782    826       ARM 10.
FT   COILED        8     46       Potential.
FT   MOTIF       607    623       Nuclear localization signal (Potential).
FT   COMPBIAS    608    611       Poly-Arg.
FT   MOD_RES     267    267       Phosphoserine (By similarity).
FT   MOD_RES     642    642       Phosphothreonine.
FT   MOD_RES     864    864       Phosphoserine.
FT   VAR_SEQ       1     69       MEDCNVHSAASILASVKEQEARFERLTRALEQERRHVALQL
FT                                ERAQQPGMVSGGMGSGQPLPMAWQQLVL -> MPAELR
FT                                (in isoform Short).
FT                                /FTId=VSP_006739.
FT   VARIANT     175    175       V -> A (in dbSNP:rs2240717).
FT                                /FTId=VAR_020408.
FT   VARIANT     220    220       P -> L (in dbSNP:rs2073748).
FT                                /FTId=VAR_033529.
FT   VARIANT     539    539       R -> Q (in dbSNP:rs16982871).
FT                                /FTId=VAR_053812.
FT   VARIANT     906    906       R -> Q (in dbSNP:rs165815).
FT                                /FTId=VAR_024692.
FT   VARIANT     909    909       R -> Q (in dbSNP:rs34638476).
FT                                /FTId=VAR_033531.
FT   VARIANT     909    909       R -> W (in dbSNP:rs34687532).
FT                                /FTId=VAR_033530.
FT   VARIANT     912    912       R -> W (in dbSNP:rs34445280).
FT                                /FTId=VAR_033532.
SQ   SEQUENCE   962 AA;  104642 MW;  74A1814A022FF2B1 CRC64;
     MEDCNVHSAA SILASVKEQE ARFERLTRAL EQERRHVALQ LERAQQPGMV SGGMGSGQPL
     PMAWQQLVLQ EQSPGSQASL ATMPEAPDVL EETVTVEEDP GTPTSHVSIV TSEDGTTRRT
     ETKVTKTVKT VTTRTVRQVP VGPDGLPLLD GGPPLGPFAD GALDRHFLLR GGGPVATLSR
     AYLSSGGGFP EGPEPRDSPS YGSLSRGLGM RPPRAGPLGP GPGDGCFTLP GHREAFPVGP
     EPGPPGGRSL PERFQAEPYG LEDDTRSLAA DDEGGPELEP DYGTATRRRP ECGRGLHTRA
     YEDTADDGGE LADERPAFPM VTAPLAQPER GSMGSLDRLV RRSPSVDSAR KEPRWRDPEL
     PEVLAMLRHP VDPVKANAAA YLQHLCFENE GVKRRVRQLR GLPLLVALLD HPRAEVRRRA
     CGALRNLSYG RDTDNKAAIR DCGGVPALVR LLRAARDNEV RELVTGTLWN LSSYEPLKMV
     IIDHGLQTLT HEVIVPHSGW EREPNEDSKP RDAEWTTVFK NTSGCLRNVS SDGAEARRRL
     RECEGLVDAL LHALQSAVGR KDTDNKSVEN CVCIMRNLSY HVHKEVPGAD RYQEAEPGPL
     GSAVGSQRRR RDDASCFGGK KAKEEWFHQG KKDGEMDRNF DTLDLPKRTE AAKGFELLYQ
     PEVVRLYLSL LTESRNFNTL EAAAGALQNL SAGNWMWATY IRATVRKERG LPVLVELLQS
     ETDKVVRAVA IALRNLSLDR RNKDLIGSYA MAELVRNVRN AQAPPRPGAC LEEDTVVAVL
     NTIHEIVSDS LDNARSLLQA RGVPALVALV ASSQSVREAK AASHVLQTVW SYKELRGTLQ
     KDGWTKARFQ SAAATAKGPK GALSPGGFDD STLPLVDKSL EGEKTGSRDV IPMDALGPDG
     YSTVDRRERR PRGASSAGEA SEKEPLKLDP SRKAPPPGPS RPAVRLVDAV GDAKPQPVDS
     WV
//