Reviewed, UniProtKB/Swiss-Prot O00192 (ARVC_HUMAN)

Names and origin

Protein names

Recommended name:
    Armadillo repeat protein deleted in velo-cardio-facial syndrome

Gene names

Name:

ARVCF

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	962 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Involved in protein-protein interactions at adherens junctions.
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 process	Cell adhesion
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil Repeat
PTM	Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	cell adhesion Ref.1 Traceable author statement. Source: ProtInc multicellular organismal development Ref.1 Traceable author statement. Source: ProtInc
Cellular component	intracellular Ref.1 Traceable author statement. Source: ProtInc
Molecular function	protein binding Inferred from electronic annotation. Source: UniProtKB-KW
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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 962	962	Armadillo repeat protein deleted in velo-cardio-facial syndrome		PRO_0000064294
Regions
	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 coil	8 – 46	39	Potential
	Motif	607 – 623	17	Nuclear localization signal Potential
	Compositional bias	608 – 611	4	Poly-Arg
Amino acid modifications
	Modified residue	267	1	Phosphoserine By similarity
	Modified residue	642	1	Phosphothreonine Ref.3
	Modified residue	864	1	Phosphoserine Ref.3
Natural variations
	Alternative sequence	1 – 69	69	MEDCN…QQLVL → MPAELR in isoform Short.		VSP_006739
	Natural variant	175	1	V → A: dbSNP rs2240717.		VAR_020408
	Natural variant	220	1	P → L: dbSNP rs2073748.		VAR_033529
	Natural variant	539	1	R → Q: dbSNP rs16982871.		VAR_053812
	Natural variant	906	1	R → Q: dbSNP rs165815.		VAR_024692
	Natural variant	909	1	R → Q: dbSNP rs34638476.		VAR_033531
	Natural variant	909	1	R → W: dbSNP rs34687532.		VAR_033530
	Natural variant	912	1	R → W: dbSNP rs34445280.		VAR_033532

Sequences

	Sequence		Length	Mass (Da)
	Isoform Long [UniParc]. Last modified July 1, 1997. Version 1. Checksum: 74A1814A022FF2B1	FASTA	962	104,642
	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
	Isoform Short. Checksum: 024573C32E636D09	FASTA	899	97,685
	10 20 30 40 50 60 MPAELRQEQS PGSQASLATM PEAPDVLEET VTVEEDPGTP TSHVSIVTSE DGTTRRTETK 70 80 90 100 110 120 VTKTVKTVTT RTVRQVPVGP DGLPLLDGGP PLGPFADGAL DRHFLLRGGG PVATLSRAYL 130 140 150 160 170 180 SSGGGFPEGP EPRDSPSYGS LSRGLGMRPP RAGPLGPGPG DGCFTLPGHR EAFPVGPEPG 190 200 210 220 230 240 PPGGRSLPER FQAEPYGLED DTRSLAADDE GGPELEPDYG TATRRRPECG RGLHTRAYED 250 260 270 280 290 300 TADDGGELAD ERPAFPMVTA PLAQPERGSM GSLDRLVRRS PSVDSARKEP RWRDPELPEV 310 320 330 340 350 360 LAMLRHPVDP VKANAAAYLQ HLCFENEGVK RRVRQLRGLP LLVALLDHPR AEVRRRACGA 370 380 390 400 410 420 LRNLSYGRDT DNKAAIRDCG GVPALVRLLR AARDNEVREL VTGTLWNLSS YEPLKMVIID 430 440 450 460 470 480 HGLQTLTHEV IVPHSGWERE PNEDSKPRDA EWTTVFKNTS GCLRNVSSDG AEARRRLREC 490 500 510 520 530 540 EGLVDALLHA LQSAVGRKDT DNKSVENCVC IMRNLSYHVH KEVPGADRYQ EAEPGPLGSA 550 560 570 580 590 600 VGSQRRRRDD ASCFGGKKAK EEWFHQGKKD GEMDRNFDTL DLPKRTEAAK GFELLYQPEV 610 620 630 640 650 660 VRLYLSLLTE SRNFNTLEAA AGALQNLSAG NWMWATYIRA TVRKERGLPV LVELLQSETD 670 680 690 700 710 720 KVVRAVAIAL RNLSLDRRNK DLIGSYAMAE LVRNVRNAQA PPRPGACLEE DTVVAVLNTI 730 740 750 760 770 780 HEIVSDSLDN ARSLLQARGV PALVALVASS QSVREAKAAS HVLQTVWSYK ELRGTLQKDG 790 800 810 820 830 840 WTKARFQSAA ATAKGPKGAL SPGGFDDSTL PLVDKSLEGE KTGSRDVIPM DALGPDGYST 850 860 870 880 890 VDRRERRPRG ASSAGEASEK EPLKLDPSRK APPPGPSRPA VRLVDAVGDA KPQPVDSWV

References

	« Hide 'large scale' referencesShow '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. , 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.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	U51269 mRNA. Translation: AAC51202.1. AC005663 Genomic DNA. No translation available.
IPI	IPI00010490. IPI00220492.
RefSeq	NP_001661.1.
UniGene	Hs.713616
3D structure databases
HSSP	HSSP built from PDB template 1M1E based on UniProtKB Q02248.
ModBase	Search...
Protein-protein interaction databases
STRING	O00192.
PTM databases
PhosphoSite	O00192.
Proteomic databases
PRIDE	O00192.
Genome annotation databases
Ensembl	ENST00000263207; ENSP00000263207; ENSG00000099889; Homo sapiens. [Genome view] ENST00000344269; ENSP00000342042; ENSG00000099889; Homo sapiens. [Genome view] ENST00000401994; ENSP00000384341; ENSG00000099889; Homo sapiens. [Genome view] ENST00000406259; ENSP00000385444; ENSG00000099889; Homo sapiens. [Genome view] ENST00000406522; ENSP00000384732; ENSG00000099889; Homo sapiens. [Genome view] ENST00000430689; ENSP00000404252; ENSG00000099889; Homo sapiens. [Genome view]
GeneID	421.
KEGG	hsa:421.
UCSC	uc002zqz.1. human.
Organism-specific databases
CTD	421.
GeneCards	GC22M018331.
H-InvDB	HIX0016247.
HGNC	HGNC:728. ARVCF.
HPA	CAB016162.
MIM	602269. gene.
Orphanet	567. Monosomy 22q11.
PharmGKB	PA25018.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	O00192.
HOVERGEN	O00192.
OMA	TYIRATV.
Gene expression databases
ArrayExpress	O00192.
Bgee	O00192.
Genevestigator	O00192.
GermOnline	ENSG00000099889. Homo sapiens.
Family and domain databases
InterPro	IPR011989. ARM-like. IPR000225. Armadillo. [Graphical view]
Gene3D	G3DSA:1.25.10.10. ARM-like. 1 hit.
Pfam	PF00514. Arm. 4 hits. [Graphical view]
SMART	SM00185. ARM. 6 hits. [Graphical view]
PROSITE	PS50176. ARM_REPEAT. 3 hits. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	1779.
SOURCE	Search...

Entry information

Entry name

ARVC_HUMAN

Accession

Primary (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:	November 3, 2009
This is version 91 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.