Version 5.4
Homo sapiens Gene: ARVCF
Summary
InnateDB Gene IDBG-1524.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ARVCF
Gene Name armadillo repeat gene deleted in velocardiofacial syndrome
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000099889
Encoded Proteins
IDBP-1526
armadillo repeat gene deleted in velocardiofacial syndrome
IDBP-292536
armadillo repeat gene deleted in velocardiofacial syndrome
IDBP-292538
armadillo repeat gene deleted in velocardiofacial syndrome
IDBP-292539
armadillo repeat gene deleted in velocardiofacial syndrome
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This family plays an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. The ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS), a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. The ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein. [provided by RefSeq, Jun 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 22:19969896-20016808
Strand Reverse strand
Band q11.21
Transcripts
ENST00000263207 ENSP00000263207
ENST00000406259 ENSP00000385444
ENST00000401994 ENSP00000384341
ENST00000406522 ENSP00000384732
ENST00000495096
ENST00000480792
ENST00000473551
ENST00000487793
ENST00000492625
ENST00000462319
ENST00000467828
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 7 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005488 binding
GO:0005515 protein binding
Biological Process
GO:0007155 cell adhesion
GO:0007275 multicellular organismal development
GO:0016337 single organismal cell-cell adhesion
GO:0016339 calcium-dependent cell-cell adhesion
Cellular Component
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000000325
View Gene Order
ENSBTAG00000001473
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.713616 Hs.736126
RefSeq NM_001670 XM_005261243 XM_006724247 XM_006724248 XM_006724249 XM_006724250
HUGO
OMIM
CCDS CCDS13771
HPRD 03778
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca