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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''Armadillo repeat protein deleted in velo-cardio-facial syndrome''' is a [[protein]] that in humans is encoded by the ''ARVCF'' [[gene]].<ref name="pmid9126485">{{cite journal | vauthors = Sirotkin H, O'Donnell H, DasGupta R, Halford S, St Jore B, Puech A, Parimoo S, Morrow B, Skoultchi A, Weissman SM, Scambler P, Kucherlapati R | title = Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome | journal = Genomics | volume = 41 | issue = 1 | pages = 75–83 | date = May 1997 | pmid = 9126485 | pmc =  | doi = 10.1006/geno.1997.4627 }}</ref><ref name="pmid15456900">{{cite journal | vauthors = Kausalya PJ, Phua DC, Hunziker W | title = Association of ARVCF with Zonula Occludens (ZO)-1 and ZO-2: Binding to PDZ-Domain Proteins and Cell-Cell Adhesion Regulate Plasma Membrane and Nuclear Localization of ARVCF | journal = Mol Biol Cell | volume = 15 | issue = 12 | pages = 5503–15 | date = November 2004 | pmid = 15456900 | pmc = 532029 | doi = 10.1091/mbc.E04-04-0350 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: ARVCF armadillo repeat gene deletes in velocardiofacial syndrome| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=421| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Armadillo repeat gene deletes in velocardiofacial syndrome
| HGNCid = 728
| Symbol = ARVCF
| AltSymbols =; FLJ35345
| OMIM = 602269
| ECnumber = 
| Homologene = 31046
| MGIid = 109620
| GeneAtlas_image1 = PBB_GE_ARVCF_205784_x_at_tn.png
| GeneAtlas_image2 = PBB_GE_ARVCF_217516_x_at_tn.png
| Function = {{GNF_GO|id=GO:0005198 |text = structural molecule activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005622 |text = intracellular}} {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0005856 |text = cytoskeleton}} {{GNF_GO|id=GO:0005886 |text = plasma membrane}}
| Process = {{GNF_GO|id=GO:0007155 |text = cell adhesion}} {{GNF_GO|id=GO:0007275 |text = multicellular organismal development}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 421
    | Hs_Ensembl = ENSG00000099889
    | Hs_RefseqProtein = NP_001661
    | Hs_RefseqmRNA = NM_001670
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 22
    | Hs_GenLoc_start = 18337421
    | Hs_GenLoc_end = 18384309
    | Hs_Uniprot = O00192
    | Mm_EntrezGene = 11877
    | Mm_Ensembl = ENSMUSG00000000325
    | Mm_RefseqmRNA = NM_033474
    | Mm_RefseqProtein = NP_258435
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 16
    | Mm_GenLoc_start = 18261837
    | Mm_GenLoc_end = 18320639
    | Mm_Uniprot = Q80WW5
  }}
}}
'''Armadillo repeat gene deletes in velocardiofacial syndrome''', also known as '''ARVCF''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: ARVCF armadillo repeat gene deletes in velocardiofacial syndrome| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=421| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
[[Armadillo repeat]] gene deleted in [[DiGeorge syndrome|Velo-Cardio-Facial syndrome]] (ARVCF) is a member of the [[catenin]] family which play 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. 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.  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.<ref name="entrez" />
{{PBB_Summary
| section_title =
| summary_text = Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family which play 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. 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.  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.<ref name="entrez">{{cite web | title = Entrez Gene: ARVCF armadillo repeat gene deletes in velocardiofacial syndrome| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=421| accessdate = }}</ref>
}}


==References==
== Interactions ==
{{reflist|2}}
ARVCF has been shown to [[Protein-protein interaction|interact]] with [[CDH15]].<ref name=pmid11058098>{{cite journal | vauthors = Kaufmann U, Zuppinger C, Waibler Z, Rudiger M, Urbich C, Martin B, Jockusch BM, Eppenberger H, Starzinski-Powitz A | title = The armadillo repeat region targets ARVCF to cadherin-based cellular junctions | journal = J. Cell Sci. | volume = 113 | issue = 22 | pages = 4121–35 | date = November 2000 | pmid = 11058098 | authorlink =  }}</ref>
==Further reading==
 
== References ==
{{reflist}}
 
==External links==
* {{UCSC gene info|ARVCF}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Lindsay EA, Goldberg R, Jurecic V, Morrow B, Carlson C, Kucherlapati RS, Shprintzen RJ, Baldini A | title = Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions | journal = Am. J. Med. Genet. | volume = 57 | issue = 3 | pages = 514–22 | year = 1995 | pmid = 7677167 | doi = 10.1002/ajmg.1320570339 }}
| citations =
* {{cite journal | vauthors = Sirotkin H, Morrow B, Saint-Jore B, Puech A, Das Gupta R, Patanjali SR, Skoultchi A, Weissman SM, Kucherlapati R | title = Identification, characterization, and precise mapping of a human gene encoding a novel membrane-spanning protein from the 22q11 region deleted in velo-cardio-facial syndrome | journal = Genomics | volume = 42 | issue = 2 | pages = 245–51 | year = 1997 | pmid = 9192844 | doi = 10.1006/geno.1997.4734 }}
*{{cite journal | author=Lindsay EA, Goldberg R, Jurecic V, ''et al.'' |title=Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions. |journal=Am. J. Med. Genet. |volume=57 |issue= 3 |pages= 514-22 |year= 1995 |pmid= 7677167 |doi= 10.1002/ajmg.1320570339 }}
* {{cite journal | vauthors = Bonné S, van Hengel J, van Roy F | title = Chromosomal mapping of human armadillo genes belonging to the p120(ctn)/plakophilin subfamily | journal = Genomics | volume = 51 | issue = 3 | pages = 452–4 | year = 1998 | pmid = 9721216 | doi = 10.1006/geno.1998.5398 }}
*{{cite journal | author=Sirotkin H, O'Donnell H, DasGupta R, ''et al.'' |title=Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome. |journal=Genomics |volume=41 |issue= 1 |pages= 75-83 |year= 1997 |pmid= 9126485 |doi=  }}
* {{cite journal | vauthors = Mariner DJ, Wang J, Reynolds AB | title = ARVCF localizes to the nucleus and adherens junction and is mutually exclusive with p120(ctn) in E-cadherin complexes | journal = J. Cell Sci. | volume = 113 | issue = 8 | pages = 1481–90 | year = 2000 | pmid = 10725230 | doi =  }}
*{{cite journal  | author=Sirotkin H, Morrow B, Saint-Jore B, ''et al.'' |title=Identification, characterization, and precise mapping of a human gene encoding a novel membrane-spanning protein from the 22q11 region deleted in velo-cardio-facial syndrome. |journal=Genomics |volume=42 |issue= 2 |pages= 245-51 |year= 1997 |pmid= 9192844 |doi= }}
* {{cite journal | vauthors = Kaufmann U, Zuppinger C, Waibler Z, Rudiger M, Urbich C, Martin B, Jockusch BM, Eppenberger H, Starzinski-Powitz A | title = The armadillo repeat region targets ARVCF to cadherin-based cellular junctions | journal = J. Cell Sci. | volume = 113 | issue = 22 | pages = 4121–35 | year = 2001 | pmid = 11058098 | doi =  }}
*{{cite journal | author=Bonné S, van Hengel J, van Roy F |title=Chromosomal mapping of human armadillo genes belonging to the p120(ctn)/plakophilin subfamily. |journal=Genomics |volume=51 |issue= 3 |pages= 452-4 |year= 1998 |pmid= 9721216 |doi= 10.1006/geno.1998.5398 }}
* {{cite journal | vauthors = Laura RP, Witt AS, Held HA, Gerstner R, Deshayes K, Koehler MF, Kosik KS, Sidhu SS, Lasky LA | title = The Erbin PDZ domain binds with high affinity and specificity to the carboxyl termini of delta-catenin and ARVCF | journal = J. Biol. Chem. | volume = 277 | issue = 15 | pages = 12906–14 | year = 2002 | pmid = 11821434 | doi = 10.1074/jbc.M200818200 }}
*{{cite journal | author=Mariner DJ, Wang J, Reynolds AB |title=ARVCF localizes to the nucleus and adherens junction and is mutually exclusive with p120(ctn) in E-cadherin complexes. |journal=J. Cell. Sci. |volume=113 ( Pt 8) |issue= |pages= 1481-90 |year= 2000 |pmid= 10725230 |doi=  }}
* {{cite journal | vauthors = Sanders AR, Rusu I, Duan J, Vander Molen JE, Hou C, Schwab SG, Wildenauer DB, Martinez M, Gejman PV | title = Haplotypic association spanning the 22q11.21 genes COMT and ARVCF with schizophrenia | journal = Mol. Psychiatry | volume = 10 | issue = 4 | pages = 353–65 | year = 2005 | pmid = 15340358 | doi = 10.1038/sj.mp.4001586 }}
*{{cite journal | author=Kaufmann U, Zuppinger C, Waibler Z, ''et al.'' |title=The armadillo repeat region targets ARVCF to cadherin-based cellular junctions. |journal=J. Cell. Sci. |volume=113 ( Pt 22) |issue= |pages= 4121-35 |year= 2001 |pmid= 11058098 |doi=  }}
* {{cite journal | vauthors = Ballif BA, Villén J, Beausoleil SA, Schwartz D, Gygi SP | title = Phosphoproteomic analysis of the developing mouse brain | journal = Mol. Cell. Proteomics | volume = 3 | issue = 11 | pages = 1093–101 | year = 2005 | pmid = 15345747 | doi = 10.1074/mcp.M400085-MCP200 }}
*{{cite journal | author=Laura RP, Witt AS, Held HA, ''et al.'' |title=The Erbin PDZ domain binds with high affinity and specificity to the carboxyl termini of delta-catenin and ARVCF. |journal=J. Biol. Chem. |volume=277 |issue= 15 |pages= 12906-14 |year= 2002 |pmid= 11821434 |doi= 10.1074/jbc.M200818200 }}
* {{cite journal | vauthors = Ulfig N, Chan WY | title = Expression of ARVCF in the human ganglionic eminence during fetal development | journal = Dev. Neurosci. | volume = 26 | issue = 1 | pages = 38–44 | year = 2005 | pmid = 15509897 | doi = 10.1159/000080710 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
* {{cite journal | vauthors = Michaelovsky E, Frisch A, Leor S, Stein D, Danziger Y, Carel C, Fennig S, Mimouni M, Klauck SM, Benner A, Poustka A, Apter A, Weizman A | title = Haplotype analysis of the COMT-ARVCF gene region in Israeli anorexia nervosa family trios | journal = Am. J. Med. Genet. B Neuropsychiatr. Genet. | volume = 139 | issue = 1 | pages = 45–50 | year = 2006 | pmid = 16118784 | doi = 10.1002/ajmg.b.30230 }}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | author=Sanders AR, Rusu I, Duan J, ''et al.'' |title=Haplotypic association spanning the 22q11.21 genes COMT and ARVCF with schizophrenia. |journal=Mol. Psychiatry |volume=10 |issue= 4 |pages= 353-65 |year= 2005 |pmid= 15340358 |doi= 10.1038/sj.mp.4001586 }}
*{{cite journal | author=Ballif BA, Villén J, Beausoleil SA, ''et al.'' |title=Phosphoproteomic analysis of the developing mouse brain. |journal=Mol. Cell Proteomics |volume=3 |issue= 11 |pages= 1093-101 |year= 2005 |pmid= 15345747 |doi= 10.1074/mcp.M400085-MCP200 }}
*{{cite journal | author=Kausalya PJ, Phua DC, Hunziker W |title=Association of ARVCF with zonula occludens (ZO)-1 and ZO-2: binding to PDZ-domain proteins and cell-cell adhesion regulate plasma membrane and nuclear localization of ARVCF. |journal=Mol. Biol. Cell |volume=15 |issue= 12 |pages= 5503-15 |year= 2005 |pmid= 15456900 |doi= 10.1091/mbc.E04-04-0350 }}
*{{cite journal  | author=Ulfig N, Chan WY |title=Expression of ARVCF in the human ganglionic eminence during fetal development. |journal=Dev. Neurosci. |volume=26 |issue= 1 |pages= 38-44 |year= 2005 |pmid= 15509897 |doi= 10.1159/000080710 }}
*{{cite journal | author=Michaelovsky E, Frisch A, Leor S, ''et al.'' |title=Haplotype analysis of the COMT-ARVCF gene region in Israeli anorexia nervosa family trios. |journal=Am. J. Med. Genet. B Neuropsychiatr. Genet. |volume=139 |issue= 1 |pages= 45-50 |year= 2006 |pmid= 16118784 |doi= 10.1002/ajmg.b.30230 }}
}}
{{refend}}
{{refend}}


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{{gene-22-stub}}
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Latest revision as of 19:19, 8 November 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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n/a

Ensembl

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n/a

UniProt

n/a

n/a

RefSeq (mRNA)

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RefSeq (protein)

n/a

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Armadillo repeat protein deleted in velo-cardio-facial syndrome is a protein that in humans is encoded by the ARVCF gene.[1][2][3]

Function

Armadillo repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family which play 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. 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. 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.[3]

Interactions

ARVCF has been shown to interact with CDH15.[4]

References

  1. ↑ Sirotkin H, O'Donnell H, DasGupta R, Halford S, St Jore B, Puech A, Parimoo S, Morrow B, Skoultchi A, Weissman SM, Scambler P, Kucherlapati R (May 1997). "Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome". Genomics. 41 (1): 75–83. doi:10.1006/geno.1997.4627. PMID 9126485.
  2. ↑ Kausalya PJ, Phua DC, Hunziker W (November 2004). "Association of ARVCF with Zonula Occludens (ZO)-1 and ZO-2: Binding to PDZ-Domain Proteins and Cell-Cell Adhesion Regulate Plasma Membrane and Nuclear Localization of ARVCF". Mol Biol Cell. 15 (12): 5503–15. doi:10.1091/mbc.E04-04-0350. PMC 532029. PMID 15456900.
  3. ↑ 3.0 3.1 "Entrez Gene: ARVCF armadillo repeat gene deletes in velocardiofacial syndrome".
  4. ↑ Kaufmann U, Zuppinger C, Waibler Z, Rudiger M, Urbich C, Martin B, Jockusch BM, Eppenberger H, Starzinski-Powitz A (November 2000). "The armadillo repeat region targets ARVCF to cadherin-based cellular junctions". J. Cell Sci. 113 (22): 4121–35. PMID 11058098.

External links

Further reading

  • Lindsay EA, Goldberg R, Jurecic V, Morrow B, Carlson C, Kucherlapati RS, Shprintzen RJ, Baldini A (1995). "Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions". Am. J. Med. Genet. 57 (3): 514–22. doi:10.1002/ajmg.1320570339. PMID 7677167.
  • Sirotkin H, Morrow B, Saint-Jore B, Puech A, Das Gupta R, Patanjali SR, Skoultchi A, Weissman SM, Kucherlapati R (1997). "Identification, characterization, and precise mapping of a human gene encoding a novel membrane-spanning protein from the 22q11 region deleted in velo-cardio-facial syndrome". Genomics. 42 (2): 245–51. doi:10.1006/geno.1997.4734. PMID 9192844.
  • Bonné S, van Hengel J, van Roy F (1998). "Chromosomal mapping of human armadillo genes belonging to the p120(ctn)/plakophilin subfamily". Genomics. 51 (3): 452–4. doi:10.1006/geno.1998.5398. PMID 9721216.
  • Mariner DJ, Wang J, Reynolds AB (2000). "ARVCF localizes to the nucleus and adherens junction and is mutually exclusive with p120(ctn) in E-cadherin complexes". J. Cell Sci. 113 (8): 1481–90. PMID 10725230.
  • Kaufmann U, Zuppinger C, Waibler Z, Rudiger M, Urbich C, Martin B, Jockusch BM, Eppenberger H, Starzinski-Powitz A (2001). "The armadillo repeat region targets ARVCF to cadherin-based cellular junctions". J. Cell Sci. 113 (22): 4121–35. PMID 11058098.
  • Laura RP, Witt AS, Held HA, Gerstner R, Deshayes K, Koehler MF, Kosik KS, Sidhu SS, Lasky LA (2002). "The Erbin PDZ domain binds with high affinity and specificity to the carboxyl termini of delta-catenin and ARVCF". J. Biol. Chem. 277 (15): 12906–14. doi:10.1074/jbc.M200818200. PMID 11821434.
  • Sanders AR, Rusu I, Duan J, Vander Molen JE, Hou C, Schwab SG, Wildenauer DB, Martinez M, Gejman PV (2005). "Haplotypic association spanning the 22q11.21 genes COMT and ARVCF with schizophrenia". Mol. Psychiatry. 10 (4): 353–65. doi:10.1038/sj.mp.4001586. PMID 15340358.
  • Ballif BA, Villén J, Beausoleil SA, Schwartz D, Gygi SP (2005). "Phosphoproteomic analysis of the developing mouse brain". Mol. Cell. Proteomics. 3 (11): 1093–101. doi:10.1074/mcp.M400085-MCP200. PMID 15345747.
  • Ulfig N, Chan WY (2005). "Expression of ARVCF in the human ganglionic eminence during fetal development". Dev. Neurosci. 26 (1): 38–44. doi:10.1159/000080710. PMID 15509897.
  • Michaelovsky E, Frisch A, Leor S, Stein D, Danziger Y, Carel C, Fennig S, Mimouni M, Klauck SM, Benner A, Poustka A, Apter A, Weizman A (2006). "Haplotype analysis of the COMT-ARVCF gene region in Israeli anorexia nervosa family trios". Am. J. Med. Genet. B Neuropsychiatr. Genet. 139 (1): 45–50. doi:10.1002/ajmg.b.30230. PMID 16118784.


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