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    ARVCF ARVCF delta catenin family member [ Homo sapiens (human) ]

    Gene ID: 421, updated on 8-Jul-2021

    Summary

    Official Symbol
    ARVCFprovided by HGNC
    Official Full Name
    ARVCF delta catenin family memberprovided by HGNC
    Primary source
    HGNC:HGNC:728
    See related
    Ensembl:ENSG00000099889 MIM:602269
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    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]
    Expression
    Broad expression in spleen (RPKM 5.1), thyroid (RPKM 3.0) and 25 other tissues See more
    Orthologs
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    Genomic context

    See ARVCF in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (19966727..20016823, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19957419..20004346, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 2516 Neighboring gene catechol-O-methyltransferase Neighboring gene microRNA 4761 Neighboring gene transport and golgi organization 2 homolog Neighboring gene microRNA 185 Neighboring gene DGCR8 microprocessor complex subunit Neighboring gene microRNA 3618

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    New gene functions in megakaryopoiesis and platelet formation.
    GeneReviews: Not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ35345

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cadherin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cell-cell junction assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in multicellular organism development TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in intracellular anatomical structure TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    armadillo repeat protein deleted in velo-cardio-facial syndrome
    Names
    armadillo repeat gene deleted in velocardiofacial syndrome

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023326.1 RefSeqGene

      Range
      4964..51891
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001670.3NP_001661.1  armadillo repeat protein deleted in velo-cardio-facial syndrome

      See identical proteins and their annotated locations for NP_001661.1

      Status: REVIEWED

      Source sequence(s)
      AC005663, U51269
      Consensus CDS
      CCDS13771.1
      UniProtKB/Swiss-Prot
      O00192
      Related
      ENSP00000263207.3, ENST00000263207.8
      Conserved Domains (3) summary
      cd00020
      Location:355473
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      pfam13646
      Location:360462
      HEAT_2; HEAT repeats
      sd00043
      Location:360385
      ARM; armadillo repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

      Range
      19966727..20016823 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006724243.3XP_006724306.1  armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X1

      Conserved Domains (3) summary
      cd00020
      Location:355473
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      pfam13646
      Location:360462
      HEAT_2; HEAT repeats
      sd00043
      Location:360385
      ARM; armadillo repeat [structural motif]
    2. XM_024452249.1XP_024308017.1  armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X8

      Conserved Domains (3) summary
      smart00185
      Location:350391
      ARM; Armadillo/beta-catenin-like repeats
      sd00043
      Location:278303
      ARM; armadillo repeat [structural motif]
      cl26104
      Location:227405
      HEAT_2; HEAT repeats
    3. XM_006724246.4XP_006724309.1  armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X8

      Conserved Domains (3) summary
      smart00185
      Location:350391
      ARM; Armadillo/beta-catenin-like repeats
      sd00043
      Location:278303
      ARM; armadillo repeat [structural motif]
      cl26104
      Location:227405
      HEAT_2; HEAT repeats
    4. XM_011530182.3XP_011528484.1  armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X14

      Conserved Domains (2) summary
      cd00020
      Location:178278
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      sd00043
      Location:178214
      ARM; armadillo repeat [structural motif]
    5. XM_011530179.3XP_011528481.1  armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X3

      Conserved Domains (3) summary
      cd00020
      Location:355473
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      pfam13646
      Location:360462
      HEAT_2; HEAT repeats
      sd00043
      Location:360385
      ARM; armadillo repeat [structural motif]
    6. XM_005261242.3XP_005261299.1  armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X2

      Conserved Domains (3) summary
      cd00020
      Location:355473
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      pfam13646
      Location:360462
      HEAT_2; HEAT repeats
      sd00043
      Location:360385
      ARM; armadillo repeat [structural motif]
    7. XM_005261244.4XP_005261301.1  armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X7

      Conserved Domains (3) summary
      cd00020
      Location:355473
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      pfam13646
      Location:360462
      HEAT_2; HEAT repeats
      sd00043
      Location:360385
      ARM; armadillo repeat [structural motif]
    8. XM_005261243.4XP_005261300.1  armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X5

      UniProtKB/TrEMBL
      E9PDC3
      Related
      ENSP00000385444.1, ENST00000406259.1
      Conserved Domains (3) summary
      cd00020
      Location:355473
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      pfam13646
      Location:360462
      HEAT_2; HEAT repeats
      sd00043
      Location:360385
      ARM; armadillo repeat [structural motif]
    9. XM_006724245.3XP_006724308.1  armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X6

      Conserved Domains (3) summary
      cd00020
      Location:355473
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      pfam13646
      Location:360462
      HEAT_2; HEAT repeats
      sd00043
      Location:360385
      ARM; armadillo repeat [structural motif]
    10. XM_006724247.4XP_006724310.1  armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X9

      UniProtKB/Swiss-Prot
      O00192
      Related
      ENSP00000384341.1, ENST00000401994.5
      Conserved Domains (3) summary
      cd00020
      Location:292410
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      pfam13646
      Location:297399
      HEAT_2; HEAT repeats
      sd00043
      Location:297322
      ARM; armadillo repeat [structural motif]
    11. XM_006724248.4XP_006724311.1  armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X10

      UniProtKB/TrEMBL
      C9JJX6
      Related
      ENSP00000384732.1, ENST00000406522.5
      Conserved Domains (3) summary
      cd00020
      Location:292410
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      pfam13646
      Location:297399
      HEAT_2; HEAT repeats
      sd00043
      Location:297322
      ARM; armadillo repeat [structural motif]
    12. XM_011530183.3XP_011528485.1  armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X15

      Related
      ENST00000495096.5
      Conserved Domains (2) summary
      cd00020
      Location:172272
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      sd00043
      Location:172208
      ARM; armadillo repeat [structural motif]
    13. XM_011530180.1XP_011528482.1  armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X4

      See identical proteins and their annotated locations for XP_011528482.1

      UniProtKB/Swiss-Prot
      O00192
      Conserved Domains (3) summary
      cd00020
      Location:355473
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      pfam13646
      Location:360462
      HEAT_2; HEAT repeats
      sd00043
      Location:360385
      ARM; armadillo repeat [structural motif]
    14. XM_006724249.3XP_006724312.1  armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X11

      Conserved Domains (3) summary
      cd00020
      Location:355473
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      pfam13646
      Location:360462
      HEAT_2; HEAT repeats
      sd00043
      Location:360385
      ARM; armadillo repeat [structural motif]
    15. XM_006724250.3XP_006724313.1  armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X12

      Conserved Domains (3) summary
      cd00020
      Location:355473
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      pfam13646
      Location:360462
      HEAT_2; HEAT repeats
      sd00043
      Location:360385
      ARM; armadillo repeat [structural motif]
    16. XM_011530181.1XP_011528483.1  armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X13

      Conserved Domains (3) summary
      cd00020
      Location:355473
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      pfam13646
      Location:360462
      HEAT_2; HEAT repeats
      sd00043
      Location:360385
      ARM; armadillo repeat [structural motif]

    RNA

    1. XR_937863.2 RNA Sequence

    2. XR_937864.1 RNA Sequence

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