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

Gene ID: 421, updated on 4-Nov-2018

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; Vega:OTTHUMG00000030426
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

Genomic context

See ARVCF in Genome Data Viewer
Location:
22q11.21
Exon count:
27
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (19966727..20016802, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19954126..20004325, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene thioredoxin reductase 2 Neighboring gene ribosomal protein L8 pseudogene 5 Neighboring gene catechol-O-methyltransferase Neighboring gene microRNA 4761 Neighboring gene transport and golgi organization 2 homolog Neighboring gene microRNA 185 Neighboring gene microRNA 3618 Neighboring gene DGCR8, microprocessor complex subunit

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

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
    5001..51908
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001670.2NP_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)
    BM716184, U51269
    Consensus CDS
    CCDS13771.1
    UniProtKB/Swiss-Prot
    O00192
    Related
    ENSP00000263207.3, OTTHUMP00000028704, ENST00000263207.7, OTTHUMT00000075314
    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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

    Range
    19966727..20016802 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, OTTHUMP00000198348, 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, OTTHUMP00000198346, 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, OTTHUMP00000198347, 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

    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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