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    Arvcf armadillo repeat gene deleted in velocardiofacial syndrome [ Mus musculus (house mouse) ]

    Gene ID: 11877, updated on 26-Sep-2022

    Summary

    Official Symbol
    Arvcfprovided by MGI
    Official Full Name
    armadillo repeat gene deleted in velocardiofacial syndromeprovided by MGI
    Primary source
    MGI:MGI:109620
    See related
    Ensembl:ENSMUSG00000118669 AllianceGenome:MGI:109620
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    Predicted to enable cadherin binding activity. Predicted to be involved in cell-cell adhesion and cell-cell junction assembly. Predicted to act upstream of or within calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules. Located in cytoplasm; nucleus; and plasma membrane. Is expressed in several structures, including cardiovascular system; central nervous system; forelimb bud; metanephros; and sensory organ. Human ortholog(s) of this gene implicated in DiGeorge syndrome. Orthologous to human ARVCF (ARVCF delta catenin family member). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in whole brain E14.5 (RPKM 26.2), CNS E14 (RPKM 23.5) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Arvcf in Genome Data Viewer
    Location:
    16 A3; 16 11.37 cM
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (18166046..18225826)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (18348182..18407076)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene DGCR8, microprocessor complex subunit Neighboring gene microRNA 3618 Neighboring gene transport and golgi organization 2 Neighboring gene microRNA 185 Neighboring gene predicted gene 15764 Neighboring gene catechol-O-methyltransferase Neighboring gene thioredoxin reductase 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Transposon induced (1) 
    • Targeted (4)  1 citation
    • Endonuclease-mediated (2) 

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables cadherin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables cadherin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules TAS
    Traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_or_within cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    acts_upstream_of_or_within mRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in adherens junction ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    part_of messenger ribonucleoprotein complex ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    splicing regulator ARVCF; armadillo repeat protein deleted in velo-cardio-facial syndrome homolog
    Names
    armadillo repeat gene deleted in velo-cardio-facial 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.

    mRNA and Protein(s)

    1. NM_001272028.1NP_001258957.1  splicing regulator ARVCF isoform 1

      See identical proteins and their annotated locations for NP_001258957.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AF286212, BC056980
      Consensus CDS
      CCDS28020.1
      UniProtKB/Swiss-Prot
      P98203, Q924L5
      Related
      ENSMUSP00000159427.2, ENSMUST00000239535.1
      Conserved Domains (3) summary
      cd00020
      Location:357475
      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:362464
      HEAT_2; HEAT repeats
      sd00043
      Location:362387
      ARM; armadillo repeat [structural motif]
    2. NM_001272029.1NP_001258958.1  splicing regulator ARVCF isoform 2

      See identical proteins and their annotated locations for NP_001258958.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon in the coding region but maintains reading frame, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1. Both variants 3 and 4 encode the same isoform.
      Source sequence(s)
      BC052393, BY273838
      Consensus CDS
      CCDS70693.1
      UniProtKB/Swiss-Prot
      P98203
      Related
      ENSMUSP00000159425.2, ENSMUST00000239533.1
      Conserved Domains (3) summary
      cd00020
      Location:357475
      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:362464
      HEAT_2; HEAT repeats
      sd00043
      Location:362387
      ARM; armadillo repeat [structural motif]
    3. NM_001272030.1NP_001258959.1  splicing regulator ARVCF isoform 2

      See identical proteins and their annotated locations for NP_001258959.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1. Both variants 3 and 4 encode the same isoform.
      Source sequence(s)
      AF286213, BC052393
      Consensus CDS
      CCDS70693.1
      UniProtKB/Swiss-Prot
      P98203
      Related
      ENSMUSP00000159428.2, ENSMUST00000239536.1
      Conserved Domains (3) summary
      cd00020
      Location:357475
      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:362464
      HEAT_2; HEAT repeats
      sd00043
      Location:362387
      ARM; armadillo repeat [structural motif]
    4. NM_001272031.1NP_001258960.1  splicing regulator ARVCF isoform 3

      See identical proteins and their annotated locations for NP_001258960.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter, compared to isoform 1.
      Source sequence(s)
      AF286214, AK053865, BC056980, BY022048
      Consensus CDS
      CCDS88894.1
      UniProtKB/Swiss-Prot
      P98203
      Related
      ENSMUSP00000159438.2, ENSMUST00000239548.1
      Conserved Domains (3) summary
      cd00020
      Location:293411
      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:298400
      HEAT_2; HEAT repeats
      sd00043
      Location:298323
      ARM; armadillo repeat [structural motif]
    5. NM_001272032.1NP_001258961.1  splicing regulator ARVCF isoform 4

      See identical proteins and their annotated locations for NP_001258961.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, has multiple coding region differences, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) has a distinct N-terminus and is shorter, compared to isoform 1.
      Source sequence(s)
      AK044982, AK053865, BC056980, BY022048
      Consensus CDS
      CCDS70694.1
      UniProtKB/Swiss-Prot
      P98203
      Related
      ENSMUSP00000159437.2, ENSMUST00000239547.1
      Conserved Domains (3) summary
      cd00020
      Location:293411
      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:298400
      HEAT_2; HEAT repeats
      sd00043
      Location:298323
      ARM; armadillo repeat [structural motif]
    6. NM_033474.3NP_258435.2  splicing regulator ARVCF isoform 1

      See identical proteins and their annotated locations for NP_258435.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Both variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AK084886, BC056980, BY273838
      Consensus CDS
      CCDS28020.1
      UniProtKB/Swiss-Prot
      P98203, Q924L5
      Related
      ENSMUSP00000159426.2, ENSMUST00000239534.1
      Conserved Domains (3) summary
      cd00020
      Location:357475
      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:362464
      HEAT_2; HEAT repeats
      sd00043
      Location:362387
      ARM; armadillo repeat [structural motif]

    RefSeqs of Annotated Genomes: Mus musculus 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 GRCm39 C57BL/6J

    Genomic

    1. NC_000082.7 Reference GRCm39 C57BL/6J

      Range
      18166046..18225826
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036159752.1XP_036015645.1  armadillo repeat protein deleted in velo-cardio-facial syndrome homolog isoform X3

      Conserved Domains (3) summary
      smart00185
      Location:351392
      ARM; Armadillo/beta-catenin-like repeats
      sd00043
      Location:279304
      ARM; armadillo repeat [structural motif]
      pfam00514
      Location:574610
      Arm; Armadillo/beta-catenin-like repeat
    2. XM_036159750.1XP_036015643.1  armadillo repeat protein deleted in velo-cardio-facial syndrome homolog isoform X1

      Conserved Domains (3) summary
      smart00185
      Location:434475
      ARM; Armadillo/beta-catenin-like repeats
      sd00043
      Location:362387
      ARM; armadillo repeat [structural motif]
      pfam00514
      Location:657693
      Arm; Armadillo/beta-catenin-like repeat
    3. XM_036159751.1XP_036015644.1  armadillo repeat protein deleted in velo-cardio-facial syndrome homolog isoform X2

      Conserved Domains (3) summary
      smart00185
      Location:434475
      ARM; Armadillo/beta-catenin-like repeats
      sd00043
      Location:362387
      ARM; armadillo repeat [structural motif]
      pfam00514
      Location:651687
      Arm; Armadillo/beta-catenin-like repeat

    RNA

    1. XR_004939146.1 RNA Sequence

    2. XR_004939147.1 RNA Sequence

    3. XR_004939148.1 RNA Sequence

    4. XR_004939149.1 RNA Sequence