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

Gene ID: 11877, updated on 11-Apr-2024

Summary

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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
human all
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Genomic context

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See Arvcf in Genome Data Viewer
Location:
16 A3; 16 11.37 cM
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2024_02 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 STARR-positive B cell enhancer ABC_E1921 Neighboring gene microRNA 3618 Neighboring gene transport and golgi organization 2 Neighboring gene STARR-positive B cell enhancer ABC_E10891 Neighboring gene microRNA 185 Neighboring gene STARR-seq mESC enhancer starr_40280 Neighboring gene predicted gene 15764 Neighboring gene catechol-O-methyltransferase Neighboring gene thioredoxin reductase 2 Neighboring gene CapStarr-seq enhancer MGSCv37_chr16:18460133-18460376

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

Bibliography

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Related articles in PubMed

  1. Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome. Sirotkin H, et al. Genomics, 1997 Apr 1. PMID 9126485
  2. Differential expression pattern of protein ARVCF in nephron segments of human and mouse kidney. Walter B, et al. Histochem Cell Biol, 2008 Nov. PMID 18600340
  3. mARVCF cellular localisation and binding to cadherins is influenced by the cellular context but not by alternative splicing. Waibler Z, et al. J Cell Sci, 2001 Nov. PMID 11719554
  4. Characterization of Sleeping Beauty transposition and its application to genetic screening in mice. Horie K, et al. Mol Cell Biol, 2003 Dec. PMID 14645530, Free PMC Article
  5. Arvcf Dependent Adherens Junction Stability is Required to Prevent Age-Related Cortical Cataracts. Martin JB, et al. Front Cell Dev Biol, 2022. PMID 35874813, Free PMC Article

See all (45) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Differential expression pattern of protein ARVCF in nephron segments of mouse kidney.
    Title: Differential expression pattern of protein ARVCF in nephron segments of human and mouse kidney.
Submit: New GeneRIF Correction

Variation

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Alleles

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables cadherin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
acts_upstream_of_or_within mRNA processing 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
  
located_in adherens junction ISO
Inferred from Sequence Orthology
more info
  
located_in anchoring junction IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_001272028.1 → NP_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, Q6PGJ6, Q8BQ36, Q8BRF2, Q8C3U7, Q924L2, Q924L3, Q924L4, Q924L5
    Related
    ENSMUSP00000159427.2, ENSMUST00000239535.1
    Conserved Domains (3) summary
    cd00020
    Location:357 → 475
    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:362 → 464
    HEAT_2; HEAT repeats
    sd00043
    Location:362 → 387
    ARM; armadillo repeat [structural motif]

  2. NM_001272029.1 → NP_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:357 → 475
    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:362 → 464
    HEAT_2; HEAT repeats
    sd00043
    Location:362 → 387
    ARM; armadillo repeat [structural motif]

  3. NM_001272030.1 → NP_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:357 → 475
    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:362 → 464
    HEAT_2; HEAT repeats
    sd00043
    Location:362 → 387
    ARM; armadillo repeat [structural motif]

  4. NM_001272031.2 → NP_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)
    AC084822, AC133487, FO393431
    Consensus CDS
    CCDS88894.1
    UniProtKB/Swiss-Prot
    P98203
    Related
    ENSMUSP00000159438.2, ENSMUST00000239548.1
    Conserved Domains (3) summary
    cd00020
    Location:293 → 411
    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:298 → 400
    HEAT_2; HEAT repeats
    sd00043
    Location:298 → 323
    ARM; armadillo repeat [structural motif]

  5. NM_001272032.2 → NP_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)
    AC084822, AC133487, FO393431
    Consensus CDS
    CCDS70694.1
    UniProtKB/Swiss-Prot
    P98203
    Related
    ENSMUSP00000159437.2, ENSMUST00000239547.1
    Conserved Domains (3) summary
    cd00020
    Location:293 → 411
    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:298 → 400
    HEAT_2; HEAT repeats
    sd00043
    Location:298 → 323
    ARM; armadillo repeat [structural motif]

  6. NM_001416568.1 → NP_001403497.1  splicing regulator ARVCF isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC084822, AC133487, FO393431

  7. NM_001416569.1 → NP_001403498.1  splicing regulator ARVCF isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC084822, AC133487, FO393431

  8. NM_001416570.1 → NP_001403499.1  splicing regulator ARVCF isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC084822, AC133487, FO393431

  9. NM_033474.3 → NP_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, Q6PGJ6, Q8BQ36, Q8BRF2, Q8C3U7, Q924L2, Q924L3, Q924L4, Q924L5
    Related
    ENSMUSP00000159426.2, ENSMUST00000239534.1
    Conserved Domains (3) summary
    cd00020
    Location:357 → 475
    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:362 → 464
    HEAT_2; HEAT repeats
    sd00043
    Location:362 → 387
    ARM; armadillo repeat [structural motif]

RNA

  1. NR_184336.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC084822, AC133487, FO393431

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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_036159752.1 → XP_036015645.1  splicing regulator ARVCF isoform X3

    Conserved Domains (3) summary
    smart00185
    Location:351 → 392
    ARM; Armadillo/beta-catenin-like repeats
    sd00043
    Location:279 → 304
    ARM; armadillo repeat [structural motif]
    pfam00514
    Location:574 → 610
    Arm; Armadillo/beta-catenin-like repeat

  2. XM_036159750.1 → XP_036015643.1  splicing regulator ARVCF isoform X1

    Conserved Domains (3) summary
    smart00185
    Location:434 → 475
    ARM; Armadillo/beta-catenin-like repeats
    sd00043
    Location:362 → 387
    ARM; armadillo repeat [structural motif]
    pfam00514
    Location:657 → 693
    Arm; Armadillo/beta-catenin-like repeat

  3. XM_036159751.1 → XP_036015644.1  splicing regulator ARVCF isoform X2

    Conserved Domains (3) summary
    smart00185
    Location:434 → 475
    ARM; Armadillo/beta-catenin-like repeats
    sd00043
    Location:362 → 387
    ARM; armadillo repeat [structural motif]
    pfam00514
    Location:651 → 687
    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

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P98203.2 GenPept UniProtKB/Swiss-Prot:P98203

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