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

    Gene ID: 421, updated on 2-Nov-2024

    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; AllianceGenome:HGNC:728
    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
    NEW
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    Genomic context

    See ARVCF in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (19965134..20016823, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (20344230..20394441, complement)
    RS_2024_09 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 thioredoxin reductase 2 Neighboring gene endogenous retrovirus group K member 24 Gag polyprotein-like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19928490-19929059 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19927919-19928489 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13467 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13468 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13469 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18664 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18665 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19931341-19931910 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19931911-19932479 Neighboring gene Sharpr-MPRA regulatory region 10527 Neighboring gene Sharpr-MPRA regulatory region 2516 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19940787-19941410 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19941411-19942032 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19942297-19942948 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:19943251-19943418 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19949617-19950332 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19950333-19951048 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19951049-19951764 Neighboring gene catechol-O-methyltransferase Neighboring gene microRNA 4761 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19970318-19971255 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19971256-19972192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19973130-19974065 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13470 Neighboring gene uncharacterized LOC124905082 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19998201-19999025 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13471 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13472 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18666 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18667 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20018676-20019372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18669 Neighboring gene transport and golgi organization 2 homolog Neighboring gene ReSE screen-validated silencer GRCh37_chr22:20026069-20026230 Neighboring gene microRNA 185 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20045081-20045581 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20053631-20054131 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18670 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:20070687-20071305 Neighboring gene microRNA 3618 Neighboring gene DGCR8 microprocessor complex subunit

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    Related articles in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ35345

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cadherin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cadherin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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
     
    involved_in 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    splicing regulator ARVCF
    Names
    armadillo repeat gene deleted in velocardiofacial syndrome
    armadillo repeat protein 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.

    Genomic

    1. NG_023326.2 RefSeqGene

      Range
      5000..51927
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001410839.1NP_001397768.1  splicing regulator ARVCF isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC005663
      Consensus CDS
      CCDS93120.1
      UniProtKB/TrEMBL
      C9JJX6
    2. NM_001670.3NP_001661.1  splicing regulator ARVCF isoform 1

      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
      B7WNV2, O00192
      UniProtKB/TrEMBL
      B9EH95
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      19965134..20016823 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530179.4XP_011528481.1  splicing regulator ARVCF isoform X3

      UniProtKB/TrEMBL
      B9EH95
      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_005261242.4XP_005261299.1  splicing regulator ARVCF isoform X2

      UniProtKB/TrEMBL
      B9EH95
      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]
    3. XM_006724243.4XP_006724306.1  splicing regulator ARVCF isoform X1

      UniProtKB/TrEMBL
      B9EH95
      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]
    4. XM_006724246.5XP_006724309.1  splicing regulator ARVCF isoform X10

      UniProtKB/TrEMBL
      B9EH95
      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
    5. XM_011530182.4XP_011528484.1  splicing regulator ARVCF isoform X15

      UniProtKB/TrEMBL
      Q8NAH4
      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]
    6. XM_047441371.1XP_047297327.1  splicing regulator ARVCF isoform X9

    7. XM_047441370.1XP_047297326.1  splicing regulator ARVCF isoform X6

    8. XM_005261244.5XP_005261301.1  splicing regulator ARVCF isoform X8

      UniProtKB/TrEMBL
      B9EH95
      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_047441369.1XP_047297325.1  splicing regulator ARVCF isoform X5

      UniProtKB/TrEMBL
      E9PDC3
    10. XM_047441368.1XP_047297324.1  splicing regulator ARVCF isoform X5

      UniProtKB/TrEMBL
      E9PDC3
      Related
      ENSP00000385444.1, ENST00000406259.1
    11. XM_006724245.4XP_006724308.1  splicing regulator ARVCF isoform X7

      UniProtKB/TrEMBL
      B9EH95
      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]
    12. XM_011530180.2XP_011528482.1  splicing regulator ARVCF isoform X4

      See identical proteins and their annotated locations for XP_011528482.1

      UniProtKB/Swiss-Prot
      B7WNV2, O00192
      UniProtKB/TrEMBL
      B9EH95
      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]
    13. XM_047441367.1XP_047297323.1  splicing regulator ARVCF isoform X4

      UniProtKB/Swiss-Prot
      B7WNV2, O00192
    14. XM_047441375.1XP_047297331.1  splicing regulator ARVCF isoform X13

    15. XM_047441373.1XP_047297329.1  splicing regulator ARVCF isoform X12

      UniProtKB/TrEMBL
      C9JJX6
      Related
      ENSP00000384732.1, ENST00000406522.5
    16. XM_047441372.1XP_047297328.1  splicing regulator ARVCF isoform X11

      Related
      ENSP00000384341.1, ENST00000401994.5
    17. XM_011530181.2XP_011528483.1  splicing regulator ARVCF isoform X14

      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_007067973.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      20344230..20394441 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325624.1XP_054181599.1  splicing regulator ARVCF isoform X3

    2. XM_054325623.1XP_054181598.1  splicing regulator ARVCF isoform X2

    3. XM_054325622.1XP_054181597.1  splicing regulator ARVCF isoform X1

    4. XM_054325632.1XP_054181607.1  splicing regulator ARVCF isoform X17

    5. XM_054325630.1XP_054181605.1  splicing regulator ARVCF isoform X16

    6. XM_054325635.1XP_054181610.1  splicing regulator ARVCF isoform X10

    7. XM_054325641.1XP_054181616.1  splicing regulator ARVCF isoform X15

    8. XM_054325629.1XP_054181604.1  splicing regulator ARVCF isoform X6

    9. XM_054325628.1XP_054181603.1  splicing regulator ARVCF isoform X5

    10. XM_054325627.1XP_054181602.1  splicing regulator ARVCF isoform X5

    11. XM_054325626.1XP_054181601.1  splicing regulator ARVCF isoform X4

    12. XM_054325625.1XP_054181600.1  splicing regulator ARVCF isoform X4

    13. XM_054325638.1XP_054181613.1  splicing regulator ARVCF isoform X18

    14. XM_054325637.1XP_054181612.1  splicing regulator ARVCF isoform X12

    15. XM_054325636.1XP_054181611.1  splicing regulator ARVCF isoform X11

    16. XM_054325634.1XP_054181609.1  splicing regulator ARVCF isoform X9

    17. XM_054325633.1XP_054181608.1  splicing regulator ARVCF isoform X8

    18. XM_054325631.1XP_054181606.1  splicing regulator ARVCF isoform X7

    19. XM_054325639.1XP_054181614.1  splicing regulator ARVCF isoform X13

    20. XM_054325640.1XP_054181615.1  splicing regulator ARVCF isoform X14

    RNA

    1. XR_008485398.1 RNA Sequence