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

Gene ID: 421, updated on 4-Jan-2025

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
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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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

Related articles in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
New gene functions in megakaryopoiesis and platelet formation.
EBI GWAS Catalog

Pathways from PubChem

Interactions

General gene information

Clone Names

  • FLJ35345

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cadherin binding  
enables cadherin binding PubMed 
enables protein binding PubMed 
Process Evidence Code Pubs
involved_in RNA splicing PubMed 
involved_in cell adhesion PubMed 
involved_in cell-cell adhesion  
involved_in mRNA processing  
Component Evidence Code Pubs
is_active_in adherens junction  
located_in adherens junction PubMed 
is_active_in cytoplasm  
located_in cytoplasm PubMed 
is_active_in nucleus  
located_in nucleus PubMed 
is_active_in plasma membrane  

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
    B9EH95, 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

    UniProtKB/TrEMBL
    B9EH95
  7. XM_047441370.1XP_047297326.1  splicing regulator ARVCF isoform X6

    UniProtKB/TrEMBL
    B9EH95
  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
    B9EH95, E9PDC3
  10. XM_047441368.1XP_047297324.1  splicing regulator ARVCF isoform X5

    UniProtKB/TrEMBL
    B9EH95, 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
    UniProtKB/TrEMBL
    B9EH95
  14. XM_047441375.1XP_047297331.1  splicing regulator ARVCF isoform X13

    UniProtKB/TrEMBL
    B9EH95
  15. XM_047441373.1XP_047297329.1  splicing regulator ARVCF isoform X12

    UniProtKB/TrEMBL
    B9EH95, C9JJX6
    Related
    ENSP00000384732.1, ENST00000406522.5
  16. XM_047441372.1XP_047297328.1  splicing regulator ARVCF isoform X11

    UniProtKB/TrEMBL
    B9EH95
    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

    UniProtKB/TrEMBL
    B9EH95
  2. XM_054325623.1XP_054181598.1  splicing regulator ARVCF isoform X2

    UniProtKB/TrEMBL
    B9EH95
  3. XM_054325622.1XP_054181597.1  splicing regulator ARVCF isoform X1

    UniProtKB/TrEMBL
    B9EH95
  4. XM_054325632.1XP_054181607.1  splicing regulator ARVCF isoform X17

    UniProtKB/TrEMBL
    B9EH95
  5. XM_054325630.1XP_054181605.1  splicing regulator ARVCF isoform X16

    UniProtKB/TrEMBL
    B9EH95
  6. XM_054325635.1XP_054181610.1  splicing regulator ARVCF isoform X10

    UniProtKB/TrEMBL
    B9EH95
  7. XM_054325641.1XP_054181616.1  splicing regulator ARVCF isoform X15

    UniProtKB/TrEMBL
    Q8NAH4
  8. XM_054325629.1XP_054181604.1  splicing regulator ARVCF isoform X6

    UniProtKB/TrEMBL
    B9EH95
  9. XM_054325628.1XP_054181603.1  splicing regulator ARVCF isoform X5

    UniProtKB/TrEMBL
    B9EH95
  10. XM_054325627.1XP_054181602.1  splicing regulator ARVCF isoform X5

    UniProtKB/TrEMBL
    B9EH95
  11. XM_054325626.1XP_054181601.1  splicing regulator ARVCF isoform X4

    UniProtKB/TrEMBL
    B9EH95
  12. XM_054325625.1XP_054181600.1  splicing regulator ARVCF isoform X4

    UniProtKB/TrEMBL
    B9EH95
  13. XM_054325638.1XP_054181613.1  splicing regulator ARVCF isoform X18

    UniProtKB/TrEMBL
    B9EH95
  14. XM_054325637.1XP_054181612.1  splicing regulator ARVCF isoform X12

    UniProtKB/TrEMBL
    B9EH95
  15. XM_054325636.1XP_054181611.1  splicing regulator ARVCF isoform X11

    UniProtKB/TrEMBL
    B9EH95
  16. XM_054325634.1XP_054181609.1  splicing regulator ARVCF isoform X9

    UniProtKB/TrEMBL
    B9EH95
  17. XM_054325633.1XP_054181608.1  splicing regulator ARVCF isoform X8

    UniProtKB/TrEMBL
    B9EH95
  18. XM_054325631.1XP_054181606.1  splicing regulator ARVCF isoform X7

    UniProtKB/TrEMBL
    B9EH95
  19. XM_054325639.1XP_054181614.1  splicing regulator ARVCF isoform X13

    UniProtKB/TrEMBL
    B9EH95
  20. XM_054325640.1XP_054181615.1  splicing regulator ARVCF isoform X14

RNA

  1. XR_008485398.1 RNA Sequence

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