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

Gene ID: 421, updated on 11-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (19965134..20016823, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (20344230..20394441, complement)
105.20220307 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
  • 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

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)

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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.

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_2023_10

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