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

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: mouse all
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Genomic context

Location:: 22q11.21

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (19965134..20016823, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (20347523..20394441, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (19957419..20004346, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

p53-induced ARVCF modulates the splicing landscape and supports the tumor suppressive function of p53.
Title: p53-induced ARVCF modulates the splicing landscape and supports the tumor suppressive function of p53.
observed ARVCF-dependent changes in small GTPase (mainly RhoA) activity in lung cancer cells. We confirmed that ARVCF plays an important role in the malignant phenotype
Title: ARVCF expression is significantly correlated with the malignant phenotype of non-small cell lung cancer.
Carriage of the minor allele at rs2518824 in the armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF) gene was associated with white matter abnormality.
Title: Common genetic variants and risk of brain injury after preterm birth.
Data indicate that armadillo repeat protein ARVCF interacts with the splicing factors the splicing factor SRSF1 (SF2/ASF), the RNA helicase p68 (DDX5), and the heterogeneous nuclear ribonucleoprotein hnRNP H2.
Title: Nuclear ARVCF protein binds splicing factors and contributes to the regulation of alternative splicing.
Schizophrenic patients with more copies of the haplotype T-G-A-T-T-G-G-C-T-G-T (ARVCF-Hap1) have lower white matter integrity in caudate nucleus and greater perseverative errors.
Title: ARVCF genetic influences on neurocognitive and neuroanatomical intermediate phenotypes in Chinese patients with schizophrenia.
Five SNPs were validated as being significantly associated with prostate cancer mortality, one each in the LEPR, CRY1, RNASEL, IL4, and ARVCF genes.
Title: Genetic variants in the LEPR, CRY1, RNASEL, IL4, and ARVCF genes are prognostic markers of prostate cancer-specific mortality.
The functional variant rs165815, which affects a critical region of ARVCF, is a considerable source of the genetic variability associated with the risk of developing schizophrenia.
Title: A functional variant provided further evidence for the association of ARVCF with schizophrenia.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Single nucleotide polymorphisms in the ARVGF gene are associated with the risk of schizophrenia.
Title: ARVCF single marker and haplotypic association with schizophrenia.
Over-expression of TXNRD2, COMT and ARVCF affects incentive learning and working memory in transgenic mice.
Title: Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT and ARVCF developmentally affects incentive learning and working memory in mice.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D22S931 (e-PCR)
- UniSTS:150361

WI-22519 (e-PCR)
- UniSTS:1396

G18186 (e-PCR)
- UniSTS:22460

Homology

Homologs of the ARVCF gene: The ARVCF gene is conserved in chimpanzee, Rhesus monkey, dog, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 468 organisms have orthologs with human gene ARVCF
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cadherin binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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	PubMed
involved_in cell-cell junction assembly	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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	PubMed
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	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
part_of messenger ribonucleoprotein complex	IDA Inferred from Direct Assay more info	PubMed
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
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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

Names: armadillo repeat gene deleted in velocardiofacial 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

NG_023326.2 RefSeqGene

Range

5000..51927

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

AC005663

Consensus CDS

CCDS93120.1

UniProtKB/TrEMBL

C9JJX6
NM_001670.3 → NP_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

Related

ENSP00000263207.3, ENST00000263207.8

Conserved Domains (3) summary

cd00020
Location:355 → 473

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:360 → 462

HEAT_2; HEAT repeats

sd00043
Location:360 → 385

ARM; armadillo repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

19965134..20016823 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011530179.4 → XP_011528481.1 armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X3

Conserved Domains (3) summary

cd00020
Location:355 → 473

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:360 → 462

HEAT_2; HEAT repeats

sd00043
Location:360 → 385

ARM; armadillo repeat [structural motif]
XM_005261242.4 → XP_005261299.1 armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X2

Conserved Domains (3) summary

cd00020
Location:355 → 473

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:360 → 462

HEAT_2; HEAT repeats

sd00043
Location:360 → 385

ARM; armadillo repeat [structural motif]
XM_006724243.4 → XP_006724306.1 armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X1

Conserved Domains (3) summary

cd00020
Location:355 → 473

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:360 → 462

HEAT_2; HEAT repeats

sd00043
Location:360 → 385

ARM; armadillo repeat [structural motif]
XM_006724246.5 → XP_006724309.1 armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X10

Conserved Domains (3) summary

smart00185
Location:350 → 391

ARM; Armadillo/beta-catenin-like repeats

sd00043
Location:278 → 303

ARM; armadillo repeat [structural motif]

cl26104
Location:227 → 405

HEAT_2; HEAT repeats
XM_011530182.4 → XP_011528484.1 armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X15

Conserved Domains (2) summary

cd00020
Location:178 → 278

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:178 → 214

ARM; armadillo repeat [structural motif]
XM_047441371.1 → XP_047297327.1 armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X9
XM_047441370.1 → XP_047297326.1 armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X6
XM_005261244.5 → XP_005261301.1 armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X8

Conserved Domains (3) summary

cd00020
Location:355 → 473

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:360 → 462

HEAT_2; HEAT repeats

sd00043
Location:360 → 385

ARM; armadillo repeat [structural motif]
XM_047441369.1 → XP_047297325.1 armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X5

UniProtKB/TrEMBL

E9PDC3
XM_047441368.1 → XP_047297324.1 armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X5

UniProtKB/TrEMBL

E9PDC3

Related

ENSP00000385444.1, ENST00000406259.1
XM_006724245.4 → XP_006724308.1 armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X7

Conserved Domains (3) summary

cd00020
Location:355 → 473

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:360 → 462

HEAT_2; HEAT repeats

sd00043
Location:360 → 385

ARM; armadillo repeat [structural motif]
XM_011530180.2 → XP_011528482.1 armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X4

See identical proteins and their annotated locations for XP_011528482.1

UniProtKB/Swiss-Prot

B7WNV2, O00192

Conserved Domains (3) summary

cd00020
Location:355 → 473

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:360 → 462

HEAT_2; HEAT repeats

sd00043
Location:360 → 385

ARM; armadillo repeat [structural motif]
XM_047441367.1 → XP_047297323.1 armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X4

UniProtKB/Swiss-Prot

B7WNV2
XM_047441375.1 → XP_047297331.1 armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X13
XM_047441374.1 → XP_047297330.1 armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X12
XM_047441373.1 → XP_047297329.1 armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X12

UniProtKB/TrEMBL

C9JJX6

Related

ENSP00000384732.1, ENST00000406522.5
XM_047441372.1 → XP_047297328.1 armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X11

Related

ENSP00000384341.1, ENST00000401994.5
XM_011530181.2 → XP_011528483.1 armadillo repeat protein deleted in velo-cardio-facial syndrome isoform X14

Conserved Domains (3) summary

cd00020
Location:355 → 473

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:360 → 462

HEAT_2; HEAT repeats

sd00043
Location:360 → 385

ARM; armadillo repeat [structural motif]