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

Summary

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 RNA splicing and cell-cell adhesion. 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, Nov 2024]
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

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_000082.7 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: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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)

Endonuclease-mediated (2)
Targeted (4) 1 citation
Transposon induced (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:237457

Arvcf (e-PCR), detects polymorphism
- UniSTS:265692

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 cadherin binding	ISS Inferred from Sequence or Structural Similarity 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
involved_in RNA splicing	ISS Inferred from Sequence or Structural Similarity 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
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	ISO Inferred from Sequence Orthology more info
located_in adherens junction	ISS Inferred from Sequence or Structural Similarity 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)

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

Status: VALIDATED

Source sequence(s)

AC084822, AC133487, FO393431
NM_001416569.1 → NP_001403498.1 splicing regulator ARVCF isoform 6

Status: VALIDATED

Source sequence(s)

AC084822, AC133487, FO393431
NM_001416570.1 → NP_001403499.1 splicing regulator ARVCF isoform 7

Status: VALIDATED

Source sequence(s)

AC084822, AC133487, FO393431
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

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

NC_000082.7 Reference GRCm39 C57BL/6J

Range

18166046..18225826

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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