Vangl1 VANGL planar cell polarity 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Vangl1provided by MGI
Official Full Name: VANGL planar cell polarity 1provided by MGI
Primary source: MGI:MGI:2159344
See related: Ensembl:ENSMUSG00000027860 AllianceGenome:MGI:2159344
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
Also known as: Lpp2; Stb2; Stbm; Kitenin
Summary: Acts upstream of or within pigmentation. Located in lateral plasma membrane. Is expressed in several structures, including central nervous system; cochlea; future brain; notochord; and skin. Used to study neural tube defect. Human ortholog(s) of this gene implicated in caudal regression syndrome and neural tube defect. Orthologous to human VANGL1 (VANGL planar cell polarity protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in liver E14.5 (RPKM 5.6), liver E14 (RPKM 5.3) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 F2.2; 3 44.3 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (102060899..102112012, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (102153583..102204744, complement)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

A peptide interfering with the dimerization of oncogenic KITENIN protein and its stability suppresses colorectal tumour progression.
Title: A peptide interfering with the dimerization of oncogenic KITENIN protein and its stability suppresses colorectal tumour progression.
Deletions in VANGL1 are a risk factor for antibody-mediated kidney disease.
Title: Deletions in VANGL1 are a risk factor for antibody-mediated kidney disease.
High KITENIN expression is associated with cholangiocarcinoma.
Title: Silencing of Kangai 1 C-terminal interacting tetraspanin suppresses progression of cholangiocarcinoma.
In Pax2-Cre; V1V2 Conditional knockout mice, the loss of both VANGL proteins significantly disrupts planar polarity throughout the utricular maculae
Title: Domineering non-autonomy in Vangl1;Vangl2 double mutants demonstrates intercellular PCP signaling in the vertebrate inner ear.
Exogenously introduced expression of green fluorescent protein (GFP)-tagged core PCP factors by electroporation revealed that Vangl1, Vangl2 and Prickle2 are localized on the ovarian side of the cell periphery in the oviduct.Our data collectively suggest that the mechanism for maintenance of Vangl2 asymmetry in mature mouse oviduct is different from the microtubule dependent polarized transport model
Title: Dynamics of planar cell polarity protein Vangl2 in the mouse oviduct epithelium.
Elevated coexpression of KITENIN and ErbB4-CYT-2 promotes the transition of colon adenoma to adenocarcinoma within an APC loss-associated tumor microenvironment
Title: Elevated Coexpression of KITENIN and the ErbB4 CYT-2 Isoform Promotes the Transition from Colon Adenoma to Carcinoma Following APC loss.
Findings identify that KITENIN-targeting miR-124, miR-27a, and miR-30b function as endogenous inhibitors of colorectal cancer cell motility and demonstrate that miR-124 plays a suppressor role in colorectal tumorigenesis.
Title: KITENIN-targeting microRNA-124 suppresses colorectal cancer cell motility and tumorigenesis.
Vangl1 and Vangl2 may play a key role in the embryo implantation of mice
Title: The homologous genes Vangl1 and Vangl2 are required for embryo implantation in the uterus of mice during early pregnancy.
Vangl does not have a critical role in neural crest migration through planar cell polarity signaling
Title: Vangl-dependent planar cell polarity signalling is not required for neural crest migration in mammals.
Celsr2-3 and Fzd3 regulate axonal navigation in the forebrain by using mechanisms different from classical epithelial core planar cell polarity, and require interacting partners other than Vangl1-2 that remain to be identified.
Title: Genetic evidence that Celsr3 and Celsr2, together with Fzd3, regulate forebrain wiring in a Vangl-independent manner.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (2) 1 citation
Targeted (4) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

UniSTS:234786 (e-PCR)
- UniSTS:234786

Vangl1 (e-PCR), detects polymorphism
- UniSTS:532467

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in multicellular organism development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in lateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: vang-like protein 1

Names: KAI1 COOH-terminal interacting tetraspanin; loop-tail protein 2; strabismus; van Gogh-like protein 1; vang, van gogh-like 1; vang-like 1 (van gogh, Drosophila)

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_177545.5 → NP_808213.2 vang-like protein 1

See identical proteins and their annotated locations for NP_808213.2

Status: VALIDATED

Source sequence(s)

AC159255, AF481860, BY729182

Consensus CDS

CCDS17686.1

UniProtKB/Swiss-Prot

B2RRP5, Q80Z96, Q8QZT3

UniProtKB/TrEMBL

Q3UXU7

Related

ENSMUSP00000029453.8, ENSMUST00000029453.13

Conserved Domains (1) summary

pfam06638
Location:26 → 526

Strabismus; Strabismus protein

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_000069.7 Reference GRCm39 C57BL/6J

Range

102060899..102112012 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006501395.5 → XP_006501458.1 vang-like protein 1 isoform X1

UniProtKB/TrEMBL

Q3UXU7

Conserved Domains (1) summary

pfam06638
Location:25 → 539

Strabismus; Strabismus protein

RNA

XR_004941312.1 RNA Sequence
XR_004941311.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001165951.2: Suppressed sequence

Description

NM_001165951.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.