Vps35l VPS35 endosomal protein sorting factor like [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Vps35lprovided by MGI
Official Full Name: VPS35 endosomal protein sorting factor likeprovided by MGI
Primary source: MGI:MGI:1918767
See related: Ensembl:ENSMUSG00000030982 AllianceGenome:MGI:1918767
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: Vsp35l; 2610029J22Rik; 9030624J02Rik
Summary: Predicted to be involved in Golgi to plasma membrane transport and endocytic recycling. Predicted to act upstream of or within protein transport. Predicted to be located in membrane. Predicted to be integral component of membrane. Predicted to be active in endosome. Human ortholog(s) of this gene implicated in Ritscher-Schinzel syndrome. Orthologous to human VPS35L (VPS35 endosomal protein sorting factor like). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in CNS E18 (RPKM 16.3), placenta adult (RPKM 15.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7; 7 F2

Exon count:: 31

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (118339401..118440714)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (118740178..118841491)

Chromosome 7 - NC_000073.7 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?

Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex.
Title: Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW742741 (e-PCR)
- UniSTS:208195

D11S3665 (e-PCR)
- UniSTS:152899

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

Homology

Orthologs from Annotation Pipeline: 491 organisms have orthologs with human gene Vps35l
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in Golgi to plasma membrane transport	ISO Inferred from Sequence Orthology more info
involved_in endocytic recycling	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in endocytic recycling	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in endosome	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in endosome	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: VPS35 endosomal protein-sorting factor-like; VPS35 endosomal protein sorting factor-like

Names: UPF0505 protein C16orf62 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.