Vps13b vacuolar protein sorting 13B [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Vps13bprovided by MGI
Official Full Name: vacuolar protein sorting 13Bprovided by MGI
Primary source: MGI:MGI:1916380
See related: Ensembl:ENSMUSG00000037646 AllianceGenome:MGI:1916380
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: Coh1; 4732488H20; D230005K13; 1810042B05Rik; 2310042E16Rik; C330002D13Rik
Summary: Enables phosphatidylinositol-3-phosphate binding activity. Involved in acrosome assembly; central nervous system development; and maintenance of lens transparency. Acts upstream of or within several processes, including dentate gyrus development; head morphogenesis; and social behavior. Located in acrosomal membrane. Used to study Cohen syndrome and cataract. Human ortholog(s) of this gene implicated in Cohen syndrome. Orthologous to human VPS13B (vacuolar protein sorting 13 homolog B). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in subcutaneous fat pad adult (RPKM 3.3), testis adult (RPKM 2.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 B3.1; 15 14.46 cM

Exon count:: 62

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (35371264..35931375)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (35371118..35931229)

Chromosome 15 - NC_000081.7 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 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?

Analysis of mouse tissues revealed ubiquitous expression of Coh1 homologous to human NM_152564 in all examined tissues but no prevalent alternative splicing.
Title: Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (3) 1 citation
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

44.MHAa63d8.seq (e-PCR)
- UniSTS:124522

C87206 (e-PCR)
- UniSTS:209082

D15Mit56 (e-PCR), detects polymorphism
- UniSTS:127675

C87206 (e-PCR)
- UniSTS:160445

fc31g12.x1 (e-PCR)
- UniSTS:193523

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info
enables phosphatidylinositol-3-phosphate binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in Golgi organization	ISO Inferred from Sequence Orthology more info
involved_in Golgi organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in Golgi reassembly	ISO Inferred from Sequence Orthology more info
involved_in Golgi reassembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in acrosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in adipose tissue development	ISO Inferred from Sequence Orthology more info
involved_in adipose tissue development	ISS Inferred from Sequence or Structural Similarity more info
involved_in biological_process	ND No biological Data available more info
acts_upstream_of_or_within brain development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in central nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dentate gyrus development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within head morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid transport	IEA Inferred from Electronic Annotation more info
involved_in maintenance of lens transparency	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within memory	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within muscle organ development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nervous system development	ISO Inferred from Sequence Orthology more info
involved_in nervous system development	ISS Inferred from Sequence or Structural Similarity more info
involved_in slow endocytic recycling	ISO Inferred from Sequence Orthology more info
involved_in slow endocytic recycling	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within social behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vesicle-mediated transport	ISO Inferred from Sequence Orthology more info
involved_in vesicle-mediated transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in Golgi membrane	ISO Inferred from Sequence Orthology more info
located_in acrosomal membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in cellular_component	ND No biological Data available more info
located_in cis-Golgi network membrane	ISO Inferred from Sequence Orthology more info
located_in cis-Golgi network membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in early endosome membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum-Golgi intermediate compartment membrane	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum-Golgi intermediate compartment membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in lysosomal membrane	IEA Inferred from Electronic Annotation more info
located_in recycling endosome membrane	IEA Inferred from Electronic Annotation more info
located_in trans-Golgi network membrane	ISO Inferred from Sequence Orthology more info
located_in trans-Golgi network membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: intermembrane lipid transfer protein VPS13B

Names: cohen syndrome protein 1 homolog; vacuolar protein sorting-associated protein 13B

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_177151.4 → NP_796125.2 intermembrane lipid transfer protein VPS13B

Status: VALIDATED

Source sequence(s)

AC121598, AC122241, AC144772, AC157521, AC166356

Consensus CDS

CCDS49592.1

UniProtKB/Swiss-Prot

E9QKX5, Q80TY5

Related

ENSMUSP00000045490.8, ENSMUST00000048646.9

Conserved Domains (4) summary

pfam06650
Location:2605 → 2685

SHR-BD; SHR-binding domain of vacuolar-sorting associated protein 13

pfam09333
Location:3705 → 3809

ATG_C; Autophagy-related protein C terminal domain

pfam12624
Location:3 → 102

Chorein_N; N-terminal region of Chorein or VPS13

pfam16909
Location:3557 → 3703

VPS13_C; Vacuolar-sorting-associated 13 protein C-terminal