Ccz1 CCZ1 vacuolar protein trafficking and biogenesis associated [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ccz1provided by MGI
Official Full Name: CCZ1 vacuolar protein trafficking and biogenesis associatedprovided by MGI
Primary source: MGI:MGI:2141070
See related: Ensembl:ENSMUSG00000029617 AllianceGenome:MGI:2141070
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 guanyl-nucleotide exchange factor activity. Predicted to be involved in vesicle-mediated transport. Predicted to be located in lysosomal membrane. Predicted to be part of Mon1-Ccz1 complex. Predicted to be active in intracellular membrane-bounded organelle. Is expressed in several structures, including central nervous system; limb mesenchyme; neural retina; skeletal musculature; and tooth. Orthologous to human CCZ1B (CCZ1 homolog B, vacuolar protein trafficking and biogenesis associated) and CCZ1 (CCZ1 homolog, vacuolar protein trafficking and biogenesis associated). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 17.1), CNS E14 (RPKM 15.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 G2; 5 82.85 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (143924727..143951744, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (143987909..144014883, complement)

Chromosome 5 - NC_000071.7 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?

data identify SAND-1 (Mon1) and CCZ-1 (Ccz1) as critical and evolutionarily conserved components regulating the processing of ingested apoptotic cell corpses [ccz1]
Title: Identification of two evolutionarily conserved genes regulating processing of engulfed apoptotic cells.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AU022870 (e-PCR)
- UniSTS:207911

D9Mit34.1 (e-PCR), detects polymorphism
- UniSTS:131903

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables guanyl-nucleotide exchange factor activity	ISO Inferred from Sequence Orthology more info
enables guanyl-nucleotide exchange factor activity	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 vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in vesicle-mediated transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of Mon1-Ccz1 complex	ISO Inferred from Sequence Orthology more info
part_of Mon1-Ccz1 complex	ISS Inferred from Sequence or Structural Similarity more info
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: vacuolar fusion protein CCZ1 homolog

Names: CCZ1 vacuolar protein trafficking and biogenesis associated 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_001418171.1 → NP_001405100.1 vacuolar fusion protein CCZ1 homolog isoform 2

Status: VALIDATED

Source sequence(s)

AC121917
NM_177682.4 → NP_808350.1 vacuolar fusion protein CCZ1 homolog isoform 1

See identical proteins and their annotated locations for NP_808350.1

Status: VALIDATED

Source sequence(s)

AC121917

Consensus CDS

CCDS19846.1

UniProtKB/Swiss-Prot

Q3U891, Q8C1Y8

Related

ENSMUSP00000031621.10, ENSMUST00000031621.11

Conserved Domains (1) summary

pfam08217
Location:25 → 477

DUF1712; Fungal domain of unknown function (DUF1712)

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_000071.7 Reference GRCm39 C57BL/6J

Range

143924727..143951744 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017320876.2 → XP_017176365.1 vacuolar fusion protein CCZ1 homolog isoform X1

Conserved Domains (1) summary

pfam08217
Location:1 → 336

DUF1712; Fungal domain of unknown function (DUF1712)