zgc:100846 zgc:100846 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: zgc:100846provided by ZNC
Official Full Name: zgc:100846provided by ZNC
Primary source: ZFIN:ZDB-GENE-040801-47
See related: Ensembl:ENSDARG00000011837 AllianceGenome:ZFIN:ZDB-GENE-040801-47
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: C9orf72; c13h9orf72
Summary: Predicted to enable guanyl-nucleotide exchange factor activity. Acts upstream of or within several processes, including swimming; swimming behavior; and thigmotaxis. Predicted to be active in autophagosome and endosome. Is expressed in several structures, including central nervous system; heart; integument; liver; and pleuroperitoneal region. Used to study amyotrophic lateral sclerosis. Human ortholog(s) of this gene implicated in frontotemporal dementia and/or amyotrophic lateral sclerosis 1. Orthologous to human C9orf72 (C9orf72-SMCR8 complex subunit). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 13

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	13	NC_007124.7 (12761770..12778286)
105	previous assembly	GRCz10 (GCF_000002035.5)	13	NC_007124.6 (12629295..12645811)

Chromosome 13 - NC_007124.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

C9ORF72 Deficiency Results in Neurodegeneration in the Zebrafish Retina.
Title: C9ORF72 Deficiency Results in Neurodegeneration in the Zebrafish Retina.
This was validated by the reduction in motor neuron length even in already formed motor neurons when GR was expressed in these. Hence, the expression of C9orf72-associated dipeptide repeats can cause significant motor deficits in vertebrates
Title: Expression of C9orf72-related dipeptides impairs motor function in a vertebrate model.
we revealed a novel regulatory mechanism underlying the role of C9orf72 in neurological and motility defects and demonstrated that Cyclin G1 is an essential downstream mediator for C9orf72 in neural development and motility
Title: C9orf72 is essential for neurodevelopment and motility mediated by Cyclin G1.
C9orf72 plays an important role in the autophagy pathway while genetically interacting with another major genetic risk factor, ATXN2, to contribute to ALS-FTD pathogenesis
Title: The most prevalent genetic cause of ALS-FTD, C9orf72 synergizes the toxicity of ATXN2 intermediate polyglutamine repeats through the autophagy pathway.

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General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables guanyl-nucleotide exchange factor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in autophagy	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within axon development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within axonogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within central nervous system projection neuron axonogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within swimming	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within swimming behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within thigmotaxis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in autophagosome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in endosome	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: guanine nucleotide exchange factor C9orf72 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.