alfa-1 ALS/FTD Associated gene homolog [Caenorhabditis elegans] - Gene

Summary

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Official Symbol: alfa-1
Official Full Name: ALS/FTD Associated gene homolog
Primary source: WormBase:WBGene00017547
Locus tag: CELE_F18A1.6
See related: AllianceGenome:WB:WBGene00017547
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Caenorhabditis elegans (strain: Bristol N2)
Lineage: Eukaryota; Metazoa; Ecdysozoa; Nematoda; Chromadorea; Rhabditida; Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae; Caenorhabditis
Summary: Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in autophagy and endocytosis. Predicted to be active in autophagosome and endosome. Is expressed in several structures, including intestine. 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]
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Genomic context

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See alfa-1 in Genome Data Viewer

Location:: chromosome: II

Exon count:: 9

Sequence:: Chromosome: II; NC_003280.10 (7658325..7662288, complement)

Chromosome II - NC_003280.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:: NC_003280.10

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A C. elegans model of C9orf72-associated ALS/FTD uncovers a conserved role for eIF2D in RAN translation.
Title: A C. elegans model of C9orf72-associated ALS/FTD uncovers a conserved role for eIF2D in RAN translation.
Loss of alfa-1 causes the nuclear translocation of HLH-30, leading to activation of lipolysis and premature lethality. Alfa-1 regulates HLH-30 through Rag GTPases.
Title: C9orf72/ALFA-1 controls TFEB/HLH-30-dependent metabolism through dynamic regulation of Rag GTPases.
Loss-of-function mutations in alfa-1, the Caenorhabditis elegans ortholog of C9orf72, cause a novel phenotypic defect: endocytosed yolk is abnormally released into the extra-embryonic space, resulting in refractile "blobs."
Title: A C9orf72 ALS/FTD Ortholog Acts in Endolysosomal Degradation and Lysosomal Homeostasis.
a loss of alfa-1/C9ORF72 expression may contribute to motor neuron degeneration in a pathway associated with other known ALS genes.
Title: Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegans.

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

F18A1.6 (e-PCR)
- UniSTS:309810

F18A1.7 (e-PCR)
- UniSTS:309811

Homology

Orthologs from OrthoDB

Gene Ontology Provided by WormBase

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
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info

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: ALS/FTD Associated gene homolog

NP_495603.1

Product from WormBase gene class alfa;
Confirmed by transcript evidence

NP_495604.1

Product from WormBase gene class alfa;
Confirmed by transcript evidence

NCBI Reference Sequences (RefSeq)

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Genome Annotation

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference assembly

Genomic

NC_003280.10 Reference assembly

Range

7658325..7662288 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_063203.6 → NP_495604.1 ALS/FTD Associated gene homolog [Caenorhabditis elegans]

See identical proteins and their annotated locations for NP_495604.1

Status: REVIEWED

UniProtKB/TrEMBL

H2KYA3

Conserved Domains (1) summary

pfam15019
Location:349 → 592

C9orf72-like; C9orf72-like protein family
NM_063202.9 → NP_495603.1 ALS/FTD Associated gene homolog [Caenorhabditis elegans]

See identical proteins and their annotated locations for NP_495603.1

Status: REVIEWED

UniProtKB/TrEMBL

Q95QK5

Conserved Domains (1) summary

pfam15019
Location:352 → 595

C9orf72-like; C9orf72-like protein family