gan

ID

ZDB-GENE-121221-1

Name

gigaxonin

Symbol

gan Nomenclature History

Previous Names

None

Type

protein_coding_gene

Location

Chr: 18 Mapping Details/Browsers

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Acts upstream of or within several processes, including regulation of neuromuscular junction development; regulation of somitogenesis; and spinal cord motor neuron cell fate specification. Predicted to be part of Cul3-RING ubiquitin ligase complex. Predicted to be active in cytoplasm. Is expressed in eye; heart; muscle; and notochord. Human ortholog(s) of this gene implicated in giant axonal neuropathy 1. Orthologous to human GAN (gigaxonin).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Arribat et al., 2019

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 6 figures from Arribat et al., 2019
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With gan Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
giant axonal neuropathy 1	Alliance	Giant axonal neuropathy-1	256850

Associated With gan Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR000210	BTB/POZ domain
Domain	IPR011705	BTB/Kelch-associated
Domain	IPR030579	Gigaxonin, BACK domain
Domain	IPR047070	Gigaxonin, BTB/POZ domain
Family	IPR017096	BTB-kelch protein
Homologous_superfamily	IPR011333	SKP1/BTB/POZ domain superfamily
Homologous_superfamily	IPR015915	Kelch-type beta propeller
Repeat	IPR006652	Kelch repeat type 1