GAN gigaxonin [Homo sapiens (human)] - Gene

Summary

Official Symbol: GANprovided by HGNC
Official Full Name: gigaxoninprovided by HGNC
Primary source: HGNC:HGNC:4137
See related: Ensembl:ENSG00000261609 MIM:605379; AllianceGenome:HGNC:4137
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GIG; GAN1; KLHL16
Summary: This gene encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. The encoded protein plays a role in neurofilament architecture and is involved in mediating the ubiquitination and degradation of some proteins. Defects in this gene are a cause of giant axonal neuropathy (GAN). [provided by RefSeq, Oct 2008]
Expression: Broad expression in skin (RPKM 5.8), esophagus (RPKM 2.0) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q23.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (81314962..81390809)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (87375728..87451557)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (81348567..81424414)

Chromosome 16 - NC_000016.10 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Gigaxonin is required for intermediate filament transport.
Title: Gigaxonin is required for intermediate filament transport.
Two novel pathogenic mutations of GAN gene identified in a chinese family with giant axonal neuropathy: a case report.
Title: Two novel pathogenic mutations of GAN gene identified in a chinese family with giant axonal neuropathy: a case report.
Giant axonal neuropathy with novel GAN pathogenic variant in a patient of consanguineous origin from Poonch Jammu and Kashmir-India.
Title: Giant axonal neuropathy with novel GAN pathogenic variant in a patient of consanguineous origin from Poonch Jammu and Kashmir-India.
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion.
Title: Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion.
Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease.
Title: Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease.
gigaxonin as a key E3 ligase that positively controls the initiation of Shh transduction, and reveal the causal role of Shh dysfunction in motor deficits, thus highlighting the developmental origin of giant axonal neuropathy.
Title: Sonic Hedgehog repression underlies gigaxonin mutation-induced motor deficits in giant axonal neuropathy.
Study data clearly show that upon overexpression, KLHL16 degrades several keratins including K6, K16, and K17, associated with wound healing, migration, and inflammation, states that are known to require extensive keratin remodeling.
Title: KLHL16 Degrades Epidermal Keratins.
Our protocol showed high specificity and sensitivity for homozygosity detection and facilitated the identification of novel mutations in GAN, GBA2, and ZFYVE26 in four families affected by hereditary spastic paraplegia or Charcot-Marie-Tooth disease
Title: Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.
We believe that molecular and functional investigation of gigaxonin mutations including the exon 8 polymorphism could lead to an improved understanding of the relationship between GAN and cancer
Title: A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer.
A novel sequence alteration in the gene GAN, c.103G > T, was identified as most likely the underlying cause for a sensory-motor axonal neuropathy in a large consanguineous family presenting as Charcot-Marie-Tooth disease type 2.
Title: Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Giant axonal neuropathy 1 MedGen: C1850386 OMIM: 256850 GeneReviews: GAN-Related Neurodegeneration	Compare labs

EBI GWAS Catalog

Description
Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D16S2809 (e-PCR)
- UniSTS:153379

D16S3282 (e-PCR)
- UniSTS:29313

RH65323 (e-PCR)
- UniSTS:87692

SHGC-145262 (e-PCR)
- UniSTS:182961

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of Cul3-RING ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: gigaxonin

Names: epididymis secretory sperm binding protein; kelch-like family member 16; kelch-like protein 16

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.

Genomic

NG_009007.1 RefSeqGene

Range

5001..70233

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_242

mRNA and Protein(s)

NM_001377486.1 → NP_001364415.1 gigaxonin isoform 2

Status: REVIEWED

Source sequence(s)

AC009148, AC092139

Conserved Domains (2) summary

PHA03098
Location:86 → 289

PHA03098; kelch-like protein; Provisional

sd00038
Location:103 → 147

Kelch; KELCH repeat [structural motif]
NM_022041.4 → NP_071324.1 gigaxonin isoform 1

See identical proteins and their annotated locations for NP_071324.1

Status: REVIEWED

Source sequence(s)

AC092139, BC044840, DR002770

Consensus CDS

CCDS10935.1

UniProtKB/Swiss-Prot

Q9H2C0

UniProtKB/TrEMBL

A0A0S2Z4W2, B3KTC3

Related

ENSP00000497351.1, ENST00000648994.2

Conserved Domains (4) summary

PHA03098
Location:27 → 502

PHA03098; kelch-like protein; Provisional

sd00038
Location:316 → 360

Kelch; KELCH repeat [structural motif]

cd18245
Location:16 → 126

BTB_POZ_KLHL16_gigaxonin; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in gigaxonin

cd18455
Location:130 → 226

BACK_KLHL16_gigaxonin; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 16 (KLHL16)