GAN - gigaxonin Gene

Also Known as GIG; GAN1; KLHL16

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8139

About GAN

Cytogenetic location: 16q23.2 Genomic coordinates (GRCh38): 16:81,314,962-81,390,809 (from NCBI)

This gene has 5 transcripts (splice variants), 202 orthologues, 54 paralogues and is associated with 3 phenotypes. Broad expression in skin (RPKM 5.8), esophagus (RPKM 2.0) and 23 other tissues.

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]

GAN Products (2)

mRNA	Protein	Name
NM_001377486.1	NP_001364415.1	gigaxonin isoform 2
NM_022041.4	NP_071324.1	gigaxonin isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12147674	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in protein ubiquitination	IDA IDA: Inferred from direct assay	15983046	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of Cul3-RING ubiquitin ligase complex	IDA IDA: Inferred from direct assay	15983046	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	19424503	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GAN Protein Structure

BTB

BACK

Kelch_1

0
100
200
300
400
500
597 a.a.

Protein Preferred Names	Protein Names
gigaxonin	epididymis secretory sperm binding protein

GAN Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GAN	Q9H2C0	VHL	Homo sapiens	P40337-2	Validated Y2H	32814053
Intra	GAN	Q9H2C0	VHL	Homo sapiens	P40337-2	Y2H Array	32814053
Intra	GAN	Q9H2C0	VHL	Homo sapiens	P40337-2	Y2H Pooling	32814053
Intra	GAN	Q9H2C0	PRKN	Homo sapiens	O60260-5	Validated Y2H	32814053
Intra	GAN	Q9H2C0	PRKN	Homo sapiens	O60260-5	Y2H Pooling	32814053
Intra	GAN	Q9H2C0	PRKN	Homo sapiens	O60260-5	Y2H Array	32814053
Intra	GAN	Q9H2C0	YWHAE	Homo sapiens	P62258	Crosslink	36931259
Intra	GAN	Q9H2C0	UBA1	Homo sapiens	P22314	Y2H	16227972
Intra	GAN	Q9H2C0	UBA1	Homo sapiens	P22314	Pull Down	16227972
Intra	GAN	Q9H2C0	NUDCD3	Homo sapiens	Q8IVD9	Anti Tag CoIP	33961781
Intra	GAN	Q9H2C0	NUDCD3	Homo sapiens	Q8IVD9	Anti Tag CoIP	28514442
Intra	GAN	Q9H2C0	TBCB	Homo sapiens	Q99426	Anti Tag CoIP	16303566
Intra	GAN	Q9H2C0	TBCB	Homo sapiens	Q99426	Y2H	16303566
Intra	GAN	Q9H2C0	MAP1B	Homo sapiens	P46821	Y2H	12147674
Intra	GAN	Q9H2C0	MAP1B	Homo sapiens	P46821	IF	12147674
Cross	GAN	Q9H2C0	Uba1	Rattus norvegicus	Q5U300	Anti Tag CoIP	16227972

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Giant Axonal Neuropathy 1, Autosomal Recessive	Giant Axonal Neuropathy Giant Axonal Neuropathy 1 Gan GAN1 Giant Axonal Neuropathy-1 Neuropathy, Giant Axonal Giant Axonal Disease Neuropathy, Axonal, Giant, Type 1
Axonal Neuropathy
Neuropathy	Peripheral Neuropathy Peripheral Neuropathies
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Giant Axonal Neuropathy 2
Hypotonia
Alcoholic Neuropathy	Alcoholic Polyneuropathy Alcohol-Related Polyneuropathy Alcohol-Induced Polyneuropathy Alcoholic Peripheral Neuropathy
Charcot-Marie-Tooth Disease, Axonal, Type 2e	Charcot-Marie-Tooth Disease Type 2 CMT2E CMT2S CMT2Y Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease Axonal Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2s Charcot-Marie-Tooth Disease, Type 2e Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy, Type 2s Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2y Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y Charcot-Marie-Tooth Neuropathy, Type 2y Charcot-Marie-Tooth Disease, Type 2y Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Neuropathy Type 2e Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation Cmt2 Due To Vcp Mutation Charcot-Marie-Tooth Disease Type 2s Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Cmt2 Charcot-Marie-Tooth Neuropathy, Type 2e Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type Hereditary Motor And Sensory Neuropathy Okinawa Type Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y Charcot-Marie-Tooth Neuropathy Type 2y Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s Charcot-Marie-Tooth Neuropathy Type 2s Charcot-Marie-Tooth Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease 2e Charcot-Marie-Tooth Disease Axonal Type 2e Charcot-Marie-Tooth Disease Neuronal Type 2e Charcot-Marie-Tooth Disease 2s Charcot-Marie-Tooth Neuropathy Axonal Type 2s Charcot-Marie-Tooth Disease 2y Charcot-Marie-Tooth Disease, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii
Ataxia-Oculomotor Apraxia 3	Ataxia With Oculomotor Apraxia Type 3 AOA3 Aaxia-Oculomotor Apraxia-3 Ataxia-Oculomotor Apraxia, Type 3
Charcot-Marie-Tooth Disease, Axonal, Type 2p	CMT2P Charcot-Marie-Tooth Disease Axonal Type 2p Charcot-Marie-Tooth Disease Type 2p Charcot-Marie-Tooth Neuropathy, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2g, Formerly Cmt2g, Formerly Charcot-Marie-Tooth Neuropathy Type 2p Charcot-Marie-Toothe Disease, Axonal, Type 2p Charcot-Marie-Tooth Disease 2p Charcot-Marie-Tooth Disease, Axonal Type 2g Charcot-Marie-Tooth Neuropathy Axonal Type 2p Cmt2g Charcot-Marie-Tooth Disease, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2g
Charcot-Marie-Tooth Disease, Axonal, Type 2r	Charcot-Marie-Tooth Disease Type 2r CMT2R Charcot-Marie-Tooth Neuropathy, Type 2r Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2r Charcot-Marie-Tooth Disease, Type 2r Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2r Charcot-Marie-Tooth Neuropathy Type 2r Charcot-Marie-Tooth Disease 2r Autosomal Recessive Charcot-Marie-Tooth Disease Axonal Type 2r Charcot-Marie-Tooth Disease Axonal Type 2r Charcot-Marie-Tooth Neuropathy Axonal Type 2r
Spinal Muscular Atrophy, X-Linked 2	SMAX2 Arthrogryposis Multiplex Congenita, Distal, X-Linked Infantile-Onset X-Linked Spinal Muscular Atrophy Xlsma Amcx1 Spinal Muscular Atrophy, X-Linked Lethal Infantile Spinal Muscular Atrophy, Infantile X-Linked Amc, Distal, X-Linked Spinal Muscular Atrophy, X-Linked 2, Infantile X-Linked Spinal Muscular Atrophy 2 Spinal Muscular Atrophy With Arthrogryposis X-Linked Distal Arthrogryposis Multiplex Congenita X-Linked Spinal Muscular Atrophy Type 2 Xl-Sma Arthrogryposis, X-Linked, Type I Spinal Muscular Atrophy, X-Linked Infantile X-Linked Infantile Spinal Muscular Atrophy Arthrogryposis, X-Lined, Type I Distal X-Linked Amc Infantile X-Linked Sma X-Linked Arthrogryposis Multiplex Congenita X-Linked Arthrogryposis Type I X-Linked Lethal Infantile Sma Arthrogryposis Spinal Muscular Atrophy Spinal Muscular Atrophy X-Linked 2 Amc Distal X-Linked Arthrogryposis Multiplex Congenita Distal X-Linked Arthrogryposis X-Linked Type I Spinal Muscular Atrophy Infantile X-Linked Spinal Muscular Atrophy X-Linked Lethal Infantile Atrophy, Muscular, Spinal, X-Linked, Type 2, Infantile
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Spastic Paraplegia 55, Autosomal Recessive	SPG55 Hereditary Spastic Paraplegia 55 Autosomal Recessive Spastic Paraplegia Type 55 Autosomal Recessive Spastic Paraplegia 55 Paraplegia, Spastic, Autosomal Recessive, Type 55
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Charcot-Marie-Tooth Disease Type 4 Charcot-Marie-Tooth Disease Type 4e Hereditary Motor And Sensory Neuropathy Cmt4e CHN1 Hypomyelinating Neuropathy, Congenital, 1 Charcot-Marie-Tooth Neuropathy Type 4e Neuropathy, Congenital Hypomyelinating, 1 Ar-Cmt1 Autosomal Recessive Demyelinating Charcot-Marie-Tooth Cmt4 Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive Hypomyelination, Severe Congenital Charcot-Marie-Tooth Disease, Type 4e Charcot-Marie-Tooth Neuropathy, Type 4e Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy Autosomal Recessive Congenital Hypomyelinating Neuropathy Congenital Amyelinating Neuropathy Congenital Hypomyelinating Neuropathy Autosomal Recessive Neuropathy, Congenital Hypomyelinating Or Amyelinating Severe Congenital Hypomyelination Hereditary Sensory Motor Neuropathy Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive Neuropathy, Hypomyelinating, Congenital, Type 1 Neuropathy, Motor And Sensory, Hereditary Congenital Hypomyelinating Neuropathy Hereditary Motor And Sensory Neuropathies Hereditary Sensorimotor Neuropathy Hmsn - [Hereditary Motor And Sensory Neuropathy] Hsmn - [Hereditary Sensory And Motor Neuropathy] Hereditary Motor And Sensory Neuropathy, Types I-Iv
Plexopathy
Inflammatory And Toxic Neuropathy
Charcot-Marie-Tooth Disease, Type 4b2	Charcot-Marie-Tooth Disease Type 4b2 CMT4B2 Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b2 Charcot-Marie-Tooth Neuropathy, Type 4b2 Charcot-Marie-Tooth Neuropathy Type 4b2 Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b2 Cmt 4b2 Charcot Marie Tooth Disease Type 4b2 Charcot-Marie-Tooth Disease 4b2 Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b2 Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b2
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-151481	FXR antagonist 1	Antagonist	99.85%	Unkown
HY-159881	SHS206	Inducer	/	Unkown
HY-RS05269	GAN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS16790	Gan Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23230	Gan Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	GAN	MGD	MGI:1890619
Canis familiaris	GAN	VGNC	VGNC:41105
Bos taurus	GAN	VGNC	VGNC:29244
Felis catus	GAN	VGNC	VGNC:62458
Macaca mulatta	GAN	VGNC	VGNC:72878
Rattus norvegicus	GAN	RGD	RGD:1307766
Others	GAN	NCBI