GAN - gigaxonin Gene

Homo sapiens

Also known as GIG; GAN1; KLHL16

Gene ID: 8139 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12147674	GOA

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

Cellular Component GO Annotation	Evidence	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-151481	FXR antagonist 1	Antagonist	98.01%	Unkown
HY-159881	SHS206	Inducer	/	Unkown
HY-RS05269	GAN Human Pre-designed siRNA Set A	Pre-designed Sets	/	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
Macaca fascicularis	GAN	NCBI	NCBI:102115757
Canis lupus familiaris	GAN	NCBI
Susscrofa domestica	GAN	NCBI
Leporidae	GAN	NCBI
Others	GAN	NCBI

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