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GAN

Available structures

Ortholog search: PDBe RCSB

List of PDB id codes
2PPI, 3HVE

Identifiers

Aliases

GAN, GAN1, KLHL16, gigaxonin, GIG, giant axonal neuropathy gene, GAN gene

External IDs

OMIM: 605379; MGI: 1890619; HomoloGene: 32523; GeneCards: GAN; OMA:GAN - orthologs

Gene location (Human)

Chr.	Chromosome 16 (human)^[1]

Band	16q23.2	Start	81,314,944 bp^[1]
Band	16q23.2	End	81,390,809 bp^[1]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

skin of thigh

skin of hip

human penis

vulva

nipple

gingival epithelium

testicle

skin of abdomen

corpus callosum

oral cavity

n/a

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	protein binding ubiquitin-protein transferase activity molecular function
Cellular component	cytoplasm Cul3-RING ubiquitin ligase complex cytoskeleton cytosol
Biological process	cytoskeleton organization protein ubiquitination post-translational protein modification
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


8139


209239

Ensembl


ENSG00000261609


ENSMUSG00000052557

UniProt


Q9H2C0


Q8CA72

RefSeq (mRNA)


NM_022041 NM_001377486


NM_001081151

RefSeq (protein)


NP_071324


NP_001074620

Location (UCSC)

Chr 16: 81.31 – 81.39 Mb

n/a

PubMed search

^[2]

^[3]

Wikidata

View/Edit Human

View/Edit Mouse

Gigaxonin also known as kelch-like protein 16 is a protein that in humans is encoded by the GAN gene.^[4]^[5]^[6]

Function

Gigaxonin is a member of the cytoskeletal BTB / kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. (Kelch repeats are predicted to form a beta-propeller shape.) Gigaxonin plays a role in neurofilament architecture and is mutated in giant axonal neuropathy.^[6]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000261609 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Flanigan KM, Crawford TO, Griffin JW, Goebel HH, Kohlschutter A, Ranells J, Camfield PR, Ptacek LJ (Feb 1998). "Localization of the giant axonal neuropathy gene to chromosome 16q24". Ann Neurol. 43 (1): 143–8. doi:10.1002/ana.410430126. PMID 9450783. S2CID 33206272.
^ Bomont P, Cavalier L, Blondeau F, Ben Hamida C, Belal S, Tazir M, Demir E, Topaloglu H, Korinthenberg R, Tuysuz B, Landrieu P, Hentati F, Koenig M (Dec 2000). "The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy". Nat Genet. 26 (3): 370–4. doi:10.1038/81701. PMID 11062483. S2CID 2917153.
^ ^a ^b "Entrez Gene: GAN giant axonal neuropathy (gigaxonin)".

Yang Y, Allen E, Ding J, Wang W (2007). "Giant axonal neuropathy". Cell. Mol. Life Sci. 64 (5): 601–9. doi:10.1007/s00018-007-6396-4. PMC 11149474. PMID 17256086. S2CID 8113473.
Kuhlenbäumer G, Young P, Oberwittler C, et al. (2002). "Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene". Neurology. 58 (8): 1273–6. doi:10.1212/wnl.58.8.1273. PMID 11971098. S2CID 31121602.
Ding J, Liu JJ, Kowal AS, et al. (2002). "Microtubule-associated protein 1B: a neuronal binding partner for gigaxonin". J. Cell Biol. 158 (3): 427–33. doi:10.1083/jcb.200202055. PMC 2173828. PMID 12147674.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Bomont P, Ioos C, Yalcinkaya C, et al. (2003). "Identification of seven novel mutations in the GAN gene". Hum. Mutat. 21 (4): 446. doi:10.1002/humu.9122. PMID 12655563. S2CID 45580532.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Benzinger A, Muster N, Koch HB, et al. (2005). "Targeted proteomic analysis of 14-3-3 sigma, a p53 effector commonly silenced in cancer". Mol. Cell. Proteomics. 4 (6): 785–95. doi:10.1074/mcp.M500021-MCP200. PMID 15778465.
Allen E, Ding J, Wang W, et al. (2005). "Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival". Nature. 438 (7065): 224–8. Bibcode:2005Natur.438..224A. doi:10.1038/nature04256. PMID 16227972. S2CID 4401163.
Wang W, Ding J, Allen E, et al. (2006). "Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathway". Curr. Biol. 15 (22): 2050–5. doi:10.1016/j.cub.2005.10.052. PMID 16303566. S2CID 13939886.
Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
Leung CL, Pang Y, Shu C, et al. (2007). "Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients". BMC Genet. 8: 6. doi:10.1186/1471-2156-8-6. PMC 1810559. PMID 17331252.
Houlden H, Groves M, Miedzybrodzka Z, et al. (2007). "New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy". J. Neurol. Neurosurg. Psychiatry. 78 (11): 1267–70. doi:10.1136/jnnp.2007.118968. PMC 2117591. PMID 17578852.
Koop O, Schirmacher A, Nelis E, et al. (2007). "Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN)". Neuromuscul. Disord. 17 (8): 624–30. doi:10.1016/j.nmd.2007.03.012. PMID 17587580. S2CID 23376570.

v t e PDB gallery
2ppi: Structure of the BTB (Tramtrack and Bric a brac) domain of human Gigaxonin

Proteins of the cytoskeleton

Human

Microfilaments
and ABPs

Myofilament

Actins	A1 A2 B C1 G1 G2
Myosins	I MYO1A MYO1B MYO1C MYO1D MYO1E MYO1F MYO1G MYO1H) II MYH1 MYH2 MYH3 MYH4 MYH6 MYH7 MYH7B MYH8 MYH9 MYH10 MYH11 MYH13 MYH14 MYH15 MYH16 III MYO3A MYO3B V MYO5A MYO5B MYO5C VI MYO6 VII MYO7A MYO7B IX MYO9A MYO9B X MYO10 XV MYO15A XVIII MYO18A MYO18B LC MYL1 MYL2 MYL3 MYL4 MYL5 MYL6 MYL6B MYL7 MYL9 MYLIP MYLK MYLK2 MYLL1
Other	Tropomodulin 1 2 3 4 Troponin T 1 2 3 C 1 2 I 1 2 3 Tropomyosin 1 2 3 4 Actinin 1 2 3 4 Arp2/3 complex actin depolymerizing factors Cofilin 1 2 Destrin Gelsolin Profilin 1 2 Titin

Other

Intermediate
filaments

Type 1/2
(Keratin,
Cytokeratin)

Epithelial keratins (soft alpha-keratins)	type I/chromosome 17 9 10 12 13 14 15 16 17 19 20 chromosome 12 18 none 21 type II/chromosome 12 1 2A 3 4 5 6A 6B 6C 7 8
Hair keratins (hard alpha-keratins)	type I/chromosome 17 31 32 33A 33B 34 35 36 37 38 type II/chromosome 12 81 82 83 84 85 86
Ungrouped alpha	chromosome 17 23 24 25 26 27 28 39 40 chromosome 12 71 72 73 74 75 76 77 78 79 80
Not alpha	Beta-keratin

Type 3

Type 4

Type 5

Microtubules
and MAPs

Tubulins	TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA8 TUBB TUBB1 TUBB2A TUBB2B TUBB2C TUBB3 TUBB4 TUBB4Q TUBB6 TUBB8 TUBG1 TUBG2 TUBGCP2 TUBGCP3 TUBGCP4 TUBGCP5 TUBGCP6 TUBD1 TUBE1
MAPs	EB1 EB2 EB3 MAP1A MAP1B MAP2 MAP4
Kinesins	KIF1A KIF1B KIF2A KIF2C KIF3B KIF3C KIF4A KIF4B KIF5A KIF5B KIF5C KIF6 KIF7 KIF9 KIF11 KIF12 KIF13A KIF13B KIF14 KIF15 KIF16B KIF17 KIF18A KIF18B KIF19 KIF20A KIF20B KIF21A KIF21B KIF22 KIF23 KIF24 KIF25 KIF26A KIF26B KIF27 KIFC1 KIFC2 KIFC3
Dyneins	axonemal: DNAH1 DNAH2 DNAH3 DNAH5 DNAH6 DNAH7 DNAH8 DNAH9 DNAH10 DNAH11 DNAH12 DNAH13 DNAH14 DNAH17 DNAI1 DNAI2 DNALI1 DNAL1 DNAL4 cytoplasmic: DYNC1H1 DYNC2H1 DYNC1I1 DYNC1I2 DYNC1LI1 DYNC1LI2 DYNC2LI1 DYNLL1 DYNLL2 DYNLRB1 DYNLRB2 DYNLT1 DYNLT3
Microtubule organising proteins	CAMSAP1 CAMSAP2 CAMSAP3 Centrin 1 Centrin 2 Centrin 3 PCM1
Microtubule severing proteins	Katanin Spastin
Other	Tau protein Dynactin DCTN1 Stathmin Tektin TEKT1 TEKT2 TEKT3 TEKT4 TEKT5 Dynamin DNM1 DNM2 DNM3

Catenins

Membrane

Dystrophin
- Dystroglycan
Utrophin
Ankyrin
- ANK1
- ANK2
- ANK3
Spectrin
- SPTA1
- SPTAN1
- SPTB
- SPTBN1
- SPTBN2
- SPTBN4
- SPTBN5

Other

Plakins
- Corneodesmosin
- Desmoplakin
- Dystonin
- Envoplakin
- MACF1
- Periplakin
- Plectin
Talin
- TLN1
Vinculin
Plakophilin
- PKP1
- PKP2
ACF7
PLEKHA7

Nonhuman

See also: cytoskeletal defects

This article on a gene on human chromosome 16 is a stub. You can help Wikipedia by expanding it.

This page was last edited on 10 June 2024, at 06:21

Gigaxonin

From Wikipedia, the free encyclopedia

Function

See also

References

Further reading