Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GAN Gene

Aliases for GAN Gene

  • Gigaxonin 2 3
  • GAN1 3 4 6
  • Kelch-Like Family Member 16 2 3
  • Kelch-Like Protein 16 3 4
  • KLHL16 3 4
  • Giant Axonal Neuropathy (Gigaxonin) 2

External Ids for GAN Gene

Summaries for GAN Gene

Entrez Gene Summary for GAN Gene

  • 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]

GeneCards Summary for GAN Gene

GAN (Gigaxonin) is a Protein Coding gene. Diseases associated with GAN include endometriosis of uterus and giant axonal neuropathy. Among its related pathways are Class I MHC mediated antigen processing and presentation and Class I MHC mediated antigen processing and presentation. An important paralog of this gene is IVNS1ABP.

UniProtKB/Swiss-Prot for GAN Gene

  • Probable cytoskeletal component that directly or indirectly plays an important role in neurofilament architecture. May act as a substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Controls degradation of TBCB. Controls degradation of MAP1B and MAP1S, and is critical for neuronal maintenance and survival.

Gene Wiki entry for GAN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GAN Gene

Genomics for GAN Gene

Genomic Location for GAN Gene

Start:
81,314,952 bp from pter
End:
81,390,884 bp from pter
Size:
75,933 bases
Orientation:
Plus strand

Genomic View for GAN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GAN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GAN Gene

Regulatory Elements for GAN Gene

Proteins for GAN Gene

  • Protein details for GAN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H2C0-GAN_HUMAN
    Recommended name:
    Gigaxonin
    Protein Accession:
    Q9H2C0
    Secondary Accessions:

    Protein attributes for GAN Gene

    Size:
    597 amino acids
    Molecular mass:
    67638 Da
    Quaternary structure:
    • Interacts with TBCB. Interacts with CUL3. Part of a complex that contains CUL3, RBX1 and GAN. Interacts (via BTB domain) with UBA1. Interacts (via Kelch domains) with MAP1B (via C-terminus) and MAP1S (via C-terminus).

    Three dimensional structures from OCA and Proteopedia for GAN Gene

neXtProt entry for GAN Gene

Proteomics data for GAN Gene at MOPED

Post-translational modifications for GAN Gene

  • Ubiquitinated by E3 ubiquitin ligase complex formed by CUL3 and RBX1 and probably targeted for proteasome-independent degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GAN Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for GAN Gene

Domains for GAN Gene

Gene Families for GAN Gene

HGNC:
  • BTBD :BTB/POZ domain containing
  • KLHL :Kelch-like

UniProtKB/Swiss-Prot:

GAN_HUMAN
Domain:
  • Contains 1 BACK (BTB/Kelch associated) domain.:
    • Q9H2C0
  • Contains 1 BTB (POZ) domain.:
    • Q9H2C0
Similarity:
  • Contains 6 Kelch repeats.:
    • Q9H2C0
genes like me logo Genes that share domains with GAN: view

Function for GAN Gene

Molecular function for GAN Gene

UniProtKB/Swiss-Prot Function: Probable cytoskeletal component that directly or indirectly plays an important role in neurofilament architecture. May act as a substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Controls degradation of TBCB. Controls degradation of MAP1B and MAP1S, and is critical for neuronal maintenance and survival.

Gene Ontology (GO) - Molecular Function for GAN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 12147674
genes like me logo Genes that share ontologies with GAN: view
genes like me logo Genes that share phenotypes with GAN: view

Animal Models for GAN Gene

MGI Knock Outs for GAN:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for GAN Gene

Localization for GAN Gene

Subcellular locations from UniProtKB/Swiss-Prot for GAN Gene

Cytoplasm. Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GAN Gene COMPARTMENTS Subcellular localization image for GAN gene
Compartment Confidence
cytoskeleton 5
cytosol 2
endoplasmic reticulum 1
mitochondrion 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for GAN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 19424503
GO:0005856 cytoskeleton IEA --
GO:0031463 Cul3-RING ubiquitin ligase complex IDA 15983046
genes like me logo Genes that share ontologies with GAN: view

Pathways for GAN Gene

genes like me logo Genes that share pathways with GAN: view

UniProtKB/Swiss-Prot Q9H2C0-GAN_HUMAN

  • Pathway: Protein modification; protein ubiquitination

Gene Ontology (GO) - Biological Process for GAN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IEA --
GO:0008219 cell death --
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with GAN: view

Transcripts for GAN Gene

mRNA/cDNA for GAN Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(24) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GAN Gene

Gigaxonin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GAN Gene

No ASD Table

Relevant External Links for GAN Gene

GeneLoc Exon Structure for
GAN
ECgene alternative splicing isoforms for
GAN

Expression for GAN Gene

mRNA expression in normal human tissues for GAN Gene

mRNA differential expression in normal tissues according to GTEx for GAN Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (7.3) and Skin - Not Sun Exposed (Suprapubic) (6.4).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for GAN Gene

SOURCE GeneReport for Unigene cluster for GAN Gene Hs.112569

mRNA Expression by UniProt/SwissProt for GAN Gene

Q9H2C0-GAN_HUMAN
Tissue specificity: Expressed in brain, heart and muscle.
genes like me logo Genes that share expressions with GAN: view

Orthologs for GAN Gene

This gene was present in the common ancestor of animals.

Orthologs for GAN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GAN 36
  • 94.74 (n)
  • 93.89 (a)
GAN 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GAN 36
  • 87.1 (n)
  • 98.49 (a)
GAN 37
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GAN 36
  • 92.46 (n)
  • 99.16 (a)
GAN 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gan 36
  • 87.44 (n)
  • 98.32 (a)
Gan 16
Gan 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GAN 37
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GAN 37
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gan 36
  • 87.16 (n)
  • 97.82 (a)
chicken
(Gallus gallus)
Aves GAN 36
  • 81.69 (n)
  • 91.62 (a)
GAN 37
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GAN 37
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gan 36
  • 75.2 (n)
  • 84.41 (a)
Str.16055 36
zebrafish
(Danio rerio)
Actinopterygii CABZ01034126.1 37
  • 67 (a)
OneToOne
LOC100537435 36
  • 66.3 (n)
  • 69.23 (a)
worm
(Caenorhabditis elegans)
Secernentea F47D12.7 37
  • 18 (a)
OneToMany
kel-10 37
  • 18 (a)
OneToMany
spe-26 37
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 14 (a)
OneToOne
Species with no ortholog for GAN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GAN Gene

ENSEMBL:
Gene Tree for GAN (if available)
TreeFam:
Gene Tree for GAN (if available)

Paralogs for GAN Gene

Paralogs for GAN Gene

Selected SIMAP similar genes for GAN Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with GAN: view

Variants for GAN Gene

Sequence variations from dbSNP and Humsavar for GAN Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs1934 -- 81,378,360(-) CTTCC(C/T)GGCTC utr-variant-3-prime
rs67333 -- 81,353,599(+) TACTC(C/T)TCATG intron-variant
rs310026 -- 81,368,114(+) AAGCC(A/G)TATCT intron-variant
rs310027 -- 81,368,834(+) AAAAT(C/T)AGCCA intron-variant
rs310028 -- 81,369,363(+) accat(C/G)aaaga intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GAN Gene

Variant ID Type Subtype PubMed ID
nsv524477 CNV Gain 19592680
nsv524464 CNV Gain 19592680

Relevant External Links for GAN Gene

HapMap Linkage Disequilibrium report
GAN
Human Gene Mutation Database (HGMD)
GAN
Locus Specific Mutation Databases (LSDB)
GAN

Disorders for GAN Gene

(1) OMIM Diseases for GAN Gene (605379)

UniProtKB/Swiss-Prot

GAN_HUMAN
  • Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]: A severe autosomal recessive sensorimotor neuropathy affecting both the peripheral nerves and the central nervous system. Axonal loss and the presence of giant axonal swellings filled with neurofilaments on nerve biopsies are the hallmarks of this neurodegenerative disorder. {ECO:0000269 PubMed:11062483, ECO:0000269 PubMed:11971098, ECO:0000269 PubMed:12655563, ECO:0000269 PubMed:17578852, ECO:0000269 PubMed:17587580}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) Novoseek inferred disease relationships for GAN Gene

Disease -log(P) Hits PubMed IDs
neuropathy, giant axonal 99 18
neurodegenerative diseases 63.2 5

Relevant External Links for GAN

GeneTests
GAN
GeneReviews
GAN
Genetic Association Database (GAD)
GAN
Human Genome Epidemiology (HuGE) Navigator
GAN
genes like me logo Genes that share disorders with GAN: view

Publications for GAN Gene

  1. The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. (PMID: 11062483) Bomont P. … Koenig M. (Nat. Genet. 2000) 2 3 4 23
  2. Microtubule-associated protein 1B: a neuronal binding partner for gigaxonin. (PMID: 12147674) Ding J. … Yang Y. (J. Cell Biol. 2002) 3 4 23
  3. Identification of seven novel mutations in the GAN gene. (PMID: 12655563) Bomont P. … Koenig M. (Hum. Mutat. 2003) 3 4 23
  4. Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival. (PMID: 16227972) Allen E. … Yang Y. (Nature 2005) 3 4 23
  5. Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathway. (PMID: 16303566) Wang W. … Yang Y. (Curr. Biol. 2005) 3 4 23

Products for GAN Gene

Sources for GAN Gene

Back to Top

Content