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Aliases for GAN Gene

Aliases for GAN Gene

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

External Ids for GAN Gene

Previous GeneCards Identifiers for GAN Gene

  • GC16P072189
  • GC16P082309
  • GC16P081087
  • GC16P081128
  • GC16P079906
  • GC16P067103

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 giant axonal neuropathy and giant axonal neuropathy-1. Among its related pathways are Immune System and Antigen processing- Ubiquitination and Proteasome degradation. 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

Regulatory Elements for GAN Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GAN Gene

Chromosome:
16
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:
GeneLoc Logo Gene Density

RefSeq DNA sequence 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

    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:
REFSEQ proteins:

No data available for DME Specific Peptides for GAN Gene

Domains & Families for GAN Gene

Gene Families for GAN Gene

Suggested Antigen Peptide Sequences for GAN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H2C0

UniProtKB/Swiss-Prot:

GAN_HUMAN :
  • Contains 1 BACK (BTB/Kelch associated) domain.
  • Contains 6 Kelch repeats.
Domain:
  • Contains 1 BACK (BTB/Kelch associated) domain.
  • Contains 1 BTB (POZ) domain.
Similarity:
  • Contains 6 Kelch repeats.
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:0004842 contributes_to ubiquitin-protein transferase activity IBA --
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:

miRNA for GAN Gene

miRTarBase miRNAs that target GAN

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GAN

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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

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 & Interactions for GAN Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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 --
GO:0016567 protein ubiquitination IDA 15983046
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process IBA --
genes like me logo Genes that share ontologies with GAN: view

No data available for SIGNOR curated interactions for GAN Gene

Drugs & Compounds for GAN Gene

No Compound Related Data Available

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:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GAN

Flow Cytometry Products

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) (x7.3) and Skin - Not Sun Exposed (Suprapubic) (x6.4).

Protein differential expression in normal tissues from HIPED for GAN Gene

This gene is overexpressed in Cervix (20.1), Spinal cord (11.7), and Fetal Brain (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with GAN: view

Protein tissue co-expression partners for GAN Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for GAN Gene

Orthologs for GAN Gene

This gene was present in the common ancestor of animals.

Orthologs for GAN Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GAN 35
  • 87.1 (n)
  • 98.49 (a)
GAN 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GAN 35
  • 92.46 (n)
  • 99.16 (a)
GAN 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gan 35
  • 87.44 (n)
  • 98.32 (a)
Gan 16
Gan 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GAN 35
  • 94.74 (n)
  • 93.89 (a)
GAN 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gan 35
  • 87.16 (n)
  • 97.82 (a)
oppossum
(Monodelphis domestica)
Mammalia GAN 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GAN 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves GAN 35
  • 81.69 (n)
  • 91.62 (a)
GAN 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GAN 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gan 35
  • 75.2 (n)
  • 84.41 (a)
Str.16055 35
zebrafish
(Danio rerio)
Actinopterygii LOC100537435 35
  • 66.3 (n)
  • 69.23 (a)
CABZ01034126.1 36
  • 67 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F47D12.7 36
  • 18 (a)
OneToMany
kel-10 36
  • 18 (a)
OneToMany
spe-26 36
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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

(1) 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

Variation tolerance for GAN Gene

Residual Variation Intolerance Score: 5.45% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.40; 27.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GAN Gene

HapMap Linkage Disequilibrium report
GAN
Human Gene Mutation Database (HGMD)
GAN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GAN Gene

Disorders for GAN Gene

MalaCards: The human disease database

(5) MalaCards diseases for GAN Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

- elite association
Search GAN in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for GAN

Genetic Association Database (GAD)
GAN
Human Genome Epidemiology (HuGE) Navigator
GAN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GAN
genes like me logo Genes that share disorders with GAN: view

No data available for Genatlas for GAN Gene

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 23 67
  2. Phenotypic variability in giant axonal neuropathy. (PMID: 19231187) Tazir M. … Vallat J.M. (Neuromuscul. Disord. 2009) 23 67
  3. Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway. (PMID: 19168853) Cleveland D.W. … Bomont P. (Hum. Mol. Genet. 2009) 23 67
  4. Clinical and genetic studies in a Chinese family with giant axonal neuropathy. (PMID: 19295179) Zhang L.P. … Zou L.P. (J. Child Neurol. 2009) 23 67
  5. Genome-wide screen identifies drug-induced regulation of the gene giant axonal neuropathy (Gan) in a mouse model of antiretroviral-induced painful peripheral neuropathy. (PMID: 19398414) Dorsey S.G. … Dionne R.A. (Biol Res Nurs 2009) 23 67

Products for GAN Gene

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