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Aliases for GAN Gene

Aliases for GAN Gene

  • Gigaxonin 2 3 3 5
  • 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
  • GC16P081348
  • 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-1 and Giant Axonal Neuropathy. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. An important paralog of this gene is IPP.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GAN Gene

Genomics for GAN Gene

Regulatory Elements for GAN Gene

Enhancers for GAN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G081813 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.2 +504.1 504149 12.2 HDGF PKNOX1 ZNF133 WRNIP1 SIN3A FEZF1 GATA2 ELK1 ZNF143 JUNB PLCG2 ENSG00000260495 ENSG00000261141 GAN CMIP GC16M081818 GC16P081959
GH16G081737 1.5 Ensembl ENCODE dbSUPER 10.5 +424.4 424431 3.6 HDGF PKNOX1 ATF1 WRNIP1 ARID4B ZNF2 ZNF48 ZNF143 KDM4B MXD4 CMIP GAN ENSG00000261218 PLCG2 GC16M081818
GH16G081745 1.3 Ensembl ENCODE 9.9 +431.3 431322 1.3 PKNOX1 CREB3L1 ARNT ARID4B SIN3A YY1 ZNF766 ZNF143 ZHX2 REST CMIP GAN PLCG2 GC16M081818
GH16G081272 0.9 ENCODE 11.5 -38.5 -38477 7.0 PKNOX1 SIN3A RAD21 ZBTB40 ZNF121 ZNF207 RCOR1 FOS HCFC1 ZHX2 GAN PKD1L2 RNU6-1191P ENSG00000280182 GC16M081310
GH16G081825 0.7 dbSUPER 10.2 +512.5 512477 3.7 BCOR RING1 ZMYM3 BMI1 ZBTB40 POLR2A ADNP HNF4G NR2F6 RNF2 GAN PLCG2 GC16M081818 GC16P081959
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GAN on UCSC Golden Path with GeneCards custom track

Promoters for GAN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000088431 148 2201 PKNOX1 FOXA2 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207

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

Genes around GAN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GAN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GAN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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

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

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

No data available for UniProtKB/Swiss-Prot for GAN Gene

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

Human Phenotype Ontology for GAN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GAN Gene

MGI Knock Outs for GAN:

Animal Model Products

miRNA for GAN Gene

miRTarBase miRNAs that target GAN

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GAN

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GAN gene
Compartment Confidence
cytoskeleton 5
cytosol 2
plasma membrane 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for GAN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 19424503
GO:0005829 cytosol TAS --
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

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:0016567 protein ubiquitination IEA --
GO:0043687 post-translational protein modification TAS --
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

Unigene Clusters for GAN Gene

Gigaxonin:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GAN

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for GAN Gene



Protein tissue co-expression partners for GAN Gene

NURSA nuclear receptor signaling pathways regulating expression of GAN Gene:

GAN

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.

Evidence on tissue expression from TISSUES for GAN Gene

  • Nervous system(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GAN Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • head
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • arm
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • upper limb
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with GAN: view

Primer 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
oppossum
(Monodelphis domestica)
Mammalia GAN 35
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GAN 34 35
  • 94.74 (n)
dog
(Canis familiaris)
Mammalia GAN 34 35
  • 92.46 (n)
mouse
(Mus musculus)
Mammalia Gan 34 16 35
  • 87.44 (n)
rat
(Rattus norvegicus)
Mammalia Gan 34
  • 87.16 (n)
cow
(Bos Taurus)
Mammalia GAN 34 35
  • 87.1 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GAN 35
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves GAN 34 35
  • 81.69 (n)
lizard
(Anolis carolinensis)
Reptilia GAN 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gan 34
  • 75.2 (n)
Str.16055 34
zebrafish
(Danio rerio)
Actinopterygii CABZ01034126.1 35
  • 67 (a)
OneToOne
LOC100537435 34
  • 66.3 (n)
worm
(Caenorhabditis elegans)
Secernentea F47D12.7 35
  • 18 (a)
OneToMany
kel-10 35
  • 18 (a)
OneToMany
spe-26 35
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 14 (a)
OneToOne
Species where no ortholog for GAN was found in the sources mined by GeneCards:
  • 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
rs112201678 Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] 81,377,435(+) ACGTG(C/T)GTGAG reference, missense
rs119485088 Pathogenic, Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] 81,365,432(+) GTAGC(A/C/G)AGATG reference, missense
rs119485091 Pathogenic, Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] 81,365,005(+) GAAAA(C/T)CTACG reference, missense
rs119485092 Pathogenic, Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] 81,354,535(+) TATCC(A/G/T)TGACT reference, missense, utr-variant-5-prime
rs119485093 Pathogenic, Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] 81,315,156(+) CCGCG(A/C)GTCTG reference, missense, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
esv3639330 CNV loss 21293372
nsv524464 CNV gain 19592680
nsv524477 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

Human Gene Mutation Database (HGMD)
GAN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GAN

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

Disorders for GAN Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
giant axonal neuropathy-1
  • giant axonal neuropathy 1, autosomal recessive
giant axonal neuropathy
  • gan
axonal neuropathy
neuropathy
  • peripheral neuropathy
jejunal cancer
  • malignant neoplasm of jejunum
- elite association - COSMIC cancer census association via MalaCards
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:16303566, 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 3 4 22 64
  2. New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy. (PMID: 17578852) Houlden H. … Reilly M.M. (J. Neurol. Neurosurg. Psych. 2007) 3 4 22 64
  3. Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN). (PMID: 17587580) Koop O. … Kuhlenbaeumer G. (Neuromuscul. Disord. 2007) 3 4 22 64
  4. Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival. (PMID: 16227972) Allen E. … Yang Y. (Nature 2005) 3 4 22 64
  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 22 64

Products for GAN Gene

Sources for GAN Gene

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