Mouse Gene Gan (ENSMUST00000064488.10) from GENCODE VM23 Comprehensive Transcript Set (only Basic displayed by default)
  Description: Mus musculus giant axonal neuropathy (Gan), mRNA. (from RefSeq NM_001081151)
Gencode Transcript: ENSMUST00000064488.10
Gencode Gene: ENSMUSG00000052557.11
Transcript (Including UTRs)
   Position: mm10 chr8:117,158,135-117,205,186 Size: 47,052 Total Exon Count: 11 Strand: +
Coding Region
   Position: mm10 chr8:117,158,135-117,204,328 Size: 46,194 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA Structure
Protein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther Names
Model InformationMethods
Data last updated at UCSC: 2019-09-19

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:117,158,135-117,205,186)mRNA (may differ from genome)Protein (597 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsMGI
PubMedReactomeSOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: GAN_MOUSE
DESCRIPTION: RecName: Full=Gigaxonin;
FUNCTION: Probable cytoskeletal component that directly or indirectly plays an important role in neurofilament architecture. 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 (By similarity). Controls degradation of MAP1B and MAP1S, and is critical for neuronal maintenance and survival.
PATHWAY: Protein modification; protein ubiquitination.
SUBUNIT: Interacts with TBCB. Interacts with CUL3. Part of a complex that contains CUL3, RBX1 and GAN. Interacts (via BTB domain) with UBA1 (By similarity). Interacts (via Kelch domains) with MAP1B (via C-terminus) and MAP1S (via C-terminus).
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
TISSUE SPECIFICITY: Expressed in brain, heart and muscle (at protein level).
PTM: Ubiquitinated and probably targeted for proteasome- independent degradation (By similarity).
DISRUPTION PHENOTYPE: Mice have a relatively normal life span. However, they display deterioration in motor function with onset varying from 6 to 10 months as well as abnormalities in non- neuronal tissues. The prominent pathological features include limb weakness, muscular atrophy, axonal degeneration, neurofilament accumulation, an abnormal microtubule network, mitochondrial swelling and thinned myelin sheaths.
SIMILARITY: Contains 1 BACK (BTB/Kelch associated) domain.
SIMILARITY: Contains 1 BTB (POZ) domain.
SIMILARITY: Contains 6 Kelch repeats.

-  Primer design for this transcript
 

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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -294.70858-0.343 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011705 - BACK
IPR000210 - BTB/POZ-like
IPR011333 - BTB/POZ_fold
IPR013069 - BTB_POZ
IPR015916 - Gal_Oxidase_b-propeller
IPR017096 - Kelch-like_gigaxonin
IPR006652 - Kelch_1

Pfam Domains:
PF00651 - BTB/POZ domain
PF01344 - Kelch motif
PF07707 - BTB And C-terminal Kelch
PF13418 - Galactose oxidase, central domain
PF13964 - Kelch motif

SCOP Domains:
81382 - Skp1 dimerisation domain-like
117281 - Kelch motif
63825 - YWTD domain
63829 - Calcium-dependent phosphotriesterase
101898 - NHL repeat
50965 - Galactose oxidase, central domain
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50985 - RCC1/BLIP-II
69322 - Tricorn protease domain 2
54695 - POZ domain

ModBase Predicted Comparative 3D Structure on Q8CA72
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
HumanRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
 RGDEnsembl   
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004842 ubiquitin-protein transferase activity

Biological Process:
GO:0007010 cytoskeleton organization
GO:0016567 protein ubiquitination

Cellular Component:
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0031463 Cul3-RING ubiquitin ligase complex


-  Descriptions from all associated GenBank mRNAs
  BC165989 - Synthetic construct Mus musculus clone IMAGE:100066289, MGC:195426 giant axonal neuropathy (Gan) mRNA, encodes complete protein.
BC112432 - Mus musculus giant axonal neuropathy, mRNA (cDNA clone IMAGE:40062226), partial cds.
AK039455 - Mus musculus adult male spinal cord cDNA, RIKEN full-length enriched library, clone:A330045G18 product:hypothetical Kelch repeat containing protein, full insert sequence.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8CA72 (Reactome details) participates in the following event(s):

R-MMU-983157 Interaction of E3 with substrate and E2-Ub complex
R-MMU-983147 Release of E3 from polyubiquitinated substrate
R-MMU-983140 Transfer of Ub from E2 to substrate and release of E2
R-MMU-8955241 CAND1 binds cytosolic CRL E3 ubiquitin ligases
R-MMU-8955289 COMMDs displace CAND1 from cytosolic CRL E3 ubiquitin ligase complexes
R-MMU-8956040 COP9 signalosome deneddylates cytosolic CRL E3 ubiquitin ligase complexes
R-MMU-983168 Antigen processing: Ubiquitination & Proteasome degradation
R-MMU-983169 Class I MHC mediated antigen processing & presentation
R-MMU-8951664 Neddylation
R-MMU-1280218 Adaptive Immune System
R-MMU-597592 Post-translational protein modification
R-MMU-168256 Immune System
R-MMU-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: GAN_MOUSE, NM_001081151, Q8CA72, uc009nox.1
UCSC ID: uc009nox.1
RefSeq Accession: NM_001081151
Protein: Q8CA72 (aka GAN_MOUSE)
CCDS: CCDS40490.1

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.