| Type | Description |
|---|---|
| Definition | gigaxonin |
| Date | Results | Publications |
|---|---|---|
| 2020-10-10 12:57:00 | Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease. | 31852984 |
| 2020-06-13 11:05:00 | gigaxonin as a key E3 ligase that positively controls the initiation of Shh transduction, and reveal the causal role of Shh dysfunction in motor deficits, thus highlighting the developmental origin of giant axonal neuropathy. | 31503551 |
| 2019-06-15 12:38:00 | Study data clearly show that upon overexpression, KLHL16 degrades several keratins including K6, K16, and K17, associated with wound healing, migration, and inflammation, states that are known to require extensive keratin remodeling. | 29481904 |
| 2017-12-16 10:25:00 | Our protocol showed high specificity and sensitivity for homozygosity detection and facilitated the identification of novel mutations in GAN, GBA2, and ZFYVE26 in four families affected by hereditary spastic paraplegia or Charcot-Marie-Tooth disease | 26492578 |
| 2017-06-24 10:54:00 | We believe that molecular and functional investigation of gigaxonin mutations including the exon 8 polymorphism could lead to an improved understanding of the relationship between GAN and cancer | 27023907 |
| Type | IDs |
|---|---|
| Synonymous | GAN1, KLHL16 |
| Gene |
UniProtKB-ID:
GAN_HUMAN,
A0A0S2Z4W2_HUMAN,
B3KTC3_HUMAN
UniprotKB:
Q9H2C0,
A0A0S2Z4W2,
B3KTC3
UniParc:
UPI00003E5EA0,
UPI000000DAB6
EMBL:
AK095378,
AF291673,
KU178409,
CH471114,
BC044840,
GQ901025
Ensembl:
ENSG00000261609
KO:
hsa:8139
|
| Nucleutide sequences |
EMBL-CDS:
AAH44840.1,
AAG35311.1,
ADO22542.1,
EAW95535.1,
ALQ33867.1,
BAG53035.1
Gene_ORFName:
hCG_22116
Ensembl_TRS:
ENST00000648994
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000497351
RefSeq:
NP_071324.1,
NP_001364415.1
|
| Others |
UniRef100:
UniRef100_Q9H2C0,
UniRef100_B3KTC3
UniRef90:
UniRef90_Q9H2C0,
UniRef90_Q8CA72
UniRef50:
UniRef50_Q9H2C0,
UniRef50_Q8CA72
UniGene:
Hs.112569
CCDS:
CCDS10935.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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