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Protein

Gigaxonin

Gene

GAN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.4 Publications

Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

GO - Biological processi

Keywordsi

Biological processUbl conjugation pathway

Enzyme and pathway databases

ReactomeiR-HSA-8951664 Neddylation
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
UniPathwayi
UPA00143

Names & Taxonomyi

Protein namesi
Recommended name:
Gigaxonin
Alternative name(s):
Kelch-like protein 16
Gene namesi
Name:GAN
Synonyms:GAN1, KLHL16
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000261609.3
HGNCiHGNC:4137 GAN
MIMi605379 gene
neXtProtiNX_Q9H2C0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Giant axonal neuropathy 1, autosomal recessive (GAN1)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:256850
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01075915R → S in GAN1; no effect on binding to TBCB. 2 PublicationsCorresponds to variant dbSNP:rs119485093EnsemblClinVar.1
Natural variantiVAR_05411351A → P in GAN1. 1 PublicationCorresponds to variant dbSNP:rs750258209Ensembl.1
Natural variantiVAR_01076052S → G in GAN1. 1 Publication1
Natural variantiVAR_01076179S → L in GAN1. 1 PublicationCorresponds to variant dbSNP:rs1310137430Ensembl.1
Natural variantiVAR_01076282V → F in GAN1; no effect on binding to TBCB. 2 Publications1
Natural variantiVAR_01568086I → F in GAN1. 1 Publication1
Natural variantiVAR_05411489Y → C in GAN1. 1 Publication1
Natural variantiVAR_010763138R → H in GAN1. 1 PublicationCorresponds to variant dbSNP:rs119485092EnsemblClinVar.1
Natural variantiVAR_054115195V → F in GAN1. 1 Publication1
Natural variantiVAR_010764269R → Q in GAN1. 2 PublicationsCorresponds to variant dbSNP:rs759581558EnsemblClinVar.1
Natural variantiVAR_010765309L → R in GAN1. 1 Publication1
Natural variantiVAR_054116315P → L in GAN1. 1 PublicationCorresponds to variant dbSNP:rs144486241EnsemblClinVar.1
Natural variantiVAR_015681368G → R in GAN1. 2 PublicationsCorresponds to variant dbSNP:rs758756818Ensembl.1
Natural variantiVAR_015560423I → T in GAN1. 2 PublicationsCorresponds to variant dbSNP:rs119485091EnsemblClinVar.1
Natural variantiVAR_054117474G → R in GAN1. 1 Publication1
Natural variantiVAR_010757486E → K in GAN1. 1 PublicationCorresponds to variant dbSNP:rs119485088EnsemblClinVar.1
Natural variantiVAR_010766545R → C in GAN1; complete loss of binding to TBCB. 2 PublicationsCorresponds to variant dbSNP:rs112201678Ensembl.1
Natural variantiVAR_054118545R → H in GAN1. 1 PublicationCorresponds to variant dbSNP:rs746486469Ensembl.1
Natural variantiVAR_010767570C → Y in GAN1. 1 Publication1

Keywords - Diseasei

Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNETi8139
GeneReviewsiGAN
MalaCardsiGAN
MIMi256850 phenotype
OpenTargetsiENSG00000261609
Orphaneti643 Giant axonal neuropathy
PharmGKBiPA28550

Polymorphism and mutation databases

BioMutaiGAN
DMDMi13626745

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001190701 – 597GigaxoninAdd BLAST597

Post-translational modificationi

Ubiquitinated by E3 ubiquitin ligase complex formed by CUL3 and RBX1 and probably targeted for proteasome-independent degradation.1 Publication

Keywords - PTMi

Ubl conjugation

Proteomic databases

EPDiQ9H2C0
MaxQBiQ9H2C0
PaxDbiQ9H2C0
PeptideAtlasiQ9H2C0
PRIDEiQ9H2C0
ProteomicsDBi80525

PTM databases

iPTMnetiQ9H2C0
PhosphoSitePlusiQ9H2C0

Expressioni

Tissue specificityi

Expressed in brain, heart and muscle.1 Publication

Gene expression databases

BgeeiENSG00000261609 Expressed in 206 organ(s), highest expression level in zone of skin
CleanExiHS_GAN
ExpressionAtlasiQ9H2C0 baseline and differential
GenevisibleiQ9H2C0 HS

Organism-specific databases

HPAiCAB011825
HPA049473

Interactioni

Subunit structurei

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).5 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi113800, 211 interactors
IntActiQ9H2C0, 10 interactors
MINTiQ9H2C0
STRINGi9606.ENSP00000248272

Structurei

Secondary structure

1597
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9H2C0
SMRiQ9H2C0
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9H2C0

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini30 – 99BTBPROSITE-ProRule annotationAdd BLAST70
Domaini134 – 236BACKAdd BLAST103
Repeati274 – 326Kelch 1Add BLAST53
Repeati327 – 374Kelch 2Add BLAST48
Repeati376 – 421Kelch 3Add BLAST46
Repeati422 – 468Kelch 4Add BLAST47
Repeati470 – 522Kelch 5Add BLAST53
Repeati528 – 574Kelch 6Add BLAST47

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiKOG4441 Eukaryota
ENOG410XNX8 LUCA
GeneTreeiENSGT00760000118825
HOGENOMiHOG000290709
HOVERGENiHBG005802
InParanoidiQ9H2C0
KOiK10453
OMAiVHYLASE
OrthoDBiEOG091G0FDQ
PhylomeDBiQ9H2C0
TreeFamiTF329218

Family and domain databases

Gene3Di2.120.10.80, 1 hit
InterProiView protein in InterPro
IPR011705 BACK
IPR017096 BTB-kelch_protein
IPR000210 BTB/POZ_dom
IPR015915 Kelch-typ_b-propeller
IPR006652 Kelch_1
IPR030579 KLHL16
IPR011333 SKP1/BTB/POZ_sf
PANTHERiPTHR24412:SF232 PTHR24412:SF232, 1 hit
PfamiView protein in Pfam
PF07707 BACK, 1 hit
PF00651 BTB, 1 hit
PF01344 Kelch_1, 3 hits
PIRSFiPIRSF037037 Kelch-like_protein_gigaxonin, 1 hit
SMARTiView protein in SMART
SM00875 BACK, 1 hit
SM00225 BTB, 1 hit
SM00612 Kelch, 5 hits
SUPFAMiSSF117281 SSF117281, 1 hit
SSF54695 SSF54695, 1 hit
PROSITEiView protein in PROSITE
PS50097 BTB, 1 hit

Sequencei

Sequence statusi: Complete.

Q9H2C0-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAEGSAVSDP QHAARLLRAL SSFREESRFC DAHLVLDGEE IPVQKNILAA
60 70 80 90 100
ASPYIRTKLN YNPPKDDGST YKIELEGISV MVMREILDYI FSGQIRLNED
110 120 130 140 150
TIQDVVQAAD LLLLTDLKTL CCEFLEGCIA AENCIGIRDF ALHYCLHHVH
160 170 180 190 200
YLATEYLETH FRDVSSTEEF LELSPQKLKE VISLEKLNVG NERYVFEAVI
210 220 230 240 250
RWIAHDTEIR KVHMKDVMSA LWVSGLDSSY LREQMLNEPL VREIVKECSN
260 270 280 290 300
IPLSQPQQGE AMLANFKPRG YSECIVTVGG EERVSRKPTA AMRCMCPLYD
310 320 330 340 350
PNRQLWIELA PLSMPRINHG VLSAEGFLFV FGGQDENKQT LSSGEKYDPD
360 370 380 390 400
ANTWTALPPM NEARHNFGIV EIDGMLYILG GEDGEKELIS MECYDIYSKT
410 420 430 440 450
WTKQPDLTMV RKIGCYAAMK KKIYAMGGGS YGKLFESVEC YDPRTQQWTA
460 470 480 490 500
ICPLKERRFG AVACGVAMEL YVFGGVRSRE DAQGSEMVTC KSEFYHDEFK
510 520 530 540 550
RWIYLNDQNL CIPASSSFVY GAVPIGASIY VIGDLDTGTN YDYVREFKRS
560 570 580 590
TGTWHHTKPL LPSDLRRTGC AALRIANCKL FRLQLQQGLF RIRVHSP
Length:597
Mass (Da):67,638
Last modified:March 1, 2001 - v1
Checksum:i4B6ECFA6849880C7
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01075915R → S in GAN1; no effect on binding to TBCB. 2 PublicationsCorresponds to variant dbSNP:rs119485093EnsemblClinVar.1
Natural variantiVAR_05411351A → P in GAN1. 1 PublicationCorresponds to variant dbSNP:rs750258209Ensembl.1
Natural variantiVAR_01076052S → G in GAN1. 1 Publication1
Natural variantiVAR_01076179S → L in GAN1. 1 PublicationCorresponds to variant dbSNP:rs1310137430Ensembl.1
Natural variantiVAR_01076282V → F in GAN1; no effect on binding to TBCB. 2 Publications1
Natural variantiVAR_01568086I → F in GAN1. 1 Publication1
Natural variantiVAR_05411489Y → C in GAN1. 1 Publication1
Natural variantiVAR_073289102I → T Probable disease-associated mutation found in hereditary motor and sensory neuropathy. 1 Publication1
Natural variantiVAR_010763138R → H in GAN1. 1 PublicationCorresponds to variant dbSNP:rs119485092EnsemblClinVar.1
Natural variantiVAR_054115195V → F in GAN1. 1 Publication1
Natural variantiVAR_010764269R → Q in GAN1. 2 PublicationsCorresponds to variant dbSNP:rs759581558EnsemblClinVar.1
Natural variantiVAR_010765309L → R in GAN1. 1 Publication1
Natural variantiVAR_054116315P → L in GAN1. 1 PublicationCorresponds to variant dbSNP:rs144486241EnsemblClinVar.1
Natural variantiVAR_015681368G → R in GAN1. 2 PublicationsCorresponds to variant dbSNP:rs758756818Ensembl.1
Natural variantiVAR_015560423I → T in GAN1. 2 PublicationsCorresponds to variant dbSNP:rs119485091EnsemblClinVar.1
Natural variantiVAR_073290438V → I Probable disease-associated mutation found in hereditary motor and sensory neuropathy. 1 Publication1
Natural variantiVAR_054117474G → R in GAN1. 1 Publication1
Natural variantiVAR_010757486E → K in GAN1. 1 PublicationCorresponds to variant dbSNP:rs119485088EnsemblClinVar.1
Natural variantiVAR_010766545R → C in GAN1; complete loss of binding to TBCB. 2 PublicationsCorresponds to variant dbSNP:rs112201678Ensembl.1
Natural variantiVAR_054118545R → H in GAN1. 1 PublicationCorresponds to variant dbSNP:rs746486469Ensembl.1
Natural variantiVAR_010767570C → Y in GAN1. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF291673 mRNA Translation: AAG35311.1
BC044840 mRNA Translation: AAH44840.1
CCDSiCCDS10935.1
RefSeqiNP_071324.1, NM_022041.3
UniGeneiHs.112569

Genome annotation databases

EnsembliENST00000568107; ENSP00000476795; ENSG00000261609
GeneIDi8139
KEGGihsa:8139
UCSCiuc002fgo.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Inherited peripheral neuropathies mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF291673 mRNA Translation: AAG35311.1
BC044840 mRNA Translation: AAH44840.1
CCDSiCCDS10935.1
RefSeqiNP_071324.1, NM_022041.3
UniGeneiHs.112569

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2PPIX-ray2.40A6-126[»]
3HVEX-ray2.80A/B1-254[»]
ProteinModelPortaliQ9H2C0
SMRiQ9H2C0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113800, 211 interactors
IntActiQ9H2C0, 10 interactors
MINTiQ9H2C0
STRINGi9606.ENSP00000248272

PTM databases

iPTMnetiQ9H2C0
PhosphoSitePlusiQ9H2C0

Polymorphism and mutation databases

BioMutaiGAN
DMDMi13626745

Proteomic databases

EPDiQ9H2C0
MaxQBiQ9H2C0
PaxDbiQ9H2C0
PeptideAtlasiQ9H2C0
PRIDEiQ9H2C0
ProteomicsDBi80525

Protocols and materials databases

DNASUi8139
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000568107; ENSP00000476795; ENSG00000261609
GeneIDi8139
KEGGihsa:8139
UCSCiuc002fgo.4 human

Organism-specific databases

CTDi8139
DisGeNETi8139
EuPathDBiHostDB:ENSG00000261609.3
GeneCardsiGAN
GeneReviewsiGAN
HGNCiHGNC:4137 GAN
HPAiCAB011825
HPA049473
MalaCardsiGAN
MIMi256850 phenotype
605379 gene
neXtProtiNX_Q9H2C0
OpenTargetsiENSG00000261609
Orphaneti643 Giant axonal neuropathy
PharmGKBiPA28550
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4441 Eukaryota
ENOG410XNX8 LUCA
GeneTreeiENSGT00760000118825
HOGENOMiHOG000290709
HOVERGENiHBG005802
InParanoidiQ9H2C0
KOiK10453
OMAiVHYLASE
OrthoDBiEOG091G0FDQ
PhylomeDBiQ9H2C0
TreeFamiTF329218

Enzyme and pathway databases

UniPathwayi
UPA00143

ReactomeiR-HSA-8951664 Neddylation
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation

Miscellaneous databases

ChiTaRSiGAN human
EvolutionaryTraceiQ9H2C0
GeneWikiiGigaxonin
GenomeRNAii8139
PROiPR:Q9H2C0
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000261609 Expressed in 206 organ(s), highest expression level in zone of skin
CleanExiHS_GAN
ExpressionAtlasiQ9H2C0 baseline and differential
GenevisibleiQ9H2C0 HS

Family and domain databases

Gene3Di2.120.10.80, 1 hit
InterProiView protein in InterPro
IPR011705 BACK
IPR017096 BTB-kelch_protein
IPR000210 BTB/POZ_dom
IPR015915 Kelch-typ_b-propeller
IPR006652 Kelch_1
IPR030579 KLHL16
IPR011333 SKP1/BTB/POZ_sf
PANTHERiPTHR24412:SF232 PTHR24412:SF232, 1 hit
PfamiView protein in Pfam
PF07707 BACK, 1 hit
PF00651 BTB, 1 hit
PF01344 Kelch_1, 3 hits
PIRSFiPIRSF037037 Kelch-like_protein_gigaxonin, 1 hit
SMARTiView protein in SMART
SM00875 BACK, 1 hit
SM00225 BTB, 1 hit
SM00612 Kelch, 5 hits
SUPFAMiSSF117281 SSF117281, 1 hit
SSF54695 SSF54695, 1 hit
PROSITEiView protein in PROSITE
PS50097 BTB, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGAN_HUMAN
AccessioniPrimary (citable) accession number: Q9H2C0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: March 1, 2001
Last modified: October 10, 2018
This is version 172 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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