Seroatlas · Human Serome Atlas

GAN

Gigaxonin

Also known as: GAN_HUMAN, GAN1, GIG, KLHL16

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9H2C0
Gene
GAN
Ensembl
ENSG00000261609
Chromosome
16
Canonical length
597 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Microtubules

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

597 residues, UniProt reviewed canonical sequence.

>Q9H2C0|GAN
     1  MAEGSAVSDP QHAARLLRAL SSFREESRFC DAHLVLDGEE IPVQKNILAA ASPYIRTKLN
    61  YNPPKDDGST YKIELEGISV MVMREILDYI FSGQIRLNED TIQDVVQAAD LLLLTDLKTL
   121  CCEFLEGCIA AENCIGIRDF ALHYCLHHVH YLATEYLETH FRDVSSTEEF LELSPQKLKE
   181  VISLEKLNVG NERYVFEAVI RWIAHDTEIR KVHMKDVMSA LWVSGLDSSY LREQMLNEPL
   241  VREIVKECSN IPLSQPQQGE AMLANFKPRG YSECIVTVGG EERVSRKPTA AMRCMCPLYD
   301  PNRQLWIELA PLSMPRINHG VLSAEGFLFV FGGQDENKQT LSSGEKYDPD ANTWTALPPM
   361  NEARHNFGIV EIDGMLYILG GEDGEKELIS MECYDIYSKT WTKQPDLTMV RKIGCYAAMK
   421  KKIYAMGGGS YGKLFESVEC YDPRTQQWTA ICPLKERRFG AVACGVAMEL YVFGGVRSRE
   481  DAQGSEMVTC KSEFYHDEFK RWIYLNDQNL CIPASSSFVY GAVPIGASIY VIGDLDTGTN
   541  YDYVREFKRS TGTWHHTKPL LPSDLRRTGC AALRIANCKL FRLQLQQGLF RIRVHSP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GAN can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.26
Highest tissue expression
24 nTPM

Expression across tissuesHPA

Tissue

  • skin: 24 nTPM
  • esophagus: 5.1 nTPM
  • vagina: 4.1 nTPM
  • cerebral cortex: 3.1 nTPM
  • cervix: 3.1 nTPM
  • amygdala: 3 nTPM

Single-cell type

  • urothelial cells: 627 nCPM
  • suprabasal keratinocytes: 295 nCPM
  • basal keratinocytes: 248 nCPM
  • bergmann glia: 245 nCPM
  • astrocytes: 235 nCPM
  • prostatic hillock cells: 210 nCPM

Immune cell

  • naive CD8 T-cell: 0.9 nTPM
  • NK-cell: 0.9 nTPM
  • plasmacytoid DC: 0.9 nTPM
  • gdT-cell: 0.8 nTPM
  • memory CD4 T-cell: 0.8 nTPM
  • basophil: 0.7 nTPM

Brain region

  • medulla oblongata: 25 nTPM
  • hypothalamus: 25 nTPM
  • white matter: 24 nTPM
  • spinal cord: 24 nTPM
  • thalamus: 24 nTPM
  • midbrain: 24 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GAN.

Disease | AllUniProt

Conditions GAN is implicated in, by any mechanism.

  • Giant axonal neuropathy 1, autosomal recessive (GAN1) MIM:256850

Disease | GeneticClinVar

59 pathogenic / likely-pathogenic of 885 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.5
gnomAD pLI
0.02
gnomAD missense Z
-0.73
DepMap mean gene effect
-0.06
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of GAN in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GAN as an antibody target. Whether an autoantibody or antibody against GAN could matter depends on whether native GAN is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GAN is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label GAN as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GAN. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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