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GAN gigaxonin [ Homo sapiens (human) ]

Gene ID: 8139, updated on 8-May-2016
Official Symbol
GANprovided by HGNC
Official Full Name
gigaxoninprovided by HGNC
Primary source
HGNC:HGNC:4137
See related
Ensembl:ENSG00000261609 HPRD:05647; MIM:605379
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GAN1; KLHL16
Summary
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]
Orthologs
Location:
16q24.1
Exon count:
11
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (81314966..81380198)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (81348571..81413803)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene polycystin 1 like 2 (gene/pseudogene) Neighboring gene beta-carotene oxygenase 1 Neighboring gene microRNA 4720 Neighboring gene peptidylprolyl isomerase A (cyclophilin A) pseudogene Neighboring gene c-Maf inducing protein

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Giant axonal neuropathy
MedGen: C1850386 OMIM: 256850 GeneReviews: Giant Axonal Neuropathy
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NHGRI GWAS Catalog

Description
Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci.
NHGRI GWA Catalog
  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
    Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
  • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
    Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ38059

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to ubiquitin-protein transferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein ubiquitination involved in ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
Cul3-RING ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
gigaxonin
Names
kelch-like family member 16
kelch-like protein 16

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009007.1 RefSeqGene

    Range
    5001..70233
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_242

mRNA and Protein(s)

  1. NM_022041.3NP_071324.1  gigaxonin

    See identical proteins and their annotated locations for NP_071324.1

    Status: REVIEWED

    Source sequence(s)
    AC092139, AK095378, BC044840
    Consensus CDS
    CCDS10935.1
    UniProtKB/Swiss-Prot
    Q9H2C0
    UniProtKB/TrEMBL
    A0A0S2Z4W2, B3KTC3
    Related
    ENSP00000476795, OTTHUMP00000174972, ENST00000568107, OTTHUMT00000269050
    Conserved Domains (6) summary
    smart00612
    Location:328374
    Kelch; Kelch domain
    PHA03098
    Location:27502
    PHA03098; kelch-like protein; Provisional
    pfam00651
    Location:20125
    BTB; BTB/POZ domain
    pfam01344
    Location:363408
    Kelch_1; Kelch motif
    cd14735
    Location:129187
    BACK_Kelch; BTB-And-C-terminal-Kelch (BACK) domain of Kelch-like proteins
    sd00038
    Location:316360
    Kelch; KELCH repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

    Range
    81314966..81380198
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    82759876..82825083
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)