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    GAN gigaxonin [ Homo sapiens (human) ]

    Gene ID: 8139, updated on 10-Oct-2023

    Summary

    Official Symbol
    GANprovided by HGNC
    Official Full Name
    gigaxoninprovided by HGNC
    Primary source
    HGNC:HGNC:4137
    See related
    Ensembl:ENSG00000261609 MIM:605379; AllianceGenome:HGNC:4137
    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
    GIG; 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]
    Expression
    Broad expression in skin (RPKM 5.8), esophagus (RPKM 2.0) and 23 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See GAN in Genome Data Viewer
    Location:
    16q23.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (81314962..81390809)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (87375728..87451557)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (81348567..81424414)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81150474-81151032 Neighboring gene RNA, U6 small nuclear 1191, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81171151-81171768 Neighboring gene Sharpr-MPRA regulatory region 3111 Neighboring gene polycystin 1 like 2 (gene/pseudogene) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:81191716-81192216 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:81246022-81246522 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:81255488-81255706 Neighboring gene beta-carotene oxygenase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11178 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7753 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7754 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7755 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:81420479-81420673 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81430852-81431402 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81431403-81431953 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11179 Neighboring gene Sharpr-MPRA regulatory region 12949 Neighboring gene microRNA 4720 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81466113-81467024 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81467025-81467934 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81477254-81477786 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7758 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7757 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7756 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7759 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81479951-81480716 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81480717-81481480 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81482247-81483010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11182 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81489297-81489981 Neighboring gene Sharpr-MPRA regulatory region 2768 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81491353-81492038 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81497377-81497916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:81503436-81503936 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11183 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11184 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11185 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81527049-81527782 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81530785-81531426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11188 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11189 Neighboring gene c-Maf inducing protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81546458-81547288 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81549519-81550168 Neighboring gene peptidylprolyl isomerase A pseudogene 51 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:81551802-81552499 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81553011-81553629 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:81565885-81566386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:81566387-81566886 Neighboring gene microRNA 7854

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Giant axonal neuropathy 1
    MedGen: C1850386 OMIM: 256850 GeneReviews: GAN-Related Neurodegeneration
    Compare labs

    EBI GWAS Catalog

    Description
    Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ38059

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of Cul3-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    gigaxonin
    Names
    epididymis secretory sperm binding protein
    kelch-like family member 16
    kelch-like protein 16

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001377486.1NP_001364415.1  gigaxonin isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC009148, AC092139
      Conserved Domains (2) summary
      PHA03098
      Location:86289
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:103147
      Kelch; KELCH repeat [structural motif]
    2. NM_022041.4NP_071324.1  gigaxonin isoform 1

      See identical proteins and their annotated locations for NP_071324.1

      Status: REVIEWED

      Source sequence(s)
      AC092139, BC044840, DR002770
      Consensus CDS
      CCDS10935.1
      UniProtKB/Swiss-Prot
      Q9H2C0
      UniProtKB/TrEMBL
      A0A0S2Z4W2, B3KTC3
      Related
      ENSP00000497351.1, ENST00000648994.2
      Conserved Domains (4) summary
      PHA03098
      Location:27502
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:316360
      Kelch; KELCH repeat [structural motif]
      cd18245
      Location:16126
      BTB_POZ_KLHL16_gigaxonin; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in gigaxonin
      cd18455
      Location:130226
      BACK_KLHL16_gigaxonin; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 16 (KLHL16)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      81314962..81390809
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      87375728..87451557
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)