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    GDAP1 ganglioside induced differentiation associated protein 1 [ Homo sapiens (human) ]

    Gene ID: 54332, updated on 4-Sep-2016
    Official Symbol
    GDAP1provided by HGNC
    Official Full Name
    ganglioside induced differentiation associated protein 1provided by HGNC
    Primary source
    HGNC:HGNC:15968
    See related
    Ensembl:ENSG00000104381 HPRD:05963; MIM:606598; Vega:OTTHUMG00000164509
    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
    CMT4; CMT4A; CMTRIA
    Summary
    This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012]
    Orthologs
    Location:
    8q21.11
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 8 NC_000008.11 (74349251..74488867)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (75262618..75279345)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375903 Neighboring gene junctophilin 1 Neighboring gene microRNA 5681a Neighboring gene microRNA 5681b Neighboring gene uncharacterized LOC105375904 Neighboring gene MIR2052 host gene Neighboring gene poly(rC) binding protein 2 pseudogene 2

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies protein quantitative trait loci (pQTLs).
    NHGRI GWA Catalog
    Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    glutathione transferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    glutathione metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    mitochondrial fission IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial fusion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein targeting to mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to retinoic acid IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    integral component of mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    ganglioside-induced differentiation-associated protein 1
    Names
    Charcot-Marie-Tooth neuropathy 4A

    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_008787.3 RefSeqGene

      Range
      34254..50981
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001040875.2NP_001035808.1  ganglioside-induced differentiation-associated protein 1 isoform b

      See identical proteins and their annotated locations for NP_001035808.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate in-frame exon and uses an alternate splice site in the 5' coding region, and uses a downstream start codon, compared to variant 1. Isoform b has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AB551556, BC024939, DB505741
      Consensus CDS
      CCDS47877.1
      UniProtKB/Swiss-Prot
      Q8TB36
      Related
      ENSP00000417006, OTTHUMP00000226875, ENST00000434412, OTTHUMT00000379062
      Conserved Domains (3) summary
      cd10303
      Location:111221
      GST_C_GDAP1; C-terminal, alpha helical domain of Ganglioside-induced differentiation-associated protein 1
      COG0625
      Location:1224
      GstA; Glutathione S-transferase [Posttranslational modification, protein turnover, chaperones]
      cl00388
      Location:130
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
    2. NM_018972.2NP_061845.2  ganglioside-induced differentiation-associated protein 1 isoform a

      See identical proteins and their annotated locations for NP_061845.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest variant and encodes the longer isoform (a).
      Source sequence(s)
      AC103952, DB505741, Y17849
      Consensus CDS
      CCDS34911.1
      UniProtKB/Swiss-Prot
      Q8TB36
      Related
      ENSP00000220822, OTTHUMP00000226874, ENST00000220822, OTTHUMT00000379061
      Conserved Domains (3) summary
      cd10303
      Location:179289
      GST_C_GDAP1; C-terminal, alpha helical domain of Ganglioside-induced differentiation-associated protein 1
      COG0625
      Location:26292
      GstA; Glutathione S-transferase [Posttranslational modification, protein turnover, chaperones]
      cd03052
      Location:2698
      GST_N_GDAP1; GST_N family, Ganglioside-induced differentiation-associated protein 1 (GDAP1) subfamily; GDAP1 was originally identified as a highly expressed gene at the differentiated stage of GD3 synthase-transfected cells. More recently, mutations in GDAP1 have ...

    RNA

    1. NR_046346.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice junction at the 3' end of an exon compared to variant 1, that causes a frameshift. The putative ORF is overlapped by a uORF with a strong Kozak signal, so it is not likely that this transcript is translated.
      Source sequence(s)
      AB551556, AK295594, DB505741

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

      Range
      74349251..74488867
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017013585.1XP_016869074.1  

    2. XM_011517551.2XP_011515853.1  

      Conserved Domains (3) summary
      cd10303
      Location:277387
      GST_C_GDAP1; C-terminal, alpha helical domain of Ganglioside-induced differentiation-associated protein 1
      COG0625
      Location:182390
      GstA; Glutathione S-transferase [Posttranslational modification, protein turnover, chaperones]
      cd03052
      Location:182254
      GST_N_GDAP1; GST_N family, Ganglioside-induced differentiation-associated protein 1 (GDAP1) subfamily; GDAP1 was originally identified as a highly expressed gene at the differentiated stage of GD3 synthase-transfected cells. More recently, mutations in GDAP1 have ...
    3. XM_017013586.1XP_016869075.1  

    4. XM_011517552.2XP_011515854.1  

      See identical proteins and their annotated locations for XP_011515854.1

      UniProtKB/TrEMBL
      B4DIH2
      Conserved Domains (2) summary
      cd10303
      Location:70180
      GST_C_GDAP1; C-terminal, alpha helical domain of Ganglioside-induced differentiation-associated protein 1
      COG0625
      Location:96183
      GstA; Glutathione S-transferase [Posttranslational modification, protein turnover, chaperones]

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

      Range
      75314604..75331330
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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