U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 54332, updated on 17-Jun-2024

    Summary

    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 MIM:606598; AllianceGenome:HGNC:15968
    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]
    Expression
    Broad expression in brain (RPKM 21.7), adrenal (RPKM 4.4) and 14 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GDAP1 in Genome Data Viewer
    Location:
    8q21.11
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (74350403..74488872)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (74779703..74918431)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (75262638..75401107)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375903 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27541 Neighboring gene MPRA-validated peak7074 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:75193255-75194454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19299 Neighboring gene junctophilin 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:75213303-75213804 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:75232842-75233732 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19300 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27542 Neighboring gene microRNA 5681a Neighboring gene microRNA 5681b Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:75513719-75514918 Neighboring gene MIR2052 host gene Neighboring gene PCBP2 pseudogene 2

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to vitamin D IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitochondrial fission IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitochondrial fission IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in mitochondrial fusion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitochondrial fusion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein targeting to mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein targeting to mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to retinoic acid IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in membrane HDA PubMed 
    is_active_in mitochondrial outer membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus HDA PubMed 
    located_in peroxisomal membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    ganglioside-induced differentiation-associated protein 1
    Names
    Charcot-Marie-Tooth neuropathy 4A

    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_008787.3 RefSeqGene

      Range
      34254..50981
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_244

    mRNA and Protein(s)

    1. NM_001040875.4NP_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, AW016619, BC024939, DB505741
      Consensus CDS
      CCDS47877.1
      UniProtKB/TrEMBL
      A0A6Q8PFG4
      Related
      ENSP00000502437.1, ENST00000674865.1
      Conserved Domains (3) summary
      cd10303
      Location:111221
      GST_C_GDAP1; C-terminal, alpha helical domain of Ganglioside-induced differentiation-associated protein 1
      cl00388
      Location:130
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
      cl25459
      Location:276
      GstA; Glutathione S-transferase [Posttranslational modification, protein turnover, chaperones]
    2. NM_001362929.2NP_001349858.1  ganglioside-induced differentiation-associated protein 1 isoform c

      Status: REVIEWED

      Source sequence(s)
      AB551556, AK295594, AW016619, DB505741
      Consensus CDS
      CCDS94319.1
      UniProtKB/TrEMBL
      B4DIH2
      Conserved Domains (1) summary
      cd10303
      Location:70180
      GST_C_GDAP1; C-terminal, alpha helical domain of Ganglioside-induced differentiation-associated protein 1
    3. NM_001362930.2NP_001349859.1  ganglioside-induced differentiation-associated protein 1 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC103952, AU100305, AW016619, BP308343
      Consensus CDS
      CCDS94318.1
      UniProtKB/TrEMBL
      A0A6Q8PEZ4, A0A6Q8PGU0
      Related
      ENSP00000501568.1, ENST00000675928.1
      Conserved Domains (2) summary
      cd10303
      Location:121231
      GST_C_GDAP1; C-terminal, alpha helical domain of Ganglioside-induced differentiation-associated protein 1
      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 ...
    4. NM_001362931.2NP_001349860.1  ganglioside-induced differentiation-associated protein 1 isoform e

      Status: REVIEWED

      Source sequence(s)
      AC102802, AC103952, AK292572, AW274431, DB505741, Y17849
      Consensus CDS
      CCDS94317.1
      UniProtKB/TrEMBL
      A0A6Q8PH97, A0A6Q8PHC1
      Related
      ENSP00000502638.1, ENST00000676207.1
      Conserved Domains (3) summary
      COG0625
      Location:26179
      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 ...
      cl02776
      Location:179236
      GST_C_family; C-terminal, alpha helical domain of the Glutathione S-transferase family
    5. NM_001362932.2NP_001349861.1  ganglioside-induced differentiation-associated protein 1 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC103952, AW016619, AW845711, BG291928, CB178744, DB442768, DB505741
      Consensus CDS
      CCDS94319.1
      UniProtKB/TrEMBL
      B4DIH2
      Conserved Domains (1) summary
      cd10303
      Location:70180
      GST_C_GDAP1; C-terminal, alpha helical domain of Ganglioside-induced differentiation-associated protein 1
    6. NM_018972.4NP_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, AK292572, AW016619, DB505741, Y17849
      Consensus CDS
      CCDS34911.1
      UniProtKB/Swiss-Prot
      A8K957, E7FJF3, E7FJF4, Q8TB36
      UniProtKB/TrEMBL
      A0A6Q8PH79
      Related
      ENSP00000220822.7, ENST00000220822.12
      Conserved Domains (2) summary
      cd10303
      Location:179289
      GST_C_GDAP1; C-terminal, alpha helical domain of Ganglioside-induced differentiation-associated protein 1
      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 ...

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      74350403..74488872
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017013586.3XP_016869075.2  ganglioside-induced differentiation-associated protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A6Q8PFF4
      Related
      ENSP00000501785.1, ENST00000675633.1
      Conserved Domains (3) summary
      COG0625
      Location:26179
      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 ...
      cl02776
      Location:179193
      GST_C_family; C-terminal, alpha helical domain of the Glutathione S-transferase family
    2. XM_047421902.1XP_047277858.1  ganglioside-induced differentiation-associated protein 1 isoform X2

      UniProtKB/TrEMBL
      B4DIH2
      Related
      ENSP00000502637.1, ENST00000674806.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      74779703..74918431
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360716.1XP_054216691.1  ganglioside-induced differentiation-associated protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A6Q8PFF4
    2. XM_054360715.1XP_054216690.1  ganglioside-induced differentiation-associated protein 1 isoform X2

      UniProtKB/TrEMBL
      B4DIH2