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

Gene ID: 54332, updated on 11-Apr-2024

Summary

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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
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. GDAP1 loss of function inhibits the mitochondrial pyruvate dehydrogenase complex by altering the actin cytoskeleton. Wolf C, et al. Commun Biol, 2022 Jun 3. PMID 35662277, Free PMC Article
  2. Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1. Sutinen A, et al. FEBS Open Bio, 2022 Jul. PMID 35509130, Free PMC Article
  3. Novel compound heterozygous missense mutations in GDAP1 cause Charcot-Marie-Tooth type 4A. Xue H, et al. J Genet, 2021. PMID 34470922
  4. GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease. Figueiredo FB, et al. Neuromuscul Disord, 2021 Jun. PMID 33903021
  5. [Identification of a novel c.1A>G variant of GDAP1 gene in a pedigree affected with autosomal recessive fibula atrophy]. Liu C, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2020 Nov 10. PMID 33179230

See all (103) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Homozygous Mutations in GDAP1 and MFN2 Genes Resulted in Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in Consanguineous Pakistani Families.
    Title: Homozygous Mutations in GDAP1 and MFN2 Genes Resulted in Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in Consanguineous Pakistani Families.
  2. Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites.
    Title: Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites.
  3. Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1.
    Title: Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1.
  4. GDAP1 loss of function inhibits the mitochondrial pyruvate dehydrogenase complex by altering the actin cytoskeleton.
    Title: GDAP1 loss of function inhibits the mitochondrial pyruvate dehydrogenase complex by altering the actin cytoskeleton.
  5. Novel compound heterozygous missense mutations in GDAP1 cause Charcot-Marie-Tooth type 4A.
    Title: Novel compound heterozygous missense mutations in GDAP1 cause Charcot-Marie-Tooth type 4A.
  6. GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease.
    Title: GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease.
  7. Identification and functional characterization of novel GDAP1 variants in Chinese patients with Charcot-Marie-Tooth disease.
    Title: Identification and functional characterization of novel GDAP1 variants in Chinese patients with Charcot-Marie-Tooth disease.
  8. Mutations in GDAP1 Influence Structure and Function of the Trans-Golgi Network.
    Title: Mutations in GDAP1 Influence Structure and Function of the Trans-Golgi Network.
  9. Mitochondria-lysosome membrane contacts are defective in GDAP1-related Charcot-Marie-Tooth disease.
    Title: Mitochondria-lysosome membrane contacts are defective in GDAP1-related Charcot-Marie-Tooth disease.
  10. Structural and functional divergence of GDAP1 from the glutathione S-transferase superfamily.
    Title: Structural and functional divergence of GDAP1 from the glutathione S-transferase superfamily.
Submit: New GeneRIF Correction See all GeneRIFs (65)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
EBI GWAS Catalog
Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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

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

NCBI Reference Sequences (RefSeq)

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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_001040875.4 → NP_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:111 → 221
    GST_C_GDAP1; C-terminal, alpha helical domain of Ganglioside-induced differentiation-associated protein 1
    cl00388
    Location:1 → 30
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
    cl25459
    Location:2 → 76
    GstA; Glutathione S-transferase [Posttranslational modification, protein turnover, chaperones]

  2. NM_001362929.2 → NP_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:70 → 180
    GST_C_GDAP1; C-terminal, alpha helical domain of Ganglioside-induced differentiation-associated protein 1

  3. NM_001362930.2 → NP_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:121 → 231
    GST_C_GDAP1; C-terminal, alpha helical domain of Ganglioside-induced differentiation-associated protein 1
    cd03052
    Location:26 → 98
    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_001362931.2 → NP_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:26 → 179
    GstA; Glutathione S-transferase [Posttranslational modification, protein turnover, chaperones]
    cd03052
    Location:26 → 98
    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:179 → 236
    GST_C_family; C-terminal, alpha helical domain of the Glutathione S-transferase family

  5. NM_001362932.2 → NP_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:70 → 180
    GST_C_GDAP1; C-terminal, alpha helical domain of Ganglioside-induced differentiation-associated protein 1

  6. NM_018972.4 → NP_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:179 → 289
    GST_C_GDAP1; C-terminal, alpha helical domain of Ganglioside-induced differentiation-associated protein 1
    cd03052
    Location:26 → 98
    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_017013586.3 → XP_016869075.2  ganglioside-induced differentiation-associated protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A6Q8PFF4
    Related
    ENSP00000501785.1, ENST00000675633.1
    Conserved Domains (3) summary
    COG0625
    Location:26 → 179
    GstA; Glutathione S-transferase [Posttranslational modification, protein turnover, chaperones]
    cd03052
    Location:26 → 98
    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:179 → 193
    GST_C_family; C-terminal, alpha helical domain of the Glutathione S-transferase family

  2. XM_047421902.1 → XP_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_054360716.1 → XP_054216691.1  ganglioside-induced differentiation-associated protein 1 isoform X1

  2. XM_054360715.1 → XP_054216690.1  ganglioside-induced differentiation-associated protein 1 isoform X2

    UniProtKB/TrEMBL
    B4DIH2
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TB36.3 GenPept UniProtKB/Swiss-Prot:Q8TB36

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