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

Gene ID: 54332, updated on 24-Nov-2020

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
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

Genomic context

See GDAP1 in Genome Data Viewer
Location:
8q21.11
Exon count:
8
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (74350403..74488872)
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

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular response to vitamin D IEA
Inferred from Electronic Annotation
more info
 
mitochondrial fission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial fission IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial fusion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial fusion IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein targeting to mitochondrion IBA
Inferred from Biological aspect of Ancestor
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
cytosol IDA
Inferred from Direct Assay
more info
 
integral component of mitochondrial outer membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleus HDA PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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/Swiss-Prot
    Q8TB36
    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
    Related
    ENSP00000502637.1, ENST00000674806.1
    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
    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
    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
    Related
    ENSP00000502756.1, ENST00000676377.1
    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
    Q8TB36
    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: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017013586.2XP_016869075.2  ganglioside-induced differentiation-associated protein 1 isoform X3

    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
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