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

Gene ID: 54332, updated on 26-May-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:
6
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 8 NC_000008.11 (74349251..74367110)
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 uncharacterized LOC101926965 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 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p2 Primary Assembly

    Range
    74349251..74367110
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517551.1XP_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 ...
  2. XM_011517552.1XP_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)