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

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: mouse all
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Genomic context

Location:: 8q21.11

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (74350403..74488872)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (74779703..74918431)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (75262638..75401107)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genetic and clinical profile of 15 Chinese families with GDAP1-related Charcot-Marie-Tooth disease and identification of H256R as a frequent mutation.
Title: Genetic and clinical profile of 15 Chinese families with GDAP1-related Charcot-Marie-Tooth disease and identification of H256R as a frequent mutation.
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.
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.
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.
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.
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.
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.
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.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (66)

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

Associated conditions

Description	Tests
Charcot-Marie-Tooth disease axonal type 2K MedGen: C1842983 OMIM: 607831 GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview	Compare labs
Charcot-Marie-Tooth disease recessive intermediate A MedGen: C1842197 OMIM: 608340 GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview, GDAP1-Related Hereditary Motor and Sensory Neuropathy	Compare labs
Charcot-Marie-Tooth disease type 4A MedGen: C1859198 OMIM: 214400 GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview, GDAP1-Related Hereditary Motor and Sensory Neuropathy	Compare labs
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive MedGen: C1843183 OMIM: 607706 GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH18434 (e-PCR)
- UniSTS:27659

MARC_17537-17538:1017261090:1 (e-PCR)
- UniSTS:268335

A004Y31 (e-PCR)
- UniSTS:83002

RH12692 (e-PCR)
- UniSTS:29032

RH91794 (e-PCR)
- UniSTS:86207

GDAP1_9778 (e-PCR)
- UniSTS:468435

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 more info	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	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in nucleus	HDA more info	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

NG_008787.3 RefSeqGene

Range

34254..50981

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_244

mRNA and Protein(s)

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]
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
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 ...
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
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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

74350403..74488872

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

NC_060932.1 Alternate T2T-CHM13v2.0

Range

74779703..74918431

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054360716.1 → XP_054216691.1 ganglioside-induced differentiation-associated protein 1 isoform X1
XM_054360715.1 → XP_054216690.1 ganglioside-induced differentiation-associated protein 1 isoform X2

UniProtKB/TrEMBL

B4DIH2