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Aliases for GDAP1L1 Gene

Aliases for GDAP1L1 Gene

  • Ganglioside Induced Differentiation Associated Protein 1 Like 1 2 3 5
  • GDAP1-L1 3 4
  • Ganglioside-Induced Differentiation-Associated Protein 1-Like 1 3
  • Ganglioside Induced Differentiation Associated Protein 1-Like 1 2
  • DJ995J12.1.1 3
  • DJ881L22.1 3

External Ids for GDAP1L1 Gene

Previous GeneCards Identifiers for GDAP1L1 Gene

  • GC20P042604
  • GC20P043514
  • GC20P043561
  • GC20P042309
  • GC20P042875
  • GC20P039613

Summaries for GDAP1L1 Gene

Entrez Gene Summary for GDAP1L1 Gene

  • The ganglioside GD3 synthase causes cell differentiation with neurite sprouting when transfected into the mouse neuroblastoma cell line Neuro2a. After differentiation, the expression of several genes is upregulated, including one that encodes a protein termed ganglioside-induced differentiation-associated protein 1 (Gdap1). A similar gene was found in humans, and mutations in the human gene are associated with Charcot-Marie-Tooth type 4A disease. The protein encoded by this gene is similar in sequence to the human GDAP1 protein. Several transcript variants encoding different isoforms, as well as a noncoding transcript variant, have been found for this gene. [provided by RefSeq, Feb 2012]

GeneCards Summary for GDAP1L1 Gene

GDAP1L1 (Ganglioside Induced Differentiation Associated Protein 1 Like 1) is a Protein Coding gene. Diseases associated with GDAP1L1 include Charcot-Marie-Tooth Disease and Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive. An important paralog of this gene is GDAP1.

Additional gene information for GDAP1L1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GDAP1L1 Gene

Genomics for GDAP1L1 Gene

GeneHancer (GH) Regulatory Elements for GDAP1L1 Gene

Promoters and enhancers for GDAP1L1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J044246 Promoter/Enhancer 1.2 EPDnew Ensembl 650.7 +0.3 324 0.9 MXI1 USF1 SIN3A ETS1 ZNF335 ZNF664 GLIS2 POLR2A ZNF366 ZNF143 GDAP1L1 OSER1 GC20M044290
GH20J044248 Enhancer 1 ENCODE 650.7 +1.2 1227 0.1 MLX ZFP64 ARID4B SIN3A ZNF48 ETS1 SLC30A9 ZNF143 ZFP91 NFKBIZ GDAP1L1 GC20M044290
GH20J044234 Promoter 0.8 EPDnew 650.4 -12.3 -12300 0.1 ATF4 CEBPA CEBPB CEBPG GDAP1L1 OSER1-DT
GH20J044640 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13.7 +399.8 399838 12.5 HDGF PKNOX1 SMAD1 ZFP64 SIN3A DMAP1 SLC30A9 ZNF213 ZNF143 FOS ADA GC20M044554 GDAP1L1 KCNK15 PKIG WISP2 SYS1 PIGT ENSG00000132832 OSER1
GH20J044216 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 0.3 -28.3 -28260 3.7 ARID4B ZNF48 ARID2 ZNF143 RUNX3 KLF13 DEK SP5 ZC3H11A REST OSER1 SRSF6 FITM2 LINC01430 LINC01620 OSER1-DT JPH2 GDAP1L1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GDAP1L1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GDAP1L1 gene promoter:
  • NRSF form 2
  • NRSF form 1
  • c-Myb
  • GATA-1
  • HNF-4alpha2
  • COUP
  • COUP-TF1
  • HNF-4alpha1

Genomic Locations for GDAP1L1 Gene

Genomic Locations for GDAP1L1 Gene
33,819 bases
Plus strand
33,127 bases
Plus strand

Genomic View for GDAP1L1 Gene

Genes around GDAP1L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GDAP1L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GDAP1L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GDAP1L1 Gene

Proteins for GDAP1L1 Gene

  • Protein details for GDAP1L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Ganglioside-induced differentiation-associated protein 1-like 1
    Protein Accession:
    Secondary Accessions:
    • B7Z621
    • Q5TE60
    • Q68CW7
    • Q9BQJ7
    • Q9BQV4
    • Q9BWJ4
    • Q9H3Y2
    • Q9H4G5

    Protein attributes for GDAP1L1 Gene

    367 amino acids
    Molecular mass:
    41973 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for GDAP1L1 Gene


neXtProt entry for GDAP1L1 Gene

Post-translational modifications for GDAP1L1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GDAP1L1 Gene

Domains & Families for GDAP1L1 Gene

Gene Families for GDAP1L1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the GST superfamily.
  • Belongs to the GST superfamily.
genes like me logo Genes that share domains with GDAP1L1: view

Function for GDAP1L1 Gene

Phenotypes From GWAS Catalog for GDAP1L1 Gene

Gene Ontology (GO) - Molecular Function for GDAP1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004364 glutathione transferase activity IBA --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with GDAP1L1: view
genes like me logo Genes that share phenotypes with GDAP1L1: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GDAP1L1 Gene

Localization for GDAP1L1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GDAP1L1 gene
Compartment Confidence
cytosol 2
mitochondrion 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GDAP1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GDAP1L1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GDAP1L1 Gene

Pathways & Interactions for GDAP1L1 Gene

SuperPathways for GDAP1L1 Gene

No Data Available

Interacting Proteins for GDAP1L1 Gene

Gene Ontology (GO) - Biological Process for GDAP1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006749 glutathione metabolic process IBA --
genes like me logo Genes that share ontologies with GDAP1L1: view

No data available for Pathways by source and SIGNOR curated interactions for GDAP1L1 Gene

Drugs & Compounds for GDAP1L1 Gene

No Compound Related Data Available

Transcripts for GDAP1L1 Gene

Unigene Clusters for GDAP1L1 Gene

Ganglioside induced differentiation associated protein 1-like 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GDAP1L1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c
SP1: - -
SP2: - - - - -
SP3: - - -
SP4: - - - -
SP5: -

Relevant External Links for GDAP1L1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GDAP1L1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GDAP1L1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GDAP1L1 Gene

This gene is overexpressed in Brain - Cortex (x6.7), Brain - Frontal Cortex (BA9) (x6.1), Brain - Anterior cingulate cortex (BA24) (x5.7), Brain - Cerebellum (x4.3), Brain - Amygdala (x4.3), and Brain - Cerebellar Hemisphere (x4.2).

Protein differential expression in normal tissues from HIPED for GDAP1L1 Gene

This gene is overexpressed in Fetal Brain (33.0), Brain (20.7), and Frontal cortex (12.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GDAP1L1 Gene

Protein tissue co-expression partners for GDAP1L1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GDAP1L1 Gene:


SOURCE GeneReport for Unigene cluster for GDAP1L1 Gene:


Evidence on tissue expression from TISSUES for GDAP1L1 Gene

  • Nervous system(4.9)
  • Blood(4.3)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with GDAP1L1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GDAP1L1 Gene

Orthologs for GDAP1L1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GDAP1L1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GDAP1L1 34 33
  • 99.73 (n)
(Bos Taurus)
Mammalia GDAP1L1 34 33
  • 93.91 (n)
(Canis familiaris)
Mammalia GDAP1L1 34 33
  • 93.91 (n)
(Mus musculus)
Mammalia Gdap1l1 16 34 33
  • 92.19 (n)
(Rattus norvegicus)
Mammalia Gdap1l1 33
  • 91.07 (n)
(Monodelphis domestica)
Mammalia GDAP1L1 34
  • 91 (a)
(Ornithorhynchus anatinus)
Mammalia GDAP1L1 34
  • 64 (a)
(Gallus gallus)
Aves GDAP1L1 34 33
  • 81.93 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia gdap1l1 33
  • 74.18 (n)
(Danio rerio)
Actinopterygii gdap1l1 34 33
  • 75.71 (n)
Dr.19824 33
fruit fly
(Drosophila melanogaster)
Insecta CG4623 34
  • 26 (a)
Species where no ortholog for GDAP1L1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GDAP1L1 Gene

Gene Tree for GDAP1L1 (if available)
Gene Tree for GDAP1L1 (if available)
Evolutionary constrained regions (ECRs) for GDAP1L1: view image

Paralogs for GDAP1L1 Gene

Paralogs for GDAP1L1 Gene

(1) SIMAP similar genes for GDAP1L1 Gene using alignment to 7 proteins:

  • B7Z4H3_HUMAN
  • H0Y6A7_HUMAN
  • Q5TE58_HUMAN
  • Q5TE61_HUMAN
  • Q71U70_HUMAN
genes like me logo Genes that share paralogs with GDAP1L1: view

Variants for GDAP1L1 Gene

Sequence variations from dbSNP and Humsavar for GDAP1L1 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs754794599 A colorectal cancer sample 44,258,481(+) C/A/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant, synonymous_variant
rs1000262789 -- 44,255,982(+) C/A/T intron_variant
rs1000368666 -- 44,250,664(+) T/C intron_variant
rs1000390906 -- 44,267,607(+) T/A/C intron_variant
rs1000485882 -- 44,268,060(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GDAP1L1 Gene

Variant ID Type Subtype PubMed ID
nsv586065 CNV gain 21841781
nsv3388 CNV insertion 18451855
nsv1057847 CNV loss 25217958
esv3645907 CNV gain 21293372
esv3645906 CNV gain 21293372
esv3645905 CNV loss 21293372
esv28837 CNV loss 19812545

Variation tolerance for GDAP1L1 Gene

Residual Variation Intolerance Score: 57.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.33; 41.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GDAP1L1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GDAP1L1 Gene

Disorders for GDAP1L1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for GDAP1L1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease
  • charcot marie tooth muscular atrophy
neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive
  • chn
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GDAP1L1

genes like me logo Genes that share disorders with GDAP1L1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GDAP1L1 Gene

Publications for GDAP1L1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 58
  4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P … Vidal M (Genomics 2007) 3 58
  5. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4 58

Products for GDAP1L1 Gene

Sources for GDAP1L1 Gene

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