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 t... See more...

Aliases for GDAP1L1 Gene

Aliases for GDAP1L1 Gene

  • Ganglioside Induced Differentiation Associated Protein 1 Like 1 2 3 5
  • Ganglioside-Induced Differentiation-Associated Protein 1-Like 1 3 4
  • GDAP1-L1 3 4
  • Ganglioside Induced Differentiation Associated Protein 1-Like 1 2
  • DJ995J12.1.1 3
  • DJ881L22.1 3
  • GDAP1L1 5

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, Type 4A and Spinocerebellar Ataxia 36. An important paralog of this gene is GDAP1.

Additional gene information for GDAP1L1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GDAP1L1 Gene

Genomics for GDAP1L1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GDAP1L1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
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 1.6 EPDnew Ensembl ENCODE 250.7 +0.5 502 1.6 MXD4 CEBPA ETS1 ZFP64 CTCF HOMEZ KDM6A THAP11 SIN3A REST GDAP1L1 OSER1 HSALNG0130298 FITM2
GH20J044234 Promoter 0.6 EPDnew 250.4 -12.3 -12300 0.1 CEBPA CEBPB CEBPG ATF4 ATF3 MYC GDAP1L1 HSALNG0130292 OSER1
GH20J044640 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 13.7 +400.0 400038 12.9 ZBTB10 SP1 IKZF1 ZFP64 SIX4 ZIC2 HOMEZ THAP11 SIN3A ZNF623 ADA GDAP1L1 KCNK15 PKIG CCN5 SYS1 ENSG00000132832 OSER1 STK4 lnc-PKIG-5
GH20J044309 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 0.2 +63.6 63616 2.2 ZSCAN16 TBP ZBTB10 SP1 MXD4 CEBPA MNT DEK IKZF1 ZFP64 FITM2 HSALNG0130302 IFT52 SRSF6 TTPAL piR-35564-080 GDAP1L1
GH20J044216 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 0.3 -28.3 -28260 3.7 MXD4 DEK IKZF1 CTCF THAP11 REST ZNF511 VEZF1 TRIM22 SMAD4 OSER1 FITM2 LINC01430 LINC01620 OSER1-DT JPH2 HSALNG0130292 GDAP1L1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GDAP1L1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GDAP1L1

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

Genomic Locations for GDAP1L1 Gene

Latest Assembly
chr20:44,247,099-44,280,947
(GRCh38/hg38)
Size:
33,849 bases
Orientation:
Plus strand

Previous Assembly
chr20:42,875,739-42,909,587
(GRCh37/hg19 by Entrez Gene)
Size:
33,849 bases
Orientation:
Plus strand

chr20:42,875,887-42,909,013
(GRCh37/hg19 by Ensembl)
Size:
33,127 bases
Orientation:
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:
    Q96MZ0-GD1L1_HUMAN
    Recommended name:
    Ganglioside-induced differentiation-associated protein 1-like 1
    Protein Accession:
    Q96MZ0
    Secondary Accessions:
    • B7Z621
    • Q5TE60
    • Q68CW7
    • Q9BQJ7
    • Q9BQV4
    • Q9BWJ4
    • Q9H3Y2
    • Q9H4G5

    Protein attributes for GDAP1L1 Gene

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

    Alternative splice isoforms for GDAP1L1 Gene

    UniProtKB/Swiss-Prot:

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

Protein Domains for GDAP1L1 Gene

InterPro:
Blocks:
  • Glutathione S-transferase, N-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for GDAP1L1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50750, highly similar to Ganglioside-induced differentiation-associated protein 1-like 1 (B7Z1I3_HUMAN)
  • cDNA FLJ51994, highly similar to Ganglioside-induced differentiation-associated protein 1-like 1 (B7Z4H3_HUMAN)
  • Ganglioside-induced differentiation-associated protein 1-like 1, isoform CRA_b (E1P5X2_HUMAN)
  • Ganglioside-induced differentiation-associated protein 1-like 1 (GD1L1_HUMAN)
  • Ganglioside-induced differentiation-associated protein 1-like 1 (Q5JY50_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96MZ0

UniProtKB/Swiss-Prot:

GD1L1_HUMAN :
  • Belongs to the GST superfamily.
Family:
  • 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:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with GDAP1L1: view

Phenotypes for GDAP1L1 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GDAP1L1

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

COMPARTMENTS
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
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 0

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: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

PathCards logo

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 IEA --
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

mRNA/cDNA for GDAP1L1 Gene

5 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GDAP1L1

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: -
SP6:

Relevant External Links for GDAP1L1 Gene

GeneLoc Exon Structure for
GDAP1L1

Expression for GDAP1L1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GDAP1L1

SOURCE GeneReport for Unigene cluster for GDAP1L1 Gene:

Hs.517059

Evidence on tissue expression from TISSUES for GDAP1L1 Gene

  • Nervous system(4.6)
  • Blood(4.3)
genes like me logo Genes that share expression patterns with GDAP1L1: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
Mammalia GDAP1L1 30 31
  • 99.73 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GDAP1L1 30 31
  • 93.91 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GDAP1L1 30 31
  • 93.91 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gdap1l1 30 17 31
  • 92.19 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gdap1l1 30
  • 91.07 (n)
Oppossum
(Monodelphis domestica)
Mammalia GDAP1L1 31
  • 91 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GDAP1L1 31
  • 64 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GDAP1L1 30 31
  • 81.93 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gdap1l1 30
  • 74.18 (n)
Zebrafish
(Danio rerio)
Actinopterygii gdap1l1 30 31
  • 75.71 (n)
OneToOne
Dr.19824 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG4623 31
  • 26 (a)
OneToMany
Species where no ortholog for GDAP1L1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

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

Paralogs for GDAP1L1 Gene

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

  • GD1L1_HUMAN
  • B7Z4H3_HUMAN
  • H0UIB3_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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GDAP1L1 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs754794599 A colorectal cancer sample p.Arg141Trp

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GDAP1L1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

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
GDAP1L1

SNP Genotyping and Copy Number Assays for research

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

Disorders for GDAP1L1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for GDAP1L1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, type 4a
  • cmt4a
spinocerebellar ataxia 36
  • sca36
charcot-marie-tooth disease
  • cmt - charcot-marie-tooth disease
- 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
  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
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  5. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4

Products for GDAP1L1 Gene

Sources for GDAP1L1 Gene