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| # | Reference Title | Reference Citation |
| 1. | Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. | Baxter RV, etal., Nat Genet. 2002 Jan;30(1):21-2. Epub 2001 Dec 17. |
| 2. | The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. | Cuesta A, etal., Nat Genet. 2002 Jan;30(1):22-5. Epub 2001 Dec 17. |
| 3. | Mitochondria dynamism: of shape, transport and cell migration. | da Silva AF, etal., Cell Mol Life Sci. 2014 Jun;71(12):2313-24. doi: 10.1007/s00018-014-1557-8. Epub 2014 Jan 18. |
| 4. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 5. | L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype. | Kabzinska D, etal., Neurogenetics. 2010 Jul;11(3):357-66. doi: 10.1007/s10048-010-0237-6. Epub 2010 Mar 16. |
| 6. | A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease. | Kabzinska D, etal., Neurogenetics. 2011 May;12(2):145-53. doi: 10.1007/s10048-011-0276-7. Epub 2011 Mar 2. |
| 7. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 8. | Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. | Nelis E, etal., Neurology 2002 Dec 24;59(12):1865-72. |
| 9. | The Gdap1 knockout mouse mechanistically links redox control to Charcot-Marie-Tooth disease. | Niemann A, etal., Brain. 2014 Mar;137(Pt 3):668-82. doi: 10.1093/brain/awt371. Epub 2014 Jan 29. |
| 10. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 11. | The regulation of mitochondrial morphology: intricate mechanisms and dynamic machinery. | Palmer CS, etal., Cell Signal. 2011 Oct;23(10):1534-45. doi: 10.1016/j.cellsig.2011.05.021. Epub 2011 Jun 13. |
| 12. | Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease. | Pedrola L, etal., J Cell Mol Med. 2008 Apr;12(2):679-89. Epub 2007 Nov 16. |
| 13. | Discovery of novel vitamin D-regulated proteins in INS-1 cells: a proteomic approach. | Pepaj M, etal., Diabetes Metab Res Rev. 2015 Jul;31(5):481-91. doi: 10.1002/dmrr.2629. Epub 2015 Feb 6. |
| 14. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 15. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 16. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 17. | A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family. | Xin B, etal., Clin Genet. 2008 Sep;74(3):274-8. doi: 10.1111/j.1399-0004.2008.01018.x. Epub 2008 May 19. |
| PMID:10217254 | PMID:15772096 | PMID:19946888 | PMID:21630459 | PMID:21753178 | PMID:22871113 |
| Gdap1 (Rattus norvegicus - Norway rat) |
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| GDAP1 (Homo sapiens - human) |
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| Gdap1 (Mus musculus - house mouse) |
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| Gdap1 (Chinchilla lanigera - long-tailed chinchilla) |
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| GDAP1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| GDAP1 (Canis lupus familiaris - dog) |
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| Gdap1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| GDAP1 (Sus scrofa - pig) |
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| GDAP1 (Chlorocebus sabaeus - green monkey) |
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| Gdap1 (Heterocephalus glaber - naked mole-rat) |
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| Gdap1 (Rattus rattus - black rat) |
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.
Variants in Gdap1
180 total Variants
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| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 12 | 11 | 63 | 151 | 71 | 70 | 39 | 30 | 39 | 6 | 249 | 125 | 10 | 126 | 65 | 89 | 31 | 16 | 16 |
| RefSeq Transcripts | NM_001107897 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| GenBank Nucleotide | CH473984 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| JAXUCZ010000005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000007994 ⟹ ENSRNOP00000007994 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| RefSeq Acc Id: | NM_001107897 ⟹ NP_001101367 | ||||||||||||||||||||||||||||
| RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
| Protein RefSeqs | NP_001101367 | (Get FASTA) | NCBI Sequence Viewer |
| GenBank Protein | EDM11488 | (Get FASTA) | NCBI Sequence Viewer |
| Ensembl Protein | ENSRNOP00000007994 | ||
| ENSRNOP00000007994.7 |
| RefSeq Acc Id: | NP_001101367 ⟸ NM_001107897 |
| - UniProtKB: | D4A5X7 (UniProtKB/TrEMBL), A6JF92 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000007994 ⟸ ENSRNOT00000007994 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-D4A5X7-F1-model_v2 | AlphaFold | D4A5X7 | 1-358 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:1309005 | AgrOrtholog |
| BioCyc Gene | G2FUF-42324 | BioCyc |
| Ensembl Genes | ENSRNOG00000005850 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
| Ensembl Transcript | ENSRNOT00000007994 | ENTREZGENE |
| ENSRNOT00000007994.9 | UniProtKB/TrEMBL | |
| Gene3D-CATH | 1.20.1050.10 | UniProtKB/TrEMBL |
| Glutaredoxin | UniProtKB/TrEMBL | |
| InterPro | GDAP1 | UniProtKB/TrEMBL |
| Glutathione-S-Trfase_C-like | UniProtKB/TrEMBL | |
| Glutathione-S-Trfase_C_sf | UniProtKB/TrEMBL | |
| Glutathione_S-Trfase | UniProtKB/TrEMBL | |
| Glutathione_S-Trfase_N | UniProtKB/TrEMBL | |
| Thioredoxin-like_sf | UniProtKB/TrEMBL | |
| KEGG Report | rno:312890 | UniProtKB/TrEMBL |
| NCBI Gene | 312890 | ENTREZGENE |
| PANTHER | GDAP1, ISOFORM A | UniProtKB/TrEMBL |
| PTHR44188:SF3 | UniProtKB/TrEMBL | |
| Pfam | GST_C_2 | UniProtKB/TrEMBL |
| GST_N_3 | UniProtKB/TrEMBL | |
| PhenoGen | Gdap1 | PhenoGen |
| PROSITE | GST_CTER | UniProtKB/TrEMBL |
| GST_NTER | UniProtKB/TrEMBL | |
| RatGTEx | ENSRNOG00000005850 | RatGTEx |
| Superfamily-SCOP | GST_C_like | UniProtKB/TrEMBL |
| Thiordxn-like_fd | UniProtKB/TrEMBL | |
| UniProt | A6JF92 | ENTREZGENE, UniProtKB/TrEMBL |
| D4A5X7 | ENTREZGENE, UniProtKB/TrEMBL |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2008-04-30 | Gdap1 | ganglioside-induced differentiation-associated-protein 1 | Gdap1_predicted | ganglioside-induced differentiation-associated-protein 1 (predicted) | 'predicted' is removed | 2292626 | APPROVED |
| 2005-01-12 | Gdap1_predicted | ganglioside-induced differentiation-associated-protein 1 (predicted) | Symbol and Name status set to approved | 70820 | APPROVED |