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HUMAN:GDAP1
Contents
| Species (Taxon ID) | Homo sapiens (Human). (9606) | |
| Gene Name(s) | GDAP1 | |
| Protein Name(s) | Ganglioside-induced differentiation-associated protein 1
GDAP1 | |
| External Links | ||
| UniProt | Q8TB36 | |
| EMBL | Y17849 AB551556 AB551557 AK292572 AC103952 BC024939 | |
| CCDS | CCDS34911.1 CCDS47877.1 | |
| RefSeq | NP_001035808.1 NP_061845.2 | |
| UniGene | Hs.168950 | |
| ProteinModelPortal | Q8TB36 | |
| BioGrid | 119934 | |
| STRING | 9606.ENSP00000220822 | |
| PhosphoSite | Q8TB36 | |
| DMDM | 269849682 | |
| MaxQB | Q8TB36 | |
| PaxDb | Q8TB36 | |
| PRIDE | Q8TB36 | |
| Ensembl | ENST00000220822 ENST00000434412 | |
| GeneID | 54332 | |
| KEGG | hsa:54332 | |
| UCSC | uc003yah.3 | |
| CTD | 54332 | |
| GeneCards | GC08P075233 | |
| GeneReviews | GDAP1 | |
| HGNC | HGNC:15968 | |
| HPA | HPA014266 HPA024334 | |
| MIM | 214400 606598 607706 607831 608340 | |
| neXtProt | NX_Q8TB36 | |
| Orphanet | 99944 101097 217055 101102 99948 | |
| PharmGKB | PA28626 | |
| eggNOG | NOG307949 | |
| GeneTree | ENSGT00510000046788 | |
| HOGENOM | HOG000231002 | |
| HOVERGEN | HBG051717 | |
| InParanoid | Q8TB36 | |
| OMA | ARRQDEQ | |
| OrthoDB | EOG70GMG0 | |
| PhylomeDB | Q8TB36 | |
| TreeFam | TF327072 | |
| GeneWiki | GDAP1 | |
| GenomeRNAi | 54332 | |
| NextBio | 35464612 | |
| PRO | PR:Q8TB36 | |
| Proteomes | UP000005640 | |
| Bgee | Q8TB36 | |
| CleanEx | HS_GDAP1 | |
| ExpressionAtlas | Q8TB36 | |
| Genevestigator | Q8TB36 | |
| GO | GO:0031307 GO:0016020 GO:0005634 GO:0000266 GO:0006626 GO:0032526 | |
| Gene3D | 1.20.1050.10 3.40.30.10 | |
| InterPro | IPR010987 IPR004045 IPR012336 | |
| Pfam | PF13417 | |
| SUPFAM | SSF47616 SSF52833 | |
| PROSITE | PS50405 PS50404 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | ECO ID | ECO term name | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|---|---|
| GO:0000266 |
mitochondrial fission |
ECO:0000314 |
P |
GDAP1 promotes mitochondrial fission: Figure 4 |
complete | |||||
| GO:0008053 |
mitochondrial fusion |
ECO:0000315 |
P |
GDAP1 responsible for mitochondrial fusion: Figure 3. |
complete | |||||
|
involved_in |
GO:0008053 |
mitochondrial fusion |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0016020 |
membrane |
ECO:0007005 |
high throughput direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005634 |
nucleus |
ECO:0007005 |
high throughput direct assay evidence used in manual assertion |
C |
part_of:(CL:0000019) |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0031307 |
integral component of mitochondrial outer membrane |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0006626 |
protein targeting to mitochondrion |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0000266 |
mitochondrial fission |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0031307 |
integral component of mitochondrial outer membrane |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN002544728 |
C |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0008053 |
mitochondrial fusion |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN002544728 |
P |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0007005 |
mitochondrion organization |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
FB:FBgn0035587 |
P |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0006626 |
protein targeting to mitochondrion |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN002544728 |
P |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0005739 |
mitochondrion |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN002544728 |
C |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0000266 |
mitochondrial fission |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN002544728 |
P |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0005829 |
cytosol |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005739 |
mitochondrion |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0071305 |
cellular response to vitamin D |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:D4A5X7 |
P |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0005739 |
mitochondrion |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:D4A5X7 |
C |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0032526 |
response to retinoic acid |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:O88741 |
P |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0016021 |
integral component of membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005739 |
mitochondrion |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005741 |
mitochondrial outer membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0016020 |
membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005737 |
cytoplasm |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ Niemann, A et al. (2005) Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease. J. Cell Biol. 170 1067-78 PubMed GONUTS page
- ↑ 2.0 2.1 Zimoń, M et al. (2011) Dominant GDAP1 mutations cause predominantly mild CMT phenotypes. Neurology 77 540-8 PubMed GONUTS page
- ↑ Ghosh, D et al. (2010) Defining the membrane proteome of NK cells. J Mass Spectrom 45 1-25 PubMed GONUTS page
- ↑ de Mateo, S et al. (2011) Proteomic characterization of the human sperm nucleus. Proteomics 11 2714-26 PubMed GONUTS page
- ↑ 5.0 5.1 5.2 Pedrola, L et al. (2005) GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. Hum. Mol. Genet. 14 1087-94 PubMed GONUTS page
- ↑ 6.0 6.1 6.2 6.3 6.4 6.5 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
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