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GDAP1
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  • GDAP1
PROTEIN STRUCTURE
ANTIBODIES
AND
VALIDATION
Protein structures
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

GDAP1
Synonyms CMT2K, CMT4, CMT4A
Gene descriptioni

Full gene name according to HGNC.

Ganglioside induced differentiation associated protein 1
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Read more
Disease related genes
Human disease related genes
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Read more
Intracellular,Membrane
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 8
Cytoband q21.11
Chromosome location (bp) 74320613 - 74518007
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

23
Ensembl ENSG00000104381 (version 103.38)
Entrez gene 54332
HGNC HGNC:15968
UniProt Q8TB36 (UniProt - Evidence at protein level)
neXtProt NX_Q8TB36
Antibodypedia GDAP1 antibodies


PROTEIN STRUCTUREi

The Structure section provides predicted structures from the Alphafold protein structure database and available experimental structures from Protein Data Bank (PDB).

In the Structure drop-down menu all experimental structures from PDB are available for selection and display. The structures are displayed using the NGL Viewer and can be zoomed-in and rotated either manually or by checking the Autorotate box. The Color scheme can be selected to show the residue index, chain name or confidence score (as B-factors and pLDDT score for experimental and predicted structures, respectively). The positions for available antigen sequences in the structure are shown if Antigens is turned to ON, and the Variants slider can be used to show the positions of clinical and population variants.https://github.com/nglviewer/ngl

Read more

Predicted


Description: Structure prediction from Alphafold project. Structure version 2

# Chains: 1      # Clinical variants: 25      # Population variants: 189

Antigens:

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On

Variants:

Off
Clinical
Population

Color scheme:

Confidence
Residue index
Chain name

Autorotate:

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On



PROTEIN BROWSERi

The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The tabs at the top of the protein view section can be used to switch between the different splice variants to which an antigen has been mapped.

At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.

Below the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).

The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).

If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.

Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
«
GDAP1-201
GDAP1-202
GDAP1-206
GDAP1-207
GDAP1-209
GDAP1-210
GDAP1-213
GDAP1-214
GDAP1-219
GDAP1-222
GDAP1-223
GDAP1-226
GDAP1-228
GDAP1-237
GDAP1-239
GDAP1-240
GDAP1-241
GDAP1-243
GDAP1-245
GDAP1-246
GDAP1-248
GDAP1-249
GDAP1-250
»


PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Splice variant UniProt Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
GDAP1-201
ENSP00000220822
ENST00000220822
Q8TB36 [Direct mapping]
Ganglioside-induced differentiation-associated protein 1
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Disease related genes
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000266 [mitochondrial fission]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005741 [mitochondrial outer membrane]
GO:0005829 [cytosol]
GO:0006626 [protein targeting to mitochondrion]
GO:0006749 [glutathione metabolic process]
GO:0008053 [mitochondrial fusion]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0031307 [integral component of mitochondrial outer membrane]
Show all
358 aa
41.3 kDa
No 2
GDAP1-202
ENSP00000417006
ENST00000434412
Q8TB36 [Direct mapping]
Ganglioside-induced differentiation-associated protein 1
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Disease related genes
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000266 [mitochondrial fission]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005741 [mitochondrial outer membrane]
GO:0005829 [cytosol]
GO:0006626 [protein targeting to mitochondrion]
GO:0006749 [glutathione metabolic process]
GO:0008053 [mitochondrial fusion]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0031307 [integral component of mitochondrial outer membrane]
Show all
314 aa
36.3 kDa
No 2
GDAP1-206
ENSP00000502017
ENST00000523640
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
82 aa
9.6 kDa
No 0
GDAP1-207
ENSP00000502308
ENST00000524195
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
125 aa
14.3 kDa
No 0
GDAP1-209
ENSP00000501864
ENST00000674612
B4DIH2 [Target identity:100%; Query identity:100%]
cDNA FLJ60563, highly similar to Ganglioside-induceddifferentiation-associated protein 1
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
Show all
249 aa
28.8 kDa
No 2
GDAP1-210
ENSP00000502762
ENST00000674710
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
307 aa
35.1 kDa
No 0
GDAP1-213
ENSP00000502637
ENST00000674806
B4DIH2 [Target identity:100%; Query identity:100%]
cDNA FLJ60563, highly similar to Ganglioside-induceddifferentiation-associated protein 1
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
Show all
249 aa
28.8 kDa
No 2
GDAP1-214
ENSP00000502437
ENST00000674865
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
290 aa
33.5 kDa
No 1
GDAP1-219
ENSP00000502447
ENST00000674973
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
256 aa
29.4 kDa
No 2
GDAP1-222
ENSP00000502612
ENST00000675165
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
357 aa
41.2 kDa
No 1
GDAP1-223
ENSP00000502588
ENST00000675220
B4DIH2 [Target identity:100%; Query identity:100%]
cDNA FLJ60563, highly similar to Ganglioside-induceddifferentiation-associated protein 1
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
Show all
249 aa
28.8 kDa
No 2
GDAP1-226
ENSP00000502838
ENST00000675376
B4DIH2 [Target identity:100%; Query identity:100%]
cDNA FLJ60563, highly similar to Ganglioside-induceddifferentiation-associated protein 1
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
Show all
249 aa
28.8 kDa
No 2
GDAP1-228
ENSP00000502327
ENST00000675463
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005739 [mitochondrion]
GO:0032526 [response to retinoic acid]
GO:0071305 [cellular response to vitamin D]
Show all
384 aa
44.2 kDa
No 1
GDAP1-237
ENSP00000502198
ENST00000675821
B4DIH2 [Target identity:100%; Query identity:100%]
cDNA FLJ60563, highly similar to Ganglioside-induceddifferentiation-associated protein 1
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
Show all
249 aa
28.8 kDa
No 2
GDAP1-239
ENSP00000501568
ENST00000675928
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
300 aa
34.5 kDa
No 1
GDAP1-240
ENSP00000502673
ENST00000675944
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
290 aa
33.5 kDa
No 1
GDAP1-241
ENSP00000502572
ENST00000675999
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
295 aa
33.7 kDa
No 0
GDAP1-243
ENSP00000502295
ENST00000676112
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
380 aa
43.7 kDa
No 1
GDAP1-245
ENSP00000502828
ENST00000676143
B4DIH2 [Target identity:100%; Query identity:100%]
cDNA FLJ60563, highly similar to Ganglioside-induceddifferentiation-associated protein 1
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
Show all
249 aa
28.8 kDa
No 2
GDAP1-246
ENSP00000502638
ENST00000676207
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
263 aa
30.3 kDa
No 0
GDAP1-248
ENSP00000502756
ENST00000676377
B4DIH2 [Target identity:100%; Query identity:100%]
cDNA FLJ60563, highly similar to Ganglioside-induceddifferentiation-associated protein 1
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
Show all
249 aa
28.8 kDa
No 2
GDAP1-249
ENSP00000502665
ENST00000676415
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
244 aa
28.4 kDa
No 0
GDAP1-250
ENSP00000501769
ENST00000676443
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
342 aa
39.4 kDa
No 2

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