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Entry version 167 (22 Apr 2020)
Sequence version 3 (24 Nov 2009)
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Protein

Ganglioside-induced differentiation-associated protein 1

Gene

GDAP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Regulates the mitochondrial network by promoting mitochondrial fission.1 Publication

Caution

While belonging to the GST superfamily, it lacks glutathione transferase activity.Curated

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-9603798 Class I peroxisomal membrane protein import

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q8TB36

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Ganglioside-induced differentiation-associated protein 1
Short name:
GDAP1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GDAP1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:15968 GDAP1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606598 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8TB36

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei292 – 312HelicalSequence analysisAdd BLAST21
Transmembranei320 – 340HelicalSequence analysisAdd BLAST21

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cytoplasm, Membrane, Mitochondrion, Mitochondrion outer membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Charcot-Marie-Tooth disease 4A (CMT4A)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4A is a severe form characterized by early age of onset and rapid progression leading to inability to walk in late childhood or adolescence.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_017184120R → Q in CMT4A; no effect on mitochondrial localization but impairment in the ability to induce mitochondrial fragmentation. 3 PublicationsCorresponds to variant dbSNP:rs1174933176Ensembl.1
Natural variantiVAR_017185161R → H in CMT4A; no effect on mitochondrial localization but abolishes mitochondrial fission. 3 PublicationsCorresponds to variant dbSNP:rs104894076EnsemblClinVar.1
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive (CMT2RV)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Charcot-Marie-Tooth disease characterized by the association of axonal neuropathy with vocal cord paresis. Charcot-Marie-Tooth disease is a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017187310R → Q in CMT2RV; Abolishes mitochondrial fission. 2 PublicationsCorresponds to variant dbSNP:rs1323153568EnsemblClinVar.1
Charcot-Marie-Tooth disease 2K (CMT2K)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Charcot-Marie-Tooth disease type 2K onset is in early childhood (younger than 3 years). This phenotype is characterized by foot deformities, kyphoscoliosis, distal limb muscle weakness and atrophy, areflexia, and diminished sensation in the lower limbs. Weakness in the upper limbs is observed in the first decade, with clawing of the fingers. Inheritance can be autosomal dominant or recessive.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078265120R → G in CMT2K; dominant form. 1 Publication1
Natural variantiVAR_078266120R → W in CMT2K; dominant form; no effect on mitochondrial localization. 3 PublicationsCorresponds to variant dbSNP:rs104894078EnsemblClinVar.1
Natural variantiVAR_078267123H → R in CMT2K; dominant form;. 2 PublicationsCorresponds to variant dbSNP:rs397515442EnsemblClinVar.1
Natural variantiVAR_078268126E → K in CMT2K; dominant form; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879254005EnsemblClinVar.1
Natural variantiVAR_078269156A → G in CMT2K; dominant form. 1 PublicationCorresponds to variant dbSNP:rs397515441EnsemblClinVar.1
Natural variantiVAR_078270218Q → E in CMT2K; dominant form; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121908113EnsemblClinVar.1
Natural variantiVAR_078271226R → S in CMT2K; dominant form; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs267606842EnsemblClinVar.1
Natural variantiVAR_078272247A → V in CMT2K; recessive form; unknown pathological significance. 1 Publication1
Natural variantiVAR_067086256H → R in CMT2K; recessive form. 1 PublicationCorresponds to variant dbSNP:rs1476856429EnsemblClinVar.1
Natural variantiVAR_067087282R → H in CMT2K; recessive form. 1 PublicationCorresponds to variant dbSNP:rs375431837EnsemblClinVar.1
Natural variantiVAR_078273310R → W in CMT2K; recessive form. 1 PublicationCorresponds to variant dbSNP:rs538389475Ensembl.1
Charcot-Marie-Tooth disease, recessive, intermediate type, A (CMTRIA)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017186282R → C in CMTRIA; no effect on mitochondrial localization but impairment in the ability to induce mitochondrial fragmentation. 4 PublicationsCorresponds to variant dbSNP:rs28937906EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi116M → H: Impairment in the ability to induce mitochondrial fragmentation. 1 Publication1
Mutagenesisi157T → P: No effect on mitochondrial localization. 1 Publication1

Keywords - Diseasei

Charcot-Marie-Tooth disease, Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNET

More...
DisGeNETi
54332

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
GDAP1

MalaCards human disease database

More...
MalaCardsi
GDAP1
MIMi214400 phenotype
607706 phenotype
607831 phenotype
608340 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000104381

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K
101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
101102 Charcot-Marie-Tooth disease type 2H
99948 Charcot-Marie-Tooth disease type 4A

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA28626

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8TB36 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GDAP1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
269849682

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001860381 – 358Ganglioside-induced differentiation-associated protein 1Add BLAST358

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki50Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki172Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki173Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki188Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki190Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei203N6-acetyllysine; alternateCombined sources1
Cross-linki203Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate1 Publication
Cross-linki206Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki207Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki214Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30.1 Publication

Keywords - PTMi

Acetylation, Isopeptide bond, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8TB36

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8TB36

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8TB36

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8TB36

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8TB36

PeptideAtlas

More...
PeptideAtlasi
Q8TB36

PRoteomics IDEntifications database

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PRIDEi
Q8TB36

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
73956 [Q8TB36-1]
73957 [Q8TB36-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8TB36

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8TB36

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in whole brain and spinal cord. Predominant expression in central tissues of the nervous system not only in neurons but also in Schwann cells.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000104381 Expressed in Brodmann (1909) area 23 and 181 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8TB36 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8TB36 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000104381 Tissue enhanced (brain)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Show more details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
119934, 15 interactors

Protein interaction database and analysis system

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IntActi
Q8TB36, 14 interactors

Molecular INTeraction database

More...
MINTi
Q8TB36

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000220822

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8TB36 protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini24 – 105GST N-terminalAdd BLAST82
Domaini153 – 309GST C-terminalAdd BLAST157

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni320 – 358Required for mitochondrial localizationAdd BLAST39

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the GST superfamily.Curated

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4420 Eukaryota
ENOG410YE2J LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000159124

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_049129_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8TB36

KEGG Orthology (KO)

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KOi
K22077

Identification of Orthologs from Complete Genome Data

More...
OMAi
GEFFSMA

Database of Orthologous Groups

More...
OrthoDBi
1011771at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8TB36

TreeFam database of animal gene trees

More...
TreeFami
TF327072

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.40.30.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR034336 GDAP1
IPR010987 Glutathione-S-Trfase_C-like
IPR036282 Glutathione-S-Trfase_C_sf
IPR040079 Glutathione_S-Trfase
IPR004045 Glutathione_S-Trfase_N
IPR036249 Thioredoxin-like_sf

The PANTHER Classification System

More...
PANTHERi
PTHR44188:SF3 PTHR44188:SF3, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13417 GST_N_3, 1 hit

Structure-Function Linkage Database

More...
SFLDi
SFLDS00019 Glutathione_Transferase_(cytos, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47616 SSF47616, 1 hit
SSF52833 SSF52833, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50405 GST_CTER, 1 hit
PS50404 GST_NTER, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8TB36-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAERQEEQRG SPPLRAEGKA DAEVKLILYH WTHSFSSQKV RLVIAEKALK
60 70 80 90 100
CEEHDVSLPL SEHNEPWFMR LNSTGEVPVL IHGENIICEA TQIIDYLEQT
110 120 130 140 150
FLDERTPRLM PDKESMYYPR VQHYRELLDS LPMDAYTHGC ILHPELTVDS
160 170 180 190 200
MIPAYATTRI RSQIGNTESE LKKLAEENPD LQEAYIAKQK RLKSKLLDHD
210 220 230 240 250
NVKYLKKILD ELEKVLDQVE TELQRRNEET PEEGQQPWLC GESFTLADVS
260 270 280 290 300
LAVTLHRLKF LGFARRNWGN GKRPNLETYY ERVLKRKTFN KVLGHVNNIL
310 320 330 340 350
ISAVLPTAFR VAKKRAPKVL GTTLVVGLLA GVGYFAFMLF RKRLGSMILA

FRPRPNYF
Length:358
Mass (Da):41,346
Last modified:November 24, 2009 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iB1A61EE71918A28F
GO
Isoform 2 (identifier: Q8TB36-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-68: Missing.

Show »
Length:290
Mass (Da):33,480
Checksum:i904C89ADCE6841D2
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E5RGI2E5RGI2_HUMAN
Ganglioside-induced differentiation...
GDAP1
60Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti3E → R in CAA76892 (PubMed:10217254).Curated1
Sequence conflicti16 – 17AE → GK in CAA76892 (PubMed:10217254).Curated2
Sequence conflicti34S → C in BAJ65577 (PubMed:20685671).Curated1
Sequence conflicti53E → G in CAA76892 (PubMed:10217254).Curated1
Sequence conflicti133M → I in BAF85261 (PubMed:14702039).Curated1
Sequence conflicti351F → L in CAA76892 (PubMed:10217254).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07329739K → N Found in a patient with hereditary motor neuropathy; unknown pathological significance. 1 Publication1
Natural variantiVAR_078265120R → G in CMT2K; dominant form. 1 Publication1
Natural variantiVAR_017184120R → Q in CMT4A; no effect on mitochondrial localization but impairment in the ability to induce mitochondrial fragmentation. 3 PublicationsCorresponds to variant dbSNP:rs1174933176Ensembl.1
Natural variantiVAR_078266120R → W in CMT2K; dominant form; no effect on mitochondrial localization. 3 PublicationsCorresponds to variant dbSNP:rs104894078EnsemblClinVar.1
Natural variantiVAR_078267123H → R in CMT2K; dominant form;. 2 PublicationsCorresponds to variant dbSNP:rs397515442EnsemblClinVar.1
Natural variantiVAR_078268126E → K in CMT2K; dominant form; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879254005EnsemblClinVar.1
Natural variantiVAR_078269156A → G in CMT2K; dominant form. 1 PublicationCorresponds to variant dbSNP:rs397515441EnsemblClinVar.1
Natural variantiVAR_017185161R → H in CMT4A; no effect on mitochondrial localization but abolishes mitochondrial fission. 3 PublicationsCorresponds to variant dbSNP:rs104894076EnsemblClinVar.1
Natural variantiVAR_078270218Q → E in CMT2K; dominant form; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121908113EnsemblClinVar.1
Natural variantiVAR_078271226R → S in CMT2K; dominant form; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs267606842EnsemblClinVar.1
Natural variantiVAR_078272247A → V in CMT2K; recessive form; unknown pathological significance. 1 Publication1
Natural variantiVAR_067086256H → R in CMT2K; recessive form. 1 PublicationCorresponds to variant dbSNP:rs1476856429EnsemblClinVar.1
Natural variantiVAR_017186282R → C in CMTRIA; no effect on mitochondrial localization but impairment in the ability to induce mitochondrial fragmentation. 4 PublicationsCorresponds to variant dbSNP:rs28937906EnsemblClinVar.1
Natural variantiVAR_067087282R → H in CMT2K; recessive form. 1 PublicationCorresponds to variant dbSNP:rs375431837EnsemblClinVar.1
Natural variantiVAR_017187310R → Q in CMT2RV; Abolishes mitochondrial fission. 2 PublicationsCorresponds to variant dbSNP:rs1323153568EnsemblClinVar.1
Natural variantiVAR_078273310R → W in CMT2K; recessive form. 1 PublicationCorresponds to variant dbSNP:rs538389475Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0383931 – 68Missing in isoform 2. 1 PublicationAdd BLAST68

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
Y17849 mRNA Translation: CAA76892.1
AB551556 mRNA Translation: BAJ65577.1
AB551557 mRNA Translation: BAJ65578.1
AK292572 mRNA Translation: BAF85261.1
AC103952 Genomic DNA No translation available.
BC024939 mRNA Translation: AAH24939.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS34911.1 [Q8TB36-1]
CCDS47877.1 [Q8TB36-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001035808.1, NM_001040875.2 [Q8TB36-2]
NP_061845.2, NM_018972.2 [Q8TB36-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000220822; ENSP00000220822; ENSG00000104381 [Q8TB36-1]
ENST00000434412; ENSP00000417006; ENSG00000104381 [Q8TB36-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
54332

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:54332

UCSC genome browser

More...
UCSCi
uc003yah.4 human [Q8TB36-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Inherited peripheral neuropathies mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y17849 mRNA Translation: CAA76892.1
AB551556 mRNA Translation: BAJ65577.1
AB551557 mRNA Translation: BAJ65578.1
AK292572 mRNA Translation: BAF85261.1
AC103952 Genomic DNA No translation available.
BC024939 mRNA Translation: AAH24939.1
CCDSiCCDS34911.1 [Q8TB36-1]
CCDS47877.1 [Q8TB36-2]
RefSeqiNP_001035808.1, NM_001040875.2 [Q8TB36-2]
NP_061845.2, NM_018972.2 [Q8TB36-1]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi119934, 15 interactors
IntActiQ8TB36, 14 interactors
MINTiQ8TB36
STRINGi9606.ENSP00000220822

PTM databases

iPTMnetiQ8TB36
PhosphoSitePlusiQ8TB36

Polymorphism and mutation databases

BioMutaiGDAP1
DMDMi269849682

Proteomic databases

EPDiQ8TB36
jPOSTiQ8TB36
MassIVEiQ8TB36
MaxQBiQ8TB36
PaxDbiQ8TB36
PeptideAtlasiQ8TB36
PRIDEiQ8TB36
ProteomicsDBi73956 [Q8TB36-1]
73957 [Q8TB36-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
2988 109 antibodies

Genome annotation databases

EnsembliENST00000220822; ENSP00000220822; ENSG00000104381 [Q8TB36-1]
ENST00000434412; ENSP00000417006; ENSG00000104381 [Q8TB36-2]
GeneIDi54332
KEGGihsa:54332
UCSCiuc003yah.4 human [Q8TB36-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
54332
DisGeNETi54332

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GDAP1
GeneReviewsiGDAP1
HGNCiHGNC:15968 GDAP1
HPAiENSG00000104381 Tissue enhanced (brain)
MalaCardsiGDAP1
MIMi214400 phenotype
606598 gene
607706 phenotype
607831 phenotype
608340 phenotype
neXtProtiNX_Q8TB36
OpenTargetsiENSG00000104381
Orphaneti99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K
101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
101102 Charcot-Marie-Tooth disease type 2H
99948 Charcot-Marie-Tooth disease type 4A
PharmGKBiPA28626

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4420 Eukaryota
ENOG410YE2J LUCA
GeneTreeiENSGT00940000159124
HOGENOMiCLU_049129_0_0_1
InParanoidiQ8TB36
KOiK22077
OMAiGEFFSMA
OrthoDBi1011771at2759
PhylomeDBiQ8TB36
TreeFamiTF327072

Enzyme and pathway databases

ReactomeiR-HSA-9603798 Class I peroxisomal membrane protein import
SIGNORiQ8TB36

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
GDAP1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
GDAP1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
54332
PharosiQ8TB36 Tbio

Protein Ontology

More...
PROi
PR:Q8TB36
RNActiQ8TB36 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000104381 Expressed in Brodmann (1909) area 23 and 181 other tissues
ExpressionAtlasiQ8TB36 baseline and differential
GenevisibleiQ8TB36 HS

Family and domain databases

Gene3Di3.40.30.10, 1 hit
InterProiView protein in InterPro
IPR034336 GDAP1
IPR010987 Glutathione-S-Trfase_C-like
IPR036282 Glutathione-S-Trfase_C_sf
IPR040079 Glutathione_S-Trfase
IPR004045 Glutathione_S-Trfase_N
IPR036249 Thioredoxin-like_sf
PANTHERiPTHR44188:SF3 PTHR44188:SF3, 1 hit
PfamiView protein in Pfam
PF13417 GST_N_3, 1 hit
SFLDiSFLDS00019 Glutathione_Transferase_(cytos, 1 hit
SUPFAMiSSF47616 SSF47616, 1 hit
SSF52833 SSF52833, 1 hit
PROSITEiView protein in PROSITE
PS50405 GST_CTER, 1 hit
PS50404 GST_NTER, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGDAP1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8TB36
Secondary accession number(s): A8K957, E7FJF3, E7FJF4
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: November 24, 2009
Last modified: April 22, 2020
This is version 167 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
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