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Protein

Ganglioside-induced differentiation-associated protein 1

Gene

GDAP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Regulates the mitochondrial network by promoting mitochondrial fission.1 Publication

Caution

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

GO - Biological processi

  • cellular response to vitamin D Source: Ensembl
  • mitochondrial fission Source: UniProtKB
  • mitochondrial fusion Source: CACAO
  • mitochondrion organization Source: GO_Central
  • protein targeting to mitochondrion Source: UniProtKB
  • response to retinoic acid Source: Ensembl

Enzyme and pathway databases

SIGNORiQ8TB36

Names & Taxonomyi

Protein namesi
Recommended name:
Ganglioside-induced differentiation-associated protein 1
Short name:
GDAP1
Gene namesi
Name:GDAP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000104381.12
HGNCiHGNC:15968 GDAP1
MIMi606598 gene
neXtProtiNX_Q8TB36

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; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei292 – 312HelicalSequence analysisAdd BLAST21
Transmembranei320 – 340HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cytoplasm, Membrane, Mitochondrion, Mitochondrion outer membrane

Pathology & Biotechi

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.
See also OMIM:214400
Feature keyPosition(s)DescriptionActionsGraphical viewLength
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.
See also OMIM:607706
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017187310R → Q in CMT2RV; Abolishes mitochondrial fission. 2 Publications1
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.
See also OMIM:607831
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:rs1476856429Ensembl.1
Natural variantiVAR_067087282R → H in CMT2K; recessive form. 1 PublicationCorresponds to variant dbSNP:rs375431837Ensembl.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.
See also OMIM:608340
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
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

DisGeNETi54332
GeneReviewsiGDAP1
MalaCardsiGDAP1
MIMi214400 phenotype
607706 phenotype
607831 phenotype
608340 phenotype
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

Polymorphism and mutation databases

BioMutaiGDAP1
DMDMi269849682

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001860381 – 358Ganglioside-induced differentiation-associated protein 1Add BLAST358

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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

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

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

PTM databases

iPTMnetiQ8TB36
PhosphoSitePlusiQ8TB36

Expressioni

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

BgeeiENSG00000104381 Expressed in 182 organ(s), highest expression level in Brodmann (1909) area 23
CleanExiHS_GDAP1
ExpressionAtlasiQ8TB36 baseline and differential
GenevisibleiQ8TB36 HS

Organism-specific databases

HPAiHPA014266
HPA024334

Interactioni

Subunit structurei

Homodimer.1 Publication

Protein-protein interaction databases

BioGridi119934, 14 interactors
IntActiQ8TB36, 13 interactors
MINTiQ8TB36
STRINGi9606.ENSP00000220822

Structurei

3D structure databases

ProteinModelPortaliQ8TB36
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini24 – 105GST N-terminalAdd BLAST82
Domaini153 – 309GST C-terminalAdd BLAST157

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni320 – 358Required for mitochondrial localizationAdd BLAST39

Sequence similaritiesi

Belongs to the GST superfamily.Curated

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4420 Eukaryota
ENOG410YE2J LUCA
GeneTreeiENSGT00510000046788
HOGENOMiHOG000231002
HOVERGENiHBG051717
InParanoidiQ8TB36
KOiK22077
OMAiGHQPWLC
OrthoDBiEOG091G0BAC
PhylomeDBiQ8TB36
TreeFamiTF327072

Family and domain databases

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 PTHR44188, 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

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 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 'canonical' 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
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

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:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:rs1476856429Ensembl.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:rs375431837Ensembl.1
Natural variantiVAR_017187310R → Q in CMT2RV; Abolishes mitochondrial fission. 2 Publications1
Natural variantiVAR_078273310R → W in CMT2K; recessive form. 1 PublicationCorresponds to variant dbSNP:rs538389475Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0383931 – 68Missing in isoform 2. 1 PublicationAdd BLAST68

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]
UniGeneiHs.168950

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

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]
UniGeneiHs.168950

3D structure databases

ProteinModelPortaliQ8TB36
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119934, 14 interactors
IntActiQ8TB36, 13 interactors
MINTiQ8TB36
STRINGi9606.ENSP00000220822

PTM databases

iPTMnetiQ8TB36
PhosphoSitePlusiQ8TB36

Polymorphism and mutation databases

BioMutaiGDAP1
DMDMi269849682

Proteomic databases

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

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi54332
DisGeNETi54332
EuPathDBiHostDB:ENSG00000104381.12
GeneCardsiGDAP1
GeneReviewsiGDAP1
HGNCiHGNC:15968 GDAP1
HPAiHPA014266
HPA024334
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
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4420 Eukaryota
ENOG410YE2J LUCA
GeneTreeiENSGT00510000046788
HOGENOMiHOG000231002
HOVERGENiHBG051717
InParanoidiQ8TB36
KOiK22077
OMAiGHQPWLC
OrthoDBiEOG091G0BAC
PhylomeDBiQ8TB36
TreeFamiTF327072

Enzyme and pathway databases

SIGNORiQ8TB36

Miscellaneous databases

GeneWikiiGDAP1
GenomeRNAii54332
PROiPR:Q8TB36
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104381 Expressed in 182 organ(s), highest expression level in Brodmann (1909) area 23
CleanExiHS_GDAP1
ExpressionAtlasiQ8TB36 baseline and differential
GenevisibleiQ8TB36 HS

Family and domain databases

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 PTHR44188, 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
ProtoNetiSearch...

Entry informationi

Entry nameiGDAP1_HUMAN
AccessioniPrimary (citable) accession number: Q8TB36
Secondary accession number(s): A8K957, E7FJF3, E7FJF4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: November 24, 2009
Last modified: November 7, 2018
This is version 156 of the entry and version 3 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, 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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