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Q8TB36

- GDAP1_HUMAN

UniProt

Q8TB36 - GDAP1_HUMAN

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Protein

Ganglioside-induced differentiation-associated protein 1

Gene

GDAP1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Regulates the mitochondrial network by promoting mitochondrial fission.1 Publication

GO - Biological processi

  1. cell death Source: UniProtKB-KW
  2. mitochondrial fission Source: UniProtKB
  3. protein targeting to mitochondrion Source: UniProtKB
  4. response to retinoic acid Source: Ensembl
Complete GO annotation...

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
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:15968. GDAP1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei292 – 31221HelicalSequence AnalysisAdd
BLAST
Transmembranei320 – 34021HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of mitochondrial outer membrane Source: UniProtKB
  2. membrane Source: UniProtKB
  3. nucleus Source: UniProt
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane, Mitochondrion, Mitochondrion outer membrane

Pathology & Biotechi

Involvement in diseasei

Charcot-Marie-Tooth disease 4A (CMT4A) [MIM:214400]: A 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.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti120 – 1201R → Q in CMT4A; no effect on mitochondrial localization but impairment in the ability to induce mitochodrial fragmentation. 1 Publication
VAR_017184
Natural varianti161 – 1611R → H in CMT4A; no effect on mitochondrial localization but abolishes mitochondrial fission. 1 Publication
VAR_017185
Natural varianti282 – 2821R → C in CMT4A; no effect on mitochondrial localization but impairment in the ability to induce mitochodrial fragmentation. 2 Publications
Corresponds to variant rs28937906 [ dbSNP | Ensembl ].
VAR_017186
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive (CMT2RV) [MIM:607706]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti310 – 3101R → Q in CMT2RV; Abolishes mitochondrial fission. 1 Publication
VAR_017187
Charcot-Marie-Tooth disease 2K (CMT2K) [MIM:607831]: An 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. Nerve conduction velocities are normal or slightly reduced. 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti256 – 2561H → R in CMT2K; recessive form. 1 Publication
VAR_067086
Natural varianti282 – 2821R → H in CMT2K; recessive form. 1 Publication
VAR_067087
Charcot-Marie-Tooth disease, recessive, intermediate type, A (CMTRIA) [MIM:608340]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi116 – 1161M → H: Impairment in the ability to induce mitochodrial fragmentation. 1 Publication
Mutagenesisi120 – 1201R → W: No effect on mitochondrial localization. 1 Publication
Mutagenesisi157 – 1571T → P: No effect on mitochondrial localization. 1 Publication

Keywords - Diseasei

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

Organism-specific databases

MIMi214400. phenotype.
607706. phenotype.
607831. phenotype.
608340. phenotype.
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.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 358358Ganglioside-induced differentiation-associated protein 1PRO_0000186038Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei203 – 2031N6-acetyllysine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ8TB36.
PaxDbiQ8TB36.
PRIDEiQ8TB36.

PTM databases

PhosphoSiteiQ8TB36.

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

BgeeiQ8TB36.
CleanExiHS_GDAP1.
ExpressionAtlasiQ8TB36. baseline and differential.
GenevestigatoriQ8TB36.

Organism-specific databases

HPAiHPA014266.
HPA024334.

Interactioni

Subunit structurei

Homodimer.1 Publication

Protein-protein interaction databases

BioGridi119934. 7 interactions.
STRINGi9606.ENSP00000220822.

Structurei

3D structure databases

ProteinModelPortaliQ8TB36.
SMRiQ8TB36. Positions 26-127.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini24 – 10582GST N-terminalAdd
BLAST
Domaini153 – 309157GST C-terminalAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni320 – 35839Required for mitochondrial localizationAdd
BLAST

Sequence similaritiesi

Belongs to the GST superfamily.Curated
Contains 1 GST C-terminal domain.Curated
Contains 1 GST N-terminal domain.Curated

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG307949.
GeneTreeiENSGT00510000046788.
HOGENOMiHOG000231002.
HOVERGENiHBG051717.
InParanoidiQ8TB36.
OMAiARRQDEQ.
OrthoDBiEOG70GMG0.
PhylomeDBiQ8TB36.
TreeFamiTF327072.

Family and domain databases

Gene3Di1.20.1050.10. 1 hit.
3.40.30.10. 1 hit.
InterProiIPR010987. Glutathione-S-Trfase_C-like.
IPR004045. Glutathione_S-Trfase_N.
IPR012336. Thioredoxin-like_fold.
[Graphical view]
PfamiPF13417. GST_N_3. 1 hit.
[Graphical view]
SUPFAMiSSF47616. SSF47616. 1 hit.
SSF52833. SSF52833. 1 hit.
PROSITEiPS50405. GST_CTER. 1 hit.
PS50404. GST_NTER. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti3 – 31E → R in CAA76892. (PubMed:10217254)Curated
Sequence conflicti16 – 172AE → GK in CAA76892. (PubMed:10217254)Curated
Sequence conflicti34 – 341S → C in BAJ65577. (PubMed:20685671)Curated
Sequence conflicti53 – 531E → G in CAA76892. (PubMed:10217254)Curated
Sequence conflicti133 – 1331M → I in BAF85261. (PubMed:14702039)Curated
Sequence conflicti226 – 2261R → S in BAJ65578. (PubMed:20685671)Curated
Sequence conflicti351 – 3511F → L in CAA76892. (PubMed:10217254)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti120 – 1201R → Q in CMT4A; no effect on mitochondrial localization but impairment in the ability to induce mitochodrial fragmentation. 1 Publication
VAR_017184
Natural varianti161 – 1611R → H in CMT4A; no effect on mitochondrial localization but abolishes mitochondrial fission. 1 Publication
VAR_017185
Natural varianti256 – 2561H → R in CMT2K; recessive form. 1 Publication
VAR_067086
Natural varianti282 – 2821R → C in CMT4A; no effect on mitochondrial localization but impairment in the ability to induce mitochodrial fragmentation. 2 Publications
Corresponds to variant rs28937906 [ dbSNP | Ensembl ].
VAR_017186
Natural varianti282 – 2821R → H in CMT2K; recessive form. 1 Publication
VAR_067087
Natural varianti310 – 3101R → Q in CMT2RV; Abolishes mitochondrial fission. 1 Publication
VAR_017187

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 6868Missing in isoform 2. 1 PublicationVSP_038393Add
BLAST

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.3. human. [Q8TB36-1]

Polymorphism databases

DMDMi269849682.

Keywords - Coding sequence diversityi

Alternative splicing

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 .
CCDSi CCDS34911.1. [Q8TB36-1 ]
CCDS47877.1. [Q8TB36-2 ]
RefSeqi NP_001035808.1. NM_001040875.2. [Q8TB36-2 ]
NP_061845.2. NM_018972.2. [Q8TB36-1 ]
UniGenei Hs.168950.

3D structure databases

ProteinModelPortali Q8TB36.
SMRi Q8TB36. Positions 26-127.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119934. 7 interactions.
STRINGi 9606.ENSP00000220822.

PTM databases

PhosphoSitei Q8TB36.

Polymorphism databases

DMDMi 269849682.

Proteomic databases

MaxQBi Q8TB36.
PaxDbi Q8TB36.
PRIDEi Q8TB36.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000220822 ; ENSP00000220822 ; ENSG00000104381 . [Q8TB36-1 ]
ENST00000434412 ; ENSP00000417006 ; ENSG00000104381 . [Q8TB36-2 ]
GeneIDi 54332.
KEGGi hsa:54332.
UCSCi uc003yah.3. human. [Q8TB36-1 ]

Organism-specific databases

CTDi 54332.
GeneCardsi GC08P075233.
GeneReviewsi GDAP1.
HGNCi HGNC:15968. GDAP1.
HPAi HPA014266.
HPA024334.
MIMi 214400. phenotype.
606598. gene.
607706. phenotype.
607831. phenotype.
608340. phenotype.
neXtProti NX_Q8TB36.
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.
PharmGKBi PA28626.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG307949.
GeneTreei ENSGT00510000046788.
HOGENOMi HOG000231002.
HOVERGENi HBG051717.
InParanoidi Q8TB36.
OMAi ARRQDEQ.
OrthoDBi EOG70GMG0.
PhylomeDBi Q8TB36.
TreeFami TF327072.

Miscellaneous databases

GeneWikii GDAP1.
GenomeRNAii 54332.
NextBioi 35464612.
PROi Q8TB36.
SOURCEi Search...

Gene expression databases

Bgeei Q8TB36.
CleanExi HS_GDAP1.
ExpressionAtlasi Q8TB36. baseline and differential.
Genevestigatori Q8TB36.

Family and domain databases

Gene3Di 1.20.1050.10. 1 hit.
3.40.30.10. 1 hit.
InterProi IPR010987. Glutathione-S-Trfase_C-like.
IPR004045. Glutathione_S-Trfase_N.
IPR012336. Thioredoxin-like_fold.
[Graphical view ]
Pfami PF13417. GST_N_3. 1 hit.
[Graphical view ]
SUPFAMi SSF47616. SSF47616. 1 hit.
SSF52833. SSF52833. 1 hit.
PROSITEi PS50405. GST_CTER. 1 hit.
PS50404. GST_NTER. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Isolation of 10 differentially expressed cDNAs in differentiated Neuro2a cells induced through controlled expression of the GD3 synthase gene."
    Liu H., Nakagawa T., Kanematsu T., Uchida T., Tsuji S.
    J. Neurochem. 72:1781-1790(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Brain.
  2. "The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K."
    Crimella C., Tonelli A., Airoldi G., Baschirotto C., D'Angelo M.G., Bonato S., Losito L., Trabacca A., Bresolin N., Bassi M.T.
    J. Med. Genet. 47:712-716(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Blood.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Testis.
  4. "DNA sequence and analysis of human chromosome 8."
    Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
    , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
    Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Melanoma.
  6. "The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease."
    Cuesta A., Pedrola L., Sevilla T., Garcia-Planells J., Chumillas M.J., Mayordomo F., LeGuern E., Marin I., Vilchez J.J., Palau F.
    Nat. Genet. 30:22-25(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: DISEASE, TISSUE SPECIFICITY.
  7. "GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria."
    Pedrola L., Espert A., Wu X., Claramunt R., Shy M.E., Palau F.
    Hum. Mol. Genet. 14:1087-1094(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, MUTAGENESIS OF ARG-120 AND THR-157, CHARACTERIZATION OF VARIANTS CMT4A GLN-120; HIS-161 AND CYS-282.
  8. "Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease."
    Niemann A., Ruegg M., La Padula V., Schenone A., Suter U.
    J. Cell Biol. 170:1067-1078(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, FUNCTION, MUTAGENESIS OF MET-116, CHARACTERIZATION OF VARIANTS CMT4A GLN-120; HIS-161 AND CYS-282, CHARACTERIZATION OF VARIANT CMT2RV GLN-310.
  9. "Functional characterisation of ganglioside-induced differentiation-associated protein 1 as a glutathione transferase."
    Shield A.J., Murray T.P., Board P.G.
    Biochem. Biophys. Res. Commun. 347:859-866(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBUNIT, SUBCELLULAR LOCATION, LACK OF GLUTATHIONE TRANSFERASE ACTIVITY.
  10. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
    Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
    Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-203, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  11. "Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21."
    Baxter R.V., Ben-Othmane K., Rochelle J.M., Stajich J.E., Hulette C., Dew-Knight S., Hentati F., Ben-Hamida M., Bel S., Stenger J.E., Gilbert J.R., Pericak-Vance M.A., Vance J.M.
    Nat. Genet. 30:21-22(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CMT4A HIS-161.
  12. Cited for: VARIANT CMT4A CYS-282.
  13. "Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene."
    Azzedine H., Ruberg M., Ente D., Gilardeau C., Perie S., Wechsler B., Brice A., LeGuern E., Dubourg O.
    Neuromuscul. Disord. 13:341-346(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CMT2RV GLN-310.
  14. Cited for: VARIANT CMT4A GLN-120.
  15. "Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy."
    Senderek J., Bergmann C., Ramaekers V.T., Nelis E., Bernert G., Makowski A., Zuechner S., De Jonghe P., Rudnik-Schoeneborn S., Zerres K., Schroeder J.M.
    Brain 126:642-649(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CMT4A CYS-282.
  16. "The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan."
    Lin K.P., Soong B.W., Yang C.C., Huang L.W., Chang M.H., Lee I.H., Antonellis A., Lee Y.C.
    PLoS ONE 6:E29393-E29393(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMT2K ARG-256 AND HIS-282.

Entry informationi

Entry nameiGDAP1_HUMAN
AccessioniPrimary (citable) accession number: Q8TB36
Secondary accession number(s): A8K957, E7FJF3, E7FJF4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: November 24, 2009
Last modified: October 29, 2014
This is version 119 of the entry and version 3 of the sequence. [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

Caution

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3