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Q8TB36

- GDAP1_HUMAN

UniProt

Q8TB36 - GDAP1_HUMAN

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
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    • History
      Entry version 118 (01 Oct 2014)
      Sequence version 3 (24 Nov 2009)
      Previous versions | rss
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    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

    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

    GO - Cellular componenti

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

    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

    ArrayExpressiQ8TB36.
    BgeeiQ8TB36.
    CleanExiHS_GDAP1.
    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...

    Transmembrane

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

    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.
    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

    MAERQEEQRG SPPLRAEGKA DAEVKLILYH WTHSFSSQKV RLVIAEKALK    50
    CEEHDVSLPL SEHNEPWFMR LNSTGEVPVL IHGENIICEA TQIIDYLEQT 100
    FLDERTPRLM PDKESMYYPR VQHYRELLDS LPMDAYTHGC ILHPELTVDS 150
    MIPAYATTRI RSQIGNTESE LKKLAEENPD LQEAYIAKQK RLKSKLLDHD 200
    NVKYLKKILD ELEKVLDQVE TELQRRNEET PEEGQQPWLC GESFTLADVS 250
    LAVTLHRLKF LGFARRNWGN GKRPNLETYY ERVLKRKTFN KVLGHVNNIL 300
    ISAVLPTAFR VAKKRAPKVL GTTLVVGLLA GVGYFAFMLF RKRLGSMILA 350
    FRPRPNYF 358
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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 GC08P075276.
    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.
    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

    ArrayExpressi Q8TB36.
    Bgeei Q8TB36.
    CleanExi HS_GDAP1.
    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

    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 1, 2014
    This is version 118 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