KEGG   Homo sapiens (human): 54332
Entry
54332             CDS       T01001                                 
Symbol
GDAP1, CMT4, CMT4A, CMTRIA
Name
(RefSeq) ganglioside induced differentiation associated protein 1
  KO
K22077  ganglioside-induced differentiation-associated protein 1
Organism
hsa  Homo sapiens (human)
Disease
H00264  Charcot-Marie-Tooth disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    54332 (GDAP1)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Mitochondrial dynamics
   Fission and Fusion factors
    54332 (GDAP1)
SSDB
Motif
Pfam: GST_N_3 GST_N GST_N_2 GST_C_2 GST_C GST_C_3 Tom37 SPICE GST_N_4 DUF4296
Other DBs
NCBI-GeneID: 54332
NCBI-ProteinID: NP_061845
OMIM: 606598
HGNC: 15968
Ensembl: ENSG00000104381
UniProt: Q8TB36
Structure
Position
8:74350403..74488872
AA seq 358 aa
MAERQEEQRGSPPLRAEGKADAEVKLILYHWTHSFSSQKVRLVIAEKALKCEEHDVSLPL
SEHNEPWFMRLNSTGEVPVLIHGENIICEATQIIDYLEQTFLDERTPRLMPDKESMYYPR
VQHYRELLDSLPMDAYTHGCILHPELTVDSMIPAYATTRIRSQIGNTESELKKLAEENPD
LQEAYIAKQKRLKSKLLDHDNVKYLKKILDELEKVLDQVETELQRRNEETPEEGQQPWLC
GESFTLADVSLAVTLHRLKFLGFARRNWGNGKRPNLETYYERVLKRKTFNKVLGHVNNIL
ISAVLPTAFRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMILAFRPRPNYF
NT seq 1077 nt   +upstreamnt  +downstreamnt
atggctgagaggcaggaagagcagagagggagcccgcccttgagggcggaaggcaaggcc
gacgcggaggttaagctcattctgtaccattggacgcattccttcagctctcaaaaggtg
cgcttggtaattgctgaaaaggcattgaagtgcgaggaacatgatgtaagtctgcccttg
agtgagcacaatgagccttggtttatgcgtttgaactcaactggagaagtgcctgtcctt
atccacggggaaaacataatttgtgaggccactcagatcattgattatcttgaacagact
ttcctggatgaaagaacacccaggttaatgcctgataaagaaagcatgtattacccacgg
gtacaacattaccgagagctgcttgactccttgccaatggatgcctatacacatggctgc
attttacatcctgagttaactgtggactccatgatcccggcttatgcaactacaaggatt
cgtagccaaattggaaacacagagtctgagctgaagaaacttgctgaagaaaacccagat
ttacaagaagcatacattgcaaaacagaaacgacttaaatcaaagctgcttgatcatgac
aatgtcaagtatttgaagaaaattcttgatgagttggagaaagtcttggatcaggttgaa
actgaattgcaaagaagaaatgaagaaaccccagaagagggccagcaaccttggctctgc
ggtgaatccttcaccctggcagacgtctcactcgctgtcacattgcatcgactgaagttc
ctggggtttgcaaggagaaactggggaaacggaaagcgaccaaacttggaaacctattac
gagcgtgtcttgaagagaaaaacatttaacaaggttttaggacatgtcaacaatatatta
atctctgcagtgctgccaacagcattccgggtggccaagaaaagggccccaaaagttctt
ggcacgacccttgtggttggtttgcttgcaggagtgggatattttgcttttatgcttttc
agaaagaggcttggcagcatgatattagcatttagacccagaccaaattatttctag

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