Homo sapiens (human): 54332
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Entry
54332 CDS
T01001
Symbol
GDAP1, CMT4, CMT4A, CMTRIA
Name
(RefSeq) ganglioside-induced differentiation-associated protein 1 isoform a
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
Ortholog
Paralog
GFIT
Motif
Pfam:
GST_N_3
GST_N
GST_N_2
GST_C_2
GST_C
GST_C_3
Tom37
SPICE
CCDC61_coil
GST_N_4
ARCH_RTEL1
Motif
Other DBs
NCBI-GeneID:
54332
NCBI-ProteinID:
NP_061845
OMIM:
606598
HGNC:
15968
Ensembl:
ENSP00000220822.7
UniProt:
Q8TB36
Structure
PDB
PDBj
LinkDB
All DBs
Position
8:74350403..74488872
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AA seq
358 aa
AA seq
DB search
MAERQEEQRGSPPLRAEGKADAEVKLILYHWTHSFSSQKVRLVIAEKALKCEEHDVSLPL
SEHNEPWFMRLNSTGEVPVLIHGENIICEATQIIDYLEQTFLDERTPRLMPDKESMYYPR
VQHYRELLDSLPMDAYTHGCILHPELTVDSMIPAYATTRIRSQIGNTESELKKLAEENPD
LQEAYIAKQKRLKSKLLDHDNVKYLKKILDELEKVLDQVETELQRRNEETPEEGQQPWLC
GESFTLADVSLAVTLHRLKFLGFARRNWGNGKRPNLETYYERVLKRKTFNKVLGHVNNIL
ISAVLPTAFRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMILAFRPRPNYF
NT seq
1077 nt
NT seq
+upstream
nt +downstream
nt
atggctgagaggcaggaagagcagagagggagcccgcccttgagggcggaaggcaaggcc
gacgcggaggttaagctcattctgtaccattggacgcattccttcagctctcaaaaggtg
cgcttggtaattgctgaaaaggcattgaagtgcgaggaacatgatgtaagtctgcccttg
agtgagcacaatgagccttggtttatgcgtttgaactcaactggagaagtgcctgtcctt
atccacggggaaaacataatttgtgaggccactcagatcattgattatcttgaacagact
ttcctggatgaaagaacacccaggttaatgcctgataaagaaagcatgtattacccacgg
gtacaacattaccgagagctgcttgactccttgccaatggatgcctatacacatggctgc
attttacatcctgagttaactgtggactccatgatcccggcttatgcaactacaaggatt
cgtagccaaattggaaacacagagtctgagctgaagaaacttgctgaagaaaacccagat
ttacaagaagcatacattgcaaaacagaaacgacttaaatcaaagctgcttgatcatgac
aatgtcaagtatttgaagaaaattcttgatgagttggagaaagtcttggatcaggttgaa
actgaattgcaaagaagaaatgaagaaaccccagaagagggccagcaaccttggctctgc
ggtgaatccttcaccctggcagacgtctcactcgctgtcacattgcatcgactgaagttc
ctggggtttgcaaggagaaactggggaaacggaaagcgaccaaacttggaaacctattac
gagcgtgtcttgaagagaaaaacatttaacaaggttttaggacatgtcaacaatatatta
atctctgcagtgctgccaacagcattccgggtggccaagaaaagggccccaaaagttctt
ggcacgacccttgtggttggtttgcttgcaggagtgggatattttgcttttatgcttttc
agaaagaggcttggcagcatgatattagcatttagacccagaccaaattatttctag
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