KEGG   Homo sapiens (human): 4359
Entry
4359              CDS       T01001                                 
Symbol
MPZ, CHM, CHN2, CMT1, CMT1B, CMT2I, CMT2J, CMT4E, CMTDI3, CMTDID, DSS, HMSNIB, MPP, P0
Name
(RefSeq) myelin protein zero
  KO
K06770  myelin protein zero
Organism
hsa  Homo sapiens (human)
Pathway
hsa04514  Cell adhesion molecules
Disease
H00264  Charcot-Marie-Tooth disease
H01155  Roussy-Levy syndrome
H02357  Congenital hypomyelinating neuropathy
H02359  Dejerine-Sottas disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04514 Cell adhesion molecules
    4359 (MPZ)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04515 Cell adhesion molecules [BR:hsa04515]
    4359 (MPZ)
Cell adhesion molecules [BR:hsa04515]
 Immunoglobulin superfamily
  P0
   4359 (MPZ)
SSDB
Motif
Pfam: Myelin-PO_C V-set Ig_2 Ig_3 ig I-set Protocadherin Smim3 Amnionless Mucin15 Tweety
Other DBs
NCBI-GeneID: 4359
NCBI-ProteinID: NP_000521
OMIM: 159440
HGNC: 7225
Ensembl: ENSG00000158887
UniProt: P25189
Structure
Position
1:complement(161303600..161309968)
AA seq 248 aa
MAPGAPSSSPSPILAVLLFSSLVLSPAQAIVVYTDREVHGAVGSRVTLHCSFWSSEWVSD
DISFTWRYQPEGGRDAISIFHYAKGQPYIDEVGTFKERIQWVGDPRWKDGSIVIHNLDYS
DNGTFTCDVKNPPDIVGKTSQVTLYVFEKVPTRYGVVLGAVIGGVLGVVLLLLLLFYVVR
YCWLRRQAALQRRLSAMEKGKLHKPGKDASKRGRQTPVLYAMLDHSRSTKAVSEKKAKGL
GESRKDKK
NT seq 747 nt   +upstreamnt  +downstreamnt
atggctcctggggctccctcatccagccccagccctatcctggctgtgctgctcttctct
tctttggtgctgtccccggcccaggccatcgtggtttacaccgacagggaggtccatggt
gctgtgggctcccgggtgaccctgcactgctccttctggtccagtgagtgggtctcagat
gacatctccttcacctggcgctaccagcccgaagggggcagagatgccatttcgatcttc
cactatgccaagggacaaccctacattgacgaggtggggaccttcaaagagcgcatccag
tgggtaggggaccctcgctggaaggatggctccattgtcatacacaacctagactacagt
gacaatggcacgttcacttgtgacgtcaaaaaccctccagacatagtgggcaagacctct
caggtcacgctgtatgtctttgaaaaagtgccaactaggtacggggtcgttctgggagct
gtgatcgggggtgtcctcggggtggtgctgttgctgctgctgcttttctacgtggttcgg
tactgctggctacgcaggcaggcggccctgcagaggaggctcagtgctatggagaagggg
aaattgcacaagccaggaaaggacgcgtcgaagcgcgggcggcagacgccagtgctgtat
gcaatgctggaccacagcagaagcaccaaagctgtcagtgagaagaaggccaaggggctg
ggggagtctcgcaaggataagaaatag

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