KEGG   Homo sapiens (human): 79639
Entry
79639             CDS       T01001                                 
Symbol
TMEM53, CTDI, NET4
Name
(RefSeq) transmembrane protein 53
  KO
K28359  transmembrane protein 53
Organism
hsa  Homo sapiens (human)
Pathway
hsa04350  TGF-beta signaling pathway
Disease
H02558  Craniotubular dysplasia, Ikegawa type
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04350 TGF-beta signaling pathway
    79639 (TMEM53)
SSDB
Motif
Pfam: DUF829
Other DBs
NCBI-GeneID: 79639
NCBI-ProteinID: NP_078863
OMIM: 619722
HGNC: 26186
Ensembl: ENSG00000126106
UniProt: Q6P2H8
LinkDB
Position
1:complement(44653247..44674481)
AA seq 277 aa
MASAELDYTIEIPDQPCWSQKNSPSPGGKEAETRQPVVILLGWGGCKDKNLAKYSAIYHK
RGCIVIRYTAPWHMVFFSESLGIPSLRVLAQKLLELLFDYEIEKEPLLFHVFSNGGVMLY
RYVLELLQTRRFCRLRVVGTIFDSAPGDSNLVGALRALAAILERRAAMLRLLLLVAFALV
VVLFHVLLAPITALFHTHFYDRLQDAGSRWPELYLYSRADEVVLARDIERMVEARLARRV
LARSVDFVSSAHVSHLRDYPTYYTSLCVDFMRNCVRC
NT seq 834 nt   +upstreamnt  +downstreamnt
atggcctcggcagagctggactacaccatcgagatcccggatcagccctgctggagccag
aagaacagccccagcccaggtgggaaggaggcagaaactcggcagcctgtggtgattctc
ttgggctggggtggctgcaaggacaagaaccttgccaagtacagtgccatctaccacaaa
aggggctgcatcgtaatccgatacacagccccgtggcacatggtcttcttctccgagtca
ctgggtatcccttcacttcgtgttttggcccagaagctgctcgagctgctctttgattat
gagattgagaaggagcccctgctcttccatgtcttcagcaacggtggcgtcatgctgtac
cgctacgtgctggagctcctgcagacccgtcgcttctgccgcctgcgtgtggtgggcacc
atctttgacagcgctcctggtgacagcaacctggtaggggctctgcgggccctggcagcc
atcctggagcgccgggccgccatgctgcgcctgttgctgctggtggcctttgccctggtg
gtcgtcctgttccacgtcctgcttgctcccatcacagccctcttccacacccacttctat
gacaggctacaggacgcgggctctcgctggcccgagctctacctctactcgagggctgac
gaagtagtcctggccagagacatagaacgcatggtggaggcacgcctggcacgccgggtc
ctggcgcgttctgtggatttcgtgtcatctgcacacgtcagccacctccgtgactaccct
acttactacacaagcctctgtgtcgacttcatgcgcaactgcgtccgctgctga

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