Homo sapiens (human): 79639
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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)
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Gene cluster
GFIT
Motif
Pfam:
DUF829
Motif
Other DBs
NCBI-GeneID:
79639
NCBI-ProteinID:
NP_078863
OMIM:
619722
HGNC:
26186
Ensembl:
ENSG00000126106
UniProt:
Q6P2H8
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Position
1:complement(44653247..44674481)
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AA seq
277 aa
AA seq
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MASAELDYTIEIPDQPCWSQKNSPSPGGKEAETRQPVVILLGWGGCKDKNLAKYSAIYHK
RGCIVIRYTAPWHMVFFSESLGIPSLRVLAQKLLELLFDYEIEKEPLLFHVFSNGGVMLY
RYVLELLQTRRFCRLRVVGTIFDSAPGDSNLVGALRALAAILERRAAMLRLLLLVAFALV
VVLFHVLLAPITALFHTHFYDRLQDAGSRWPELYLYSRADEVVLARDIERMVEARLARRV
LARSVDFVSSAHVSHLRDYPTYYTSLCVDFMRNCVRC
NT seq
834 nt
NT seq
+upstream
nt +downstream
nt
atggcctcggcagagctggactacaccatcgagatcccggatcagccctgctggagccag
aagaacagccccagcccaggtgggaaggaggcagaaactcggcagcctgtggtgattctc
ttgggctggggtggctgcaaggacaagaaccttgccaagtacagtgccatctaccacaaa
aggggctgcatcgtaatccgatacacagccccgtggcacatggtcttcttctccgagtca
ctgggtatcccttcacttcgtgttttggcccagaagctgctcgagctgctctttgattat
gagattgagaaggagcccctgctcttccatgtcttcagcaacggtggcgtcatgctgtac
cgctacgtgctggagctcctgcagacccgtcgcttctgccgcctgcgtgtggtgggcacc
atctttgacagcgctcctggtgacagcaacctggtaggggctctgcgggccctggcagcc
atcctggagcgccgggccgccatgctgcgcctgttgctgctggtggcctttgccctggtg
gtcgtcctgttccacgtcctgcttgctcccatcacagccctcttccacacccacttctat
gacaggctacaggacgcgggctctcgctggcccgagctctacctctactcgagggctgac
gaagtagtcctggccagagacatagaacgcatggtggaggcacgcctggcacgccgggtc
ctggcgcgttctgtggatttcgtgtcatctgcacacgtcagccacctccgtgactaccct
acttactacacaagcctctgtgtcgacttcatgcgcaactgcgtccgctgctga
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