Homo sapiens (human): 10430
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Entry
10430 CDS
T01001
Symbol
TMEM147, NEDFLPH, NIFIE14
Name
(RefSeq) transmembrane protein 147
KO
K26498
BOS complex subunit TMEM147
Organism
hsa
Homo sapiens (human)
Disease
H02535
Neurodevelopmental disorder with dysmorphic facies
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09182 Protein families: genetic information processing
04131 Membrane trafficking [BR:
hsa04131
]
10430 (TMEM147)
Membrane trafficking [BR:
hsa04131
]
Endoplasmic reticulum (ER) - Golgi transport
Others
Multi-pass translocon (MPT) complex
10430 (TMEM147)
BRITE hierarchy
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Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
DUF2053
Motif
Other DBs
NCBI-GeneID:
10430
NCBI-ProteinID:
NP_116024
OMIM:
613585
HGNC:
30414
Ensembl:
ENSG00000105677
UniProt:
Q9BVK8
Structure
PDB
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All DBs
Position
19:35545626..35547526
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AA seq
224 aa
AA seq
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MTLFHFGNCFALAYFPYFITYKCSGLSEYNAFWKCVQAGVTYLFVQLCKMLFLATFFPTW
EGGIYDFIGEFMKASVDVADLIGLNLVMSRNAGKGEYKIMVAALGWATAELIMSRCIPLW
VGARGIEFDWKYIQMSIDSNISLVHYIVASAQVWMITRYDLYHTFRPAVLLLMFLSVYKA
FVMETFVHLCSLGSWAALLARAVVTGLLALSTLALYVAVVNVHS
NT seq
675 nt
NT seq
+upstream
nt +downstream
nt
atgaccctgtttcacttcgggaactgcttcgctcttgcctacttcccctacttcatcacc
tacaagtgcagcggcctgtccgagtacaacgccttctggaaatgcgtccaggctggagtc
acctacctctttgtccaactctgcaagatgctgttcttggccactttctttcccacctgg
gaaggcggcatctatgacttcattggggagttcatgaaggccagcgtggatgtggcagac
ctgataggtctaaaccttgtcatgtcccggaatgccggcaagggagagtacaagatcatg
gttgctgccctgggctgggccactgctgagcttattatgtcccgctgcattcccctatgg
gtcggagcccggggcattgagtttgactggaagtacatccagatgagcatagactccaac
atcagtctggtccattacatcgtcgcgtctgctcaggtctggatgataacacgctatgat
ctgtaccacaccttccggccagctgtcctcctgctgatgttcctcagtgtctacaaggcc
tttgttatggagaccttcgtccacctctgctcgctgggcagttgggcagctctactggcc
cgagcagtggtaacggggctgctggccctcagcactttggccctgtatgtcgccgttgtc
aatgtgcactcctag
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