Homo sapiens (human): 10430
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Entry
10430 CDS
T01001
Symbol
TMEM147, NEDFLPH, NIFIE14
Name
(RefSeq) BOS complex subunit TMEM147 isoform 1
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)
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Ortholog
Paralog
GFIT
Motif
Pfam:
DUF2053
Motif
Other DBs
NCBI-GeneID:
10430
NCBI-ProteinID:
NP_116024
OMIM:
613585
HGNC:
30414
Ensembl:
ENSP00000222284.4
UniProt:
Q9BVK8
Structure
PDB
PDBj
LinkDB
All DBs
Position
19:35545626..35547526
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AA seq
224 aa
AA seq
DB search
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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