KEGG   Homo sapiens (human): 10430
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)
SSDB
Motif
Pfam: DUF2053
Other DBs
NCBI-GeneID: 10430
NCBI-ProteinID: NP_116024
OMIM: 613585
HGNC: 30414
Ensembl: ENSG00000105677
UniProt: Q9BVK8
Structure
Position
19:35545626..35547526
AA seq 224 aa
MTLFHFGNCFALAYFPYFITYKCSGLSEYNAFWKCVQAGVTYLFVQLCKMLFLATFFPTW
EGGIYDFIGEFMKASVDVADLIGLNLVMSRNAGKGEYKIMVAALGWATAELIMSRCIPLW
VGARGIEFDWKYIQMSIDSNISLVHYIVASAQVWMITRYDLYHTFRPAVLLLMFLSVYKA
FVMETFVHLCSLGSWAALLARAVVTGLLALSTLALYVAVVNVHS
NT seq 675 nt   +upstreamnt  +downstreamnt
atgaccctgtttcacttcgggaactgcttcgctcttgcctacttcccctacttcatcacc
tacaagtgcagcggcctgtccgagtacaacgccttctggaaatgcgtccaggctggagtc
acctacctctttgtccaactctgcaagatgctgttcttggccactttctttcccacctgg
gaaggcggcatctatgacttcattggggagttcatgaaggccagcgtggatgtggcagac
ctgataggtctaaaccttgtcatgtcccggaatgccggcaagggagagtacaagatcatg
gttgctgccctgggctgggccactgctgagcttattatgtcccgctgcattcccctatgg
gtcggagcccggggcattgagtttgactggaagtacatccagatgagcatagactccaac
atcagtctggtccattacatcgtcgcgtctgctcaggtctggatgataacacgctatgat
ctgtaccacaccttccggccagctgtcctcctgctgatgttcctcagtgtctacaaggcc
tttgttatggagaccttcgtccacctctgctcgctgggcagttgggcagctctactggcc
cgagcagtggtaacggggctgctggccctcagcactttggccctgtatgtcgccgttgtc
aatgtgcactcctag

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