KEGG   Homo sapiens (human): 55623
Entry
55623             CDS       T01001                                 
Symbol
THUMPD1, NEDSOA, Tan1
Name
(RefSeq) THUMP domain containing 1
  KO
K06963  tRNA acetyltransferase TAN1
Organism
hsa  Homo sapiens (human)
Disease
H02459  Syndromic neurodevelopmental disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03016 Transfer RNA biogenesis [BR:hsa03016]
    55623 (THUMPD1)
Transfer RNA biogenesis [BR:hsa03016]
 Eukaryotic type
  tRNA modification factors
   Other tRNA modification factors
    55623 (THUMPD1)
SSDB
Motif
Pfam: THUMP DUF1796
Other DBs
NCBI-GeneID: 55623
NCBI-ProteinID: NP_001291479
OMIM: 616662
HGNC: 23807
Ensembl: ENSG00000066654
UniProt: Q9NXG2 Q6MZT3
Position
16:complement(20733664..20741818)
AA seq 353 aa
MAAPAQQTTQPGGGKRKGKAQYVLAKRARRCDAGGPRQLEPGLQGILITCNMNERKCVEE
AYSLLNEYGDDMYGPEKFTDKDQQPSGSEGEDDDAEAALKKEVGDIKASTEMRLRRFQSV
ESGANNVVFIRTLGIEPEKLVHHILQDMYKTKKKKTRVILRMLPISGTCKAFLEDMKKYA
ETFLEPWFKAPNKGTFQIVYKSRNNSHVNREEVIRELAGIVCTLNSENKVDLTNPQYTVV
VEIIKAVCCLSVVKDYMLFRKYNLQEVVKSPKDPSQLNSKQGNGKEAKLESADKSDQNNT
AEGKNNQQVPENTEELGQTKPTSNPQVVNEGGAKPELASQATEGSKSNENDFS
NT seq 1062 nt   +upstreamnt  +downstreamnt
atggcggcccctgcccagcagactactcagcctggcggcgggaagcgcaaaggcaaggct
cagtatgtgctggccaagcgcgctcggcgctgcgacgctggcgggccccgtcagctagag
cccgggctacagggcatcctcatcacctgcaatatgaacgagcgcaagtgcgtggaggag
gcctacagcctcctcaacgaatacggcgacgacatgtatgggccagaaaagtttacagac
aaggatcagcagccctctggaagtgagggagaggatgatgatgcggaggctgccttgaag
aaagaagttggtgacattaaggcatctacagagatgaggttaagaagattccagtcagtg
gaaagtggagcaaataacgttgtcttcatcaggacacttgggatagagcctgagaaattg
gtgcatcatattctccaggatatgtacaaaaccaagaaaaagaagactcgagttattttg
cgaatgttacccatctcaggcacatgcaaggcttttttagaagatatgaaaaaatatgca
gaaacatttttggaaccctggtttaaagctccaaacaaagggacatttcagattgtgtac
aaatctcgaaataacagtcatgtgaatagagaagaagttatcagagaattggcaggaata
gtgtgcaccctcaattcagaaaataaagtggatctcaccaatccacagtacacagtggta
gtagaaatcatcaaagctgtctgttgcctgagtgttgtgaaagattacatgttgtttaga
aaatacaatctccaggaggtggtgaagagccctaaggatccgtcacagcttaactcaaag
cagggaaatgggaaagaagctaaactggaatctgcggacaaatcagaccaaaacaacaca
gcagaaggaaaaaataaccagcaggtaccagagaatactgaggagctggggcagacaaaa
ccaacgtctaatccacaggtggtaaatgagggaggagccaaacctgaacttgcaagtcaa
gccacagaaggatccaagtcaaatgaaaatgacttctcatag

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