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
Pharos: Q9NXG2(Tbio)
UniProt: Q9NXG2 Q6MZT3
Structure
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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Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (10)   
   KEGG ORTHOLOGY (1)   
   RefGene (1)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
   PHAROS (1)   
Protein sequence (5)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (12)   
   RefSeq(nuc) (2)   
   GenBank (5)   
   EMBL (5)   
3D Structure (1)   
   PDB (1)   
Protein domain (2)   
   Pfam (2)   
All databases (36)   

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