KEGG   Homo sapiens (human): 8270
Entry
8270              CDS       T01001                                 
Symbol
LAGE3, CVG5, DXS9879E, DXS9951E, ESO3, GAMOS2, ITBA2, Pcc1
Name
(RefSeq) L antigen family member 3
  KO
K15902  EKC/KEOPS complex subunit LAGE3/PCC1
Organism
hsa  Homo sapiens (human)
Disease
H01722  Galloway-Mowat syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03016 Transfer RNA biogenesis [BR:hsa03016]
    8270 (LAGE3)
Transfer RNA biogenesis [BR:hsa03016]
 Eukaryotic type
  tRNA modification factors
   KEOPS/EKC complex
    8270 (LAGE3)
SSDB
Motif
Pfam: Pcc1
Other DBs
NCBI-GeneID: 8270
NCBI-ProteinID: NP_006005
OMIM: 300060
HGNC: 26058
Ensembl: ENSG00000196976
UniProt: Q14657
Structure
Position
X:complement(154477775..154479281)
AA seq 143 aa
MRDADADAGGGADGGDGRGGHSCRGGVDTAAAPAGGAPPAHAPGPGRDAASAARGSRMRP
HIFTLSVPFPTPLEAEIAHGSLAPDAEPHQRVVGKDLTVSGRILVVRWKAEDCRLLRISV
INFLDQLSLVVRTMQRFGPPVSR
NT seq 432 nt   +upstreamnt  +downstreamnt
atgcgggacgcggatgcagacgcaggcggaggcgctgacggcggggatggccggggtggc
cacagctgccgcgggggcgtggacacagccgcagctccggccggtggagctcccccagcg
cacgcgccaggtccgggcagagacgccgcgtctgcggccagggggtcacgaatgcggccg
cacatattcaccctcagcgtgcctttcccgacccccttggaggcggaaatcgcccatggg
tccctggcaccagatgccgagccccaccaaagggtggttgggaaggatctcacagtgagt
ggcaggatcctggtcgtccgctggaaagctgaagactgtcgcctgctccgaatttccgtc
atcaactttcttgaccagctttccctggtggtgcggaccatgcagcgctttgggcccccc
gtttcccgctaa

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (33)   
   KEGG ORTHOLOGY (1)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (22)   
   OC (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (11)   
   RefSeq(nuc) (1)   
   GenBank (5)   
   EMBL (5)   
3D Structure (1)   
   PDB (1)   
Protein domain (1)   
   Pfam (1)   
All databases (55)   

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