KEGG   Homo sapiens (human): 54414
Entry
54414             CDS       T01001                                 
Symbol
SIAE, AIS6, CSE-C, CSEC, LSE, YSG2
Name
(RefSeq) sialic acid acetylesterase
  KO
K05970  sialate O-acetylesterase [EC:3.1.1.53]
Organism
hsa  Homo sapiens (human)
Disease
H01232  Syndromic multisystem autoimmune disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09190 Not Included in Pathway or Brite
  09191 Unclassified: metabolism
   99980 Enzymes with EC numbers
    54414 (SIAE)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.1  Acting on ester bonds
   3.1.1  Carboxylic-ester hydrolases
    3.1.1.53  sialate O-acetylesterase
     54414 (SIAE)
SSDB
Motif
Pfam: SASA Big_6
Other DBs
NCBI-GeneID: 54414
NCBI-ProteinID: NP_733746
OMIM: 610079
HGNC: 18187
Ensembl: ENSG00000110013
UniProt: Q9HAT2
Position
11:complement(124633113..124676303)
AA seq 523 aa
MVAPGLVLGLVLPLILWADRSAGIGFRFASYINNDMVLQKEPAGAVIWGFGTPGATVTVT
LRQGQETIMKKVTSVKAHSDTWMVVLDPMKPGGPFEVMAQQTLEKINFTLRVHDVLFGDV
WLCSGQSNMQMTVLQIFNATRELSNTAAYQSVRILSVSPIQAEQELEDLVAVDLQWSKPT
SENLGHGYFKYMSAVCWLFGRHLYDTLQYPIGLIASSWGGTPIEAWSSGRSLKACGVPKQ
GSIPYDSVTGPSKHSVLWNAMIHPLCNMTLKGVVWYQGESNINYNTDLYNCTFPALIEDW
RETFHRGSQGQTERFFPFGLVQLSSDLSKKSSDDGFPQIRWHQTADFGYVPNPKMPNTFM
AVAMDLCDRDSPFGSIHPRDKQTVAYRLHLGARALAYGEKNLTFEGPLPEKIELLAHKGL
LNLTYYQQIQVQKKDNKIFEISCCSDHRCKWLPASMNTVSTQSLTLAIDSCHGTVVALRY
AWTTWPCEYKQCPLYHPSSALPAPPFIAFITDQGPGHQSNVAK
NT seq 1572 nt   +upstreamnt  +downstreamnt
atggtcgcgccggggcttgtactcgggctggtgctgccattaatcctgtgggccgacaga
agtgcaggtattggttttcgctttgcttcatacatcaataatgatatggtgctgcagaag
gagcctgctggggcagtgatatggggcttcggtacacctggagccacagtgaccgtgacc
ctgcgccaaggtcaggaaaccatcatgaagaaagtgaccagtgtgaaagctcactctgat
acgtggatggtggtactggatcctatgaagcctggaggacctttcgaagtgatggcacaa
cagactttggagaaaataaacttcaccctgagagttcatgacgtcctgtttggagatgtc
tggctctgtagtgggcagagtaacatgcagatgactgtgttacagatatttaatgctaca
agggagttgtctaacactgcggcatatcagtctgtccgcatcctctctgtctctcccatt
caagcagagcaggagctggaggaccttgttgcggttgacttgcagtggtctaagcccacc
tcagaaaacttaggccatggatatttcaagtacatgtcagcagtgtgctggctctttgga
cgtcacctttatgacactctgcagtatcccatcgggctgatcgcctccagctggggcggg
acacccattgaagcctggtcatctggacggtcactgaaagcctgtggggtccctaaacaa
gggtccattccatacgattctgtaactggtcccagtaagcactctgttctctggaatgcc
atgatccatccactgtgcaatatgactctgaaaggggtagtatggtaccagggggagtcc
aatataaattataacacggatctgtacaattgcacattccctgcactcatcgaagactgg
cgtgaaaccttccaccgtggttcccaggggcagacggagcgtttcttcccatttggactt
gtccagttatcttcagatttgtctaagaagagctcagacgatggatttccccagatccgt
tggcatcaaacagcagacttcggctatgtccccaacccaaagatgcccaatactttcatg
gctgtagctatggatctctgtgatagagactcgccttttggcagcatccaccctcgagat
aaacagactgtggcttatcggctgcatttgggggcccgtgctctggcttatggtgagaag
aatttgacctttgaaggaccactgcctgagaagatagaactcttggctcacaaggggctg
ctcaatctcacatattaccagcaaatccaggtgcagaaaaaggacaacaagatatttgag
atctcctgttgcagtgaccatcgatgcaagtggcttccagcttctatgaacaccgtctcc
acccagtccctgaccctggcgatcgattcttgtcatggcactgtggttgctctccgctat
gcttggaccacgtggccttgtgaatataagcagtgtcccctataccaccccagtagtgcc
ctgccagcccctcccttcattgctttcattacagaccagggtcctggacatcagagcaat
gttgctaaatga

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Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (26)   
   KEGG ORTHOLOGY (1)   
   RefGene (18)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (8)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (6)   
DNA sequence (29)   
   RefSeq(nuc) (7)   
   GenBank (11)   
   EMBL (11)   
Protein domain (2)   
   Pfam (2)   
All databases (72)   

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