KEGG   Homo sapiens (human): 4668Help
Entry
4668              CDS       T01001                                 

Gene name
NAGA, D22S674, GALB
Definition
(RefSeq) alpha-N-acetylgalactosaminidase
  KO
K01204  alpha-N-acetylgalactosaminidase [EC:3.2.1.49]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00603  Glycosphingolipid biosynthesis - globo and isoglobo series
hsa01100  Metabolic pathways
hsa04142  Lysosome
Disease
H00146  Alpha-N-acetylgalactosaminidase deficiency
H00422  Glycoproteinoses
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  Glycan biosynthesis and metabolism
   00603 Glycosphingolipid biosynthesis - globo and isoglobo series
    4668 (NAGA)
 Cellular Processes
  Transport and catabolism
   04142 Lysosome
    4668 (NAGA)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.2  Glycosylases
   3.2.1  Glycosidases, i.e. enzymes that hydrolyse O- and S-glycosyl compounds
    3.2.1.49  alpha-N-acetylgalactosaminidase
     4668 (NAGA)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Melibiase_2 Melibiase_2_C Melibiase
Motif
Other DBs
NCBI-GeneID: 4668
NCBI-ProteinID: NP_000253
OMIM: 104170
HGNC: 7631
Ensembl: ENSG00000198951
Vega: OTTHUMG00000151276
Pharos: P17050(Tbio)
UniProt: P17050 A0A024R1Q5
Structure
PDB: 

Position
22q13.2
AA seq 411 aa AA seqDB search
MLLKTVLLLGHVAQVLMLDNGLLQTPPMGWLAWERFRCNINCDEDPKNCISEQLFMEMAD
RMAQDGWRDMGYTYLNIDDCWIGGRDASGRLMPDPKRFPHGIPFLADYVHSLGLKLGIYA
DMGNFTCMGYPGTTLDKVVQDAQTFAEWKVDMLKLDGCFSTPEERAQGYPKMAAALNATG
RPIAFSCSWPAYEGGLPPRVNYSLLADICNLWRNYDDIQDSWWSVLSILNWFVEHQDILQ
PVAGPGHWNDPDMLLIGNFGLSLEQSRAQMALWTVLAAPLLMSTDLRTISAQNMDILQNP
LMIKINQDPLGIQGRRIHKEKSLIEVYMRPLSNKASALVFFSCRTDMPYRYHSSLGQLNF
TGSVIYEAQDVYSGDIISGLRDETNFTVIINPSGVVMWYLYPIKNLEMSQQ
NT seq 1236 nt NT seq  +upstreamnt  +downstreamnt
atgctgctgaagacagtgctcttgctgggacatgtggcccaggtgctgatgctggacaat
gggctcctgcagacaccacccatgggctggctggcctgggaacgcttccgctgcaacatt
aactgtgatgaggacccaaagaactgcataagtgaacagctcttcatggagatggctgac
cggatggcacaggatggatggcgggacatgggctacacatacctcaacattgatgactgc
tggatcggtggtcgcgatgccagtggccgcctgatgccggatcccaagcgcttccctcat
ggcattcctttcctggctgactacgttcactccctgggcctgaagttgggtatctacgcg
gacatgggcaacttcacctgcatgggttacccaggcaccacactggacaaggtggtccag
gatgctcagaccttcgccgagtggaaggtagacatgctcaagctggatggctgcttctcc
acccccgaggagcgggcccaggggtaccccaagatggctgctgccctgaatgccacaggc
cgccccatcgccttctcctgcagctggccagcctatgaaggcggcctccccccaagggtg
aactacagtctgctggcggacatctgcaacctctggcgtaactatgatgacatccaggac
tcctggtggagcgtgctctccatcctgaattggttcgtggagcaccaggacatactgcag
ccagtggccggccctgggcactggaatgaccctgacatgctgctcattgggaactttggt
ctcagcttagagcaatcccgggcccagatggccctgtggacggtgctggcagcccccctc
ttgatgtccacagacctgcgtaccatctccgcccagaacatggacattctgcagaatcca
ctcatgatcaaaatcaaccaggatcccttaggcatccagggacgcaggattcacaaggaa
aaatctctcatcgaagtgtacatgcggcctctgtccaacaaggctagcgccttagtcttc
ttcagctgcaggaccgatatgccttatcgctaccactcctcccttggccagctgaacttc
accgggtctgtgatatatgaggcccaggacgtctactcaggtgacatcatcagtggcctc
cgagatgaaaccaacttcacagtgatcatcaacccttcaggggtagtgatgtggtacctg
tatcccatcaagaacctggagatgtcccagcagtga

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