Hmdb loader
Identification
HMDB Protein ID HMDBP03692
Secondary Accession Numbers
  • 9280
Name Putative N-acetylglucosamine-6-phosphate deacetylase
Synonyms
  1. Amidohydrolase domain-containing protein 2
  2. GlcNAc 6-P deacetylase
Gene Name AMDHD2
Protein Type Enzyme
Biological Properties
General Function Involved in hydrolase activity
Specific Function Hydrolyzes the N-glycolyl group from N-glycolylglucosamine 6-phosphate (GlcNGc-6-P) in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway. Although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded.
Pathways
  • Amino sugar and nucleotide sugar metabolism
  • Amino Sugar Metabolism
  • G(M2)-Gangliosidosis: Variant B, Tay-sachs disease
  • N-acetylneuraminate degradation
  • Salla Disease/Infantile Sialic Acid Storage Disease
  • Sialuria or French Type Sialuria
  • Tay-Sachs Disease
Reactions
N-Acetyl-D-Glucosamine 6-Phosphate + Water → Glucosamine 6-phosphate + Acetic acid details
GO Classification
Biological Process
N-acetylneuraminate catabolic process
N-acetylglucosamine metabolic process
carbohydrate metabolic process
Function
catalytic activity
hydrolase activity
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides
n-acetylglucosamine-6-phosphate deacetylase activity
Molecular Function
metal ion binding
N-acetylglucosamine-6-phosphate deacetylase activity
Process
metabolic process
small molecule metabolic process
alcohol metabolic process
monosaccharide metabolic process
amino sugar metabolic process
glucosamine metabolic process
n-acetylglucosamine metabolic process
Cellular Location
  1. Cytoplasmic
Gene Properties
Chromosome Location 16
Locus 16p13.3
SNPs AMDHD2
Gene Sequence
>1320 bp
ATGCGCGGCGAGCAGGGCGCGGCGGGGGCCCGCGTGCTCCAGTTCACTAACTGCCGGATC
CTGCGCGGAGGGAAACTGCTCAGGGAGGATCTGTGGGTGCGCGGAGGCCGCATCTTGGAC
CCAGAGAAGCTGTTCTTTGAGGAGCGGCGCGTGGCCGACGAGCGGCGGGACTGCGGGGGC
CGCATCTTGGCTCCCGGATTCATCGACGTGCAGATCAACGGTGGATTTGGTGTTGACTTC
TCTCAAGCCACGGAGGACGTGGGTTCGGGGGTTGCCCTCGTGGCCCGGAGGATCCTGTCG
CACGGCGTCACCTCCTTCTGCCCCACCCTGGTCACTTCCCCACCGGAGGTTTATCACAAG
GTTGTTCCTCAGATCCCTGTGAAGAGTGGTGGTCCCCATGGGGCAGGGGTCCTCGGGCTG
CACCTGGAGGGCCCCTTCATCAGCCGGGAGAAGCGGGGCGCGCACCCCGAGGCCCACCTC
CGCTCCTTCGAGGCCGATGCCTTCCAGGACTTGCTGGCCACCTACGGGCCCCTGGACAAT
GTCCGCATCGTGACGCTGGCCCCAGAGTTGGGCCGTAGCCACGAAGTGATCCGGGCGCTG
ACGGCCCGTGGCATCTGCGTGTCCCTAGGGCACTCAGTGGCTGACCTGCGGGCGGCAGAG
GATGCTGTGTGGAGCGGAGCCACCTTCATCACCCACCTCTTCAACGCCATGCTGCCTTTC
CACCACCGCGACCCAGGCATCGTGGGGCTCCTGACCAGCGACCGGCTGCCCGCAGGCCGC
TGCATCTTCTATGGGATGATTGCAGATGGCACGCACACCAACCCCGCCGCCCTGCGGATC
GCCCACCGTGCCCATCCCCAGGGGCTGGTGCTGGTCACCGATGCCATCCCTGCCTTGGGC
CTGGGCAACGGCCGGCACACGCTGGGACAGCAGGAAGTGGAAGTGGACGGTCTGACGGCC
TACGTGGCAGGTGAGCGCCCTGACCCACTGGGTCCCAGGTCCCAGCCCGCATGCCAGGTG
GCCCACGACCCCCCCAGAGCCTGCCCTCTCTGCTCTCAAGGCACCAAGACGCTGAGTGGC
AGCATAGCCCCAATGGACGTCTGTGTCCGGCACTTCCTGCAGGCCACAGGCTGCAGCATG
GAGTCGGCCCTGGAGGCTGCATCCCTGCACCCCGCCCAGTTGCTGGGGCTGGAGAAGAGT
AAGGGGACCCTGGACTTTGGTGCTGACGCAGACTTCGTGGTGCTCGACGACTCCCTTCAC
GTCCAGGCCACCTACATCTCGGGTGAGCTGGTGTGGCAGGCGGACGCAGCTAGGCAGTGA
Protein Properties
Number of Residues 409
Molecular Weight 63594.415
Theoretical pI 7.526
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Putative N-acetylglucosamine-6-phosphate deacetylase
MRGEQGAAGARVLQFTNCRILRGGKLLREDLWVRGGRILDPEKLFFEERRVADERRDCGG
RILAPGFIDVQINGGFGVDFSQATEDVGSGVALVARRILSHGVTSFCPTLVTSPPEVYHK
VVPQIPVKSGGPHGAGVLGLHLEGPFISREKRGAHPEAHLRSFEADAFQDLLATYGPLDN
VRIVTLAPELGRSHEVIRALTARGICVSLGHSVADLRAAEDAVWSGATFITHLFNAMLPF
HHRDPGIVGLLTSDRLPAGRCIFYGMIADGTHTNPAALRIAHRAHPQGLVLVTDAIPALG
LGNGRHTLGQQEVEVDGLTAYVAGTKTLSGSIAPMDVCVRHFLQATGCSMESALEAASLH
PAQLLGLEKSKGTLDFGADADFVVLDDSLHVQATYISGELVWQADAARQ
GenBank ID Protein 21361513
UniProtKB/Swiss-Prot ID Q9Y303
UniProtKB/Swiss-Prot Entry Name NAGA_HUMAN
PDB IDs Not Available
GenBank Gene ID Not Available
GeneCard ID AMDHD2
GenAtlas ID AMDHD2
HGNC ID HGNC:24262
References
General References
  1. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed:14702039 ]
  2. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  3. Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE: The consensus coding sequences of human breast and colorectal cancers. Science. 2006 Oct 13;314(5797):268-74. Epub 2006 Sep 7. [PubMed:16959974 ]
  4. Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W: Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. Genome Res. 2000 May;10(5):703-13. [PubMed:10810093 ]