Q9Y303 (NAGA_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Putative N-acetylglucosamine-6-phosphate deacetylase
EC=3.5.1.25

Alternative name(s):
Amidohydrolase domain-containing protein 2
GlcNAc 6-P deacetylase

Gene names

Name:	AMDHD2
ORF Names:	CGI-14

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	409 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

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. Ref.6
Catalytic activity	N-acetyl-D-glucosamine 6-phosphate + H2O = D-glucosamine 6-phosphate + acetate. Ref.6
Cofactor	Binds 1 divalent metal cation per subunit By similarity.
Pathway	Amino-sugar metabolism; N-acetylneuraminate degradation. Ref.6
Sequence similarities	Belongs to the NagA family.
Sequence caution	The sequence AAD27723.1 differs from that shown. Reason: Frameshift at positions 5, 7, 11, 103, 113, 117, 192, 194, 195, 202 and 205.

Ontologies

Keywords
Biological process	Carbohydrate metabolism
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	Metal-binding
Molecular function	Hydrolase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	N-acetylglucosamine metabolic process Inferred from electronic annotation. Source: InterPro N-acetylneuraminate catabolic process Traceable author statement Ref.6. Source: UniProtKB carbohydrate metabolic process Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	N-acetylglucosamine-6-phosphate deacetylase activity Inferred from direct assay Ref.6. Source: UniProtKB metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9Y303-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9Y303-2)

The sequence of this isoform differs from the canonical sequence as follows:
     323-323: A → AGERPDPLGPRSQPACQVAHDPPRACPLCSQ

Isoform 3 (identifier: Q9Y303-3)

The sequence of this isoform differs from the canonical sequence as follows:
     323-323: A → AGERPDPLGPRSQPACQVAHDPPRACPLCSQ
     399-409: ELVWQADAARQ → PVLAGCGDPA...KNHLPGQGLA

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 409	409	Putative N-acetylglucosamine-6-phosphate deacetylase		PRO_0000315776
Regions
	Region	235 – 236	2	Substrate binding By similarity
	Region	328 – 330	3	Substrate binding By similarity
Sites
	Active site	294	1	Proton donor/acceptor By similarity
	Metal binding	143	1	Divalent metal cation By similarity
	Metal binding	211	1	Divalent metal cation; via tele nitrogen By similarity
	Metal binding	232	1	Divalent metal cation; via tele nitrogen By similarity
	Binding site	154	1	Substrate; via amide nitrogen By similarity
	Binding site	243	1	Substrate By similarity
	Binding site	272	1	Substrate; via tele nitrogen By similarity
Natural variations
	Alternative sequence	323	1	A → AGERPDPLGPRSQPACQVAH DPPRACPLCSQ in isoform 2 and isoform 3.		VSP_030698
	Alternative sequence	399 – 409	11	ELVWQADAARQ → PVLAGCGDPAWCWRAVWEAP VCPAHPISVILPSSVSPWPW HTPMWQTRAVRLPEQLRGGW ASGALLALRTATVGSDVRDW CSPTSGVIVLTFSPFEFWGG WLPSPLLTGAVLGTGGTRLA LPLFSSLCCKAQLRKCLQVQ RDRMVWAPPVGREQPGKNHL PGQGLA in isoform 3.		VSP_038782
	Natural variant	294	1	D → N in a colorectal cancer sample; somatic mutation. Ref.7		VAR_038301
Experimental info
	Sequence conflict	97	1	R → E in AAD27723. Ref.1
	Sequence conflict	135	1	A → Q in AAD27723. Ref.1
	Sequence conflict	154	1	A → T in AAD27723. Ref.1
	Sequence conflict	197	1	I → L in AAD27723. Ref.1
	Sequence conflict	227	1	Missing in AAD27723. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 15, 2008. Version 2. Checksum: E647E8F384BBC1D6	FASTA	409	43,748
	10 20 30 40 50 60 MRGEQGAAGA RVLQFTNCRI LRGGKLLRED LWVRGGRILD PEKLFFEERR VADERRDCGG 70 80 90 100 110 120 RILAPGFIDV QINGGFGVDF SQATEDVGSG VALVARRILS HGVTSFCPTL VTSPPEVYHK 130 140 150 160 170 180 VVPQIPVKSG GPHGAGVLGL HLEGPFISRE KRGAHPEAHL RSFEADAFQD LLATYGPLDN 190 200 210 220 230 240 VRIVTLAPEL GRSHEVIRAL TARGICVSLG HSVADLRAAE DAVWSGATFI THLFNAMLPF 250 260 270 280 290 300 HHRDPGIVGL LTSDRLPAGR CIFYGMIADG THTNPAALRI AHRAHPQGLV LVTDAIPALG 310 320 330 340 350 360 LGNGRHTLGQ QEVEVDGLTA YVAGTKTLSG SIAPMDVCVR HFLQATGCSM ESALEAASLH 370 380 390 400 PAQLLGLEKS KGTLDFGADA DFVVLDDSLH VQATYISGEL VWQADAARQ
	Isoform 2 [UniParc]. Checksum: 7F91C98F961F9902	FASTA	439	46,913
	10 20 30 40 50 60 MRGEQGAAGA RVLQFTNCRI LRGGKLLRED LWVRGGRILD PEKLFFEERR VADERRDCGG 70 80 90 100 110 120 RILAPGFIDV QINGGFGVDF SQATEDVGSG VALVARRILS HGVTSFCPTL VTSPPEVYHK 130 140 150 160 170 180 VVPQIPVKSG GPHGAGVLGL HLEGPFISRE KRGAHPEAHL RSFEADAFQD LLATYGPLDN 190 200 210 220 230 240 VRIVTLAPEL GRSHEVIRAL TARGICVSLG HSVADLRAAE DAVWSGATFI THLFNAMLPF 250 260 270 280 290 300 HHRDPGIVGL LTSDRLPAGR CIFYGMIADG THTNPAALRI AHRAHPQGLV LVTDAIPALG 310 320 330 340 350 360 LGNGRHTLGQ QEVEVDGLTA YVAGERPDPL GPRSQPACQV AHDPPRACPL CSQGTKTLSG 370 380 390 400 410 420 SIAPMDVCVR HFLQATGCSM ESALEAASLH PAQLLGLEKS KGTLDFGADA DFVVLDDSLH 430 VQATYISGEL VWQADAARQ
	Isoform 3 [UniParc]. Checksum: 41F69F93D6CE37D4	FASTA	594	63,595
	10 20 30 40 50 60 MRGEQGAAGA RVLQFTNCRI LRGGKLLRED LWVRGGRILD PEKLFFEERR VADERRDCGG 70 80 90 100 110 120 RILAPGFIDV QINGGFGVDF SQATEDVGSG VALVARRILS HGVTSFCPTL VTSPPEVYHK 130 140 150 160 170 180 VVPQIPVKSG GPHGAGVLGL HLEGPFISRE KRGAHPEAHL RSFEADAFQD LLATYGPLDN 190 200 210 220 230 240 VRIVTLAPEL GRSHEVIRAL TARGICVSLG HSVADLRAAE DAVWSGATFI THLFNAMLPF 250 260 270 280 290 300 HHRDPGIVGL LTSDRLPAGR CIFYGMIADG THTNPAALRI AHRAHPQGLV LVTDAIPALG 310 320 330 340 350 360 LGNGRHTLGQ QEVEVDGLTA YVAGERPDPL GPRSQPACQV AHDPPRACPL CSQGTKTLSG 370 380 390 400 410 420 SIAPMDVCVR HFLQATGCSM ESALEAASLH PAQLLGLEKS KGTLDFGADA DFVVLDDSLH 430 440 450 460 470 480 VQATYISGPV LAGCGDPAWC WRAVWEAPVC PAHPISVILP SSVSPWPWHT PMWQTRAVRL 490 500 510 520 530 540 PEQLRGGWAS GALLALRTAT VGSDVRDWCS PTSGVIVLTF SPFEFWGGWL PSPLLTGAVL 550 560 570 580 590 GTGGTRLALP LFSSLCCKAQ LRKCLQVQRD RMVWAPPVGR EQPGKNHLPG QGLA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics." Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C. Genome Res. 10:703-713(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." 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 T.-O., 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. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Tongue.
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Skin.
[5]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[6]	"Metabolism of vertebrate amino sugars with N-glycolyl groups: elucidating the intracellular fate of the non-human sialic acid N-glycolylneuraminic acid." Bergfeld A.K., Pearce O.M., Diaz S.L., Pham T., Varki A. J. Biol. Chem. 287:28865-28881(2012) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, CATALYTIC ACTIVITY, PATHWAY.
[7]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] ASN-294.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF132948 mRNA. Translation: AAD27723.1. Frameshift. AK296877 mRNA. Translation: BAG59439.1. CH471112 Genomic DNA. Translation: EAW85500.1. BC018734 mRNA. Translation: AAH18734.1.
IPI	IPI00103028. IPI00477702. IPI00925719.
RefSeq	NP_001139287.1. NM_001145815.1. NP_057028.2. NM_015944.3.
UniGene	Hs.740430.
3D structure databases
HSSP	HSSP built from PDB template 1UN7 based on UniProtKB O34450.
ProteinModelPortal	Q9Y303.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9Y303. 1 interaction.
STRING	9606.ENSP00000307481.
Protein family/group databases
MEROPS	M38.979.
PTM databases
PhosphoSite	Q9Y303.
Polymorphism databases
DMDM	166233266.
Proteomic databases
PaxDb	Q9Y303.
PRIDE	Q9Y303.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000293971; ENSP00000293971; ENSG00000162066. ENST00000302956; ENSP00000307481; ENSG00000162066. ENST00000413459; ENSP00000391596; ENSG00000162066.
GeneID	51005.
KEGG	hsa:51005.
UCSC	uc002cqp.3. human. uc002cqq.3. human. uc010uwc.2. human.
Organism-specific databases
CTD	51005.
GeneCards	GC16P002570.
HGNC	HGNC:24262. AMDHD2.
HPA	HPA041184. HPA041321.
neXtProt	NX_Q9Y303.
PharmGKB	PA143485298.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1820.
HOGENOM	HOG000275010.
HOVERGEN	HBG108170.
KO	K01443.
OMA	DLWVREG.
Enzyme and pathway databases
UniPathway	UPA00629.
Gene expression databases
ArrayExpress	Q9Y303.
Bgee	Q9Y303.
CleanEx	HS_AMDHD2.
Genevestigator	Q9Y303.
Family and domain databases
InterPro	IPR006680. Amidohydro_1. IPR003764. GlcNAc_6-P_deAcase. IPR011059. Metal-dep_hydrolase_composite. [Graphical view]
Pfam	PF01979. Amidohydro_1. 1 hit. [Graphical view]
PIRSF	PIRSF038994. NagA. 1 hit.
SUPFAM	SSF51338. Metalo_hydrolase. 1 hit.
TIGRFAMs	TIGR00221. nagA. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	AMDHD2. human.
GenomeRNAi	51005.
NextBio	53474.

Entry information

Entry name

NAGA_HUMAN

Accession

Primary (citable) accession number: Q9Y303
Secondary accession number(s): B4DL77, Q8WV54

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 15, 2008
Last sequence update:	January 15, 2008
Last modified:	May 1, 2013
This is version 96 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.