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Q9Y303 (NAGA_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 105. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length409 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 409409Putative N-acetylglucosamine-6-phosphate deacetylase
PRO_0000315776

Regions

Region235 – 2362Substrate binding By similarity
Region328 – 3303Substrate binding By similarity

Sites

Active site2941Proton donor/acceptor By similarity
Metal binding1431Divalent metal cation By similarity
Metal binding2111Divalent metal cation; via tele nitrogen By similarity
Metal binding2321Divalent metal cation; via tele nitrogen By similarity
Binding site1541Substrate; via amide nitrogen By similarity
Binding site2431Substrate By similarity
Binding site2721Substrate; via tele nitrogen By similarity

Natural variations

Alternative sequence3231A → AGERPDPLGPRSQPACQVAH DPPRACPLCSQ in isoform 2 and isoform 3.
VSP_030698
Alternative sequence399 – 40911ELVWQADAARQ → PVLAGCGDPAWCWRAVWEAP VCPAHPISVILPSSVSPWPW HTPMWQTRAVRLPEQLRGGW ASGALLALRTATVGSDVRDW CSPTSGVIVLTFSPFEFWGG WLPSPLLTGAVLGTGGTRLA LPLFSSLCCKAQLRKCLQVQ RDRMVWAPPVGREQPGKNHL PGQGLA in isoform 3.
VSP_038782
Natural variant2941D → N in a colorectal cancer sample; somatic mutation. Ref.7
VAR_038301

Experimental info

Sequence conflict971R → E in AAD27723. Ref.1
Sequence conflict1351A → Q in AAD27723. Ref.1
Sequence conflict1541A → T in AAD27723. Ref.1
Sequence conflict1971I → L in AAD27723. Ref.1
Sequence conflict2271Missing in AAD27723. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 15, 2008. Version 2.
Checksum: E647E8F384BBC1D6

FASTA40943,748
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 7F91C98F961F9902
Show »

FASTA43946,913
Isoform 3 [UniParc].

Checksum: 41F69F93D6CE37D4
Show »

FASTA59463,595

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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.
RefSeqNP_001139287.1. NM_001145815.1.
NP_057028.2. NM_015944.3.
UniGeneHs.740430.

3D structure databases

ProteinModelPortalQ9Y303.
SMRQ9Y303. Positions 15-403.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119213. 1 interaction.
IntActQ9Y303. 1 interaction.
STRING9606.ENSP00000307481.

Protein family/group databases

MEROPSM38.979.

PTM databases

PhosphoSiteQ9Y303.

Polymorphism databases

DMDM166233266.

Proteomic databases

PaxDbQ9Y303.
PRIDEQ9Y303.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000293971; ENSP00000293971; ENSG00000162066. [Q9Y303-1]
ENST00000302956; ENSP00000307481; ENSG00000162066. [Q9Y303-2]
ENST00000413459; ENSP00000391596; ENSG00000162066. [Q9Y303-3]
GeneID51005.
KEGGhsa:51005.
UCSCuc002cqp.3. human. [Q9Y303-2]
uc002cqq.3. human. [Q9Y303-1]
uc010uwc.2. human. [Q9Y303-3]

Organism-specific databases

CTD51005.
GeneCardsGC16P002570.
HGNCHGNC:24262. AMDHD2.
HPAHPA041184.
HPA041321.
neXtProtNX_Q9Y303.
PharmGKBPA143485298.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1820.
HOGENOMHOG000275010.
HOVERGENHBG108170.
KOK01443.
OMADLWVREG.
OrthoDBEOG7BW0JH.
PhylomeDBQ9Y303.
TreeFamTF315036.

Enzyme and pathway databases

UniPathwayUPA00629.

Gene expression databases

ArrayExpressQ9Y303.
BgeeQ9Y303.
CleanExHS_AMDHD2.
GenevestigatorQ9Y303.

Family and domain databases

Gene3D2.30.40.10. 2 hits.
InterProIPR003764. GlcNAc_6-P_deAcase.
IPR011059. Metal-dep_hydrolase_composite.
[Graphical view]
PIRSFPIRSF038994. NagA. 1 hit.
SUPFAMSSF51338. SSF51338. 2 hits.
TIGRFAMsTIGR00221. nagA. 1 hit.
ProtoNetSearch...

Other

ChiTaRSAMDHD2. human.
GenomeRNAi51005.
NextBio53474.
PROQ9Y303.

Entry information

Entry nameNAGA_HUMAN
AccessionPrimary (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: April 16, 2014
This is version 105 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM