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Q9Y303

- NAGA_HUMAN

UniProt

Q9Y303 - NAGA_HUMAN

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Protein
Putative N-acetylglucosamine-6-phosphate deacetylase
Gene
AMDHD2, CGI-14
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.1 Publication

Catalytic activityi

N-acetyl-D-glucosamine 6-phosphate + H2O = D-glucosamine 6-phosphate + acetate.1 Publication

Cofactori

Binds 1 divalent metal cation per subunit By similarity.

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi143 – 1431Divalent metal cation By similarity
Binding sitei154 – 1541Substrate; via amide nitrogen By similarity
Metal bindingi211 – 2111Divalent metal cation; via tele nitrogen By similarity
Metal bindingi232 – 2321Divalent metal cation; via tele nitrogen By similarity
Binding sitei243 – 2431Substrate By similarity
Binding sitei272 – 2721Substrate; via tele nitrogen By similarity
Active sitei294 – 2941Proton donor/acceptor By similarity

GO - Molecular functioni

  1. N-acetylglucosamine-6-phosphate deacetylase activity Source: UniProtKB
  2. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. N-acetylglucosamine metabolic process Source: InterPro
  2. N-acetylneuraminate catabolic process Source: UniProtKB
  3. carbohydrate metabolic process Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Carbohydrate metabolism

Keywords - Ligandi

Metal-binding

Enzyme and pathway databases

UniPathwayiUPA00629.

Protein family/group databases

MEROPSiM38.979.

Names & Taxonomyi

Protein namesi
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 namesi
Name:AMDHD2
ORF Names:CGI-14
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:24262. AMDHD2.

Subcellular locationi

GO - Cellular componenti

  1. nucleus Source: UniProt
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA143485298.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 409409Putative N-acetylglucosamine-6-phosphate deacetylase
PRO_0000315776Add
BLAST

Proteomic databases

MaxQBiQ9Y303.
PaxDbiQ9Y303.
PRIDEiQ9Y303.

PTM databases

PhosphoSiteiQ9Y303.

Expressioni

Gene expression databases

ArrayExpressiQ9Y303.
BgeeiQ9Y303.
CleanExiHS_AMDHD2.
GenevestigatoriQ9Y303.

Organism-specific databases

HPAiHPA041184.
HPA041321.

Interactioni

Protein-protein interaction databases

BioGridi119213. 1 interaction.
IntActiQ9Y303. 1 interaction.
STRINGi9606.ENSP00000307481.

Structurei

3D structure databases

ProteinModelPortaliQ9Y303.
SMRiQ9Y303. Positions 15-403.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni235 – 2362Substrate binding By similarity
Regioni328 – 3303Substrate binding By similarity

Sequence similaritiesi

Belongs to the NagA family.

Phylogenomic databases

eggNOGiCOG1820.
HOGENOMiHOG000275010.
HOVERGENiHBG108170.
KOiK01443.
OMAiDLWVREG.
OrthoDBiEOG7BW0JH.
PhylomeDBiQ9Y303.
TreeFamiTF315036.

Family and domain databases

Gene3Di2.30.40.10. 2 hits.
InterProiIPR003764. GlcNAc_6-P_deAcase.
IPR011059. Metal-dep_hydrolase_composite.
[Graphical view]
PIRSFiPIRSF038994. NagA. 1 hit.
SUPFAMiSSF51338. SSF51338. 2 hits.
TIGRFAMsiTIGR00221. nagA. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9Y303-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MRGEQGAAGA RVLQFTNCRI LRGGKLLRED LWVRGGRILD PEKLFFEERR    50
VADERRDCGG RILAPGFIDV QINGGFGVDF SQATEDVGSG VALVARRILS 100
HGVTSFCPTL VTSPPEVYHK VVPQIPVKSG GPHGAGVLGL HLEGPFISRE 150
KRGAHPEAHL RSFEADAFQD LLATYGPLDN VRIVTLAPEL GRSHEVIRAL 200
TARGICVSLG HSVADLRAAE DAVWSGATFI THLFNAMLPF HHRDPGIVGL 250
LTSDRLPAGR CIFYGMIADG THTNPAALRI AHRAHPQGLV LVTDAIPALG 300
LGNGRHTLGQ QEVEVDGLTA YVAGTKTLSG SIAPMDVCVR HFLQATGCSM 350
ESALEAASLH PAQLLGLEKS KGTLDFGADA DFVVLDDSLH VQATYISGEL 400
VWQADAARQ 409
Length:409
Mass (Da):43,748
Last modified:January 15, 2008 - v2
Checksum:iE647E8F384BBC1D6
GO
Isoform 2 (identifier: Q9Y303-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:439
Mass (Da):46,913
Checksum:i7F91C98F961F9902
GO
Isoform 3 (identifier: Q9Y303-3) [UniParc]FASTAAdd to Basket

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

Show »
Length:594
Mass (Da):63,595
Checksum:i41F69F93D6CE37D4
GO

Sequence cautioni

The sequence AAD27723.1 differs from that shown. Reason: Frameshift at positions 5, 7, 11, 103, 113, 117, 192, 194, 195, 202 and 205.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti294 – 2941D → N in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_038301

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei323 – 3231A → AGERPDPLGPRSQPACQVAH DPPRACPLCSQ in isoform 2 and isoform 3.
VSP_030698
Alternative sequencei399 – 40911ELVWQADAARQ → PVLAGCGDPAWCWRAVWEAP VCPAHPISVILPSSVSPWPW HTPMWQTRAVRLPEQLRGGW ASGALLALRTATVGSDVRDW CSPTSGVIVLTFSPFEFWGG WLPSPLLTGAVLGTGGTRLA LPLFSSLCCKAQLRKCLQVQ RDRMVWAPPVGREQPGKNHL PGQGLA in isoform 3.
VSP_038782Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti97 – 971R → E in AAD27723. 1 Publication
Sequence conflicti135 – 1351A → Q in AAD27723. 1 Publication
Sequence conflicti154 – 1541A → T in AAD27723. 1 Publication
Sequence conflicti197 – 1971I → L in AAD27723. 1 Publication
Sequence conflicti227 – 2271Missing in AAD27723. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF132948 mRNA. Translation: AAD27723.1. Frameshift.
AK296877 mRNA. Translation: BAG59439.1.
CH471112 Genomic DNA. Translation: EAW85500.1.
BC018734 mRNA. Translation: AAH18734.1.
CCDSiCCDS10471.1. [Q9Y303-2]
CCDS53984.1. [Q9Y303-3]
RefSeqiNP_001139287.1. NM_001145815.1. [Q9Y303-3]
NP_057028.2. NM_015944.3. [Q9Y303-2]
UniGeneiHs.740430.

Genome annotation databases

EnsembliENST00000293971; ENSP00000293971; ENSG00000162066. [Q9Y303-1]
ENST00000302956; ENSP00000307481; ENSG00000162066. [Q9Y303-2]
ENST00000413459; ENSP00000391596; ENSG00000162066. [Q9Y303-3]
GeneIDi51005.
KEGGihsa:51005.
UCSCiuc002cqp.3. human. [Q9Y303-2]
uc002cqq.3. human. [Q9Y303-1]
uc010uwc.2. human. [Q9Y303-3]

Polymorphism databases

DMDMi166233266.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF132948 mRNA. Translation: AAD27723.1 . Frameshift.
AK296877 mRNA. Translation: BAG59439.1 .
CH471112 Genomic DNA. Translation: EAW85500.1 .
BC018734 mRNA. Translation: AAH18734.1 .
CCDSi CCDS10471.1. [Q9Y303-2 ]
CCDS53984.1. [Q9Y303-3 ]
RefSeqi NP_001139287.1. NM_001145815.1. [Q9Y303-3 ]
NP_057028.2. NM_015944.3. [Q9Y303-2 ]
UniGenei Hs.740430.

3D structure databases

ProteinModelPortali Q9Y303.
SMRi Q9Y303. Positions 15-403.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119213. 1 interaction.
IntActi Q9Y303. 1 interaction.
STRINGi 9606.ENSP00000307481.

Protein family/group databases

MEROPSi M38.979.

PTM databases

PhosphoSitei Q9Y303.

Polymorphism databases

DMDMi 166233266.

Proteomic databases

MaxQBi Q9Y303.
PaxDbi Q9Y303.
PRIDEi Q9Y303.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000293971 ; ENSP00000293971 ; ENSG00000162066 . [Q9Y303-1 ]
ENST00000302956 ; ENSP00000307481 ; ENSG00000162066 . [Q9Y303-2 ]
ENST00000413459 ; ENSP00000391596 ; ENSG00000162066 . [Q9Y303-3 ]
GeneIDi 51005.
KEGGi hsa:51005.
UCSCi uc002cqp.3. human. [Q9Y303-2 ]
uc002cqq.3. human. [Q9Y303-1 ]
uc010uwc.2. human. [Q9Y303-3 ]

Organism-specific databases

CTDi 51005.
GeneCardsi GC16P002570.
HGNCi HGNC:24262. AMDHD2.
HPAi HPA041184.
HPA041321.
neXtProti NX_Q9Y303.
PharmGKBi PA143485298.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1820.
HOGENOMi HOG000275010.
HOVERGENi HBG108170.
KOi K01443.
OMAi DLWVREG.
OrthoDBi EOG7BW0JH.
PhylomeDBi Q9Y303.
TreeFami TF315036.

Enzyme and pathway databases

UniPathwayi UPA00629 .

Miscellaneous databases

ChiTaRSi AMDHD2. human.
GenomeRNAii 51005.
NextBioi 53474.
PROi Q9Y303.

Gene expression databases

ArrayExpressi Q9Y303.
Bgeei Q9Y303.
CleanExi HS_AMDHD2.
Genevestigatori Q9Y303.

Family and domain databases

Gene3Di 2.30.40.10. 2 hits.
InterProi IPR003764. GlcNAc_6-P_deAcase.
IPR011059. Metal-dep_hydrolase_composite.
[Graphical view ]
PIRSFi PIRSF038994. NagA. 1 hit.
SUPFAMi SSF51338. SSF51338. 2 hits.
TIGRFAMsi TIGR00221. nagA. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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. 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. Cited for: VARIANT [LARGE SCALE ANALYSIS] ASN-294.

Entry informationi

Entry nameiNAGA_HUMAN
AccessioniPrimary (citable) accession number: Q9Y303
Secondary accession number(s): B4DL77, Q8WV54
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: July 9, 2014
This is version 108 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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