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Q9Y303

- NAGA_HUMAN

UniProt

Q9Y303 - NAGA_HUMAN

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Protein

Putative N-acetylglucosamine-6-phosphate deacetylase

Gene

AMDHD2

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

a divalent metal cationBy similarityNote: Binds 1 divalent metal cation per subunit.By similarity

Pathwayi

Sites

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

GO - Molecular functioni

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

GO - Biological processi

  1. carbohydrate metabolic process Source: UniProtKB-KW
  2. N-acetylglucosamine metabolic process Source: InterPro
  3. N-acetylneuraminate catabolic process Source: UniProtKB
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 deacetylasePRO_0000315776Add
BLAST

Proteomic databases

MaxQBiQ9Y303.
PaxDbiQ9Y303.
PRIDEiQ9Y303.

PTM databases

PhosphoSiteiQ9Y303.

Expressioni

Gene expression databases

BgeeiQ9Y303.
CleanExiHS_AMDHD2.
ExpressionAtlasiQ9Y303. baseline and differential.
GenevestigatoriQ9Y303.

Organism-specific databases

HPAiHPA041184.
HPA041321.

Interactioni

Protein-protein interaction databases

BioGridi119213. 2 interactions.
IntActiQ9Y303. 1 interaction.
STRINGi9606.ENSP00000307481.

Structurei

3D structure databases

ProteinModelPortaliQ9Y303.
SMRiQ9Y303. Positions 15-403.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

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

Sequence similaritiesi

Belongs to the NagA family.Curated

Phylogenomic databases

eggNOGiCOG1820.
GeneTreeiENSGT00390000012605.
HOGENOMiHOG000275010.
HOVERGENiHBG108170.
InParanoidiQ9Y303.
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

        10         20         30         40         50
MRGEQGAAGA RVLQFTNCRI LRGGKLLRED LWVRGGRILD PEKLFFEERR
60 70 80 90 100
VADERRDCGG RILAPGFIDV QINGGFGVDF SQATEDVGSG VALVARRILS
110 120 130 140 150
HGVTSFCPTL VTSPPEVYHK VVPQIPVKSG GPHGAGVLGL HLEGPFISRE
160 170 180 190 200
KRGAHPEAHL RSFEADAFQD LLATYGPLDN VRIVTLAPEL GRSHEVIRAL
210 220 230 240 250
TARGICVSLG HSVADLRAAE DAVWSGATFI THLFNAMLPF HHRDPGIVGL
260 270 280 290 300
LTSDRLPAGR CIFYGMIADG THTNPAALRI AHRAHPQGLV LVTDAIPALG
310 320 330 340 350
LGNGRHTLGQ QEVEVDGLTA YVAGTKTLSG SIAPMDVCVR HFLQATGCSM
360 370 380 390 400
ESALEAASLH PAQLLGLEKS KGTLDFGADA DFVVLDDSLH VQATYISGEL

VWQADAARQ
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. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti97 – 971R → E in AAD27723. (PubMed:10810093)Curated
Sequence conflicti135 – 1351A → Q in AAD27723. (PubMed:10810093)Curated
Sequence conflicti154 – 1541A → T in AAD27723. (PubMed:10810093)Curated
Sequence conflicti197 – 1971I → L in AAD27723. (PubMed:10810093)Curated
Sequence conflicti227 – 2271Missing in AAD27723. (PubMed:10810093)Curated

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. 2 PublicationsVSP_030698
Alternative sequencei399 – 40911ELVWQADAARQ → PVLAGCGDPAWCWRAVWEAP VCPAHPISVILPSSVSPWPW HTPMWQTRAVRLPEQLRGGW ASGALLALRTATVGSDVRDW CSPTSGVIVLTFSPFEFWGG WLPSPLLTGAVLGTGGTRLA LPLFSSLCCKAQLRKCLQVQ RDRMVWAPPVGREQPGKNHL PGQGLA in isoform 3. 1 PublicationVSP_038782Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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. 2 interactions.
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.
GeneTreei ENSGT00390000012605.
HOGENOMi HOG000275010.
HOVERGENi HBG108170.
InParanoidi Q9Y303.
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

Bgeei Q9Y303.
CleanExi HS_AMDHD2.
ExpressionAtlasi Q9Y303. baseline and differential.
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: November 26, 2014
This is version 111 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