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Protein

N-acetylglucosamine-6-phosphate deacetylase

Gene

AMDHD2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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: N-acetylneuraminate degradation

This protein is involved in the pathway N-acetylneuraminate degradation, which is part of Amino-sugar metabolism.1 Publication
View all proteins of this organism that are known to be involved in the pathway N-acetylneuraminate degradation and in Amino-sugar metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi143Divalent metal cationBy similarity1
Metal bindingi211Divalent metal cation; via tele nitrogenBy similarity1
Metal bindingi232Divalent metal cation; via tele nitrogenBy similarity1
Binding sitei243SubstrateBy similarity1
Active sitei294Proton donor/acceptorBy similarity1

GO - Molecular functioni

  • metal ion binding Source: UniProtKB-KW
  • N-acetylglucosamine-6-phosphate deacetylase activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionHydrolase
Biological processCarbohydrate metabolism
LigandMetal-binding

Enzyme and pathway databases

ReactomeiR-HSA-446210 Synthesis of UDP-N-acetyl-glucosamine
UniPathwayiUPA00629

Protein family/group databases

MEROPSiM38.979

Names & Taxonomyi

Protein namesi
Recommended name:
N-acetylglucosamine-6-phosphate deacetylase1 Publication (EC:3.5.1.251 Publication)
Short name:
GlcNAc 6-P deacetylaseCurated
Alternative name(s):
Amidohydrolase domain-containing protein 2Curated
Gene namesi
Name:AMDHD2
ORF Names:CGI-14
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000162066.14
HGNCiHGNC:24262 AMDHD2
neXtProtiNX_Q9Y303

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000162066
PharmGKBiPA143485298

Chemistry databases

ChEMBLiCHEMBL3217376

Polymorphism and mutation databases

BioMutaiAMDHD2
DMDMi166233266

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003157761 – 409N-acetylglucosamine-6-phosphate deacetylaseAdd BLAST409

Proteomic databases

EPDiQ9Y303
PaxDbiQ9Y303
PeptideAtlasiQ9Y303
PRIDEiQ9Y303
ProteomicsDBi85950
85951 [Q9Y303-2]
85952 [Q9Y303-3]

PTM databases

iPTMnetiQ9Y303
PhosphoSitePlusiQ9Y303

Expressioni

Gene expression databases

BgeeiENSG00000162066
CleanExiHS_AMDHD2
ExpressionAtlasiQ9Y303 baseline and differential
GenevisibleiQ9Y303 HS

Organism-specific databases

HPAiHPA041184
HPA041321

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi119213, 4 interactors
IntActiQ9Y303, 3 interactors
STRINGi9606.ENSP00000455561

Structurei

3D structure databases

ProteinModelPortaliQ9Y303
SMRiQ9Y303
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni154 – 155Substrate bindingBy similarity2
Regioni235 – 236Substrate bindingBy similarity2
Regioni269 – 272Substrate bindingBy similarity4
Regioni328 – 330Substrate bindingBy similarity3

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG3892 Eukaryota
COG1820 LUCA
GeneTreeiENSGT00390000012605
HOGENOMiHOG000275010
HOVERGENiHBG108170
InParanoidiQ9Y303
KOiK01443
OMAiHAFNAMP
OrthoDBiEOG091G08JG
PhylomeDBiQ9Y303
TreeFamiTF315036

Family and domain databases

CDDicd00854 NagA, 1 hit
Gene3Di2.30.40.10, 2 hits
InterProiView protein in InterPro
IPR006680 Amidohydro-rel
IPR003764 GlcNAc_6-P_deAcase
IPR011059 Metal-dep_hydrolase_composite
IPR032466 Metal_Hydrolase
PfamiView protein in Pfam
PF01979 Amidohydro_1, 1 hit
PIRSFiPIRSF038994 NagA, 1 hit
SUPFAMiSSF51338 SSF51338, 2 hits
SSF51556 SSF51556, 1 hit
TIGRFAMsiTIGR00221 nagA, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

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 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)DescriptionActionsGraphical viewLength
Sequence conflicti97R → E in AAD27723 (PubMed:10810093).Curated1
Sequence conflicti135A → Q in AAD27723 (PubMed:10810093).Curated1
Sequence conflicti154A → T in AAD27723 (PubMed:10810093).Curated1
Sequence conflicti197I → L in AAD27723 (PubMed:10810093).Curated1
Sequence conflicti227Missing in AAD27723 (PubMed:10810093).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_038301294D → N in a colorectal cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_030698323A → AGERPDPLGPRSQPACQVAH DPPRACPLCSQ in isoform 2 and isoform 3. 2 Publications1
Alternative sequenceiVSP_038782399 – 409ELVWQADAARQ → PVLAGCGDPAWCWRAVWEAP VCPAHPISVILPSSVSPWPW HTPMWQTRAVRLPEQLRGGW ASGALLALRTATVGSDVRDW CSPTSGVIVLTFSPFEFWGG WLPSPLLTGAVLGTGGTRLA LPLFSSLCCKAQLRKCLQVQ RDRMVWAPPVGREQPGKNHL PGQGLA in isoform 3. 1 PublicationAdd BLAST11

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]
CCDS81936.1 [Q9Y303-1]
RefSeqiNP_001139287.1, NM_001145815.1 [Q9Y303-3]
NP_001317378.1, NM_001330449.1 [Q9Y303-1]
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.4 human [Q9Y303-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiNAGA_HUMAN
AccessioniPrimary (citable) accession number: Q9Y303
Secondary accession number(s): B4DL77, Q8WV54
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: June 20, 2018
This is version 138 of the entry and version 2 of the sequence. See 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

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