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Aliases & Descriptions for NAGA
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| D22S674 1, 2 | | EC 3.2.1.49 3 | | GALB 2 | | alpha-N-acetylgalactosaminidase 2 |
| | | Descriptions |
|---|
| Acetylgalactosaminidase, alpha-N- (alpha-galactosidase B) 2 | | Alpha-galactosidase B 3 | | N-acetylgalactosaminidase, alpha- 2 |
|
| | Search outside databases for aliases for NAGA genePrevious GC identifers: GC22M039068 GC22M040697 GC22M040778 |
Summaries for NAGA(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for NAGA: NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of Schindler disease types I and II (type II also known as Kanzaki disease). [provided by RefSeq] Gene Wiki entry for NAGA |
Genomic Location for NAGA
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the NAGA gene 
Entrez Gene cytogenetic band: 22q13-qter|22q11 Ensembl cytogenetic band: 22q13.2 HGNC cytogenetic band: 22q13-qterNAGA Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 22 GeneLoc Exon Structure GeneLoc location for GC22M040784:
(about GC identifiers)
Start:
|
40,784,331 bp from pter |
End:
|
40,796,792 bp from pter |
Size:
|
12,462 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000022.9 NT_011520.11
| Proteins for NAGA
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: NAGAB_HUMAN, P17050 (See
protein sequence)Recommended Name: Alpha-N-acetylgalactosaminidase precursor Size: 411 amino acids; 46565 Da
Subcellular location: Lysosome
Miscellaneous: Alpha-galactosidase B was first found to be an isoenzyme of alpha-galactosidases, but apparently it differs from alpha-galactosidase A in substrate specificity and is alpha-N-acetylgalactosaminidase
Sequence caution: Sequence=AAA59902.1; Type=Frameshift; Positions=320;REFSEQ proteins: NP_000253.1
ENSEMBL proteins: ENSP00000384603 ENSP00000385283 ENSP00000355349 ENSP00000379680
Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: NAGA 
1 Gene Ontology (GO) cellular component term (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005764 | lysosome |
IEA | -- | About this table
Antibodies for NAGA: Assays for NAGA: | Protein
Domains/ Families for NAGA(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P17050
ProtoNet protein and cluster: P17050 1 Blocks protein family: IPB002241 Glycosyl hydrolase family 27 signature
UniProtKB/Swiss-Prot: NAGAB_HUMAN, P17050Similarity: Belongs to the glycosyl hydrolase 27 family | Gene Function for NAGA
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000262
Applied Biosystems Silencer® siRNAs for NAGA
Sigma-Aldrich siRNA and siRNA Panels for NAGA  Sigma-Aldrich shRNA for NAGA  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000262                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000262                                  untagged cDNA clone in CMV expression vector: NM_000262 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000262
UniProtKB/Swiss-Prot: NAGAB_HUMAN, P17050Catalytic activity: Hydrolysis of terminal non-reducing N-acetyl-D-galactosamine residues in N-acetyl-alpha-D-galactosaminidesEnzyme Number (IUBMB): EC 3.2.1.49 Genatlas biochemistry entry for NAGA:acetyl-galactosaminidase,alpha-N-,lyposomal,catalyzing the degradation of alpha-N-acetylgalactosaminyl-containing glycoconjugates3 Gene Ontology (GO) molecular function terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004553 | hydrolase activity, hydrolyzing O-glycosyl compounds |
IEA | -- | | GO:0008456 | alpha-N-acetylgalactosaminidase activity |
TAS | 2174888 | | GO:0043169 | cation binding |
IEA | -- | About this table | Pathways & Interactions for NAGA
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 5/7 Sigma-Aldrich "Your Favorite Gene" Pathways for NAGA (Your Favorite Gene powered by Ingenuity) (see all 7
) 
5/8 Interacting proteins for NAGA (ENSP000003553493) via UniProtKB, MINT, and/or STRING (see all 8
)About this table
2 Gene Ontology (GO) biological process terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005975 | carbohydrate metabolic process |
IEA | -- | | GO:0008152 | metabolic process |
IEA | -- | About this table
|
Drugs & Compounds for NAGA(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for NAGA 6 Novoseek chemical compound relationships for NAGA gene
About this table
|
Transcripts for NAGA(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000262
Sigma-Aldrich siRNA and siRNA Panels for NAGA  Sigma-Aldrich shRNA for NAGA  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000262 REFSEQ mRNAs for NAGA gene: NM_000262.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000262               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000262                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000262                                  untagged cDNA clone in CMV expression vector: NM_000262  Additional cDNA sequence: BC000095.2 CR456527.1 CR591632.1 CR592922.1 CR595327.1 CR595848.1 CR596145.1 CR599558.1 CR601288.1 CR601521.1 CR610763.1 CR612931.1 CR618231.1 CR620776.1 CR621618.1 CR622743.1 CR623556.1 M29276.1 M38083.1 M62783.1 16 DOTS entries: DT.100823590 DT.455140 DT.100823595 DT.100823594 DT.95107270 DT.100698611 DT.95107235 DT.100823593 DT.100643645 DT.100696225 DT.100696639 DT.100712149 DT.100719562 DT.100823598 DT.100777208 DT.95107273 24/336 AceView cDNA sequences (see all 336
):AA303896 AL045023 CR599558 BI769830 CR595327 BC000095 BX367373 BU170376 BX374419 CR456527 BM714265 CR596145 M38083 F03932 BX326675 AW296535 BQ645779 CB529326 CR591632 CA748937 CR623556 BM676689 CR620776 CR622743
highest scoring ESTs for NAGA:AW382779 BC000095 BE279616 BE386881 BE409953 BE784116 BF968581 BG482168 BG829868 BI193237 Unigene Cluster for NAGA: N-acetylgalactosaminidase, alpha- Hs.75372 [show with all ESTs]Unigene Representative Sequence: NM_000262
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for NAGA
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for NAGA
4 Ensembl transcripts including schematic representations: ENST00000402937
ENST00000403363
ENST00000361920
ENST00000396398
|
Expression for NAGA
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| NAGA expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for NAGA
1 / 2 / 3 6 probe-sets matching NAGA gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TGATTGGCTT
SOURCE GeneReport for Unigene cluster: Hs.75372
Expression variation in blood from EXPOLDB for NAGA |
Orthologs for NAGA
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for NAGA gene from 5/13 species (see all 13
)
About this table Species with no ortholog for NAGA
ENSEMBL Gene Tree for NAGA | Paralogs for NAGA(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for NAGA gene
- GLA2
|
SNPs/Variants for NAGA(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for NAGA (up to first 250kb)
|
Disorders & Mutations for NAGA
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 104170 disorders: 609241 609242 609241 UniProtKB/Swiss-Prot: NAGAB_HUMAN, P17050
Defects in NAGA are the cause of Schindler disease [MIM:609241]. Schindler disease is a form of NAGA deficiency characterized by early onset neuroaxonal dystrophy and neurological signs (convulsion during fever, epilepsy, psychomotor retardation and hypotonia). NAGA deficiency is typically classified in three main phenotypes: NAGA deficiency type I (Schindler disease or Schindler disease type I) with severe manifestations; NAGA deficiency type II (Kanzazi disease or Schindler disease type II) which is mild; NAGA deficiency type III (Schindler disease type III) characterized by mild-to-moderate neurologic manifestations. NAGA deficiency results in the increased urinary excretion of glycopeptides and oligosaccharides containing alpha-N-acetylgalactosaminyl moieties. Inheritance is autosomal recessive Defects in NAGA are the cause of Kanzaki disease [MIM:609242]; also known as NAGA deficiency type II or Schindler disease type II. Kanzaki disease is an autosomal recessive disorder characterized by late onset, angiokeratoma corporis diffusum and mild intellectual impairment10/16 Novoseek disease relationships for NAGA gene (see all 16
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| neuroaxonal dystrophies |
91.96 |
5 |
8466216 (1), 2122121 (1), 11313741 (1), 1907616 (1) (see all 5) |
| neuroaxonal dystrophy, infantile |
89.91 |
4 |
1907616 (2), 2122121 (1) |
| angiokeratoma |
82.50 |
3 |
7707696 (1), 1907616 (1) |
| fucosidosis |
82.19 |
4 |
10571005 (2), 2208741 (1), 2122119 (1) |
| fabry disease |
80.34 |
7 |
11251574 (2), 2208741 (2), 2160280 (1), 8040340 (1) (see all 5) |
| lysosomal storage diseases |
69.45 |
3 |
11251574 (1), 7707696 (1), 2208741 (1) |
| sialidosis |
67.39 |
2 |
2208741 (1), 2122119 (1) |
| enzyme deficiency |
57.99 |
1 |
8466216 (1) |
| deficiency diseases |
57.20 |
1 |
12005440 (1) |
| nephropathy iga |
50.67 |
1 |
18925530 (1) |
About this table
Genatlas disease: NAGA angiokeratoma corporis diffusum with glycopeptiduria,Schindler,Seitelberger disease,neuroaxonal dystrophy,infantile and adult types Human Gene Mutation Database: NAGA
|
Medical News for NAGA(Possibly Related Articles in
Doctor's Guide)
About This Section
| |
Publications for NAGA (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/113 PubMed articles for NAGA gene (see all 113
):- Molecular cloning of two species of cDNAs for human alpha-N- acetylgalactosaminidase and expression in mammalian cells. (PubMed id 2372288)1, 3, 4 Yamauchi T.... Tsuji S. (1990)
- A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Meniere's syndrome and without mental retardation. (PubMed id 11251574)1, 3, 4 Kodama K.... Kanzaki T. (2001)
- Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype. (PubMed id 8782044)1, 3, 4 Keulemans J.L.M.... van Diggelen O.P. (1996)
- The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria. (PubMed id 8040340)1, 3, 4 Wang A.M.... Desnick R.J. (1994)
- Structural organization and complete sequence of the human alpha-N- acetylgalactosaminidase gene: homology with the alpha-galactosidase A gene provides evidence for evolution from a common ancestral gene. (PubMed id 1646157)1, 3, 4 Wang A.M. and Desnick R.J. (1991)
- Human alpha-N-acetylgalactosaminidase-molecular cloning, nucleotide sequence, and expression of a full-length cDNA. Homology with human alpha-galactosidase A suggests evolution from a common ancestral gene. (PubMed id 2174888)1, 3, 4 Wang A.M.... Desnick R.J. (1990)
- A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)3, 4 Collins J.E.... Dunham I. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- The DNA sequence of human chromosome 22. (PubMed id 10591208)3, 4 Dunham I....O'Brien K.P. (1999)
- Photolabeling of the alpha-neuraminidase/beta-galactosidase complex from human placenta with a photoreactive neuraminidase inhibitor. (PubMed id 2256909)3, 4 Warner T.G.... Potier M. (1990)
|
Search for NAGA
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing NAGA
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing NAGA
(According to HUGE)
About This Section
| -- |
Specialized Databases showing NAGA(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=NAGA |
|
| | | About This Section
| --
| Services for NAGA(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for NAGA:

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