H-InvDB x AHG DB
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H-InvDB_9.0 released on May 27, 2015.
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H-Invitational ID: HIT000093427 Accession number: BC034424 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Similar to Beta-hexosaminidase subunit alpha; EC=3.2.1.52; Beta-N-acetylhexosaminidase subunit alpha; Hexosaminidase subunit A; N-acetyl-beta-glucosaminidase subunit alpha; Precursor;
 
 

Transcript original information
Accession number BC034424.1
CAGE tag ID NA
EST ID NA
Clone Number IMAGE:4823589
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ;
Sequence data provider NA
Annotation project NA
Length of cDNA 3163[bp] (No. of exon:3)[A:871 T:744 G:733 C:815]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type Testis
Develpmental stage NA
Mini-G
Sequence quality information
CDS feature Complete CDS
Kozak sequence NA
PolyA Site: 3148(+) Signal: 3127-3131(+)
Vector/adapter sequence NA
Frame shift NA
Remaining intron NA
Splice site acceptor (NAGNAG) NA
Transcript quality feature NMD predicted; 
Notes NA

Gene structure information  G-integra H-DBAS cDNA-genome alignment
H-Inv cluster ID HIX0038336
Genomic location  G-integra Help Chromosome 15
Location 15q23
Position 72571208- 72644134
Strand +
Possible duplicated location(s) NA
Gene structure 3 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:3073
KEGG GENES KEGG GENES(3073)
GeneCard NA *GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links H-DBASH-DBAS;  G-integraG-integra cDNA-genome alignmentcDNA-genome alignment

Predicted CDS information
HIP ID HIP000115474
Predicted CDS 843..1217;  124[aa];  Orientation:+3; 
Codon Adaptation Index (CAI). 0.722

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000093427
H-Inv cluster ID Locus viewHIX0038336
Accession number BC034424.1
CAGE tag ID NA
EST ID NA
Transcript feature  Help Representative H-Inv IDRepresentative transcript; 
Coding potential  Help Protein coding; 
Definition Similar to Beta-hexosaminidase subunit alpha; EC=3.2.1.52; Beta-N-acetylhexosaminidase subunit alpha; Hexosaminidase subunit A; N-acetyl-beta-glucosaminidase subunit alpha; Precursor;
Similarity category  Help Category: Similar to known protein(Category II).
Similar to known protein (P06865)  [Identity/coverage = 100.0%/6.24%] to Homo sapiens (Human). protein.
Experimental evidence Protein evidence
PubMed ID 130118913011901302612138432315322891533633182579218339741837283214409825226792933746295264129651472970528297139530138517717398783776678987127902672795126184456158490625858135786525428673609875703690905239150157933858393758509401008960343514566483154893341657217116698036179740051915921821269460ALL
Gene family/group Gene family H-Inv gene family/group ID NA
Gene family/group name NA
Evidence motif (InterPro) ID NA
Gene symbol/name HGNC symbol NA
HGNC aliases NA
HGNC name NA
DDBJ NA
UniProt HEXA
EC number EC 3.2.1.52beta-L-N-acetylhexosaminidase; 
GGDB
(GlycoGene Database)
Gene symbol NA
Familly NA
Designation NA
Expression NA
KEGG metabolic pathway 00511 :N-Glycan degradation;  00530 :Aminosugars metabolism;  00531 :Glycosaminoglycan degradation;  00603 :Glycosphingolipid biosynthesis - globoseries;  00604 :Glycosphingolipid biosynthesis - ganglioseries;  01032 :Glycan structures - degradation; 
Protein-protein interaction (PPI) PPI viewer H-Inv protein ID HIP000115474
No. of interaction NA
Interaction partner(s) NA
BIND NA
DIP NA
MINT NA
HPRD NA
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:3073
KEGG GENES KEGG GENES(3073)
GeneCard NA *GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases
Curation status Human curated
Notes NA
Related H-InvDB links Gene familyGene family;  Similarity Search ToolSimilarity Search Tool TACTTACT
fRNAdb (The functional RNA database) : overlapping fRNAdb entries with H-InvDB transcripts based on the location of the genome. 
NA


Subcellular localization information  Last modified:27-May-2015
WoLF PSORT extracellular;  nuclear;  cytosol;  Other; 
Target P mitochondria
SOSUI soluble protein
TMHMM soluble protein
PTS1 Targeted
Related H-InvDB links LIFEdb LIFEdb; 
JRE-1.4.0 or later is required. Download JRE at Sun's web site.

Gene expression information  H-ANGEL DNAProbeLocator Last modified:27-May-2015
Tissue-specific expression  H-ANGEL NA
Probe
information DNAProbeLocator
AceGene NA
Affymetrix
GeneChip
HG-Focus NA
HG-U133 NA
HG-U133A NA
HG-U133A_2 NA
HG-U133B NA
HG-U133_Plus_2 1556426_at; 
HG-U95 NA
HG-U95A NA
HG-U95B NA
HG-U95C NA
HG-U95D NA
HG-U95E NA
HG-U95Av2 NA
HuEx-1_0 3600695;  3600704;  3632186;  3632188; 
HuGeneFL NA
Agilent Human 1A Oligo Microarray:PGID215 NA
Whole Human Genome Oligo Microarray:PGID247 A_24_P222441; 
Related H-InvDB links H-ANGELH-ANGEL DNAProbeLocatorDNAProbeLocator

Disease/pathology information  DiseaseInfo Viewer LEGENDA Last modified:27-May-2015
Disease relation Disease name: [Hex A pseudodeficiency] (272800); 
Related information in OMIM OMIM ID:  606869;  Title: HEXOSAMINIDASE A
Co-localized orphan diseases NA
Disease related mutation MutationView:  606869
JRE-1.4.0 or later is required.Download JRE at Sun's web site.
Literature-Extracted GENe-Disease Associations (LEGENDA) LEGENDA Gene name Entrez Gene ID:(3073)
Disease Entrez Gene ID:(3073)
Substance Entrez Gene ID:(3073)
Related H-InvDB links DiseaseInfo ViewerDiseaseInfo ViewerLEGENDALEGENDA

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information  VaryGene Repeat mask viewer
 Single Nucleotide Polymorphism (SNP) and indel  VaryGene
Location Variation dbSNP ID Strand CDS/UTR Translation
161 .. 161 C/T rs191290668 + 5'UTR
198 .. 198 G/A rs200180873 + 5'UTR
235 .. 235 C/A/G/T rs4777502 + 5'UTR
242 .. 242 C/T rs121907955 - 5'UTR
243 .. 243 G/A rs28942071 - 5'UTR
257 .. 257 C/T rs121907956 - 5'UTR
258 .. 258 G/A rs121907966 - 5'UTR
263 .. 263 T/C rs147502219 + 5'UTR
300 .. 300 A/G rs121907968 - 5'UTR
309 .. 309 C/T rs121907952 - 5'UTR
310 .. 310 G/A rs140091006 + 5'UTR
318 .. 318 C/T rs145012038 + 5'UTR
331 .. 331 C/G rs121907981 - 5'UTR
356 .. 356 G/A rs149092488 + 5'UTR
400 .. 400 C/T rs2288259 + 5'UTR
457 .. 457 C/T rs182291884 + 5'UTR
483 .. 483 G/A rs143122027 + 5'UTR
568 .. 568 C/T rs8037749 + 5'UTR
694 .. 694 G/A rs186302273 + 5'UTR
827 .. 827 G/C rs74020947 + 5'UTR
831 .. 831 T/C rs57733983 + 5'UTR
834 .. 834 A/C rs189856670 + 5'UTR
891 .. 891 G/A rs140288703 + CDS Nonsynonymous[Gly17Ser]
963 .. 963 G/A rs180761893 + CDS Nonsynonymous[Glu41Lys]
1001 .. 1001 C/G rs185764548 + CDS Synonymous[Pro53Pro]
1002 .. 1002 C/G rs201497629 + CDS Nonsynonymous[Pro54Ala]
1004 .. 1004 G/A rs200757264 + CDS Synonymous[Pro54Pro]
1014 .. 1014 A/G/T rs111680766 + CDS
1015 .. 1015 C/G rs147324677 + CDS Nonsynonymous[Thr58Ser]
1040 .. 1040 T/C rs200936836 + CDS Synonymous[Cys66Cys]
1077 .. 1077 C/T rs121907978 - CDS AA-STOP[Gln79*]
1078 .. 1078 A/G rs113941121 + CDS Nonsynonymous[Gln79Arg]
1086 .. 1086 G/C rs28940871 - CDS Nonsynonymous[Glu82Gln]
1099 .. 1099 A/G rs34085965 + CDS Nonsynonymous[Gln86Arg]
1152 .. 1152 C/T rs2303448 + CDS Nonsynonymous[Pro104Ser]
1332 .. 1332 C/T rs1800431 - 3'UTR
1336 .. 1336 G/C rs202173526 + 3'UTR
1378 .. 1378 C/G rs121907958 - 3'UTR
1385 .. 1385 G/C rs201471936 + 3'UTR
1409 .. 1409 G/A rs151251788 + 3'UTR
1422 .. 1422 G/A rs140482769 + 3'UTR
1443 .. 1443 T/C rs1800430 - 3'UTR
1461 .. 1461 G/A rs121907963 - 3'UTR
1472 .. 1472 A/G rs146714642 + 3'UTR
1659 .. 1659 T/C rs184998038 + 3'UTR
1672 .. 1672 A/G rs151018457 + 3'UTR
1752 .. 1752 C/A rs189331330 + 3'UTR
1802 .. 1802 G/A rs181881350 + 3'UTR
1828 .. 1828 G/A rs112261002 + 3'UTR
1872 .. 1872 C/T rs121907980 - 3'UTR
1873 .. 1873 C/T rs121907954 - 3'UTR
1906 .. 1906 C/G rs121907971 - 3'UTR
1919 .. 1919 C/T rs117513345 + 3'UTR
1929 .. 1929 C/T rs121907959 - 3'UTR
1933 .. 1933 G/A rs138058578 + 3'UTR
1939 .. 1939 G/A rs121907970 - 3'UTR
1969 .. 1969 G/A rs150675340 + 3'UTR
2018 .. 2018 A/G rs75211071 + 3'UTR
2025 ^ 2026 -/T rs34093438 + 3'UTR
2221 .. 2221 G/A rs117879817 + 3'UTR
2299 .. 2299 G/T rs12908883 + 3'UTR
2458 .. 2458 A/C rs117160567 + 3'UTR
2518 .. 2518 C/G rs139948663 + 3'UTR
2528 .. 2528 A/G rs121907974 - 3'UTR
2531 .. 2531 G/A rs121907961 - 3'UTR
2549 .. 2549 T/C rs121907976 - 3'UTR
2562 .. 2562 C/T rs1800429 - 3'UTR
2570 .. 2570 T/G rs121907973 - 3'UTR
2578 .. 2578 C/G/T rs112614306 + 3'UTR
2590 .. 2590 C/A rs185429231 + 3'UTR
2643 .. 2643 T/C rs189451248 + 3'UTR
2984 .. 2984 C/A rs139615426 + 3'UTR
3022 .. 3022 A/G rs181440016 + 3'UTR
3099 .. 3099 G/C rs149732211 + 3'UTR
3130 .. 3130 A/T rs78156639 + 3'UTR
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
 Repeat  Repeat mask viewer
Type Start End Strand
MLT1K 1 167 +
MIRc 726 829 +
MIRc 2151 2377 -
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene;  Repeat mask viewerRepeat Mask Viewer