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H-InvDB_9.0 released on May 27, 2015.
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H-Invitational ID: HIT000038476 Accession number: BC018927 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: 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 BC018927.2
CAGE tag ID NA
EST ID NA
Clone Number MGC:14125 IMAGE:3353424
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ; Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (PARP6) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (PARP6);
Sequence data provider Provider:MGC/NCI
Annotation project H-Invitational FLcDNA
Length of cDNA 1808[bp] (No. of exon:14)[A:401 T:455 G:479 C:473]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type Eye, retinoblastoma
Develpmental stage NA
Mini-G
Sequence quality information
CDS feature Complete CDS
Kozak sequence NA
PolyA Site: 1791(+) Signal: 1760-1764(+)
Vector/adapter sequence NA
Frame shift NA
Remaining intron NA
Splice site acceptor (NAGNAG) NA
Transcript quality feature NA
Notes NA

Gene structure information  G-integra H-DBAS cDNA-genome alignment
H-Inv cluster ID HIX0012405
Genomic location  G-integra Help Chromosome 15
Location 15q23
Position 72636228- 72668324
Strand -
Possible duplicated location(s) NA
Gene structure 14 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:3073
KEGG GENES KEGG GENES(3073)
GeneCard GeneCardPARP6*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 HIP000108913
Predicted CDS 12..1601;  529[aa];  Orientation:+3; 
Codon Adaptation Index (CAI). 0.78

Motif information
ORF

length(529),orf(12:1601)
MTSSRLWFSLLLAAAFAGRATALWPWPQNFQTSDQRYVLYPNNFQFQYDV
SSAAQPGCSVLDEAFQRYRDLLFGSGSWPRPYLTGKRHTLEKNVLVVSVV
TPGCNQLPTLESVENYTLTINDDQCLLLSETVWGALRGLETFSQLVWKSA
EGTFFINKTEIEDFPRFPHRGLLLDTSRHYLPLSSILDTLDVMAYNKLNV
FHWHLVDDPSFPYESFTFPELMRKGSYNPVTHIYTAQDVKEVIEYARLRG
IRVLAEFDTPGHTLSWGPGIPGLLTPCYSGSEPSGTFGPVNPSLNNTYEF
MSTFFLEVSSVFPDFYLHLGGDEVDFTCWKSNPEIQDFMRKKGFGEDFKQ
LESFYIQTLLDIVSSYGKGYVVWQEVFDNKVKIQPDTIIQVWREDIPVNY
MKELELVTKAGFRALLSAPWYLNRISYGPDWKDFYVVEPLAFEGTPEQKA
LVIGGEACMWGEYVDNTNLVPRLWPRAGAVAERLWSNKLTSDLTFAYERL
SHFRCELLRRGVQAQPLNVGFCEQEFEQT*
a.a.
length
InterPro Name
length(145), motif(20:164) 145 IPR029018 Chitobiase/beta-hexosaminidase domain 2-like [Domain]
length(123), motif(23:145) 123 IPR029019 Beta-hexosaminidase, eukaryotic type, N-terminal [Domain]
length(144), motif(23:166) 144 IPR029018 Chitobiase/beta-hexosaminidase domain 2-like [Domain]
length(21), motif(125:145) 21 IPR025705 Beta-hexosaminidase [Family]
length(18), motif(161:178) 18 IPR025705 Beta-hexosaminidase [Family]
length(361), motif(165:525) 361 IPR013781 Glycoside hydrolase, catalytic domain [Domain]
length(359), motif(167:525) 359 IPR017853 Glycoside hydrolase superfamily [Domain]
length(321), motif(167:487) 321 IPR015883 Glycoside hydrolase family 20, catalytic core [Domain]
length(22), motif(190:211) 22 IPR025705 Beta-hexosaminidase [Family]
length(18), motif(245:262) 18 IPR025705 Beta-hexosaminidase [Family]
length(19), motif(290:308) 19 IPR025705 Beta-hexosaminidase [Family]
length(14), motif(312:325) 14 IPR025705 Beta-hexosaminidase [Family]
length(17), motif(452:468) 17 IPR025705 Beta-hexosaminidase [Family]
length(18), motif(469:486) 18 IPR025705 Beta-hexosaminidase [Family]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000038476
H-Inv cluster ID Locus viewHIX0012405
Accession number BC018927.2
CAGE tag ID NA
EST ID NA
Transcript feature  Help NO;  Splicing isoformSplicing isoform
Coding potential  Help Protein coding; 
Definition 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: Identical to known human protein(Category I).
Identical to known human protein (P06865)  [Identity/coverage = 99.811%/100.0%] 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 PARP6
HGNC aliases NA
HGNC name poly (ADP-ribose) polymerase family, member 6
DDBJ HEXA
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 HIP000108913
No. of interaction 167
Interaction partner(s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
BIND NA
DIP 131864E;  131944E;  132364E; 
MINT MINT-65788; 
HPRD 01809;  02034;  03465; 
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:3073
KEGG GENES KEGG GENES(3073)
GeneCard GeneCardPARP6*GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases
Curation status Auto-annotated
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

Gene ontology information
Molecular function beta-N-acetylhexosaminidase activity (GO:0004563);  hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553); 
Biological process carbohydrate metabolic process (GO:0005975); 

Subcellular localization information  Last modified:27-May-2015
WoLF PSORT mitochondria;  cytosol;  extracellular;  Other; 
Target P signal peptide
SOSUI membrane protein
TMHMM soluble protein
PTS1 Not targeted
Related H-InvDB links LIFEdb LIFEdb; 
JRE-1.4.0 or later is required. Download JRE at Sun's web site.

Protein structure information (GTOP) GTOP Last modified:27-May-2015
Start End PDB_ID E-value Identity Coverage SCOP_ID
25 166 1nouA2 2e-27 40.6 128/131 d.92.2.1
169 463 1yhtA1 4e-61 23.1 277/344 c.1.8.6
Related H-InvDB links GTOP GTOP

Gene expression information  H-ANGEL DNAProbeLocator Last modified:27-May-2015
Tissue-specific expression  H-ANGEL NA
Probe
information DNAProbeLocator
AceGene AGhsA160609; 
Affymetrix
GeneChip
HG-Focus 201765_s_at; 
HG-U133 201765_s_at; 
HG-U133A 201765_s_at; 
HG-U133A_2 201765_s_at; 
HG-U133B NA
HG-U133_Plus_2 201765_s_at; 
HG-U95 39340_at;  48251_at; 
HG-U95A 39340_at; 
HG-U95B 48251_at; 
HG-U95C NA
HG-U95D NA
HG-U95E NA
HG-U95Av2 NA
HuEx-1_0 3632170;  3632171;  3632172;  3632181;  3632183;  3632184;  3632189;  3632190; 
HuGeneFL M16424_at; 
Agilent Human 1A Oligo Microarray:PGID215 A_23_P129096; 
Whole Human Genome Oligo Microarray:PGID247 A_23_P129101; 
Related H-InvDB links H-ANGELH-ANGEL DNAProbeLocatorDNAProbeLocator

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
12 .. 12 A/G rs121907965 + CDS Nonsynonymous[Met1Val]
20 .. 20 T/C rs1800428 + CDS Synonymous[Ser3Ser]
21 .. 21 T/C rs146938346 - CDS Nonsynonymous[Ser4Pro]
43 .. 43 T/C rs141120074 - CDS Nonsynonymous[Leu11Pro]
49 .. 49 C/T rs145666272 - CDS Nonsynonymous[Ala13Val]
80 .. 80 C/G rs143554538 - CDS Synonymous[Leu23Leu]
89 .. 89 G/A rs121907964 + CDS AA-STOP[Trp26*]
115 .. 115 A/C rs140868947 - CDS Nonsynonymous[Gln35Pro]
127 .. 127 T/G rs121907979 + CDS Nonsynonymous[Leu39Arg]
138 .. 138 A/G rs150987996 - CDS Nonsynonymous[Asn43Asp]
145 .. 145 A/C rs144089645 - CDS Nonsynonymous[Gln45Pro]
150 .. 150 C/T rs140093519 - CDS AA-STOP[Gln47*]
187 .. 187 C/T rs146577256 - CDS Nonsynonymous[Ser59Leu]
252 .. 252 C/G rs144231599 - CDS Nonsynonymous[Pro81Ala]
338 .. 338 T/C rs11551324 + CDS Synonymous[Thr109Thr]
391 .. 391 T/G rs121907975 + CDS Nonsynonymous[Leu127Arg]
420 .. 420 C/T rs121907962 + CDS AA-STOP[Arg137*]
519 .. 519 C/T rs121907972 + CDS Nonsynonymous[Arg170Trp]
520 .. 520 G/A rs121907957 + CDS Nonsynonymous[Arg170Gln]
528 .. 528 C/T rs200743199 - CDS Synonymous[Leu173Leu]
543 .. 543 C/T rs121907953 + CDS Nonsynonymous[Arg178Cys]
544 .. 544 G/A/T rs28941770 + CDS
545 .. 545 C/T rs75174831 - CDS Synonymous[Arg178Arg]
549 .. 549 T/C rs28941771 + CDS Nonsynonymous[Tyr180His]
550 .. 550 A/C rs200513831 - CDS Nonsynonymous[Tyr180Ser]
551 .. 551 C/G rs121907969 + CDS AA-STOP[Tyr180*]
556 .. 556 C/T rs148511084 - CDS Nonsynonymous[Pro182Leu]
559 .. 559 T/A rs185797496 - CDS Nonsynonymous[Leu183His]
569 .. 569 C/T rs144652159 - CDS Synonymous[Ile186Ile]
593 .. 593 G/C/A rs112614306 - CDS
601 .. 601 A/C rs121907973 + CDS Nonsynonymous[Lys197Thr]
609 .. 609 G/A rs1800429 + CDS Nonsynonymous[Val200Met]
622 .. 622 A/G rs121907976 + CDS Nonsynonymous[His204Arg]
640 .. 640 C/T rs121907961 + CDS Nonsynonymous[Ser210Phe]
643 .. 643 T/C rs121907974 + CDS Nonsynonymous[Phe211Ser]
653 .. 653 G/C rs139948663 - CDS Nonsynonymous[Glu214Asp]
720 .. 720 C/T rs150675340 - CDS AA-STOP[Gln237*]
750 .. 750 C/T rs121907970 + CDS Nonsynonymous[Arg247Trp]
756 .. 756 C/T rs138058578 - CDS Nonsynonymous[Arg249Trp]
760 .. 760 G/A rs121907959 + CDS Nonsynonymous[Gly250Asp]
770 .. 770 G/A rs117513345 - CDS Synonymous[Val253Val]
783 .. 783 G/C rs121907971 + CDS Nonsynonymous[Asp258His]
816 .. 816 G/A rs121907954 + CDS Nonsynonymous[Gly269Ser]
847 .. 847 C/G rs148199798 - CDS Nonsynonymous[Ser279Cys]
887 .. 887 C/T rs143009489 - CDS Synonymous[Pro292Pro]
889 .. 889 G/T rs1054374 + CDS Nonsynonymous[Ser293Ile]
895 .. 895 A/G rs199578185 - CDS Nonsynonymous[Asn295Ser]
913 .. 913 T/G rs121907977 + CDS Nonsynonymous[Met301Arg]
983 .. 983 T/A/C rs28942072 + CDS
998 .. 998 G/A rs121907967 + CDS AA-STOP[Trp329*]
1025 .. 1025 T/C rs149121118 - CDS Synonymous[Phe338Phe]
1039 .. 1039 G/T rs191330716 - CDS Nonsynonymous[Gly343Val]
1118 .. 1118 C/T rs140337137 - CDS Synonymous[Gly369Gly]
1135 .. 1135 A/G rs199954138 - CDS Nonsynonymous[Glu375Gly]
1138 .. 1138 T/G rs78532913 - CDS Nonsynonymous[Val376Gly]
1177 .. 1177 T/C rs146714642 - CDS Nonsynonymous[Ile389Thr]
1188 .. 1188 C/T rs121907963 + CDS AA-STOP[Arg393*]
1206 .. 1206 A/G rs1800430 + CDS Nonsynonymous[Asn399Asp]
1227 .. 1227 C/T rs140482769 - CDS Synonymous[Leu406Leu]
1240 .. 1240 C/T rs151251788 - CDS Nonsynonymous[Ala410Val]
1264 .. 1264 C/G rs201471936 - CDS Nonsynonymous[Ala418Gly]
1271 .. 1271 G/C rs121907958 + CDS Nonsynonymous[Trp420Cys]
1313 .. 1313 C/G rs202173526 - CDS Nonsynonymous[Phe434Leu]
1317 .. 1317 G/A rs1800431 + CDS Nonsynonymous[Val436Ile]
1349 .. 1349 T/C rs34085965 - CDS Synonymous[Pro446Pro]
1362 .. 1362 C/G rs28940871 + CDS Nonsynonymous[Leu451Val]
1370 .. 1370 T/C rs113941121 - CDS Synonymous[Ile453Ile]
1371 .. 1371 G/A rs121907978 + CDS Nonsynonymous[Gly454Ser]
1408 .. 1408 A/G rs200936836 - CDS Nonsynonymous[Asn466Ser]
1433 .. 1433 G/C rs121907981 + CDS Nonsynonymous[Trp474Cys]
1446 .. 1446 G/A rs145012038 - CDS Nonsynonymous[Ala479Thr]
1454 .. 1454 C/T rs140091006 - CDS Synonymous[Ala481Ala]
1455 .. 1455 G/A rs121907952 + CDS Nonsynonymous[Glu482Lys]
1464 .. 1464 T/C rs121907968 + CDS Nonsynonymous[Trp485Arg]
1501 .. 1501 A/G rs147502219 - CDS Nonsynonymous[Tyr497Cys]
1506 .. 1506 C/T rs121907966 + CDS Nonsynonymous[Arg499Cys]
1507 .. 1507 G/A rs121907956 + CDS Nonsynonymous[Arg499His]
1521 .. 1521 C/T rs28942071 + CDS Nonsynonymous[Arg504Cys]
1522 .. 1522 G/A rs121907955 + CDS Nonsynonymous[Arg504His]
1529 .. 1529 G/T/C/A rs4777502 - CDS
1680 .. 1680 C/T rs181233715 - 3'UTR
1783 .. 1783 T/- rs34300017 - 3'UTR
1784 .. 1784 C/T rs1054432 + 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
No data available
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene;  Repeat mask viewerRepeat Mask Viewer