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HEXA cDNA ORF clone, Homo sapiens (human)

Gene Symbol HEXA
Entrez Gene ID 3073
Full Name hexosaminidase A (alpha polypeptide)
Synonyms TSD
General protein information
Preferred Names
beta-hexosaminidase subunit alpha
Names
beta-hexosaminidase subunit alpha
hexosaminidase subunit A
beta-N-acetylhexosaminidase subunit alpha
N-acetyl-beta-glucosaminidase subunit alpha
NP_000511.2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

15

15q24.1

Summary This gene encodes the alpha subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I). [provided by RefSeq, Jul 2009]. lac of sum
Disorder MIM:

606869

Disorder Html: Tay-Sachs disease, 272800 (3); GM2-gangliosidosis, several forms,

mRNA and Protein(s)

mRNA Protein Name
NM_000520 NP_000511 beta-hexosaminidase subunit alpha preproprotein



Homo sapiens (human) HEXA NP_000511.2
Pan troglodytes (chimpanzee) HEXA XP_001175124.1
Macaca mulatta (Rhesus monkey) HEXA XP_001092589.1
Canis lupus familiaris (dog) HEXA XP_544758.2
Bos taurus (cattle) HEXA NP_001068632.1
Mus musculus (house mouse) Hexa NP_034551.2
Rattus norvegicus (Norway rat) Hexa NP_001004443.1
Gallus gallus (chicken) HEXA NP_001025561.1
Danio rerio (zebrafish) zgc:112084 NP_001017763.1
Arabidopsis thaliana (thale cress) HEXO3 NP_176737.2


GeneRIFs: Gene References Into Functions What's a GeneRIF?

The following HEXA gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the HEXA cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

***CloneID RefSeq Accession Definition **Vector *Turnaround time Price Select
OHu18820
NM_000520 Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$189.50-$265.30
$379.00
Next-day Shipping ORF Clones ( in default vector with tag)
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*Business Day

** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.


CloneID OHu18820
Clone ID Related Accession (Same CDS sequence) NM_000520
Accession Version NM_000520.4 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1590bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product beta-hexosaminidase subunit alpha preproprotein
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DC356933.1, BC018927.2 and AC009690.17. This sequence is a reference standard in the RefSeqGene project. On May 30, 2008 this sequence version replaced gi:119395761. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: M13520.1, CR627386.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA962346 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
1561
ATGACAAGCT CCAGGCTTTG GTTTTCGCTG CTGCTGGCGG CAGCGTTCGC AGGACGGGCG 
ACGGCCCTCT GGCCCTGGCC TCAGAACTTC CAAACCTCCG ACCAGCGCTA CGTCCTTTAC
CCGAACAACT TTCAATTCCA GTACGATGTC AGCTCGGCCG CGCAGCCCGG CTGCTCAGTC
CTCGACGAGG CCTTCCAGCG CTATCGTGAC CTGCTTTTCG GTTCCGGGTC TTGGCCCCGT
CCTTACCTCA CAGGGAAACG GCATACACTG GAGAAGAATG TGTTGGTTGT CTCTGTAGTC
ACACCTGGAT GTAACCAGCT TCCTACTTTG GAGTCAGTGG AGAATTATAC CCTGACCATA
AATGATGACC AGTGTTTACT CCTCTCTGAG ACTGTCTGGG GAGCTCTCCG AGGTCTGGAG
ACTTTTAGCC AGCTTGTTTG GAAATCTGCT GAGGGCACAT TCTTTATCAA CAAGACTGAG
ATTGAGGACT TTCCCCGCTT TCCTCACCGG GGCTTGCTGT TGGATACATC TCGCCATTAC
CTGCCACTCT CTAGCATCCT GGACACTCTG GATGTCATGG CGTACAATAA ATTGAACGTG
TTCCACTGGC ATCTGGTAGA TGATCCTTCC TTCCCATATG AGAGCTTCAC TTTTCCAGAG
CTCATGAGAA AGGGGTCCTA CAACCCTGTC ACCCACATCT ACACAGCACA GGATGTGAAG
GAGGTCATTG AATACGCACG GCTCCGGGGT ATCCGTGTGC TTGCAGAGTT TGACACTCCT
GGCCACACTT TGTCCTGGGG ACCAGGTATC CCTGGATTAC TGACTCCTTG CTACTCTGGG
TCTGAGCCCT CTGGCACCTT TGGACCAGTG AATCCCAGTC TCAATAATAC CTATGAGTTC
ATGAGCACAT TCTTCTTAGA AGTCAGCTCT GTCTTCCCAG ATTTTTATCT TCATCTTGGA
GGAGATGAGG TTGATTTCAC CTGCTGGAAG TCCAACCCAG AGATCCAGGA CTTTATGAGG
AAGAAAGGCT TCGGTGAGGA CTTCAAGCAG CTGGAGTCCT TCTACATCCA GACGCTGCTG
GACATCGTCT CTTCTTATGG CAAGGGCTAT GTGGTGTGGC AGGAGGTGTT TGATAATAAA
GTAAAGATTC AGCCAGACAC AATCATACAG GTGTGGCGAG AGGATATTCC AGTGAACTAT
ATGAAGGAGC TGGAACTGGT CACCAAGGCC GGCTTCCGGG CCCTTCTCTC TGCCCCCTGG
TACCTGAACC GTATATCCTA TGGCCCTGAC TGGAAGGATT TCTACATAGT GGAACCCCTG
GCATTTGAAG GTACCCCTGA GCAGAAGGCT CTGGTGATTG GTGGAGAGGC TTGTATGTGG
GGAGAATATG TGGACAACAC AAACCTGGTC CCCAGGCTCT GGCCCAGAGC AGGGGCTGTT
GCCGAAAGGC TGTGGAGCAA CAAGTTGACA TCTGACCTGA CATTTGCCTA TGAACGTTTG
TCACACTTCC GCTGTGAATT GCTGAGGCGA GGTGTCCAGG CCCAACCCCT CAATGTAGGC
TTCTGTGAGC AGGAGTTTGA ACAGACCTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_000511.2
CDS208..1797
Misc Feature(1)121..123(+)
Misc Feature(2)274..642(+)
Misc Feature(3)706..1740(+)
Misc Feature(4)739..1593(+)
Misc Feature(5)1474..1479(+)
Exon (1)1..460
Gene:HEXA
Gene Synonym:
Exon (2)461..553
Gene:HEXA
Gene Synonym:
Exon (3)554..619
Gene:HEXA
Gene Synonym:
Exon (4)620..666
Gene:HEXA
Gene Synonym:
Exon (5)667..777
Gene:HEXA
Gene Synonym:
Exon (6)778..879
Gene:HEXA
Gene Synonym:
Exon (7)880..1012
Gene:HEXA
Gene Synonym:
Exon (8)1013..1193
Gene:HEXA
Gene Synonym:
Exon (9)1194..1280
Gene:HEXA
Gene Synonym:
Exon (10)1281..1353
Gene:HEXA
Gene Synonym:
Exon (11)1354..1537
Gene:HEXA
Gene Synonym:
Exon (12)1538..1628
Gene:HEXA
Gene Synonym:
Exon (13)1629..1733
Gene:HEXA
Gene Synonym:
Exon (14)1734..2437
Gene:HEXA
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_000520
Organism Homo sapiens (human)
Definition Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_000520

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
1561
ATGACAAGCT CCAGGCTTTG GTTTTCGCTG CTGCTGGCGG CAGCGTTCGC AGGACGGGCG 
ACGGCCCTCT GGCCCTGGCC TCAGAACTTC CAAACCTCCG ACCAGCGCTA CGTCCTTTAC
CCGAACAACT TTCAATTCCA GTACGATGTC AGCTCGGCCG CGCAGCCCGG CTGCTCAGTC
CTCGACGAGG CCTTCCAGCG CTATCGTGAC CTGCTTTTCG GTTCCGGGTC TTGGCCCCGT
CCTTACCTCA CAGGGAAACG GCATACACTG GAGAAGAATG TGTTGGTTGT CTCTGTAGTC
ACACCTGGAT GTAACCAGCT TCCTACTTTG GAGTCAGTGG AGAATTATAC CCTGACCATA
AATGATGACC AGTGTTTACT CCTCTCTGAG ACTGTCTGGG GAGCTCTCCG AGGTCTGGAG
ACTTTTAGCC AGCTTGTTTG GAAATCTGCT GAGGGCACAT TCTTTATCAA CAAGACTGAG
ATTGAGGACT TTCCCCGCTT TCCTCACCGG GGCTTGCTGT TGGATACATC TCGCCATTAC
CTGCCACTCT CTAGCATCCT GGACACTCTG GATGTCATGG CGTACAATAA ATTGAACGTG
TTCCACTGGC ATCTGGTAGA TGATCCTTCC TTCCCATATG AGAGCTTCAC TTTTCCAGAG
CTCATGAGAA AGGGGTCCTA CAACCCTGTC ACCCACATCT ACACAGCACA GGATGTGAAG
GAGGTCATTG AATACGCACG GCTCCGGGGT ATCCGTGTGC TTGCAGAGTT TGACACTCCT
GGCCACACTT TGTCCTGGGG ACCAGGTATC CCTGGATTAC TGACTCCTTG CTACTCTGGG
TCTGAGCCCT CTGGCACCTT TGGACCAGTG AATCCCAGTC TCAATAATAC CTATGAGTTC
ATGAGCACAT TCTTCTTAGA AGTCAGCTCT GTCTTCCCAG ATTTTTATCT TCATCTTGGA
GGAGATGAGG TTGATTTCAC CTGCTGGAAG TCCAACCCAG AGATCCAGGA CTTTATGAGG
AAGAAAGGCT TCGGTGAGGA CTTCAAGCAG CTGGAGTCCT TCTACATCCA GACGCTGCTG
GACATCGTCT CTTCTTATGG CAAGGGCTAT GTGGTGTGGC AGGAGGTGTT TGATAATAAA
GTAAAGATTC AGCCAGACAC AATCATACAG GTGTGGCGAG AGGATATTCC AGTGAACTAT
ATGAAGGAGC TGGAACTGGT CACCAAGGCC GGCTTCCGGG CCCTTCTCTC TGCCCCCTGG
TACCTGAACC GTATATCCTA TGGCCCTGAC TGGAAGGATT TCTACATAGT GGAACCCCTG
GCATTTGAAG GTACCCCTGA GCAGAAGGCT CTGGTGATTG GTGGAGAGGC TTGTATGTGG
GGAGAATATG TGGACAACAC AAACCTGGTC CCCAGGCTCT GGCCCAGAGC AGGGGCTGTT
GCCGAAAGGC TGTGGAGCAA CAAGTTGACA TCTGACCTGA CATTTGCCTA TGAACGTTTG
TCACACTTCC GCTGTGAATT GCTGAGGCGA GGTGTCCAGG CCCAACCCCT CAATGTAGGC
TTCTGTGAGC AGGAGTTTGA ACAGACCTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

book

[Molecular pathogenesis and therapeutic approach of GM2 gangliosidosis]
Yakugaku Zasshi 133 (2), 269-274 (2013)
Tsuji D.


book

GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients
Gene 506 (1), 25-30 (2012)
Gort L, de Olano N, Macias-Vidal J and Coll MA.


book

Identification of domains in human beta-hexosaminidase that determine substrate specificity
J. Biol. Chem. 271 (29), 17377-17382 (1996)
Pennybacker M, Liessem B, Moczall H, Tifft CJ, Sandhoff K and Proia RL.


book

Hexosaminidase A Deficiency
(in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Kaback,M.M. and Desnick,R.J.


book

Oligosaccharide structure and amino acid sequence of the major glycopeptides of mature human beta-hexosaminidase
Biochemistry 27 (14), 5216-5226 (1988)
O'Dowd BF, Cumming DA, Gravel RA and Mahuran D.


book

Proteolytic processing of the alpha-chain of the lysosomal enzyme, beta-hexosaminidase, in normal human fibroblasts
J. Biol. Chem. 263 (9), 4288-4292 (1988)
Little LE, Lau MM, Quon DV, Fowler AV and Neufeld EF.


book

Organization of the gene encoding the human beta-hexosaminidase alpha-chain
J. Biol. Chem. 262 (12), 5677-5681 (1987)
Proia,R.L. and Soravia,E.


book

Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain
Proc. Natl. Acad. Sci. U.S.A. 82 (23), 7830-7834 (1985)
Myerowitz,R., Piekarz,R., Neufeld,E.F., Shows,T.B. and Suzuki,K.


book

Hexosaminidase isozyme in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease)
Am. J. Hum. Genet. 27 (5), 628-638 (1975)
Beutler,E., Kuhl,W. and Comings,D.


book

Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes
Proc. Natl. Acad. Sci. U.S.A. 72 (1), 263-267 (1975)
Gilbert,F., Kucherlapati,R., Creagan,R.P., Murnane,M.J., Darlington,G.J. and Ruddle,F.H.


 
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