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HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10 [Homo sapiens (human)]

Gene Symbol HSD17B10
Entrez Gene ID 3028
Full Name hydroxysteroid (17-beta) dehydrogenase 10
Synonyms 17b-HSD10, ABAD, CAMR, DUPXp11.22, ERAB, HADH2, HCD2, MHBD, MRPP2, MRX17, MRX31, MRXS10, SCHAD, SDR5C1
General protein information
Preferred Names
3-hydroxyacyl-CoA dehydrogenase type-2
Names
3-hydroxyacyl-CoA dehydrogenase type-2
mitochondrial RNase P subunit 2
AB-binding alcohol dehydrogenase
mitochondrial ribonuclease P protein 2
3-hydroxy-2-methylbutyryl-CoA dehydrogenase
short chain type dehydrogenase/reductase XH98G2
amyloid-beta peptide binding alcohol dehydrogenase
short chain L-3-hydroxyacyl-CoA dehydrogenase type 2
short chain dehydrogenase/reductase family 5C, member 1
endoplasmic reticulum-associated amyloid beta-peptide-binding protein
NP_001032900.1
NP_004484.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xp11.2

Summary This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductase superfamily. The gene product is a mitochondrial protein that catalyzes the oxidation of a wide variety of fatty acids and steroids, and is a subunit of mitochondrial ribonuclease P, which is involved in tRNA maturation. The protein has been implicated in the development of Alzheimer disease, and mutations in the gene are the cause of 17beta-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Aug 2014]. lac of sum
Disorder MIM:

300256

Disorder Html: 17-beta-hydroxysteroid dehydrogenase X deficiency, 300438 (3);





The following HSD17B10 gene sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the HSD17B10 gene 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
OHu18260 NM_001037811 Homo sapiens hydroxysteroid (17-beta) dehydrogenase 10 (HSD17B10), transcript variant 2, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$199
OHu18855 NM_004493 Homo sapiens hydroxysteroid (17-beta) dehydrogenase 10 (HSD17B10), transcript variant 1, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$269

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


CloneID OHu18260
Accession Version NM_001037811.2
Sequence Information ORF Nucleotide Sequence (Length: 759bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 12-APR-2015
Organism Homo sapiens (human)
Product 3-hydroxyacyl-CoA dehydrogenase type-2 isoform 2
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AU132847.1, BC008708.1 and Z97054.1. This sequence is a reference standard in the RefSeqGene project. On Apr 11, 2006 this sequence version replaced gi:83715984. Summary: This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductase superfamily. The gene product is a mitochondrial protein that catalyzes the oxidation of a wide variety of fatty acids and steroids, and is a subunit of mitochondrial ribonuclease P, which is involved in tRNA maturation. The protein has been implicated in the development of Alzheimer disease, and mutations in the gene are the cause of 17beta-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Aug 2014]. Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter isoform (2). 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 :: BC008708.1, BF312822.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
ATGGCAGCAG CGTGTCGGAG CGTGAAGGGC CTGGTGGCGG TAATAACCGG AGGAGCCTCG 
GGCCTGGGCC TGGCCACGGC GGAGCGACTT GTGGGGCAGG GAGCCTCTGC TGTGCTTCTG
GACCTGCCCA ACTCGGGTGG GGAGGCCCAA GCCAAGAAGT TAGGAAACAA CTGCGTTTTC
GCCCCAGCCG ACGTGACCTC TGAGAAGGAT GTGCAAACAG CTCTGGCTCT AGCAAAAGGA
AAGTTTGGCC GTGTGGATGT AGCTGTCAAC TGTGCAGGCA TCGCGGTGGC TAGCAAGACG
TACAACTTAA AGAAGGGCCA GACCCATACC TTGGAAGACT TCCAGCGAGT TCTTGATGTG
AATCTCATGG GCACCTTCAA TGTGATCCGC CTGGTGGCTG GTGAGATGGG CCAGAATGAA
CCAGACCAGG GAGGCCAACG TGGGGTCATC ATCAACACTG CCAGTGTGGC TGCCTTCGAG
GGTCAGGTTG GACAAGCTGC ATACTCTGCT TCCAAGGGGG GAATAGTGGG CATGACACTG
CCCATTGCTC GGGATCTGGC TCCCATAGGT CTGTTTGGCA CCCCACTGCT GACCAGCCTC
CCAGAGAAAG TGTGCAACTT CTTGGCCAGC CAAGTGCCCT TCCCTAGCCG ACTGGGTGAC
CCTGCTGAGT ATGCTCACCT CGTACAGGCC ATCATCGAGA ACCCATTCCT CAATGGAGAG
GTCATCCGGC TGGATGGGGC CATTCGTATG CAGCCTTGA
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeqNP_001032900.1
CDS32..790
Misc Feature(1)50..784(+)
Misc Feature(2)56..787(+)
Misc Feature(3)80..622(+)
Misc Feature(4)326..787(+)
Misc Feature(5)326..787(+)
Misc Feature(6)392..547(+)
Exon (1)1..58
Gene:HSD17B10
Gene Synonym:
Exon (2)59..223
Gene:HSD17B10
Gene Synonym:
Exon (3)224..388
Gene:HSD17B10
Gene Synonym:
Exon (4)389..517
Gene:HSD17B10
Gene Synonym:
Exon (5)518..599
Gene:HSD17B10
Gene Synonym:
Exon (6)600..936
Gene:HSD17B10
Gene Synonym:
Translation
Position Chain Variation Link
225 225 c, t dbSNP:104886492
288 288 a, g dbSNP:587777651
395 395 c, g dbSNP:28935476
419 419 c, t dbSNP:28935475
744 744 a, g dbSNP:122461163
749 749 c, g dbSNP:62626305

Target ORF information:

RefSeq Version NM_001037811
Organism Homo sapiens (human)
Definition Homo sapiens hydroxysteroid (17-beta) dehydrogenase 10 (HSD17B10), transcript variant 2, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_001037811

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
ATGGCAGCAG CGTGTCGGAG CGTGAAGGGC CTGGTGGCGG TAATAACCGG AGGAGCCTCG 
GGCCTGGGCC TGGCCACGGC GGAGCGACTT GTGGGGCAGG GAGCCTCTGC TGTGCTTCTG
GACCTGCCCA ACTCGGGTGG GGAGGCCCAA GCCAAGAAGT TAGGAAACAA CTGCGTTTTC
GCCCCAGCCG ACGTGACCTC TGAGAAGGAT GTGCAAACAG CTCTGGCTCT AGCAAAAGGA
AAGTTTGGCC GTGTGGATGT AGCTGTCAAC TGTGCAGGCA TCGCGGTGGC TAGCAAGACG
TACAACTTAA AGAAGGGCCA GACCCATACC TTGGAAGACT TCCAGCGAGT TCTTGATGTG
AATCTCATGG GCACCTTCAA TGTGATCCGC CTGGTGGCTG GTGAGATGGG CCAGAATGAA
CCAGACCAGG GAGGCCAACG TGGGGTCATC ATCAACACTG CCAGTGTGGC TGCCTTCGAG
GGTCAGGTTG GACAAGCTGC ATACTCTGCT TCCAAGGGGG GAATAGTGGG CATGACACTG
CCCATTGCTC GGGATCTGGC TCCCATAGGT CTGTTTGGCA CCCCACTGCT GACCAGCCTC
CCAGAGAAAG TGTGCAACTT CTTGGCCAGC CAAGTGCCCT TCCCTAGCCG ACTGGGTGAC
CCTGCTGAGT ATGCTCACCT CGTACAGGCC ATCATCGAGA ACCCATTCCT CAATGGAGAG
GTCATCCGGC TGGATGGGGC CATTCGTATG CAGCCTTGA

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

CloneID OHu18855
Accession Version NM_004493.2
Sequence Information ORF Nucleotide Sequence (Length: 786bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 12-APR-2015
Organism Homo sapiens (human)
Product 3-hydroxyacyl-CoA dehydrogenase type-2 isoform 1
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AU132847.1, BC000372.2 and Z97054.1. This sequence is a reference standard in the RefSeqGene project. On Apr 11, 2006 this sequence version replaced gi:4758503. Summary: This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductase superfamily. The gene product is a mitochondrial protein that catalyzes the oxidation of a wide variety of fatty acids and steroids, and is a subunit of mitochondrial ribonuclease P, which is involved in tRNA maturation. The protein has been implicated in the development of Alzheimer disease, and mutations in the gene are the cause of 17beta-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Aug 2014]. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). 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 :: U73514.1, U96132.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
ATGGCAGCAG CGTGTCGGAG CGTGAAGGGC CTGGTGGCGG TAATAACCGG AGGAGCCTCG 
GGCCTGGGCC TGGCCACGGC GGAGCGACTT GTGGGGCAGG GAGCCTCTGC TGTGCTTCTG
GACCTGCCCA ACTCGGGTGG GGAGGCCCAA GCCAAGAAGT TAGGAAACAA CTGCGTTTTC
GCCCCAGCCG ACGTGACCTC TGAGAAGGAT GTGCAAACAG CTCTGGCTCT AGCAAAAGGA
AAGTTTGGCC GTGTGGATGT AGCTGTCAAC TGTGCAGGCA TCGCGGTGGC TAGCAAGACG
TACAACTTAA AGAAGGGCCA GACCCATACC TTGGAAGACT TCCAGCGAGT TCTTGATGTG
AATCTCATGG GCACCTTCAA TGTGATCCGC CTGGTGGCTG GTGAGATGGG CCAGAATGAA
CCAGACCAGG GAGGCCAACG TGGGGTCATC ATCAACACTG CCAGTGTGGC TGCCTTCGAG
GGTCAGGTTG GACAAGCTGC ATACTCTGCT TCCAAGGGGG GAATAGTGGG CATGACACTG
CCCATTGCTC GGGATCTGGC TCCCATAGGT ATCCGGGTGA TGACCATTGC CCCAGGTCTG
TTTGGCACCC CACTGCTGAC CAGCCTCCCA GAGAAAGTGT GCAACTTCTT GGCCAGCCAA
GTGCCCTTCC CTAGCCGACT GGGTGACCCT GCTGAGTATG CTCACCTCGT ACAGGCCATC
ATCGAGAACC CATTCCTCAA TGGAGAGGTC ATCCGGCTGG ATGGGGCCAT TCGTATGCAG
CCTTGA
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeqNP_004484.1
CDS32..817
Misc Feature(1)35..37(+)
Misc Feature(2)50..811(+)
Misc Feature(3)56..814(+)
Misc Feature(4)80..649(+)
Misc Feature(5)188..190(+)
Misc Feature(6)188..190(+)
Misc Feature(7)236..238(+)
Misc Feature(8)326..814(+)
Misc Feature(9)326..814(+)
Misc Feature(10)326..328(+)
Misc Feature(11)344..346(+)
Misc Feature(12)392..547(+)
Misc Feature(13)665..667(+)
Misc Feature(14)665..667(+)
Exon (1)1..58
Gene:HSD17B10
Gene Synonym:
Exon (2)59..223
Gene:HSD17B10
Gene Synonym:
Exon (3)224..388
Gene:HSD17B10
Gene Synonym:
Exon (4)389..517
Gene:HSD17B10
Gene Synonym:
Exon (5)518..626
Gene:HSD17B10
Gene Synonym:
Exon (6)627..963
Gene:HSD17B10
Gene Synonym:
Translation
Position Chain Variation Link
225 225 c, t dbSNP:104886492
288 288 a, g dbSNP:587777651
395 395 c, g dbSNP:28935476
419 419 c, t dbSNP:28935475
605 605 a, c dbSNP:122462164
771 771 a, g dbSNP:122461163
776 776 c, g dbSNP:62626305

Target ORF information:

RefSeq Version NM_004493
Organism Homo sapiens (human)
Definition Homo sapiens hydroxysteroid (17-beta) dehydrogenase 10 (HSD17B10), transcript variant 1, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_004493

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
ATGGCAGCAG CGTGTCGGAG CGTGAAGGGC CTGGTGGCGG TAATAACCGG AGGAGCCTCG 
GGCCTGGGCC TGGCCACGGC GGAGCGACTT GTGGGGCAGG GAGCCTCTGC TGTGCTTCTG
GACCTGCCCA ACTCGGGTGG GGAGGCCCAA GCCAAGAAGT TAGGAAACAA CTGCGTTTTC
GCCCCAGCCG ACGTGACCTC TGAGAAGGAT GTGCAAACAG CTCTGGCTCT AGCAAAAGGA
AAGTTTGGCC GTGTGGATGT AGCTGTCAAC TGTGCAGGCA TCGCGGTGGC TAGCAAGACG
TACAACTTAA AGAAGGGCCA GACCCATACC TTGGAAGACT TCCAGCGAGT TCTTGATGTG
AATCTCATGG GCACCTTCAA TGTGATCCGC CTGGTGGCTG GTGAGATGGG CCAGAATGAA
CCAGACCAGG GAGGCCAACG TGGGGTCATC ATCAACACTG CCAGTGTGGC TGCCTTCGAG
GGTCAGGTTG GACAAGCTGC ATACTCTGCT TCCAAGGGGG GAATAGTGGG CATGACACTG
CCCATTGCTC GGGATCTGGC TCCCATAGGT ATCCGGGTGA TGACCATTGC CCCAGGTCTG
TTTGGCACCC CACTGCTGAC CAGCCTCCCA GAGAAAGTGT GCAACTTCTT GGCCAGCCAA
GTGCCCTTCC CTAGCCGACT GGGTGACCCT GCTGAGTATG CTCACCTCGT ACAGGCCATC
ATCGAGAACC CATTCCTCAA TGGAGAGGTC ATCCGGCTGG ATGGGGCCAT TCGTATGCAG
CCTTGA

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