The following HTT gene sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the HTT 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.
||ORF Nucleotide Sequence (Length: 9435bp)
||pcDNA3.1+/C-(K)DYK or customized vector
|Tag on pcDNA3.1+/C-(K)DYK
||C terminal DYKDDDDK tags
|ORF Insert Method
||CloneEZ® Seamless cloning technology
||Homo sapiens (human)
||REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AL390059.10, L12392.1 and
On Feb 26, 2014 this sequence version replaced gi:90903230.
Summary: Huntingtin is a disease gene linked to Huntington's
disease, a neurodegenerative disorder characterized by loss of
striatal neurons. This is thought to be caused by an expanded,
unstable trinucleotide repeat in the huntingtin gene, which
translates as a polyglutamine repeat in the protein product. A
fairly broad range in the number of trinucleotide repeats has been
identified in normal controls, and repeat numbers in excess of 40
have been described as pathological. The huntingtin locus is large,
spanning 180 kb and consisting of 67 exons. The huntingtin gene is
widely expressed and is required for normal development. It is
expressed as 2 alternatively polyadenylated forms displaying
different relative abundance in various fetal and adult tissues.
The larger transcript is approximately 13.7 kb and is expressed
predominantly in adult and fetal brain whereas the smaller
transcript of approximately 10.3 kb is more widely expressed. The
genetic defect leading to Huntington's disease may not necessarily
eliminate transcription, but may confer a new property on the mRNA
or alter the function of the protein. One candidate is the
huntingtin-associated protein-1, highly expressed in brain, which
has increased affinity for huntingtin protein with expanded
polyglutamine repeats. This gene contains an upstream open reading
frame in the 5' UTR that inhibits expression of the huntingtin gene
product through translational repression. [provided by RefSeq, Jul
Sequence Note: This RefSeq was created from transcript and genomic
sequence data to make the sequence consistent with the reference
genome assembly except in the CAG repeat region. The reference
genome has a repeat region encoding 21 glutamines while the RefSeq
has a repeat region (nt 197-265) encoding 23. Neither repeat region
is associated with Huntington's Disease.
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.
regulatory uORF :: PMID: 12466534
Transcript exon combination :: L12392.1, AB016794.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
COMPLETENESS: full length.