Human Gene HHAT (uc010psu.2)
  Description: Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 4, mRNA.
RefSeq Summary (NM_001170588): 'Skinny hedgehog' (SKI1) encodes an enzyme that acts within the secretory pathway to catalyze amino-terminal palmitoylation of 'hedgehog' (see MIM 600725).[supplied by OMIM, Jul 2002].
Transcript (Including UTRs)
   Position: hg19 chr1:210,516,626-210,849,638 Size: 333,013 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chr1:210,522,320-210,847,721 Size: 325,402 Coding Exon Count: 10 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:210,516,626-210,849,638)mRNA (may differ from genome)Protein (428 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMalacardsMGIOMIM
PubMedReactomeUniProtKBBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): HHAT
CDC HuGE Published Literature: HHAT
Positive Disease Associations: Cholesterol , Erythrocyte Indices
Related Studies:
  1. Cholesterol
    , , . [PubMed 0]
  2. Erythrocyte Indices
    Qiong Yang et al. BMC medical genetics 2007, Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903294]
    Using genome-wide association methodology, we have successfully identified a SNP in complete LD with a sequence variant previously shown to be strongly associated with factor VII, providing proof of principle for this approach. Further study of additional strongly associated SNPs and linked regions may identify novel variants that influence the inter-individual variability in hemostatic factors and hematological phenotypes.

-  MalaCards Disease Associations
  MalaCards Gene Search: HHAT
Diseases sorted by gene-association score: chondrodysplasia-pseudohermaphroditism syndrome* (350), thoracic outlet syndrome (15), ancylostomiasis (9), agnathia-otocephaly complex (5), opportunistic mycosis (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.03 RPKM in Adrenal Gland
Total median expression: 65.71 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -84.70289-0.293 Picture PostScript Text
3' UTR -569.561917-0.297 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF03062 - MBOAT, membrane-bound O-acyltransferase family

ModBase Predicted Comparative 3D Structure on Q5VTY9-5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologGenome BrowserNo orthologGenome Browser
Gene Details  Gene Details Gene Details
Gene Sorter  Gene Sorter Gene Sorter
   FlyBase SGD
   Protein Sequence Protein Sequence
   Alignment Alignment

-  Descriptions from all associated GenBank mRNAs
  AK297193 - Homo sapiens cDNA FLJ59340 complete cds, highly similar to Protein-cysteine N-palmitoyltransferase HHAT (EC 2.3.1.-).
AK299200 - Homo sapiens cDNA FLJ60828 complete cds, highly similar to Protein-cysteine N-palmitoyltransferase HHAT(EC 2.3.1.-).
AK316190 - Homo sapiens cDNA, FLJ79089 complete cds, highly similar to Protein-cysteine N-palmitoyltransferase HHAT(EC 2.3.1.-).
AK295130 - Homo sapiens cDNA FLJ53989 complete cds, highly similar to Protein-cysteine N-palmitoyltransferase HHAT (EC 2.3.1.-).
AK302955 - Homo sapiens cDNA FLJ58819 complete cds, highly similar to Protein-cysteine N-palmitoyltransferase HHAT (EC 2.3.1.-).
AK298991 - Homo sapiens cDNA FLJ54986 complete cds, highly similar to Protein-cysteine N-palmitoyltransferase HHAT (EC 2.3.1.-).
AK001586 - Homo sapiens cDNA FLJ10724 fis, clone NT2RP3001176.
BC039071 - Homo sapiens hedgehog acyltransferase, mRNA (cDNA clone MGC:34300 IMAGE:5177926), complete cds.
BC051191 - Homo sapiens hedgehog acyltransferase, mRNA (cDNA clone IMAGE:5296856), containing frame-shift errors.
AK316524 - Homo sapiens cDNA, FLJ79423 complete cds, highly similar to Protein-cysteine N-palmitoyltransferase HHAT(EC 2.3.1.-).
BC117130 - Homo sapiens hedgehog acyltransferase, mRNA (cDNA clone MGC:150739 IMAGE:40125681), complete cds.
HQ258265 - Synthetic construct Homo sapiens clone IMAGE:100072574 hedgehog acyltransferase (HHAT), transcript variant 2 (HHAT) gene, encodes complete protein.
KJ899178 - Synthetic construct Homo sapiens clone ccsbBroadEn_08572 HHAT gene, encodes complete protein.
CR936628 - Homo sapiens mRNA; cDNA DKFZp781J10155 (from clone DKFZp781J10155).
AK092186 - Homo sapiens cDNA FLJ34867 fis, clone NT2NE2014176, highly similar to Protein-cysteine N-palmitoyltransferase HHAT (EC 2.3.1.-).
AL049848 - Novel human gene mapping to chomosome 1.
JD240335 - Sequence 221359 from Patent EP1572962.
JD273411 - Sequence 254435 from Patent EP1572962.
JD410750 - Sequence 391774 from Patent EP1572962.
JD049986 - Sequence 31010 from Patent EP1572962.
JD393842 - Sequence 374866 from Patent EP1572962.
JD110939 - Sequence 91963 from Patent EP1572962.
JD352690 - Sequence 333714 from Patent EP1572962.
JD378454 - Sequence 359478 from Patent EP1572962.
JD104585 - Sequence 85609 from Patent EP1572962.
JD390757 - Sequence 371781 from Patent EP1572962.
JD454755 - Sequence 435779 from Patent EP1572962.
JD376563 - Sequence 357587 from Patent EP1572962.
JD309604 - Sequence 290628 from Patent EP1572962.
JD053874 - Sequence 34898 from Patent EP1572962.
JD080600 - Sequence 61624 from Patent EP1572962.
JD303487 - Sequence 284511 from Patent EP1572962.
JD090258 - Sequence 71282 from Patent EP1572962.
JD262840 - Sequence 243864 from Patent EP1572962.
JD182012 - Sequence 163036 from Patent EP1572962.
JD187268 - Sequence 168292 from Patent EP1572962.
JD236338 - Sequence 217362 from Patent EP1572962.
JD552083 - Sequence 533107 from Patent EP1572962.
JD472759 - Sequence 453783 from Patent EP1572962.
JD340557 - Sequence 321581 from Patent EP1572962.
JD048772 - Sequence 29796 from Patent EP1572962.
JD310604 - Sequence 291628 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q5VTY9 (Reactome details) participates in the following event(s):

R-HSA-5358343 HHAT palmitoylates Hh N-terminal fragment
R-HSA-5358346 Hedgehog ligand biogenesis
R-HSA-5358351 Signaling by Hedgehog
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: AK316524, MART2, NM_001170588, NP_001164059, Q5VTY9-5, SKI1
UCSC ID: uc010psu.2
RefSeq Accession: NM_001170588
Protein: Q5VTY9-5, splice isoform of Q5VTY9 CCDS: CCDS53472.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK316524.1
exon count: 11CDS single in 3' UTR: no RNA size: 1822
ORF size: 1287CDS single in intron: no Alignment % ID: 99.89
txCdsPredict score: 2047.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.