Human Gene HHAT (ENST00000261458.8_7) from GENCODE V47lift37
  Description: hedgehog acyltransferase, transcript variant 1 (from RefSeq NM_018194.6)
Gencode Transcript: ENST00000261458.8_7
Gencode Gene: ENSG00000054392.13_11
Transcript (Including UTRs)
   Position: hg19 chr1:210,502,246-210,849,632 Size: 347,387 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr1:210,522,320-210,847,721 Size: 325,402 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:210,502,246-210,849,632)mRNA (may differ from genome)Protein (493 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HHAT_HUMAN
DESCRIPTION: RecName: Full=Protein-cysteine N-palmitoyltransferase HHAT; EC=2.3.1.-; AltName: Full=Hedgehog acyltransferase; AltName: Full=Melanoma antigen recognized by T-cells 2; Short=MART-2; AltName: Full=Skinny hedgehog protein 1;
FUNCTION: Catalyzes N-terminal palmitoylation of SHH; which is required for SHH signaling (By similarity). May bind GTP.
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity).
TISSUE SPECIFICITY: Ubiquitously expressed in normal tissues and cancer cell lines.
SIMILARITY: Belongs to the membrane-bound acyltransferase family. HHAT subfamily.

-  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


-  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 -122.10246-0.496 Picture PostScript Text
3' UTR -542.701911-0.284 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
  InterPro Domains: Graphical view of domain structure
IPR004299 - MBOAT_fam

Pfam Domains:
PF03062 - MBOAT, membrane-bound O-acyltransferase family

ModBase Predicted Comparative 3D Structure on Q5VTY9
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 orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005525 GTP binding
GO:0008374 O-acyltransferase activity
GO:0016409 palmitoyltransferase activity
GO:0016740 transferase activity
GO:0016746 transferase activity, transferring acyl groups

Biological Process:
GO:0007224 smoothened signaling pathway
GO:0007275 multicellular organism development
GO:0018345 protein palmitoylation

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  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.
JD045466 - Sequence 26490 from Patent EP1572962.
JD183030 - Sequence 164054 from Patent EP1572962.
JD457923 - Sequence 438947 from Patent EP1572962.
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: B7Z4D5, B7Z5I1, B7Z868, B7ZA75, D3DT91, ENST00000261458.1, ENST00000261458.2, ENST00000261458.3, ENST00000261458.4, ENST00000261458.5, ENST00000261458.6, ENST00000261458.7, F5H444, HHAT_HUMAN, MART2, NM_018194, Q17RZ7, Q4G0K3, Q5CZ95, Q5TGI2, Q5VTY9, Q9NVH9, Q9Y3N8, SKI1, uc317gqe.1, uc317gqe.2
UCSC ID: ENST00000261458.8_7
RefSeq Accession: NM_018194.6
Protein: Q5VTY9 (aka HHAT_HUMAN)

-  Gene Model Information
  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.