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Aliases for HHAT Gene

Aliases for HHAT Gene

  • Hedgehog Acyltransferase 2 3 4 5
  • Melanoma Antigen Recognized By T-Cells 2 3 4
  • Skinny Hedgehog Protein 1 3 4
  • MART2 3 4
  • SKI1 3 4
  • Protein-Cysteine N-Palmitoyltransferase HHAT 3
  • EC 2.3.1.- 4
  • MART-2 4
  • Skn 3

External Ids for HHAT Gene

Previous GeneCards Identifiers for HHAT Gene

  • GC01P206890
  • GC01P208568
  • GC01P210501
  • GC01P181175

Summaries for HHAT Gene

Entrez Gene Summary for HHAT Gene

  • '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]

GeneCards Summary for HHAT Gene

HHAT (Hedgehog Acyltransferase) is a Protein Coding gene. Diseases associated with HHAT include Chondrodysplasia-Pseudohermaphroditism Syndrome and Thoracic Outlet Syndrome. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Signaling events mediated by the Hedgehog family. Gene Ontology (GO) annotations related to this gene include GTP binding and palmitoyltransferase activity. An important paralog of this gene is HHATL.

UniProtKB/Swiss-Prot for HHAT Gene

  • Catalyzes N-terminal palmitoylation of SHH; which is required for SHH signaling. May bind GTP.

Additional gene information for HHAT Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HHAT Gene

Genomics for HHAT Gene

GeneHancer (GH) Regulatory Elements for HHAT Gene

Promoters and enhancers for HHAT Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I210328 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 557.5 +0.7 694 1.8 HDGF ZNF133 SIN3A DMAP1 YY1 ZNF121 GLIS2 ZNF207 ZNF143 ATF7 HHAT SERTAD4-AS1 RCOR3 SERTAD4 PIR50724
GH01I211256 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11 +930.9 930897 5.1 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC RCOR3 LOC105372902 LINC00467 HHAT RPL21P28
GH01I210236 Enhancer 1.1 Ensembl ENCODE 11.2 -90.9 -90899 2.2 PKNOX1 ATF1 ZNF133 FEZF1 ZNF2 ZNF121 GLIS2 ZNF213 KLF7 ATF7 HHAT DIEXF SERTAD4-AS1 SERTAD4 GC01P210243
GH01I210342 Enhancer 1 Ensembl ENCODE 8.7 +15.3 15337 1.2 HDGF PKNOX1 SMAD1 BMI1 YBX1 ZNF2 ZNF335 ZNF366 ATF7 IKZF2 SERTAD4-AS1 TRAF3IP3 RCOR3 RNU5A-8P SERTAD4 HHAT PIR50724
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HHAT on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HHAT gene promoter:

Genomic Locations for HHAT Gene

Genomic Locations for HHAT Gene
348,047 bases
Plus strand

Genomic View for HHAT Gene

Genes around HHAT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HHAT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HHAT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HHAT Gene

Proteins for HHAT Gene

  • Protein details for HHAT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein-cysteine N-palmitoyltransferase HHAT
    Protein Accession:
    Secondary Accessions:
    • B7Z4D5
    • B7Z5I1
    • B7Z868
    • B7ZA75
    • D3DT91
    • F5H444
    • Q17RZ7
    • Q4G0K3
    • Q5CZ95
    • Q5TGI2
    • Q9NVH9
    • Q9Y3N8

    Protein attributes for HHAT Gene

    493 amino acids
    Molecular mass:
    57313 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for HHAT Gene

neXtProt entry for HHAT Gene

Post-translational modifications for HHAT Gene

No Post-translational modifications

No data available for DME Specific Peptides for HHAT Gene

Domains & Families for HHAT Gene

Gene Families for HHAT Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for HHAT Gene


Graphical View of Domain Structure for InterPro Entry



  • Belongs to the membrane-bound acyltransferase family. HHAT subfamily.
  • Belongs to the membrane-bound acyltransferase family. HHAT subfamily.
genes like me logo Genes that share domains with HHAT: view

Function for HHAT Gene

Molecular function for HHAT Gene

UniProtKB/Swiss-Prot Function:
Catalyzes N-terminal palmitoylation of SHH; which is required for SHH signaling. May bind GTP.

Enzyme Numbers (IUBMB) for HHAT Gene

Phenotypes From GWAS Catalog for HHAT Gene

Gene Ontology (GO) - Molecular Function for HHAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005525 GTP binding IEA --
GO:0008374 O-acyltransferase activity TAS --
GO:0016409 palmitoyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
genes like me logo Genes that share ontologies with HHAT: view
genes like me logo Genes that share phenotypes with HHAT: view

Human Phenotype Ontology for HHAT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HHAT Gene

MGI Knock Outs for HHAT:

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for HHAT Gene

Localization for HHAT Gene

Subcellular locations from UniProtKB/Swiss-Prot for HHAT Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HHAT gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
mitochondrion 2
peroxisome 2
extracellular 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HHAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with HHAT: view

Pathways & Interactions for HHAT Gene

genes like me logo Genes that share pathways with HHAT: view

Pathways by source for HHAT Gene

SIGNOR curated interactions for HHAT Gene


Gene Ontology (GO) - Biological Process for HHAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007224 smoothened signaling pathway IEA --
GO:0007275 multicellular organism development IEA --
GO:0018345 protein palmitoylation IEA --
GO:1903955 positive regulation of protein targeting to mitochondrion IMP 24270810
genes like me logo Genes that share ontologies with HHAT: view

Drugs & Compounds for HHAT Gene

(5) Drugs for HHAT Gene - From: ApexBio and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
GANT61 Pharma GLI antagonist 0
LY2940680 Pharma Hedgehog/SMO antagonist,inhibits Hh signaling 0
PF-5274857 Pharma Smo antagonist,potent and selective 0
SANT-1 Pharma Shh inhibitor,potent and cell-permeable, Inhibitor of hedgehog (Hh) signaling; antagonizes smoothened activity 0

(4) ApexBio Compounds for HHAT Gene

Compound Action Cas Number
GANT61 GLI antagonist 500579-04-4
LY2940680 Hedgehog/SMO antagonist,inhibits Hh signaling 1258861-20-9
PF-5274857 Smo antagonist,potent and selective 1373615-35-0
SANT-1 Shh inhibitor,potent and cell-permeable 304909-07-7
genes like me logo Genes that share compounds with HHAT: view

Drug Products

Transcripts for HHAT Gene

Unigene Clusters for HHAT Gene

Hedgehog acyltransferase:
Representative Sequences:

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HHAT Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b
SP1: - - - - -
SP2: - - -
SP4: - -

Relevant External Links for HHAT Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HHAT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HHAT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Blood (Hematopoietic System)
  • Heart (Cardiovascular System)
  • Limb (Muscoskeletal System)

Protein differential expression in normal tissues from HIPED for HHAT Gene

This gene is overexpressed in Retina (38.4) and Plasma (30.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HHAT Gene

Protein tissue co-expression partners for HHAT Gene

NURSA nuclear receptor signaling pathways regulating expression of HHAT Gene:


SOURCE GeneReport for Unigene cluster for HHAT Gene:


mRNA Expression by UniProt/SwissProt for HHAT Gene:

Tissue specificity: Ubiquitously expressed in normal tissues and cancer cell lines.

Evidence on tissue expression from TISSUES for HHAT Gene

  • Nervous system(4.4)
  • Lung(4.1)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HHAT Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • ovary
  • pelvis
  • penis
  • testicle
  • vagina
  • arm
  • digit
  • femur
  • fibula
  • finger
  • forearm
  • hand
  • humerus
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • ulna
  • upper limb
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with HHAT: view

Primer Products

No data available for mRNA differential expression in normal tissues for HHAT Gene

Orthologs for HHAT Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HHAT Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia HHAT 33 34
  • 99.32 (n)
(Canis familiaris)
Mammalia HHAT 33 34
  • 85.67 (n)
(Rattus norvegicus)
Mammalia Hhat 33
  • 84.34 (n)
(Mus musculus)
Mammalia Hhat 33 16 34
  • 83.74 (n)
(Bos Taurus)
Mammalia HHAT 33
  • 83.48 (n)
(Monodelphis domestica)
Mammalia HHAT 34
  • 74 (a)
(Ornithorhynchus anatinus)
Mammalia HHAT 34
  • 71 (a)
(Gallus gallus)
Aves HHAT 33 34
  • 65.99 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 66 (a)
-- 34
  • 61 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia hhat 33
  • 62.84 (n)
(Danio rerio)
Actinopterygii hhat 33 34
  • 57.81 (n)
fruit fly
(Drosophila melanogaster)
Insecta rasp 33 34
  • 46.29 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002602 33
  • 44.89 (n)
(Caenorhabditis elegans)
Secernentea hhat-2 33 34
  • 44.26 (n)
hhat-1 34
  • 21 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GUP1 34
  • 16 (a)
GUP2 34 36
  • 15 (a)
Species where no ortholog for HHAT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HHAT Gene

Gene Tree for HHAT (if available)
Gene Tree for HHAT (if available)

Paralogs for HHAT Gene

Paralogs for HHAT Gene

genes like me logo Genes that share paralogs with HHAT: view

Variants for HHAT Gene

Sequence variations from dbSNP and Humsavar for HHAT Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs147954610 A lung cancer cell line 210,623,629(+) A/G coding_sequence_variant, missense_variant
rs757163023 A melanoma cell line 210,623,623(+) G/A coding_sequence_variant, missense_variant
rs1000005042 -- 210,532,532(+) A/G intron_variant
rs1000005379 -- 210,417,756(+) A/C intron_variant
rs1000005654 -- 210,657,077(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for HHAT Gene

Variant ID Type Subtype PubMed ID
dgv570n100 CNV gain 25217958
dgv798n54 CNV loss 21841781
dgv799n54 CNV loss 21841781
dgv800n54 CNV loss 21841781
dgv98n67 CNV loss 20364138
esv1002583 CNV insertion 20482838
esv1006570 CNV deletion 20482838
esv1059701 CNV insertion 17803354
esv1079015 CNV insertion 17803354
esv1178918 CNV insertion 17803354
esv1205334 CNV deletion 17803354
esv1269016 CNV deletion 17803354
esv1365511 CNV insertion 17803354
esv1524987 CNV insertion 17803354
esv2193652 CNV deletion 18987734
esv22101 CNV gain+loss 19812545
esv2255563 CNV deletion 18987734
esv2421437 CNV deletion 20811451
esv2497060 CNV deletion 19546169
esv2669529 CNV deletion 23128226
esv2670285 CNV deletion 23128226
esv2671527 CNV deletion 23128226
esv2722273 CNV deletion 23290073
esv2722284 CNV deletion 23290073
esv2722295 CNV deletion 23290073
esv2722306 CNV deletion 23290073
esv2722317 CNV deletion 23290073
esv2722328 CNV deletion 23290073
esv2722339 CNV deletion 23290073
esv275540 CNV gain+loss 21479260
esv2758995 CNV loss 17122850
esv2764216 CNV loss 21179565
esv2862568 CNV duplication 24192839
esv3348452 CNV duplication 20981092
esv3353042 CNV duplication 20981092
esv3545933 CNV deletion 23714750
esv3575650 CNV gain 25503493
esv3575661 CNV gain 25503493
esv3575672 CNV gain 25503493
esv3578407 CNV loss 25503493
esv3578408 CNV loss 25503493
esv3578409 CNV loss 25503493
esv3578410 CNV loss 25503493
esv3588718 CNV loss 21293372
esv3588719 CNV loss 21293372
esv3588720 CNV loss 21293372
esv3588721 CNV loss 21293372
esv3588722 CNV loss 21293372
esv3935 CNV loss 18987735
esv4955 CNV loss 18987735
esv6795 CNV loss 19470904
esv988198 CNV deletion 20482838
esv989821 CNV deletion 20482838
nsv1001747 CNV loss 25217958
nsv1011702 CNV gain 25217958
nsv1113215 CNV deletion 24896259
nsv1120204 CNV tandem duplication 24896259
nsv1121447 CNV deletion 24896259
nsv1122445 CNV deletion 24896259
nsv435854 CNV deletion 17901297
nsv4376 CNV deletion 18451855
nsv4387 CNV insertion 18451855
nsv441734 CNV loss 18776908
nsv473703 CNV novel sequence insertion 20440878
nsv473759 CNV novel sequence insertion 20440878
nsv473885 CNV novel sequence insertion 20440878
nsv475447 CNV novel sequence insertion 20440878
nsv479407 CNV novel sequence insertion 20440878
nsv480053 CNV novel sequence insertion 20440878
nsv480212 CNV novel sequence insertion 20440878
nsv509624 CNV insertion 20534489
nsv514040 CNV loss 21397061
nsv515857 CNV loss 19592680
nsv522480 CNV gain 19592680
nsv523712 CNV loss 19592680
nsv527699 CNV loss 19592680
nsv549106 CNV loss 21841781
nsv549117 CNV loss 21841781
nsv549122 CNV loss 21841781
nsv818811 CNV loss 17921354
nsv819787 CNV gain 19587683
nsv820875 CNV deletion 20802225
nsv8769 CNV gain 18304495
nsv955089 CNV deletion 24416366
nsv999294 CNV loss 25217958
nsv999833 CNV loss 25217958

Variation tolerance for HHAT Gene

Residual Variation Intolerance Score: 76% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.75; 89.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HHAT Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HHAT Gene

Disorders for HHAT Gene

MalaCards: The human disease database

(5) MalaCards diseases for HHAT Gene - From: HGMD, Orphanet, and DISEASES

Disorder Aliases PubMed IDs
chondrodysplasia-pseudohermaphroditism syndrome
  • chondrodysplasia-disorder of sex development syndrome
thoracic outlet syndrome
  • tos - thoracic outlet syndrome
  • ancylostoma duodenale infection
agnathia-otocephaly complex
  • agotc
opportunistic mycosis
  • opportunistic mycoses
- elite association - COSMIC cancer census association via MalaCards
Search HHAT in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HHAT

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HHAT: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HHAT Gene

Publications for HHAT Gene

  1. Isolation of a new melanoma antigen, MART-2, containing a mutated epitope recognized by autologous tumor-infiltrating T lymphocytes. (PMID: 11160356) Kawakami Y … Rosenberg S (Journal of immunology (Baltimore, Md. : 1950) 2001) 2 3 4 58
  2. Membrane topology of hedgehog acyltransferase. (PMID: 25488661) Matevossian A … Resh MD (The Journal of biological chemistry 2015) 3 4 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for HHAT Gene

Sources for HHAT Gene

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