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Aliases for HHAT Gene

Aliases for HHAT Gene

  • Hedgehog Acyltransferase 2 3 4
  • Melanoma Antigen Recognized By T-Cells 2 3 4
  • Skinny Hedgehog Protein 1 3 4
  • MART2 3 4
  • SKI1 3 4
  • Melanoma Antigen Recognized By T Cells 2 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 - disorder of sex development and thoracic outlet syndrome. Among its related pathways are Signaling by GPCR and Signaling by Hedgehog. 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.

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

Genomics for HHAT Gene

Regulatory Elements for HHAT Gene

Genomic Location for HHAT Gene

210,328,252 bp from pter
210,676,298 bp from pter
348,047 bases
Plus strand

Genomic View for HHAT Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for HHAT Gene at MOPED

Post-translational modifications for HHAT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for HHAT

No data available for DME Specific Peptides for HHAT Gene

Domains & Families for HHAT Gene

Gene Families for HHAT Gene

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

Gene Ontology (GO) - Molecular Function for HHAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005525 GTP binding IEA --
GO:0016409 palmitoyltransferase activity IEA --
GO:0016740 transferase activity --
genes like me logo Genes that share ontologies with HHAT: view
genes like me logo Genes that share phenotypes with HHAT: view

Animal Models for HHAT Gene

MGI Knock Outs for HHAT:

Animal Model 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

Jensen Localization Image for HHAT Gene COMPARTMENTS Subcellular localization image for HHAT gene
Compartment Confidence
endoplasmic reticulum 4
cytosol 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HHAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins 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 organismal development IEA --
GO:0008152 metabolic process --
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, GLI antagonist; inhibits Hedgehog (Hh) signaling 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 0
genes like me logo Genes that share compounds with HHAT: view

Transcripts for HHAT Gene

Unigene Clusters for HHAT Gene

Hedgehog acyltransferase:
Representative Sequences:

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 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

SOURCE GeneReport for Unigene cluster for HHAT Gene Hs.58650

mRNA Expression by UniProt/SwissProt for HHAT Gene

Tissue specificity: Ubiquitously expressed in normal tissues and cancer cell lines.
genes like me logo Genes that share expression patterns with HHAT: view

Protein tissue co-expression partners for HHAT Gene

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay 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
(Bos Taurus)
Mammalia HHAT 35
  • 83.48 (n)
  • 82.68 (a)
(Canis familiaris)
Mammalia HHAT 35
  • 85.67 (n)
  • 82.76 (a)
  • 78 (a)
(Mus musculus)
Mammalia Hhat 35
  • 83.74 (n)
  • 83.94 (a)
Hhat 16
Hhat 36
  • 79 (a)
(Pan troglodytes)
Mammalia HHAT 35
  • 99.32 (n)
  • 99.59 (a)
  • 95 (a)
(Rattus norvegicus)
Mammalia Hhat 35
  • 84.34 (n)
  • 84.43 (a)
(Monodelphis domestica)
Mammalia HHAT 36
  • 74 (a)
(Ornithorhynchus anatinus)
Mammalia HHAT 36
  • 71 (a)
(Gallus gallus)
Aves HHAT 35
  • 65.99 (n)
  • 64.97 (a)
  • 60 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 61 (a)
-- 36
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia hhat 35
  • 62.84 (n)
  • 61.68 (a)
(Danio rerio)
Actinopterygii hhat 35
  • 57.81 (n)
  • 49.58 (a)
hhat 36
  • 44 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002602 35
  • 44.89 (n)
  • 30.43 (a)
fruit fly
(Drosophila melanogaster)
Insecta rasp 35
  • 46.29 (n)
  • 30.39 (a)
rasp 36
  • 21 (a)
(Caenorhabditis elegans)
Secernentea hhat-2 35
  • 44.26 (n)
  • 31.56 (a)
hhat-1 36
  • 21 (a)
hhat-2 36
  • 19 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GUP1 36
  • 16 (a)
GUP2 36
  • 15 (a)
GUP2 38
Species with no ortholog for HHAT:
  • 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 Sequence Context AA Info Type MAF
rs582412 -- 210,345,476(+) taacc(C/G)accac intron-variant
rs589027 -- 210,332,382(+) tcaca(A/C)aaaaa intron-variant
rs610446 -- 210,345,085(+) tttct(A/G)ccata intron-variant
rs624600 -- 210,331,560(+) aatgg(A/G)tctag intron-variant
rs638981 -- 210,345,484(+) cacca(C/T)cacaa intron-variant

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

Variant ID Type Subtype PubMed ID
nsv8769 CNV Gain 18304495
esv2722273 CNV Deletion 23290073
dgv177e1 CNV Complex 17122850
esv2722284 CNV Deletion 23290073
esv2671527 CNV Deletion 23128226
nsv515857 CNV Loss 19592680
nsv818811 CNV Loss 17921354
nsv441734 CNV CNV 18776908
esv2421437 CNV Deletion 20811451
nsv514040 CNV Loss 21397061
essv14669 CNV CNV 17122850
nsv4376 CNV Loss 18451855
esv2497060 CNV Deletion 19546169
esv2722295 CNV Deletion 23290073
esv2255563 CNV Deletion 18987734
esv989821 CNV Deletion 20482838
esv2722306 CNV Deletion 23290073
esv2722317 CNV Deletion 23290073
esv1269016 CNV Deletion 17803354
esv275540 CNV Gain+Loss 21479260
nsv873147 CNV Gain 21882294
nsv873148 CNV Gain 21882294
esv2722328 CNV Deletion 23290073
esv3935 CNV Deletion 18987735
esv2193652 CNV Deletion 18987734
esv2669529 CNV Deletion 23128226
esv1006570 CNV Deletion 20482838
esv1205334 CNV Deletion 17803354
esv988198 CNV Deletion 20482838
nsv819787 CNV Gain 19587683
nsv435854 CNV Deletion 17901297
esv4955 CNV Deletion 18987735
dgv98n67 CNV Loss 20364138
nsv820875 CNV Deletion 20802225
esv2722339 CNV Deletion 23290073
esv2670285 CNV Deletion 23128226
esv6795 CNV Loss 19470904
esv22101 CNV Gain+Loss 19812545
nsv873149 CNV Gain 21882294
nsv522480 CNV Gain 19592680
nsv523712 CNV Loss 19592680
nsv4387 CNV Insertion 18451855
nsv873150 CNV Gain 21882294
nsv509624 CNV Insertion 20534489
nsv873151 CNV Gain 21882294
nsv873152 CNV Loss 21882294
esv1178918 CNV Insertion 17803354
esv1059701 CNV Insertion 17803354
esv1079015 CNV Insertion 17803354
esv1365511 CNV Insertion 17803354
esv1524987 CNV Insertion 17803354
esv1002583 CNV Insertion 20482838
nsv527699 CNV Loss 19592680

Variation tolerance for HHAT Gene

Residual Variation Intolerance Score: 75.95% 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)

Relevant External Links for HHAT Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

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: Orphanet and DISEASES

Disorder Aliases PubMed IDs
chondrodysplasia - disorder of sex development
  • chondrodysplasia - pseudohermaphroditism
thoracic outlet syndrome
  • tos - thoracic outlet syndrome
  • ancylostomosis
agnathia-otocephaly complex
  • dysgnathia complex agnathia-holoprosencephaly
opportunistic mycosis
  • opportunistic mycoses
- elite association
Search HHAT in MalaCards View complete list of genes associated with diseases

Relevant External Links for HHAT

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) 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. (J. Immunol. 2001) 2 67
  2. Membrane topology of hedgehog acyltransferase. (PMID: 25488661) Matevossian A. … Resh M.D. (J. Biol. Chem. 2015) 67
  3. Topological analysis of Hedgehog acyltransferase, a multipalmitoylated transmembrane protein. (PMID: 25505265) Konitsiotis A.D. … Magee A.I. (J. Biol. Chem. 2015) 67
  4. Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling. (PMID: 24784881) Callier P. … Nef S. (PLoS Genet. 2014) 67
  5. Whole-genome-wide association study in the Bulgarian population reveals HHAT as schizophrenia susceptibility gene. (PMID: 23142968) Betcheva E.T. … Nakamura Y. (Psychiatr. Genet. 2013) 67

Products for HHAT Gene

Sources for HHAT Gene

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