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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 Signaling by Hedgehog and Signaling by GPCR. 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 CIViC summary , 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

Enhancers for HHAT Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G210236 1.2 Ensembl ENCODE 11.2 -90.9 -90900 2.2 PKNOX1 ATF1 ZNF133 SIN3A FEZF1 ZNF2 ZNF121 GLIS2 KLF7 TSHZ1 HHAT SERTAD4-AS1 GC01P210243
GH01G211256 1.2 ENCODE 11 +930.9 930897 5.1 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 LINC00467 HHAT RCOR3 LOC105372902
GH01G210331 1.2 FANTOM5 ENCODE 10 +4.4 4424 1.7 PKNOX1 TBL1XR1 SCRT2 FOS ETV6 RELB IKZF2 CREM SP3 CBFB SERTAD4-AS1 HHAT SERTAD4 PIR50724
GH01G210342 1.2 Ensembl ENCODE 8.7 +15.3 15337 1.2 HDGF PKNOX1 BMI1 YBX1 ZNF2 ZNF366 RELB IKZF2 EGR2 REST SERTAD4-AS1 RNU5A-8P SERTAD4 HHAT PIR50724
GH01G210328 1 ENCODE 7.4 +0.7 694 1.8 HDGF WRNIP1 ZNF133 SIN3A DMAP1 YY1 ZNF121 GLIS2 ELK1 ZNF143 SERTAD4-AS1 RCOR3 SERTAD4 HHAT PIR50724
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HHAT on UCSC Golden Path with GeneCards custom track

Promoters for HHAT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000019473 848 1401 HDGF WRNIP1 ZNF133 SIN3A DMAP1 YY1 ZNF121 GLIS2 ELK1 ZNF143

Genomic Location for HHAT Gene

Chromosome:
1
Start:
210,328,252 bp from pter
End:
210,676,298 bp from pter
Size:
348,047 bases
Orientation:
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:
    Q5VTY9-HHAT_HUMAN
    Recommended name:
    Protein-cysteine N-palmitoyltransferase HHAT
    Protein Accession:
    Q5VTY9
    Secondary Accessions:
    • B7Z4D5
    • B7Z5I1
    • B7Z868
    • B7ZA75
    • D3DT91
    • F5H444
    • Q17RZ7
    • Q4G0K3
    • Q5CZ95
    • Q5TGI2
    • Q9NVH9
    • Q9Y3N8

    Protein attributes for HHAT Gene

    Size:
    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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q5VTY9

UniProtKB/Swiss-Prot:

HHAT_HUMAN :
  • Belongs to the membrane-bound acyltransferase family. HHAT subfamily.
Family:
  • 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: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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry 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

COMPARTMENTS
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

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

Activates:

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, 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, 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

Transcripts for HHAT Gene

Unigene Clusters for HHAT Gene

Hedgehog acyltransferase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry 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: - - -
SP3:
SP4: - -

Relevant External Links for HHAT Gene

GeneLoc Exon Structure for
HHAT
ECgene alternative splicing isoforms for
HHAT

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:

HHAT

SOURCE GeneReport for Unigene cluster for HHAT Gene:

Hs.58650

mRNA Expression by UniProt/SwissProt for HHAT Gene:

Q5VTY9-HHAT_HUMAN
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
Systems:
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • ovary
  • pelvis
  • penis
  • testicle
  • vagina
Limb:
  • arm
  • digit
  • femur
  • fibula
  • finger
  • forearm
  • hand
  • humerus
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • ulna
  • upper limb
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia HHAT 34 35
  • 99.32 (n)
dog
(Canis familiaris)
Mammalia HHAT 34 35
  • 85.67 (n)
rat
(Rattus norvegicus)
Mammalia Hhat 34
  • 84.34 (n)
mouse
(Mus musculus)
Mammalia Hhat 34 16 35
  • 83.74 (n)
cow
(Bos Taurus)
Mammalia HHAT 34
  • 83.48 (n)
oppossum
(Monodelphis domestica)
Mammalia HHAT 35
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HHAT 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves HHAT 34 35
  • 65.99 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 66 (a)
OneToMany
-- 35
  • 61 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia hhat 34
  • 62.84 (n)
zebrafish
(Danio rerio)
Actinopterygii hhat 34 35
  • 57.81 (n)
fruit fly
(Drosophila melanogaster)
Insecta rasp 34 35
  • 46.29 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002602 34
  • 44.89 (n)
worm
(Caenorhabditis elegans)
Secernentea hhat-2 34 35
  • 44.26 (n)
hhat-1 35
  • 21 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GUP1 35
  • 16 (a)
ManyToMany
GUP2 35 37
  • 15 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for HHAT (if available)
TreeFam:
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
rs147954610 A lung cancer cell line 210,623,629(+) GGGCA(A/G)TGAGG reference, missense
rs757163023 A melanoma cell line 210,623,623(+) TCTTG(A/G)GGGCA reference, missense
rs1000005042 -- 210,532,532(+) GCCCT(A/G)AACTT intron-variant
rs1000005379 -- 210,417,756(+) GCCTC(A/C)GACAT intron-variant
rs1000005654 -- 210,657,077(+) TGTGC(C/T)CCAGT 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)

Relevant External Links for HHAT Gene

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

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, DISEASES, and GeneCards

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

Relevant External Links for HHAT

Genetic Association Database (GAD)
HHAT
Human Genome Epidemiology (HuGE) Navigator
HHAT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HHAT
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 3 4 64
  2. Membrane topology of hedgehog acyltransferase. (PMID: 25488661) Matevossian A. … Resh M.D. (J. Biol. Chem. 2015) 3 4 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for HHAT Gene

Sources for HHAT Gene

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