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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
  • 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 Syndrome and Thoracic Outlet Syndrome. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 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

Enhancers for HHAT Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around HHAT on UCSC Golden Path with GeneCards custom track

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

Proteomics data for HHAT Gene at MOPED

Post-translational modifications for HHAT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for HHAT
  • 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

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:0016740 transferase activity 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

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
Jensen Localization Image for HHAT Gene COMPARTMENTS Subcellular localization image for HHAT gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
mitochondrion 2
peroxisome 2
cytosol 1
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components for HHAT Gene

Pathways & Interactions for HHAT Gene

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

Pathways by source for HHAT Gene

Interacting Proteins 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:0008152 metabolic process 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:

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 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

Q5VTY9-HHAT_HUMAN
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

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
cow
(Bos Taurus)
Mammalia HHAT 35
  • 83.48 (n)
  • 82.68 (a)
dog
(Canis familiaris)
Mammalia HHAT 35
  • 85.67 (n)
  • 82.76 (a)
HHAT 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hhat 35
  • 83.74 (n)
  • 83.94 (a)
Hhat 16
Hhat 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HHAT 35
  • 99.32 (n)
  • 99.59 (a)
HHAT 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hhat 35
  • 84.34 (n)
  • 84.43 (a)
oppossum
(Monodelphis domestica)
Mammalia HHAT 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HHAT 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves HHAT 35
  • 65.99 (n)
  • 64.97 (a)
HHAT 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 61 (a)
OneToMany
-- 36
  • 66 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia hhat 35
  • 62.84 (n)
  • 61.68 (a)
zebrafish
(Danio rerio)
Actinopterygii hhat 35
  • 57.81 (n)
  • 49.58 (a)
hhat 36
  • 44 (a)
OneToOne
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)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea hhat-2 35
  • 44.26 (n)
  • 31.56 (a)
hhat-1 36
  • 21 (a)
OneToMany
hhat-2 36
  • 19 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GUP1 36
  • 16 (a)
ManyToMany
GUP2 36
  • 15 (a)
ManyToMany
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

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
rs2294851 - 210,404,540(-) TGAAG(C/T)TGGTG intron-variant, reference, missense
VAR_024744 A melanoma cell line
VAR_024745 A lung cancer cell line
rs2228898 - 210,404,489(+) AAACG(A/G)GTACT intron-variant, reference, missense
rs34228541 - 210,404,557(+) AGCTC(C/T)GCTGG intron-variant, reference, missense

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: 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

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

Disorders for HHAT Gene

MalaCards: The human disease database

(6) MalaCards diseases for HHAT Gene - From: Orphanet and DISEASES

Disorder Aliases PubMed IDs
chondrodysplasia-disorder of sex development syndrome
  • chondrodysplasia-pseudohermaphroditism syndrome
thoracic outlet syndrome
  • tos - thoracic outlet syndrome
ancylostomiasis
  • ancylostomosis
ovarian mucinous adenocarcinoma
  • mucinous carcinoma of ovary
agnathia-otocephaly complex
  • agnathia-holoprosencephaly-situs inversus syndrome
- 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 67
  2. Membrane topology of hedgehog acyltransferase. (PMID: 25488661) Matevossian A. … Resh M.D. (J. Biol. Chem. 2015) 3
  3. Membrane bound O-acyltransferases and their inhibitors. (PMID: 25849925) Masumoto N. … Tate E.W. (Biochem. Soc. Trans. 2015) 3
  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) 3
  5. The hedgehog processing pathway is required for NSCLC growth and survival. (PMID: 22733134) Rodriguez-Blanco J. … Robbins D.J. (Oncogene 2013) 3

Products for HHAT Gene

Sources for HHAT Gene

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