'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] See more...

Aliases for HHAT Gene

Aliases for HHAT Gene

  • Hedgehog Acyltransferase 2 3 4 5
  • Protein-Cysteine N-Palmitoyltransferase HHAT 2 3 4
  • MART2 2 3 4
  • Melanoma Antigen Recognized By T-Cells 2 3 4
  • Skinny Hedgehog Protein 1 3 4
  • MART-2 2 4
  • SKI1 3 4
  • Skn 2 3
  • EC 2.3.1.- 4
  • FLJ10724 2
  • NNMS 3
  • HHAT 5
  • Rasp 2
  • GUP2 2
  • Ski 2
  • Sit 2

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 Nivelon-Nivelon-Mabille Syndrome and Ancylostomiasis. Among its related pathways are Signaling by GPCR and Notch Signaling Pathway (sino). 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 Summary 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 , Rfam classification and piRNA Summary for HHAT Gene

Genomics for HHAT Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HHAT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J210328 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 258.3 +1.2 1156 2.3 ZNF207 ZNF10 JUND ZSCAN16 YY1 SIN3A ZNF341 KMT2B GABPA KLF9 HHAT RCOR3 SERTAD4-AS1 SERTAD4 RF00017-407 ENSG00000284299
GH01J210369 Promoter/Enhancer 0.7 EPDnew Ensembl 250.3 +41.7 41728 1.2 ZIC2 ZNF664 USF1 HHAT SERTAD4 SERTAD4-AS1 ENSG00000287354 RNU5A-8P RF00020-002 ENSG00000284299
GH01J210502 Promoter 0.3 EPDnew 250.1 +175.0 175043 0.1 HSALNG0010255 HHAT HSALNG0010253 ENSG00000284299
GH01J211256 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 11 +931.3 931338 5.2 BCLAF1 SP1 ZNF207 MYC IKZF1 NCOR1 ZNF600 SSRP1 ZNF580 ZNF592 RCOR3 HSALNG0010276 LOC105372902 lnc-KCNH1-2 DTL LINC00467 HHAT RPL21P28 TRAF5
GH01J210236 Promoter/Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas 11.2 -90.6 -90617 2.4 ZNF600 ZNF580 ATF2 FEZF1 ZNF639 ZNF341 KLF7 ZNF610 SP2 ZNF843 HHAT UTP25 SERTAD4 lnc-SERTAD4-1 HSALNG0010243
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HHAT on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HHAT

Top Transcription factor binding sites by QIAGEN in the HHAT gene promoter:
  • ATF-2
  • HOXA3
  • MEF-2A
  • POU6F1 (c2)
  • STAT5A

Genomic Locations for HHAT Gene

Latest Assembly
chr1:210,327,873-210,676,298
(GRCh38/hg38)
Size:
348,426 bases
Orientation:
Plus strand

Previous Assembly
chr1:210,501,596-210,849,632
(GRCh37/hg19 by Entrez Gene)
Size:
348,037 bases
Orientation:
Plus strand

chr1:210,501,596-210,849,638
(GRCh37/hg19 by Ensembl)
Size:
348,043 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr1(PATCHES):107,994-459,389 (+)

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

    Three dimensional structures from OCA and Proteopedia for HHAT Gene

    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

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

Protein Domains for HHAT Gene

InterPro:

Suggested Antigen Peptide Sequences for HHAT Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ34867 fis, clone NT2NE2014176, highly similar to Protein-cysteine N-palmitoyltransferase HHAT (EC 2.3.1.-) (B1AK61_HUMAN)
  • cDNA FLJ53989, highly similar to Protein-cysteine N-palmitoyltransferase HHAT (EC 2.3.1.-) (B7Z2U8_HUMAN)
  • cDNA FLJ59340, highly similar to Protein-cysteine N-palmitoyltransferase HHAT (EC 2.3.1.-) (B7Z4D5_HUMAN)
  • cDNA, FLJ79423, highly similar to Protein-cysteine N-palmitoyltransferase HHAT(EC 2.3.1.-) (B7Z5I1_HUMAN)
  • Skinny hedgehog protein 1 (HHAT_HUMAN)

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

Phenotypes From GWAS Catalog for HHAT Gene

Gene Ontology (GO) - Molecular Function for HHAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 32296183
GO:0005525 GTP binding IEA --
GO:0008374 O-acyltransferase activity TAS --
GO:0016409 palmitoyltransferase activity IEA,IBA 21873635
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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HHAT

Clone products for research

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 4
plasma membrane 3
extracellular 2
mitochondrion 2
peroxisome 2
nucleus 2
cytosol 2
cytoskeleton 1
endosome 1
lysosome 1
golgi apparatus 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 IBA 21873635
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

1 Sino Biological pathway for HHAT Gene
1 BioSystems pathway for HHAT Gene
1 KEGG pathway 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,IBA 21873635
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 for research

Transcripts for HHAT Gene

mRNA/cDNA for HHAT Gene

6 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HHAT

Clone products for research

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

Expression for HHAT Gene

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



Protein tissue co-expression partners for HHAT Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.3)
  • Kidney(2.1)
  • Liver(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
Regions:
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 for research

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 29 30
  • 99.32 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HHAT 29 30
  • 85.67 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hhat 29
  • 84.34 (n)
Mouse
(Mus musculus)
Mammalia Hhat 29 16 30
  • 83.74 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HHAT 29
  • 83.48 (n)
Oppossum
(Monodelphis domestica)
Mammalia HHAT 30
  • 74 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia HHAT 30
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HHAT 29 30
  • 65.99 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 66 (a)
OneToMany
-- 30
  • 61 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hhat 29
  • 62.84 (n)
Zebrafish
(Danio rerio)
Actinopterygii hhat 29 30
  • 57.81 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta rasp 29 30
  • 46.29 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002602 29
  • 44.89 (n)
Worm
(Caenorhabditis elegans)
Secernentea hhat-2 29 30
  • 44.26 (n)
OneToMany
hhat-1 30
  • 21 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GUP1 30
  • 16 (a)
ManyToMany
GUP2 30 32 32
  • 15 (a)
ManyToMany
Species where no ortholog for HHAT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for HHAT: view image
Alliance of Genome Resources:
Additional Orthologs for HHAT

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HHAT Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
987946 Pathogenic: Chondrodysplasia-pseudohermaphroditism syndrome 210,464,508(+) G/T
NM_018194.6(HHAT):c.860G>T (p.Gly287Val)
MISSENSE
987947 Pathogenic: Chondrodysplasia-pseudohermaphroditism syndrome 210,418,239(+) T/C
NM_018194.6(HHAT):c.770T>C (p.Leu257Pro)
MISSENSE
rs1340611668 Likely Pathogenic: Inborn genetic diseases 210,348,976(+) A/T
NM_018194.6(HHAT):c.1A>T (p.Met1Leu)
INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT,INTRON
rs138327418 Likely Benign: not provided 210,349,043(+) A/G
NM_018194.6(HHAT):c.68A>G (p.Tyr23Cys)
MISSENSE_VARIANT,INTRON
rs142420396 Benign: not provided 210,464,605(+) C/T
NM_018194.6(HHAT):c.957C>T (p.Pro319=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HHAT Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)
HHAT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HHAT
Leiden Open Variation Database (LOVD)
HHAT

SNP Genotyping and Copy Number Assays for research

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

Disorders for HHAT Gene

MalaCards: The human disease database

(8) MalaCards diseases for HHAT Gene - From: OMI, CVR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
nivelon-nivelon-mabille syndrome
  • nnms
ancylostomiasis
  • ancylostoma duodenale infection
melanoma
  • malignant melanoma
pseudohermaphroditism
  • indeterminate sex and pseudohermaphroditism
holoprosencephaly 7
  • hpe7
- 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

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  2. Membrane topology of hedgehog acyltransferase. (PMID: 25488661) Matevossian A … Resh MD (The Journal of biological chemistry 2015) 3 4
  3. 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 genetics 2014) 3 72
  4. 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 40
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4

Products for HHAT Gene

Sources for HHAT Gene