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HHAT Gene

protein-coding   GIFtS: 55
GCID: GC01P210501

Hedgehog Acyltransferase

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Hedgehog Acyltransferase1 2 3     Skn2
MART22 3 5     Melanoma Antigen Recognized By T Cells 22
SKI12 3 5     Protein-Cysteine N-Palmitoyltransferase HHAT2
Melanoma Antigen Recognized By T-Cells 22 3     EC 2.3.1.-3
Skinny Hedgehog Protein 12 3     MART-23

External Ids:    HGNC: 182701   Entrez Gene: 557332   Ensembl: ENSG000000543927   OMIM: 6057435   UniProtKB: Q5VTY93   

Export aliases for HHAT gene to outside databases

Previous GC identifers: GC01P206890 GC01P208568 GC01P181175


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 ancylostomiasis, and thoracic outlet syndrome. GO annotations related to this gene include palmitoyltransferase activity and GTP binding. An important paralog of this gene is HHATL.

UniProtKB/Swiss-Prot: HHAT_HUMAN, Q5VTY9
Function: Catalyzes N-terminal palmitoylation of SHH; which is required for SHH signaling (By similarity). May
bind GTP




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HHAT gene promoter:
         MEF-2A   HOXA3   ATF-2   POU6F1 (c2)   STAT5A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHHAT promoter sequence
   Search Chromatin IP Primers for HHAT

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HHAT


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q32   Ensembl cytogenetic band:  1q32.2   HGNC cytogenetic band: 1q32

HHAT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HHAT gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P210501:  view genomic region     (about GC identifiers)

Start:
210,501,596 bp from pter      End:
210,849,638 bp from pter
Size:
348,043 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: HHAT_HUMAN, Q5VTY9 (See protein sequence)
Recommended Name: Protein-cysteine N-palmitoyltransferase HHAT  
Size: 493 amino acids; 57313 Da
Secondary accessions: B7Z4D5 B7Z5I1 B7Z868 B7ZA75 D3DT91 F5H444 Q17RZ7 Q4G0K3 Q5CZ95 Q5TGI2
Q9NVH9 Q9Y3N8
Alternative splicing: 7 isoforms:  Q5VTY9-1   Q5VTY9-2   Q5VTY9-3   Q5VTY9-4   Q5VTY9-5   Q5VTY9-6   Q5VTY9-7   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HHAT: NX_Q5VTY9

Explore proteomics data for HHAT at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See HHAT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001116306.1  NP_001164035.1  NP_001164051.1  NP_001164058.1  NP_001164059.1  NP_060664.2  

    ENSEMBL proteins: 
     ENSP00000261458   ENSP00000355977   ENSP00000413399   ENSP00000355976   ENSP00000438468  
     ENSP00000416845   ENSP00000444995   ENSP00000442625   ENSP00000375773   ENSP00000308628  
     ENSP00000439229  

    HHAT Human Recombinant Protein Products:

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    Novus Biologicals HHAT Protein
    Novus Biologicals HHAT Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for HHAT

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    HHAT Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HHAT
    Cloud-Clone Corp. CLIAs for HHAT


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR004299 MBOAT_fam

    Graphical View of Domain Structure for InterPro Entry Q5VTY9

    ProtoNet protein and cluster: Q5VTY9

    UniProtKB/Swiss-Prot: HHAT_HUMAN, Q5VTY9
    Similarity: Belongs to the membrane-bound acyltransferase family. HHAT subfamily


    HHAT for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HHAT_HUMAN, Q5VTY9
    Function: Catalyzes N-terminal palmitoylation of SHH; which is required for SHH signaling (By similarity). May
    bind GTP

         Enzyme Number (IUBMB): EC 2.3.1.-1

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005525GTP binding IEA--
    GO:0016409palmitoyltransferase activity IEA--
    GO:0016740transferase activity ----
         
    HHAT for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Hhat):
     embryogenesis  growth/size/body  limbs/digits/tail  mortality/aging  nervous system 
     skeleton 

    HHAT for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for HHAT: Hhattm2Ptch Hhattm1Ptch

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HHAT
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HHAT

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HHAT
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HHAT

    miRNA
    Products:
        
    miRTarBase miRNAs that target HHAT:
    hsa-mir-193b-3p (MIRT016338), hsa-mir-122-5p (MIRT023266)

    Block miRNA regulation of human, mouse, rat HHAT using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HHAT (see all 14):
    hsa-miR-4324 hsa-miR-3671 hsa-miR-34c-3p hsa-miR-607 hsa-miR-1283 hsa-miR-522 hsa-miR-432 hsa-miR-224*
    SwitchGear 3'UTR luciferase reporter plasmidHHAT 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HHAT
    Predesigned siRNA for gene silencing in human, mouse, rat HHAT

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for HHAT (see all 31)
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    GenScript: all cDNA clones in your preferred vector (see all 6): HHAT (NM_018194)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HHAT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HHAT

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for HHAT
    Browse ESI BIO Cell Lines and PureStem Progenitors for HHAT 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HHAT


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HHAT_HUMAN, Q5VTY9: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3
    peroxisome2
    cytosol1
    extracellular1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016021integral component of membrane IEA--

    HHAT for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for HHAT About    
    See pathways by source

    SuperPathContained pathways About
    1Signaling events mediated by the Hedgehog family
    Signaling events mediated by the Hedgehog family


    1 BioSystems Pathway for HHAT
        Signaling events mediated by the Hedgehog family


        Pathway & Disease-focused RT2 Profiler PCR Array including HHAT: 
              Hedgehog Signaling Pathway in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for HHAT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for HHAT (Q5VTY93 ENSP000002614584) via UniProtKB, MINT, STRING, and/or I2D (see all 29)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTR5Q9H9F93I2D: score=5 
    ARP102753I2D: score=1 
    DHHO433233I2D: score=1 
    SHHENSP000002972614STRING: ENSP00000297261
    MYO1FENSP000003448714STRING: ENSP00000344871
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007224smoothened signaling pathway IEA--
    GO:0007275multicellular organismal development IEA--
    GO:0018345protein palmitoylation IEA--

    HHAT for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
    Selected ApexBio Compounds for HHAT (see all 14)     About this table
    CompoundAction CAS #
    AY 9944 dihydrochlorideInhibitor of hedgehog (Hh) signaling[366-93-8]
    AZ 12080282 dihydrochlorideInhibitor of Hedgehog (Hh) signaling--
    Ciliobrevin AHedgehog (Hh) pathway antagonist[302803-72-1]
    CyclopamineSmoothened inhibitor, directly binds to Smoothened and blocks Hedgehog pathway[4449-51-8]
    GANT 58novel and potent Gli antagonist[64048-12-0]
    GANT61GLI antagonist,inhibits GLI1 and GLI2-induced transcription[500579-04-4]
    GDC-0449 (Vismodegib)Hedgehog antagonist [879085-55-9]
    HPI 1Hedgehog (Hh) signaling inhibitor. [599150-20-6]
    JervineInhibitor of Hedgehog signaling[469-59-0]
    JK 184Potent downstream hedgehog (Hh) signaling inhibitor[315703-52-7]

    Browse Tocris compounds for HHAT

    1 HMDB Compound for HHAT    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HHAT gene (6 alternative transcripts): 
    NM_001122834.3  NM_001170564.2  NM_001170580.2  NM_001170587.2  NM_001170588.2  NM_018194.5  

    Unigene Cluster for HHAT:

    Hedgehog acyltransferase
    Hs.58650  [show with all ESTs]
    Unigene Representative Sequence: BC051191
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261458(uc001hhz.4 uc010pss.2) ENST00000367010(uc021pip.1)
    ENST00000426968 ENST00000367009(uc001hia.4) ENST00000545154(uc010psr.2 uc010pst.2)
    ENST00000413764(uc009xcx.3) ENST00000541565(uc010psq.2) ENST00000537898(uc009xcy.3 uc010psu.2)
    ENST00000391905 ENST00000308852 ENST00000545781
    miRNA
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    Block miRNA regulation of human, mouse, rat HHAT using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HHAT (see all 14):
    hsa-miR-4324 hsa-miR-3671 hsa-miR-34c-3p hsa-miR-607 hsa-miR-1283 hsa-miR-522 hsa-miR-432 hsa-miR-224*
    SwitchGear 3'UTR luciferase reporter plasmidHHAT 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for HHAT
    Predesigned siRNA for gene silencing in human, mouse, rat HHAT
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 6): HHAT (NM_018194)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HHAT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HHAT
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for HHAT
    OriGene qSTAR qPCR primer pairs in human, mouse for HHAT
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HHAT
      QuantiTect SYBR Green Assays in human, mouse, rat HHAT
      QuantiFast Probe-based Assays in human, mouse, rat HHAT

    Additional mRNA sequence: 

    AK001586.1 AK092186.1 AK295130.1 AK297193.1 AK298991.1 AK299200.1 AK302955.1 AK316190.1 
    AK316524.1 AL049848.1 BC039071.1 BC051191.1 BC117130.1 CR936628.1 

    6 DOTS entries:

    DT.109649  DT.100017974  DT.121393550  DT.95239376  DT.75131978  DT.121393519 

    Selected AceView cDNA sequences (see all 44):

    AK092186 AA659886 BX117517 CK903268 AL049848 CN478989 BI491131 BI820245 
    BI711404 BI551726 AL710925 BE856979 BQ722190 W81463 AK001586 W92273 
    NM_018194 BC051191 AA010728 AI951472 W81493 BI560701 AU130633 AI074460 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for HHAT    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b
    SP1:        -     -     -     -                                               -                                       
    SP2:                    -     -                                               -                                       
    SP3:                                                                                                                  
    SP4:                                -     -                                                                           


    ECgene alternative splicing isoforms for HHAT

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HHAT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACCAACAGT
    HHAT Expression
    About this image


    HHAT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Blood (Hematopoietic System)
             Monocytes Peripheral Blood
     
     Heart (Cardiovascular System)
     
     Limb (Muscoskeletal System)
    HHAT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HHAT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.58650

    UniProtKB/Swiss-Prot: HHAT_HUMAN, Q5VTY9
    Tissue specificity: Ubiquitously expressed in normal tissues and cancer cell lines

        Pathway & Disease-focused RT2 Profiler PCR Array including HHAT: 
              Hedgehog Signaling Pathway in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for HHAT
    OriGene qSTAR qPCR primer pairs in human, mouse for HHAT
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HHAT
    QuantiTect SYBR Green Assays in human, mouse, rat HHAT
    QuantiFast Probe-based Assays in human, mouse, rat HHAT
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HHAT

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for HHAT gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hhat1 , 5 hedgehog acyltransferase1, 5 83.74(n)1
    83.94(a)1
      1 (97.55 cM)5
    2268611  NM_144881.41  NP_659130.21 
     1925128285 
    chicken
    (Gallus gallus)
    Aves HHAT1 hedgehog acyltransferase 65.99(n)
    64.97(a)
      771269  XM_001234560.2  XP_001234561.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    66(a)
    61(a)
    1 ↔ many
    1 ↔ many
    1(237390841-237468096)
    1(237255452-237325033)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia hhat1 hedgehog acyltransferase 62.84(n)
    61.68(a)
      100490766  XM_002934677.2  XP_002934723.2 
    zebrafish
    (Danio rerio)
    Actinopterygii hhat1 hedgehog acyltransferase 57.81(n)
    49.58(a)
      560334  NM_001114890.1  NP_001108362.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta rasp1 rasp 46.29(n)
    30.39(a)
      44098  NM_079174.2  NP_523898.1 
    worm
    (Caenorhabditis elegans)
    Secernentea hhat-21 hhat-2 44.26(n)
    31.56(a)
      190374  NM_001268911.1  NP_001255840.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GUP2(YPL189W)4 Probable membrane protein with a possible role in proton more   --   16(189154-190983) 855912  NP_015135.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HHAT gene
    HHATL2  

    HHAT for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HHAT (see all 8015)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0247454
    A lung cancer cell line4--see VAR_0247452 N S mis40--------
    VAR_0247444
    A melanoma cell line4--see VAR_0247442 G E mis40--------
    rs38354121,2
    C--181267301(-) AAACA-/AT/TA 
            
    ATGTT
    6 -- int10--------
    rs665167211,2
    C--181275329(-) AAAAT-/TA/TATATATATATATAT
    ATATATATATATATATATATA
    TATAT
    12 -- int1 cds12NA 4
    rs680048501,2
    C--181456086(-) CACAC-/CATTA 
            
    CATTT
    6 -- int11Minor allele frequency- CATTA:0.00NA 2
    rs348286631,2
    --210499631(+) ATGCCC/TGGCTA 2 -- us2k10--------
    rs1396148891,2
    --210499695(+) GGTCTC/TGATCT 2 -- us2k10--------
    rs1920572681,2
    --210499699(+) TTGATC/TTCCTG 2 -- us2k10--------
    rs1808357521,2
    C--210499709(+) GACTTC/TGTGAT 2 -- us2k10--------
    rs75371331,2
    C,F--210499721(+) cacccA/Gccttg 2 -- us2k13Minor allele frequency- G:0.17NA WA 6

    HapMap Linkage Disequilibrium report for HHAT (210501596 - 210751596 bp, first 250kb of HHAT)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for HHAT (see all 53):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv4955CNV Deletion18987735
    esv2421437CNV Deletion20811451
    esv2722317CNV Deletion23290073
    esv988198CNV Deletion20482838
    esv2722295CNV Deletion23290073
    esv2497060CNV Deletion19546169
    nsv820875CNV Deletion20802225
    esv2255563CNV Deletion18987734
    esv2193652CNV Deletion18987734
    esv2722306CNV Deletion23290073

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605743    OMIM disorders: --

    9 diseases for HHAT:    
    About MalaCards
    ancylostomiasis    thoracic outlet syndrome    melanoma    aspergillosis
    hepatitis c virus    hepatitis c    schizophrenia    hepatitis
    malaria

    1 disease from the University of Copenhagen DISEASES database for HHAT:
    Aspergillosis

    HHAT for disorders           About GeneDecksing

    Genetic Association Database (GAD): HHAT
    Human Genome Epidemiology (HuGE) Navigator: HHAT (2 documents)

    Export disorders for HHAT gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HHAT gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with HHAT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of a new melanoma antigen, MART-2, containing a mutated epitope recognized by autologous tumor-infiltrating T lymphocytes. (PubMed id 11160356)1, 2, 3 Kawakami Y.... Rosenberg S. (J. Immunol. 2001)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Skinny hedgehog, an acyltransferase required for palmitoylation and activity of the hedgehog signal. (PubMed id 11486055)1, 2 Chamoun Z.... Basler K. (Science 2001)
    7. The hedgehog processing pathway is required for NSCLC growth and survival. (PubMed id 22733134)1 Rodriguez-Blanco J....Robbins D.J. (Oncogene 2013)
    8. Whole-genome-wide association study in the Bulgarian population reveals HHAT as schizophrenia susceptibility gene. (PubMed id 23142968)1 Betcheva E.T....Nakamura Y. (Psychiatr. Genet. 2013)
    9. SKI-1/S1P inhibition: a promising surrogate to statins to block hepatitis C virus replication. (PubMed id 22626636)1 Blanchet M....LabontAc P. (Antiviral Res. 2012)
    10. Identification of N-terminal residues of Sonic Hedgehog important for palmitoylation by Hedgehog acyltransferase. (PubMed id 23112049)1 Hardy R.Y. and Resh M.D. (J. Biol. Chem. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 55733 HGNC: 18270 AceView: HHAT Ensembl:ENSG00000054392 euGenes: HUgn55733
    ECgene: HHAT H-InvDB: HHAT

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for HHAT Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for HHAT Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for HHAT gene:
    Search GeneIP for patents involving HHAT

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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