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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HHATL Gene

protein-coding   GIFtS: 48
GCID: GC03M042734

Hedgehog Acyltransferase-Like

(Previous names: chromosome 3 open reading frame 3, GUP1, glycerol uptake/transporter...)
(Previous symbols: C3orf3, GUP1)
  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)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Hedgehog Acyltransferase-Like1 2     GUP1, Glycerol Uptake/Transporter Homolog (Yeast)1
C3orf31 2 3     MBOAT32
GUP11 2 3     MSTP0022
Membrane Bound O-Acyltransferase Domain Containing 31 2     OACT32
Glycerol Uptake/Transporter Homolog2 3     GUP1 Glycerol Uptake/Transporter Homolog2
Hedgehog Acyltransferase-Like Protein2 3     Protein-Cysteine N-Palmitoyltransferase HHAT-Like Protein2
Chromosome 3 Open Reading Frame 31     KIAA11733

External Ids:    HGNC: 132421   Entrez Gene: 574672   Ensembl: ENSG000000102827   OMIM: 6081165   UniProtKB: Q9HCP63   
ORGUL members:         
NONCODE14:n408000      

Export aliases for HHATL gene to outside databases

Previous GC identifers: GC03M042714 GC03M042715


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for HHATL Gene: 
HHATL (hedgehog acyltransferase-like) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with HHATL include skin squamous cell carcinoma, and macular degeneration. An important paralog of this gene is HHAT.

UniProtKB/Swiss-Prot: HHATL_HUMAN, Q9HCP6
Function: Negatively regulates N-terminal palmitoylation of SHH by HHAT/SKN (By similarity)




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  NT_022517.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HHATL gene promoter:
         NF-1   Pax-5   NRSF form 1   HSF1 (long)   Nkx2-5   NRSF form 2   NRF-2   HSF2   HSF1short   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHHATL promoter sequence
   Search SABiosciences Chromatin IP Primers for HHATL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HHATL


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

Entrez Gene cytogenetic band: 3p22.1   Ensembl cytogenetic band:  3p22.1   HGNC cytogenetic band: 3p22

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

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M042734:  view genomic region     (about GC identifiers)

Start:
42,734,155 bp from pter      End:
42,744,319 bp from pter
Size:
10,165 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: HHATL_HUMAN, Q9HCP6 (See protein sequence)
Recommended Name: Protein-cysteine N-palmitoyltransferase HHAT-like protein  
Size: 504 amino acids; 56703 Da
Subunit: Interacts with SHH (By similarity)
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity)
Secondary accessions: Q8TBG3 Q9ULP7

Explore the universe of human proteins at neXtProt for HHATL: NX_Q9HCP6

Explore proteomics data for HHATL at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9HCP6

  • HHATL Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HHATL Protein Expression
    REFSEQ proteins: NP_065758.3  
    ENSEMBL proteins: 
     ENSP00000401568   ENSP00000310621   ENSP00000405423   ENSP00000403787   ENSP00000395779  
     ENSP00000415351   ENSP00000413810   ENSP00000408999  

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

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum ISS--
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016021integral to membrane IEA--
    GO:0048471perinuclear region of cytoplasm IDA11374908

    HHATL for ontologies           About GeneDecksing



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

    Graphical View of Domain Structure for InterPro Entry Q9HCP6

    ProtoNet protein and cluster: Q9HCP6

    1 Blocks protein domain: IPB004299 Membrane bound O-acyl transferase

    UniProtKB/Swiss-Prot: HHATL_HUMAN, Q9HCP6
    Similarity: Belongs to the membrane-bound acyltransferase family. HHAT subfamily


    HHATL 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HHATL_HUMAN, Q9HCP6
    Function: Negatively regulates N-terminal palmitoylation of SHH by HHAT/SKN (By similarity)

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    HHATL for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for HHATL:
     Decreased viability of wild-ty  Synthetic lethal with Ras  Wnt reporter upregulated 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for HHATL 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HHATL

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HHATL 
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HHATL

    1 Interacting protein for HHATL (Q9HCP63) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CACNA1AO005553I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0060262negative regulation of N-terminal protein palmitoylation ISS--

    HHATL for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HHATL for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HHATL

    1 Novoseek inferred chemical compound relationship for HHATL gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycerol 75.1 15 12397183 (4), 12902266 (1), 14739328 (1), 19096779 (1) (see all 10)

    Search CenterWatch for drugs/clinical trials and news about HHATL

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HHATL gene: 
    NM_020707.3  

    Unigene Cluster for HHATL:

    Hedgehog acyltransferase-like
    Hs.476041  [show with all ESTs]
    Unigene Representative Sequence: NM_020707
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000490003 ENST00000466007 ENST00000426666 ENST00000310417(uc003clw.3)
    ENST00000441594(uc003clx.3) ENST00000480939 ENST00000457462 ENST00000416756
    ENST00000455195 ENST00000417472 ENST00000442469 ENST00000497000
    miRNA
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    Additional mRNA sequence: 

    AB032999.1 AB042554.1 AF109356.1 BC022529.1 NR_027753.1 

    14 DOTS entries:

    DT.120860170  DT.91888471  DT.40221662  DT.86852410  DT.110183  DT.40307634  DT.100813389  DT.99998602 
    DT.97841914  DT.97841918  DT.95169544  DT.97779809  DT.110182  DT.120860203 

    24/115 AceView cDNA sequences (see all 115):

    BM710469 BM709407 BQ636656 AW104762 AB042554 BM696113 BX280806 AI866785 
    BX279905 BM664398 BM709726 AI332809 BU733344 AI243422 BU728280 F16581 
    AL138080 AA485602 AI199105 BM693454 BF724275 AK058196 BM671928 AB032999 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for HHATL (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c ^ 14
    SP1:                                                                                                              -           -                     
    SP2:                    -     -     -                                                                             -           -                     
    SP3:              -     -     -     -                                                                                                               
    SP4:                    -     -     -                             -                                                                                 
    SP5:                                -                                                                                                               


    ECgene alternative splicing isoforms for HHATL

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HHATL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACAACCTTG
    HHATL Expression
    About this image


    See HHATL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HHATL

    SOURCE GeneReport for Unigene cluster: Hs.476041

    UniProtKB/Swiss-Prot: HHATL_HUMAN, Q9HCP6
    Tissue specificity: Heart-specific

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HHATL

    (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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for HHATL gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hhatl1 , 5 hedgehog acyltransferase-like1, 5 87.48(n)1
    91.05(a)1
      9 (72.62 cM)5
    747701  NM_029095.21  NP_083371.21 
     1217840165 
    chicken
    (Gallus gallus)
    Aves HHATL1 hedgehog acyltransferase-like 70.38(n)
    67.99(a)
      420391  NM_001199576.1  NP_001186505.1 
    lizard
    (Anolis carolinensis)
    Reptilia HHATL6
    Uncharacterized protein
    65(a)
    1 ↔ 1
    6(2742818-2767979)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC532612 hypothetical protein MGC53261 75.35(n)    BC043836.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc777502 hypothetical protein MGC77750 75.5(n)   393861  BC063975.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GUP16
    GUP26
    Plasma membrane protein involved in remodeling GPI...
    Probable membrane protein with a possible role in ...
    17(a)
    14(a)
    many ↔ many
    many ↔ many
    VII(350616-352298)
    XVI(189154-190983)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HHATL gene
    HHAT2  

    HHATL 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/347 SNPs in HHATL are shown (see all 347)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1479532071,2
    C--42734586(+) GGCGCC/TGGGCA 3 Q R mis11Minor allele frequency- T:0.00NA 4552
    rs1504555071,2
    C,F--42734587(+) GCGCCG/CGGCAA 3 /R /G mis12Minor allele frequency- C:0.00NA EU 5873
    rs1893463661,2
    C--42734747(+) ACAAGA/TGGCCA 2 -- int11Minor allele frequency- T:0.00EU 787
    rs748532741,2
    C--42734750(+) AGAGGC/ACAAAG 2 -- int13Minor allele frequency- A:0.02WA EA EU 985
    rs1481174071,2
    --42734863(+) TAAACA/GTGGGG 2 -- int10--------
    rs1439311711,2
    C--42734965(+) CAGAGC/TGAGCC 2 -- int10--------
    rs1503640231,2
    C--42735054(+) CAGTG-/CCCCCC 2 -- int10--------
    rs2003932201,2
    --42735060(+) CCCCCA/CCGCCC 2 -- int10--------
    rs2004468491,2
    --42735062(+) CCCCCA/GCCCTC 2 -- int10--------
    rs1994996951,2
    C--42735117(+) AATTCA/GTGCTA 3 R * stg10--------

    HapMap Linkage Disequilibrium report for HHATL (42734155 - 42744319 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for HHATL: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing HHATL
    DNA2.0 Custom Variant and Variant Library Synthesis for HHATL

    (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.)
    About This Section
    OMIM gene information: 608116    OMIM disorders: --

    4 diseases for HHATL:    About MalaCards
    skin squamous cell carcinoma    macular degeneration    squamous cell carcinoma    ataxia


    HHATL for disorders           About GeneDecksing


    Export disorders for HHATL 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)
    About This Section

    PubMed articles for HHATL gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with HHATL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of novel heart-specific genes using the BodyMap database. (PubMed id 11374908)1, 2, 3 Soejima H.... Mukai T. (2001)
    2. 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. (2004)
    3. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PubMed id 10574461)1, 2 Hirosawa M.... Ohara O. (1999)
    4. Comparison of an expanded ataxia interactome with pat ient medical records reveals a relationship between macular degeneration and at axia. (PubMed id 21078624)1 Kahle J.J....Zoghbi H.Y. (2011)
    5. [Expression, clinical and pathological significance o f KIAA1173 gene in skin squamous cell carcinoma]. (PubMed id 20646595)1 Zhang S.Q....Zhang X.B. (2010)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    7. Origin of plant glycerol transporters by horizontal gene transfer and functional recruitment. (PubMed id 12397183)9 Zardoya R....Chrispeels M.J. (2002)
    8. Expression and function of aquaporins in human skin: Is aquaporin-3 just a glycerol transporter? (PubMed id 16872579)9 Boury-Jamot M....Verbavatz J.M. (2006)
    9. The zebrafish genome encodes the largest vertebrate r epertoire of functional aquaporins with dual paralogy and substrate specificiti es similar to mammals. (PubMed id 20149227)9 Tingaud-Sequeira A....CerdA J. (2010)
    10. Skin aquaporins: function in hydration, wound healing, and skin epidermis homeostasis. (PubMed id 19096779)9 Boury-Jamot M....Verbavatz J.M. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57467 HGNC: 13242 AceView: KIAA1173andFLJ25467 Ensembl:ENSG00000010282 euGenes: HUgn57467
    ECgene: HHATL H-InvDB: HHATL

    (According to HUGE)
    About This Section
    HUGE: KIAA1173

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HHATL Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HHATL gene:
    Search GeneIP for patents involving HHATL

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



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