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

HHATL Gene

protein-coding   GIFtS: 47
GCID: GC03M042734

hedgehog acyltransferase-like

(Previous names: chromosome 3 open reading frame 3, GUP1, glycerol uptake/transporter...)
(Previous symbols: C3orf3, GUP1)
 Explore 5 diseases affiliated with
HHATL via our new
 Human Malady Compendium 
Biological research products
for HHATL
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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     Glycerol Uptake/Transporter Homolog2 3
C3orf31 2 3     Hedgehog Acyltransferase-Like Protein2 3
GUP11 2 3     Chromosome 3 Open Reading Frame 31
MBOAT31 2     GUP1, Glycerol Uptake/Transporter Homolog (Yeast)1
MSTP0021 2     GUP1 Glycerol Uptake/Transporter Homolog2
OACT31 2     Membrane Bound O-Acyltransferase Domain Containing 32
KIAA11731 3     Protein-Cysteine N-Palmitoyltransferase HHAT-Like Protein2

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

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9HCP6

  • HHATL Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

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    Browse ProSpec Recombinant Proteins
    Uscn 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 InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    HHATL for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR004299 MBOAT_fam

    Graphical View of Domain Structure for InterPro Entry Q9HCP6

    ProtoNet protein and cluster: Q9HCP6

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

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

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

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    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


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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 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, 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 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 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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 cDNA 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):

    AI866785 BM709407 BM664398 AK058196 AW104762 AB032999 BU728280 BU733344 
    CF552510 BM671928 BM710469 AI199105 BF724275 BX280806 BM696113 F16581 
    BM693454 AL138080 AA485602 BQ636656 BM709726 AI332809 AB042554 BX279905 

    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
    CGAP TAG: TACAACCTTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene 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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    (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 eukaryotes.

    Orthologs for HHATL gene from 7/18 species (see all 18)    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
    --
    65(a)
    1 ↔ 1
    6(2742954-2762355)
    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 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G576006
    MBOAT (membrane bound O-acyl transferase)-like pro...
    15(a)
    1 → many
    1(21330512-21334727)
    rice
    (Oryza sativa)
    Liliopsida --
    O-acyltransferase, putative, expressed
    17(a)
    1 → many
    5(2528880-2536229)


    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, UniProtKB, 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

    10/278 NCBI SNPs in HHATL are shown (see all 278    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs38460621,2
    C,F,A,H,--42733667(-) ACCCTG/TGCCCA 3 -- ut31 int133Minor allele frequency- T:0.44NA EA MN NS WA CSA 3089
    rs1179910801,2
    --42733747(+) AGGGCG/AGTATC 3 -- ut31 int11Minor allele frequency- A:0.01EA 120
    rs1403411481,2
    --42733777(+) TGCCCC/TAGCCT 3 -- int1 ut310--------
    rs761382231,2
    --42733827(+) TTCTCA/GTCTTT 3 -- int1 ut310--------
    rs1235081,2
    C,H,--42733831(-) TCGGAA/C/GAGACG 2 -- int112MN NA WA CSA 205
    rs1177401031,2
    F,--42733885(+) TCCTTC/GTTTAG 3 -- ut31 int11Minor allele frequency- G:0.03EA 120
    rs1493515921,2
    --42733932(+) TCTGCA/CTCAGT 3 -- int1 ut310--------
    rs1157890811,2
    F,--42734014(+) CGATGG/ATCTCT 3 -- int11Minor allele frequency- A:0.07WA 118
    rs788600771,2
    --42734066(+) CTCCCC/TTGCCT 3 -- int10--------
    rs1894800131,2
    C,--42734295(+) AGGTTC/TGCTCA 4 Q R mis1 int10--------

    HapMap Linkage Disequilibrium report for HHATL (42734155 - 42744319 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for HHATL: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    HHATL for disorders           About GeneDecksing

    OMIM gene information: 608116    OMIM disorders: --

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


    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)
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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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