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

HLTF Gene

protein-coding   GIFtS: 53
GCID: GC03M148747

Helicase-Like Transcription Factor

(Previous names: SWI/SNF related, matrix associated, actin dependent regulator...)
(Previous symbols: SNF2L3, SMARCA3)
  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

Aliases
Helicase-Like Transcription Factor1 2     RING Finger Protein 802 3
SMARCA31 2 3 5     SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin
Subfamily A Member 32 3
SNF2L31 2 3 5     HLTF12
HIP1162 3 5     DNA-Binding Protein/Plasminogen Activator Inhibitor-1 Regulator2
SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of
Chromatin, Subfamily A, Member 31 2
     SNF2-Like 32
Sucrose Nonfermenting Protein 2-Like 32 3     Sucrose Nonfermenting-Like 32
HIP116A2 3     EC 3.6.4.-3
RNF802 3     EC 6.3.2.-3
ZBU12 3     EC 3.6.18
DNA-Binding Protein/Plasminogen Activator Inhibitor 1 Regulator2 3     

External Ids:    HGNC: 110991   Entrez Gene: 65962   Ensembl: ENSG000000717947   OMIM: 6032575   UniProtKB: Q145273   

Export aliases for HLTF gene to outside databases

Previous GC identifers: GC03M150231 GC03M146119


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

Entrez Gene summary for HLTF Gene:
This gene encodes a member of the SWI/SNF family. Members of this family have helicase and ATPase activities and
are thought to regulate transcription of certain genes by altering the chromatin structure around those genes.
The encoded protein contains a RING finger DNA binding motif. Two transcript variants encoding the same protein
have been found for this gene. However, use of an alternative translation start site produces an isoform that is
truncated at the N-terminus compared to the full-length protein. (provided by RefSeq, Jul 2008)

GeneCards Summary for HLTF Gene: 
HLTF (helicase-like transcription factor) is a protein-coding gene. Diseases associated with HLTF include gastric cardia adenocarcinoma, and cervical adenocarcinoma. GO annotations related to this gene include helicase activity and ATPase activity. An important paralog of this gene is TTF2.

UniProtKB/Swiss-Prot: HLTF_HUMAN, Q14527
Function: Has both helicase and E3 ubiquitin ligase activities. Possesses intrinsic ATP-dependent
nucleosome-remodeling activity; This activity may be required for transcriptional activation or repression of
specific target promoters (By similarity). These may include the SERPINE1 and HIV-1 promoters and the SV40
enhancer, to which this protein can bind directly. Plays a role in error-free postreplication repair (PRR) of
damaged DNA and maintains genomic stability through acting as a ubiquitin ligase for 'Lys-63'-linked
polyubiquitination of chromatin-bound PCNA

Gene Wiki entry for HLTF Gene


(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  NT_005612.16  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HLTF gene promoter:
         STAT5B   RP58   NF-YA   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   C/EBPalpha   CHOP-10   NF-YB   NF-Y   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHLTF promoter sequence
   Search SABiosciences Chromatin IP Primers for HLTF

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


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

Entrez Gene cytogenetic band: 3q25.1-q26.1   Ensembl cytogenetic band:  3q24   HGNC cytogenetic band: 3q25.1-q26.1

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

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M148747:  view genomic region     (about GC identifiers)

Start:
148,747,904 bp from pter      End:
148,804,341 bp from pter
Size:
56,438 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: HLTF_HUMAN, Q14527 (See protein sequence)
Recommended Name: Helicase-like transcription factor  
Size: 1009 amino acids; 113929 Da
Subunit: Interacts with SP1 and SP3 independently of DNA; the interaction with these transcriptional factors may
be required for basal transcription of target genes. Interacts with EGR1; the interaction requires prior binding
to DNA and represses c-Rel via a DNA looping mechanism (By similarity). Interacts with GATA4 (By similarity).
Interacts with PCNA; the interaction promotes polyubiquitination of PCNA through association with the UBE2B-RAD18
and UBE2V2-UBE2N ubiquitin ligase complexes. Interacts with RAD18, SHPRH, UBE2V2 and UBE2N
Subcellular location: Cytoplasm (By similarity). Nucleus. Nucleus, nucleolus (By similarity). Nucleus, nucleoplasm
(By similarity). Note=Nuclear localization is stimulated by progesterone (By similarity)
Miscellaneous: Subject to frequent epigenetic inactivation by promoter methylation in colon cancer
Caution: In contrast with other SMARC proteins, there is currently no evidence that it associates with actin or
actin-related proteins. It may rather act as a sequence-specific DNA binding ATPase, whose precise function
remains to be fully characterized
3 PDB 3D structures from and Proteopedia for HLTF:
2L1I (3D)        4HRE (3D)        4HRH (3D)    
Secondary accessions: D3DNH3 Q14536 Q16051 Q7KYJ6 Q86YA5 Q92652 Q96KM9
Alternative initiation: 2 isoforms:  Q14527-1   Q14527-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HLTF: NX_Q14527

Explore proteomics data for HLTF at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q14527

  • 4/6 DME Specific Peptides for HLTF (Q14527) (see all 6)
     GGVGLNL  MGLGKTL  LRQICCH  LLLRLRQ 

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

    HLTF Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_003062.2  NP_620636.1  

    ENSEMBL proteins: 
     ENSP00000420745   ENSP00000308944   ENSP00000376644   ENSP00000420429   ENSP00000420106  

    Human Recombinant Protein Products for HLTF: 
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    OriGene Protein Over-expression Lysate for HLTF
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    OriGene Custom Protein Services for HLTF
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    Novus Biologicals HLTF Protein
    Novus Biologicals HLTF Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HLTF 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm IEA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IEA--

    HLTF for ontologies           About GeneDecksing



    HLTF Antibody Products: 
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    ThermoFisher Antibody for HLTF
    LSBio Antibodies in human, mouse, rat for HLTF 

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    Cloud-Clone Corp. ELISAs for HLTF 
    Cloud-Clone Corp. CLIAs for HLTF


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    RNF: RING-type (C3HC4) zinc fingers

    5/8 InterPro protein domains (see all 8):
     IPR001841 Znf_RING
     IPR000330 SNF2_N
     IPR013083 Znf_RING/FYVE/PHD
     IPR014905 HIP116_Rad5p_N
     IPR017907 Znf_RING_CS

    Graphical View of Domain Structure for InterPro Entry Q14527

    ProtoNet protein and cluster: Q14527

    2 Blocks protein domains:
    IPB000330 SNF2 related domain
    IPB001841 Zn-finger


    UniProtKB/Swiss-Prot: HLTF_HUMAN, Q14527
    Similarity: Belongs to the SNF2/RAD54 helicase family. RAD16 subfamily
    Similarity: Contains 1 helicase ATP-binding domain
    Similarity: Contains 1 helicase C-terminal domain
    Similarity: Contains 1 RING-type zinc finger


    HLTF 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: HLTF_HUMAN, Q14527
    Function: Has both helicase and E3 ubiquitin ligase activities. Possesses intrinsic ATP-dependent
    nucleosome-remodeling activity; This activity may be required for transcriptional activation or repression of
    specific target promoters (By similarity). These may include the SERPINE1 and HIV-1 promoters and the SV40
    enhancer, to which this protein can bind directly. Plays a role in error-free postreplication repair (PRR) of
    damaged DNA and maintains genomic stability through acting as a ubiquitin ligase for 'Lys-63'-linked
    polyubiquitination of chromatin-bound PCNA

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 6.3.2.-1 EC 3.6.4.-1

         Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0004386helicase activity IEA--
    GO:0005515protein binding IPI10391891
    GO:0005524ATP binding IEA--
         
    HLTF for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Hltf):
     behavior/neurological  cellular  nervous system 

    HLTF for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Hltftm1.1Arte for HLTF

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HLTF 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HLTF

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

    miRNA
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    8/30 QIAGEN miScript miRNA Assays for microRNAs that regulate HLTF (see all 30):
    hsa-miR-142-5p hsa-miR-320a hsa-miR-548j hsa-miR-3673 hsa-miR-548i hsa-miR-137 hsa-miR-944 hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidHLTF 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HLTF

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of HLTF

    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): HLTF (NM_003071)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HLTF
    Sirion Biotech Customized lentivirus for stable overexpression of HLTF 
                         Customized lentivirus expression plasmids for stable overexpression of HLTF 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for HLTF
    Search LifeMap BioReagents cell lines for HLTF
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HLTF


    (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



    UniProtKB/Swiss-Prot: HLTF_HUMAN, Q14527
    Pathway: Protein modification; protein ubiquitination

    Interactions:

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

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

    5/839 Interacting proteins for HLTF (Q145272, 3 ENSP000003089444) via UniProtKB, MINT, STRING, and/or I2D (see all 839)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBE2NP610882, 3, ENSP000003161764MINT-7945693 MINT-7947479 I2D: score=2 STRING: ENSP00000316176
    RAD18Q9NS912, 3, ENSP000002649264MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000264926
    TRIP13Q156452, 3MINT-7945693 MINT-7947479 I2D: score=2 
    CCT2P783712, 3MINT-7945693 MINT-7947479 I2D: score=1 
    DNAJA1P316892, 3MINT-7945693 MINT-7947479 I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process ----
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent TAS7876228
    GO:0006357regulation of transcription from RNA polymerase II promoter IEA--
    GO:0016567protein ubiquitination IEA--

    HLTF 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

    HLTF for compounds           About GeneDecksing

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

    Browse Tocris compounds for HLTF

    1 Novoseek inferred chemical compound relationship for HLTF gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    azathioprine 27.2 3 11904375 (1), 12766908 (1)

    Search CenterWatch for drugs/clinical trials and news about HLTF

    (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 HLTF gene (2 alternative transcripts): 
    NM_003071.3  NM_139048.2  

    Unigene Cluster for HLTF:

    Helicase-like transcription factor
    Hs.3068  [show with all ESTs]
    Unigene Representative Sequence: NM_003071
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000465259 ENST00000310053(uc003ewq.1 uc003ewr.1 uc003ews.1)
    ENST00000392912 ENST00000494055(uc010hve.1) ENST00000467858 ENST00000472830
    ENST00000497427 ENST00000493881 ENST00000481663
    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HLTF
    8/30 QIAGEN miScript miRNA Assays for microRNAs that regulate HLTF (see all 30):
    hsa-miR-142-5p hsa-miR-320a hsa-miR-548j hsa-miR-3673 hsa-miR-548i hsa-miR-137 hsa-miR-944 hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidHLTF 3' UTR sequence
    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HLTF
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    GenScript: all cDNA clones in your preferred vector (see all 2): HLTF (NM_003071)
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HLTF
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HLTF

    Additional mRNA sequence: 

    AB209052.1 AK291231.1 BC005260.1 BC014326.1 BC015498.1 BC030976.1 BC044659.1 L34673.1 
    S64671.1 

    9 DOTS entries:

    DT.451843  DT.100804525  DT.95174242  DT.100804522  DT.102831190  DT.92433201  DT.101967017  DT.92068624 
    DT.95333928 

    24/237 AceView cDNA sequences (see all 237):

    AA459407 F05282 AL703978 CD106313 CB114393 AA159301 AI422446 AI127505 
    CB134081 BQ422812 BC044659 AU133353 AW026248 AA954793 BM453806 AI656804 
    CR606295 AL041692 AW206598 F01537 F01889 CD656904 Z39375 AA806942 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for HLTF (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21a ·
    SP1:                                                                                                                                            -           -   
    SP2:                                                                                                                                            -           -   
    SP3:                                                                                                                                            -           -   
    SP4:                                                                                                                                                        -   
    SP5:                                                                                                                                                        -   

    ExUns: 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for HLTF

    (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

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


    HLTF expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Testis (Reproductive System)
             XY Germ Cells Testis Cord
     
     Gonad
             XY Germ Cells Testis Cord

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

    SOURCE GeneReport for Unigene cluster: Hs.3068

    UniProtKB/Swiss-Prot: HLTF_HUMAN, Q14527
    Tissue specificity: Expressed in brain, heart, kidney, liver, lung, pancreas, placenta and skeletal muscle

        SABiosciences Expression via Pathway-Focused PCR Arrays including HLTF: 
              Polycomb & Trithorax Complexes in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HLTF
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HLTF

    (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 HLTF gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hltf1 , 5 helicase-like transcription factor1, 5 85.71(n)1
    84.15(a)1
      3 (6.15 cM)5
    205851  NM_009210.21  NP_033236.21 
     200578115 
    lizard
    (Anolis carolinensis)
    Reptilia HLTF6
    Uncharacterized protein
    64(a)
    1 ↔ 1
    3(19103511-19126426)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.123542 Xenopus laevis transcribed sequence with moderate similarity more 79.82(n)    BJ068139.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hltf1 helicase-like transcription factor 58.42(n)
    58.02(a)
      564651  XM_687979.3  XP_693071.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RAD16(YBR114W)4 Protein that recognizes and binds damaged DNA in an more   --   2(467248-469620) 852411  NP_009672.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G051301 DNA/RNA helicase 50.21(n)
    42.09(a)
      830395  NM_120595.2  NP_196132.2 
    rice
    (Oryza sativa)
    Liliopsida Os07g06424001 hypothetical protein 47.52(n)
    40.73(a)
      4344076  NM_001066971.1  NP_001060436.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HLTF gene
    TTF22  
    3 SIMAP similar genes for HLTF using alignment to 5 protein entries:     HLTF_HUMAN (see all proteins):
    BRCA1    TRIM39    TRIM5

    HLTF 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

    10/1116 SNPs in HLTF are shown (see all 1116)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2019328541,2
    C--146122730(+) aaaaa-/ACaaaaa 2 -- int10--------
    rs599961601,2
    C--148736560(+) AAAAA-/AAAAAA
            
    GGGGG
    2 -- int11Minor allele frequency- AAAAAA:0.00NA 2
    rs168613141,2
    C,F,H--148747509(+) ACTGCC/TGAAGA 2 -- ds500110Minor allele frequency- T:0.06NA NS EA WA CSA 684
    rs1156049321,2
    F--148747521(+) CATTAG/CTACTC 2 -- ds50011Minor allele frequency- C:0.01NA 120
    rs1425361541,2
    --148747570(+) ATTCTA/GGAGCT 2 -- ds50010--------
    rs68000631,2
    H--148747729(+) GATTTC/ATGAAC 2 -- ds50014Minor allele frequency- A:0.00NS EA 420
    rs1450659141,2
    --148747745(+) TTTCAA/GCCAGC 2 -- ds50010--------
    rs1388476551,2
    --148747801(+) TGTTAC/GAGTAA 2 -- ds50010--------
    rs2014381031,2
    --148748079(+) GTGGC-/TTTTTT 2 -- ut310--------
    rs1419646581,2
    C--148748145(+) AAATAC/TAACAA 2 -- ut310--------

    HapMap Linkage Disequilibrium report for HLTF (148747904 - 148804341 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for HLTF:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1349617CNV Deletion17803354
    esv2726035CNV Deletion23290073
    nsv829752CNV Loss17160897
    nsv528849CNV Gain19592680
    nsv829753CNV Gain17160897

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603257    OMIM disorders: --

    16 diseases for HLTF:    About MalaCards
    gastric cardia adenocarcinoma    cervical adenocarcinoma    cervical squamous cell carcinoma    endometrial adenocarcinoma
    laryngeal squamous cell carcinoma    cervicitis    squamous cell carcinoma    colorectal cancer
    laryngitis    gastric cancer    colon cancer    esophageal squamous cell carcinoma
    adenocarcinoma    cervical cancer    adenoma    esophagitis


    HLTF for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for HLTF gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    colorectal cancer 57.3 15 15793636 (3), 19282772 (3), 16475679 (2), 12766908 (1) (see all 9)
    colon cancer 43 15 11904375 (5), 16708352 (1), 12901794 (1), 15386372 (1) (see all 5)
    gastric cancer 36.7 14 16497821 (5), 12766908 (4), 12584739 (1), 18316726 (1)
    adenoma 31.7 1 15386372 (1)
    tumors 26.8 23 18825407 (2), 18034322 (1), 19948885 (1), 16708352 (1) (see all 7)
    cancer 25.4 9 18034322 (3), 12766908 (1), 16497821 (1), 16181380 (1) (see all 6)
    metastasis 8.05 6 15793636 (2), 16475679 (1), 17189406 (1), 19614770 (1)
    immunodeficiency 0 1 7876228 (1)


    Export disorders for HLTF 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 HLTF gene, integrated from 9 sources (see all 85):
    (articles sorted by number of sources associating them with HLTF)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. HLTF gene silencing in human colon cancer. (PubMed id 11904375)1, 2, 9 Moinova H.R.... Markowitz S.D. (2002)
    2. Human HLTF functions as a ubiquitin ligase for proliferating cell nuclear antigen polyubiquitination. (PubMed id 18316726)1, 2, 9 Unk I.... Haracska L. (2008)
    3. Cloning of an SNF2/SWI2-related protein that binds specifically to the SPH motifs of the SV40 enhancer and to the HIV-1 promoter. (PubMed id 7876228)1, 2, 9 Sheridan P.L.... Jones K.A. (1995)
    4. Characterization of a helicase-like transcription factor involved in the expression of the human plasminogen activator inhibitor-1 gene. (PubMed id 8672239)1, 2, 9 Ding H.... Belayew A. (1996)
    5. Functional interactions between Sp1 or Sp3 and the helicase-like transcription factor mediate basal expression from the human plasminogen activator inhibitor-1 gene. (PubMed id 10391891)1, 2, 9 Ding H.... Belayew A. (1999)
    6. Developmental regulation of Zbu1, a DNA-binding member of the SWI2/SNF2 family. (PubMed id 9126292)1, 2, 9 Gong X....Rosenthal N. (1997)
    7. Polyubiquitination of proliferating cell nuclear antigen by HLTF and SHPRH prevents genomic instability from stalled replication forks. (PubMed id 18719106)1, 2, 9 Motegi A.... Myung K. (2008)
    8. The HIP116 SNF2/SW12-related transcription factor gene (SNF2L3) is located on human chromosome 3q25.1-q26.1. (PubMed id 7558014)1, 3, 9 Lin Y....Evans G.A. (1995)
    9. 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)
    10. On the regulation of the plasminogen activator inhibitor-1 gene expression. (PubMed id 8342330)1, 2 Descheemaeker K. (1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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
    Entrez Gene: 6596 HGNC: 11099 AceView: SMARCA3 Ensembl:ENSG00000071794 euGenes: HUgn6596
    ECgene: HLTF H-InvDB: HLTF

    (According to HUGE)
    About This Section
      --

    (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 HLTF Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for HLTF 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
    Patent Information for HLTF gene:
    Search GeneIP for patents involving HLTF

    Licensable Technologies for HLTF gene:
     Tufts University:  HLTF and its Target Promoters as Diagnostic and Therapeutic Tools in Treatment of Cancer and Aging
    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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