Human Gene HLTF (ENST00000310053.10_12) from GENCODE V47lift37
  Description: helicase like transcription factor, transcript variant 2 (from RefSeq NM_139048.3)
Gencode Transcript: ENST00000310053.10_12
Gencode Gene: ENSG00000071794.16_15
Transcript (Including UTRs)
   Position: hg19 chr3:148,747,914-148,804,320 Size: 56,407 Total Exon Count: 25 Strand: -
Coding Region
   Position: hg19 chr3:148,750,007-148,804,123 Size: 54,117 Coding Exon Count: 25 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:148,747,914-148,804,320)mRNA (may differ from genome)Protein (1009 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HLTF_HUMAN
DESCRIPTION: RecName: Full=Helicase-like transcription factor; EC=3.6.4.-; EC=6.3.2.-; AltName: Full=DNA-binding protein/plasminogen activator inhibitor 1 regulator; AltName: Full=HIP116; AltName: Full=RING finger protein 80; AltName: Full=SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 3; AltName: Full=Sucrose nonfermenting protein 2-like 3;
FUNCTION: Has both helicasee 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.
PATHWAY: Protein modification; protein ubiquitination.
SUBUNIT: Binds to SP1 and SP3 independent of DNA; the interaction with these transcriptional factors may be required for basal transcription of target genes. 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: Nucleus.
TISSUE SPECIFICITY: Expressed in brain, heart, kidney, liver, lung, pancreas, placenta and skeletal muscle.
MISCELLANEOUS: Subject to frequent epigenetic inactivation by promoter methylation in colon cancer.
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.
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.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: HLTF
Diseases sorted by gene-association score: colorectal cancer (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 27.24 RPKM in Testis
Total median expression: 354.90 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -79.30197-0.403 Picture PostScript Text
3' UTR -464.002093-0.222 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR014001 - Helicase_ATP-bd
IPR001650 - Helicase_C
IPR014905 - HIP116_Rad5p_N
IPR000330 - SNF2_N
IPR001841 - Znf_RING
IPR013083 - Znf_RING/FYVE/PHD
IPR017907 - Znf_RING_CS

Pfam Domains:
PF00097 - Zinc finger, C3HC4 type (RING finger)
PF00176 - SNF2-related domain
PF00271 - Helicase conserved C-terminal domain
PF08797 - HIRAN domain
PF13445 - RING-type zinc-finger
PF13920 - Zinc finger, C3HC4 type (RING finger)
PF13923 - Zinc finger, C3HC4 type (RING finger)

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases
57850 - RING/U-box
57903 - FYVE/PHD zinc finger

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2L1I - NMR


ModBase Predicted Comparative 3D Structure on Q14527
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003723 RNA binding
GO:0003824 catalytic activity
GO:0004386 helicase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008270 zinc ion binding
GO:0016740 transferase activity
GO:0016787 hydrolase activity
GO:0016818 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides
GO:0016887 ATPase activity
GO:0031625 ubiquitin protein ligase binding
GO:0046872 metal ion binding
GO:0061630 ubiquitin protein ligase activity

Biological Process:
GO:0006325 chromatin organization
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0008152 metabolic process
GO:0016567 protein ubiquitination
GO:0045944 positive regulation of transcription from RNA polymerase II promoter

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  LF385505 - JP 2014500723-A/193008: Polycomb-Associated Non-Coding RNAs.
BC044659 - Homo sapiens helicase-like transcription factor, mRNA (cDNA clone MGC:47741 IMAGE:6015181), complete cds.
Z46606 - H.sapiens HLTF gene for helicase-like transcription factor.
AK291231 - Homo sapiens cDNA FLJ76830 complete cds, highly similar to Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3 (SMARCA3), transcript variant 1, mRNA.
L34673 - Human ATPase, DNA-binding protein (HIP116) mRNA, 3' end.
AB209052 - Homo sapiens mRNA for SWI/SNF-related matrix-associated actin-dependent regulator of chromatin a3 variant protein.
LF211642 - JP 2014500723-A/19145: Polycomb-Associated Non-Coding RNAs.
EU446704 - Synthetic construct Homo sapiens clone IMAGE:100070304; IMAGE:100011913; FLH258397.01L helicase-like transcription factor (HLTF) gene, encodes complete protein.
MA621082 - JP 2018138019-A/193008: Polycomb-Associated Non-Coding RNAs.
MA447219 - JP 2018138019-A/19145: Polycomb-Associated Non-Coding RNAs.
JD076914 - Sequence 57938 from Patent EP1572962.
JD487636 - Sequence 468660 from Patent EP1572962.
JD555912 - Sequence 536936 from Patent EP1572962.
JD410031 - Sequence 391055 from Patent EP1572962.
JD564784 - Sequence 545808 from Patent EP1572962.
JD080071 - Sequence 61095 from Patent EP1572962.
JD065887 - Sequence 46911 from Patent EP1572962.
JD359735 - Sequence 340759 from Patent EP1572962.
JD559965 - Sequence 540989 from Patent EP1572962.
JD022416 - Sequence 3440 from Patent EP1572962.
JD082025 - Sequence 63049 from Patent EP1572962.
JD033867 - Sequence 14891 from Patent EP1572962.
JD024199 - Sequence 5223 from Patent EP1572962.
JD034939 - Sequence 15963 from Patent EP1572962.
LF382160 - JP 2014500723-A/189663: Polycomb-Associated Non-Coding RNAs.
LF382159 - JP 2014500723-A/189662: Polycomb-Associated Non-Coding RNAs.
MA617737 - JP 2018138019-A/189663: Polycomb-Associated Non-Coding RNAs.
MA617736 - JP 2018138019-A/189662: Polycomb-Associated Non-Coding RNAs.
BC015498 - Homo sapiens helicase-like transcription factor, mRNA (cDNA clone IMAGE:3884667), partial cds.
BC030976 - Homo sapiens helicase-like transcription factor, mRNA (cDNA clone IMAGE:4697217), partial cds.
BC005260 - Homo sapiens helicase-like transcription factor, mRNA (cDNA clone IMAGE:3686165), partial cds.
S64671 - Homo sapiens DNA-binding protein/plasminogen activator inhibitor-1 regulator mRNA, partial cds.
BC014326 - Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3, mRNA (cDNA clone IMAGE:3950658), with apparent retained intron.
LF206083 - JP 2014500723-A/13586: Polycomb-Associated Non-Coding RNAs.
JD253456 - Sequence 234480 from Patent EP1572962.
MA441660 - JP 2018138019-A/13586: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q14527 (Reactome details) participates in the following event(s):

R-HSA-8943041 HLTF binds monoUb-K164-PCNA, RAD6:RAD18, UBE2V2:Ub:UBE2N
R-HSA-8866654 E3 ubiquitin ligases ubiquitinate target proteins
R-HSA-8852135 Protein ubiquitination
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: D3DNH3, ENST00000310053.1, ENST00000310053.2, ENST00000310053.3, ENST00000310053.4, ENST00000310053.5, ENST00000310053.6, ENST00000310053.7, ENST00000310053.8, ENST00000310053.9, HIP116A, HLTF_HUMAN, NM_139048, Q14527, Q14536, Q16051, Q7KYJ6, Q86YA5, Q92652, Q96KM9, RNF80, SMARCA3, SNF2L3, uc317ore.1, uc317ore.2, ZBU1
UCSC ID: ENST00000310053.10_12
RefSeq Accession: NM_003071.4
Protein: Q14527 (aka HLTF_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.