Gene Gene information from NCBI Gene database.
Entrez ID 6596
Gene name Helicase like transcription factor
Gene symbol HLTF
Synonyms (NCBI Gene)
HIP116HIP116AHLTF1RNF80SMARCA3SNF2L3ZBU1
Chromosome 3
Chromosome location 3q24
Summary 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
miRNA miRNA information provided by mirtarbase database.
205
miRTarBase ID miRNA Experiments Reference
MIRT021505 hsa-miR-145-5p Reporter assay;Microarray 21351259
MIRT708805 hsa-miR-3664-5p HITS-CLIP 19536157
MIRT708804 hsa-miR-6758-3p HITS-CLIP 19536157
MIRT708803 hsa-miR-4742-3p HITS-CLIP 19536157
MIRT708802 hsa-miR-4263 HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
PGR Activation 12890680
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
47
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000209 Process Protein polyubiquitination IDA 18316726, 18719106
GO:0003676 Function Nucleic acid binding IEA
GO:0003677 Function DNA binding IEA
GO:0003697 Function Single-stranded DNA binding IDA 26051180
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603257 11099 ENSG00000071794
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14527
Protein name Helicase-like transcription factor (EC 2.3.2.27) (EC 3.6.4.-) (DNA-binding protein/plasminogen activator inhibitor 1 regulator) (HIP116) (RING finger protein 80) (RING-type E3 ubiquitin transferase HLTF) (SWI/SNF-related matrix-associated actin-dependent
Protein 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). Thes
PDB 2MZN , 4HRE , 4HRH , 4S0N , 4XZF , 4XZG , 5BNH , 5K5F , 6KCS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08797 HIRAN 60 154 HIRAN domain Domain
PF00176 SNF2_N 243 722 SNF2 family N-terminal domain Family
PF13923 zf-C3HC4_2 759 800 Domain
PF00271 Helicase_C 833 950 Helicase conserved C-terminal domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, heart, kidney, liver, lung, pancreas, placenta and skeletal muscle. {ECO:0000269|PubMed:8672239, ECO:0000269|PubMed:9126292}.
Sequence
MSWMFKRDPVWKYLQTVQYGVHGNFPRLSYPTFFPRFEFQDVIPPDDFLTSDEEVDSVLF
GSLRGHVVGLRYYTGVVNNNEMVALQRDPNNPYDKNAIKVNNVNGNQVGHLKKELAGALA
YIMDNKLAQIEGVVPFGANNAFTMPLHMTFWGKE
ENRKAVSDQLKKHGFKLGPAPKTLGF
NLESGWGSGRAGPSYSMPVHAAVQMTTEQLKTEFDKLFEDLKEDDKTHEMEPAEAIETPL
LPHQKQALAWMVSRENSKELPPFWEQRNDLYYNTITNFSEKDRPENVHGGILADDMGLGK
TLTAIAVILTNFHDGRPLPIERVKKNLLKKEYNVNDDSMKLGGNNTSEKADGLSKDASRC
SEQPSISDIKEKSKFRMSELSSSRPKRRKTAVQYIESSDSEEIETSELPQKMKGKLKNVQ
SETKGRAKAGSSKVIEDVAFACALTSSVPTTKKKMLKKGACAVEGSKKTDVEERPRTTLI
ICPLSVLSNWIDQFGQHIKSDVHLNFYVYYGPDRIREPALLSKQDIVLTTYNILTHDYGT
KGDSPLHSIRWLRVILDEGHAIRNPNAQQTKAVLDLESERRWVLTGTPIQNSLKDLWSLL
SFLKLKPFIDREWWHRTIQRPVTMGDEGGLRRLQSLIKNITLRRTKTSKIKGKPVLELPE
RKVFIQHITLSDEERKIYQSVKNEGRATIGRYFNEGTVLAHYADVLGLLLRLRQICCHTY
LL
TNAVSSNGPSGNDTPEELRKKLIRKMKLILSSGSDEECAICLDSLTVPVITHCAHVFC
KPCICQVIQNEQPHAKCPLC
RNDIHEDNLLECPPEELARDSEKKSDMEWTSSSKINALMH
ALTDLRKKNPNIKSLVVSQFTTFLSLIEIPLKASGFVFTRLDGSMAQKKRVESIQCFQNT
EAGSPTIMLLSLKAGGVGLNLSAASRVFLMDPAWNPAAEDQCFDRCHRLG
QKQEVIITKF
IVKDSVEENMLKIQNKKRELAAGAFGTKKPNADEMKQAKINEIRTLIDL
Sequence length 1009
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    E3 ubiquitin ligases ubiquitinate target proteins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 29661164
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 22452792
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 16181380
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 19948885, 36822623 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 12584739, 22452792
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36822623 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 29661164
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 29661164 Associate
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 20535496
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 20535496
★☆☆☆☆
Found in Text Mining only