• Gene id: 6596

Gene Summary

• Gene Symbol: HLTF   Gene   UCSC   Ensembl
• Aliases: HIP116, HIP116A, HLTF1, RNF80, SMARCA3, SNF2L3, ZBU1
• Gene name: helicase like transcription factor
• Alternate names: helicase-like transcription factor, DNA-binding protein/plasminogen activator inhibitor-1 regulator, RING finger protein 80, RING-type E3 ubiquitin transferase HLTF, SNF2-like 3, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfa,
• Gene location: 3q24 (149086553: 149030062)     Exons: 25     NC_000003.12
• Gene summary(Entrez): 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
• OMIM: 603257

Protein Summary

• Protein general information: Q14527  
  • 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
  • Length: 1009  
  • Mass: 113929
  • Tissue specificity: Expressed in brain, heart, kidney, liver, lung, pancreas, placenta and skeletal muscle. {ECO
• Sequence:

  MSWMFKRDPVWKYLQTVQYGVHGNFPRLSYPTFFPRFEFQDVIPPDDFLTSDEEVDSVLFGSLRGHVVGLRYYTG
  VVNNNEMVALQRDPNNPYDKNAIKVNNVNGNQVGHLKKELAGALAYIMDNKLAQIEGVVPFGANNAFTMPLHMTF
  WGKEENRKAVSDQLKKHGFKLGPAPKTLGFNLESGWGSGRAGPSYSMPVHAAVQMTTEQLKTEFDKLFEDLKEDD
  KTHEMEPAEAIETPLLPHQKQALAWMVSRENSKELPPFWEQRNDLYYNTITNFSEKDRPENVHGGILADDMGLGK
  TLTAIAVILTNFHDGRPLPIERVKKNLLKKEYNVNDDSMKLGGNNTSEKADGLSKDASRCSEQPSISDIKEKSKF
  RMSELSSSRPKRRKTAVQYIESSDSEEIETSELPQKMKGKLKNVQSETKGRAKAGSSKVIEDVAFACALTSSVPT
  TKKKMLKKGACAVEGSKKTDVEERPRTTLIICPLSVLSNWIDQFGQHIKSDVHLNFYVYYGPDRIREPALLSKQD
  IVLTTYNILTHDYGTKGDSPLHSIRWLRVILDEGHAIRNPNAQQTKAVLDLESERRWVLTGTPIQNSLKDLWSLL
  SFLKLKPFIDREWWHRTIQRPVTMGDEGGLRRLQSLIKNITLRRTKTSKIKGKPVLELPERKVFIQHITLSDEER
  KIYQSVKNEGRATIGRYFNEGTVLAHYADVLGLLLRLRQICCHTYLLTNAVSSNGPSGNDTPEELRKKLIRKMKL
  ILSSGSDEECAICLDSLTVPVITHCAHVFCKPCICQVIQNEQPHAKCPLCRNDIHEDNLLECPPEELARDSEKKS
  DMEWTSSSKINALMHALTDLRKKNPNIKSLVVSQFTTFLSLIEIPLKASGFVFTRLDGSMAQKKRVESIQCFQNT
  EAGSPTIMLLSLKAGGVGLNLSAASRVFLMDPAWNPAAEDQCFDRCHRLGQKQEVIITKFIVKDSVEENMLKIQN
  KKRELAAGAFGTKKPNADEMKQAKINEIRTLIDL

• Structural information:
  • Protein Domains: (435..60-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (837..99-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542"-)
  • Interpro: IPR014001  IPR001650  IPR014905  IPR027417  IPR038718   IPR000330  IPR001841  IPR013083  IPR017907  
  • Prosite: PS51192 PS51194 PS00518 PS50089
  • PDB: 2MZN 4HRE 4HRH 4S0N 4XZF 4XZG 5BNH 5K5F
  • PDBsum: 2MZN 4HRE 4HRH 4S0N 4XZF 4XZG 5BNH 5K5F
  • DIP: 29828
  • STRING: ENSP00000308944
• Other Databases: GeneCards:  HLTF  Malacards:  HLTF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016818	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process
GO:0031625	ubiquitin protein ligase binding	IDA	molecular function
GO:0061630	ubiquitin protein ligase activity	EXP	molecular function
GO:0061630	ubiquitin protein ligase activity	EXP	molecular function
GO:0061630	ubiquitin protein ligase activity	EXP	molecular function
GO:0061630	ubiquitin protein ligase activity	EXP	molecular function
GO:0061630	ubiquitin protein ligase activity	EXP	molecular function
GO:0016567	protein ubiquitination	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0008094	DNA-dependent ATPase activity	IEA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0016020	membrane	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881