• Gene id: 641

Gene Summary

• Gene Symbol: BLM   Gene   UCSC   Ensembl
• Aliases: BS, MGRISCE1, RECQ2, RECQL2, RECQL3
• Gene name: BLM RecQ like helicase
• Alternate names: Bloom syndrome protein, Bloom syndrome RecQ like helicase, Bloom syndrome, RecQ helicase-like, DNA helicase, RecQ-like type 2, recQ protein-like 3,
• Gene location: 15q26.1 (90717345: 90816165)     Exons: 25     NC_000015.10
• Gene summary(Entrez): The Bloom syndrome is an autosomal recessive disorder characterized by growth deficiency, microcephaly and immunodeficiency among others. It is caused by homozygous or compound heterozygous mutation in the gene encoding DNA helicase RecQ protein on chromo
• OMIM: 606061

SNPs

rs11135484

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.96886185A>G
NC_000005.9   g.96221889A>G
NG_027839.2   g.54799T>C
NG_051092.1   g.15247A>G|SEQ=[A/G]|GENE=ERAP1
ERAP2   64167

rs4680

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.19963748G>A
NC_000022.10   g.19951271G>A
NG_011526.1   g.27009G>A
NM_000754.4   c.472G>A
NM_000754.3   c.472G>A
NM_007310.3   c.322G>A
NM_007310.2   c.322G>A
NM_001362828.2   c.472G>A
NM_001362828.1   c.472G>A
NM_001135161.2   c.472G>A
NM_001135161.1   c.

rs2292596

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.422840C>G
NC_000005.10   g.422840C>T
NC_000005.9   g.422955C>G
NC_000005.9   g.422955C>T
NG_029834.2   g.123665C>G
NG_029834.2   g.123665C>T
NG_029834.1   g.123665C>G
NG_029834.1   g.123665C>T
NM_020731.4   c.565C>G
NM_020731.4   c.565C>T
NM_001242412.1  

Protein Summary

• Protein general information: P54132  
  • Name: Bloom syndrome protein (EC 3.6.4.12) (DNA helicase, RecQ like type 2) (RecQ2) (RecQ protein like 3)
  • Length: 1417  
  • Mass: 159000
• Sequence:

  MAAVPQNNLQEQLERHSARTLNNKLSLSKPKFSGFTFKKKTSSDNNVSVTNVSVAKTPVLRNKDVNVTEDFSFSE
  PLPNTTNQQRVKDFFKNAPAGQETQRGGSKSLLPDFLQTPKEVVCTTQNTPTVKKSRDTALKKLEFSSSPDSLST
  INDWDDMDDFDTSETSKSFVTPPQSHFVRVSTAQKSKKGKRNFFKAQLYTTNTVKTDLPPPSSESEQIDLTEEQK
  DDSEWLSSDVICIDDGPIAEVHINEDAQESDSLKTHLEDERDNSEKKKNLEEAELHSTEKVPCIEFDDDDYDTDF
  VPPSPEEIISASSSSSKCLSTLKDLDTSDRKEDVLSTSKDLLSKPEKMSMQELNPETSTDCDARQISLQQQLIHV
  MEHICKLIDTIPDDKLKLLDCGNELLQQRNIRRKLLTEVDFNKSDASLLGSLWRYRPDSLDGPMEGDSCPTGNSM
  KELNFSHLPSNSVSPGDCLLTTTLGKTGFSATRKNLFERPLFNTHLQKSFVSSNWAETPRLGKKNESSYFPGNVL
  TSTAVKDQNKHTASINDLERETQPSYDIDNFDIDDFDDDDDWEDIMHNLAASKSSTAAYQPIKEGRPIKSVSERL
  SSAKTDCLPVSSTAQNINFSESIQNYTDKSAQNLASRNLKHERFQSLSFPHTKEMMKIFHKKFGLHNFRTNQLEA
  INAALLGEDCFILMPTGGGKSLCYQLPACVSPGVTVVISPLRSLIVDQVQKLTSLDIPATYLTGDKTDSEATNIY
  LQLSKKDPIIKLLYVTPEKICASNRLISTLENLYERKLLARFVIDEAHCVSQWGHDFRQDYKRMNMLRQKFPSVP
  VMALTATANPRVQKDILTQLKILRPQVFSMSFNRHNLKYYVLPKKPKKVAFDCLEWIRKHHPYDSGIIYCLSRRE
  CDTMADTLQRDGLAALAYHAGLSDSARDEVQQKWINQDGCQVICATIAFGMGIDKPDVRFVIHASLPKSVEGYYQ
  ESGRAGRDGEISHCLLFYTYHDVTRLKRLIMMEKDGNHHTRETHFNNLYSMVHYCENITECRRIQLLAYFGENGF
  NPDFCKKHPDVSCDNCCKTKDYKTRDVTDDVKSIVRFVQEHSSSQGMRNIKHVGPSGRFTMNMLVDIFLGSKSAK
  IQSGIFGKGSAYSRHNAERLFKKLILDKILDEDLYINANDQAIAYVMLGNKAQTVLNGNLKVDFMETENSSSVKK
  QKALVAKVSQREEMVKKCLGELTEVCKSLGKVFGVHYFNIFNTVTLKKLAESLSSDPEVLLQIDGVTEDKLEKYG
  AEVISVLQKYSEWTSPAEDSSPGISLSSSRGPGRSAAEELDEEIPVSSHYFASKTRNERKRKKMPASQRSKRRKT
  ASSGSKAKGGSATCRKISSKTKSSSIIGSSSASHTSQATSGANSKLGIMAPPKPINRPFLKPSYAFS

• Structural information:
  • Protein Domains: (676..85-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541,-ECO:0000305|PubMed:24816114)
    (877..102-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542,-ECO:0000305|PubMed:24816114";)
  • Interpro: IPR012532  IPR032439  IPR032437  IPR011545  IPR002464   IPR004589  IPR014001  IPR001650  IPR010997  IPR002121  IPR027417  IPR032284  IPR018982  IPR036388  IPR036390  
  • Prosite: PS00690 PS51192 PS51194 PS50967
  • PDB: 2KV2 2MH9 2RRD 3WE2 3WE3 4CDG 4CGZ 4O3M 5LUP 5MK5 5U6K
  • PDBsum: 2KV2 2MH9 2RRD 3WE2 3WE3 4CDG 4CGZ 4O3M 5LUP 5MK5 5U6K
  • DIP: 33322
  • STRING: ENSP00000347232
• Other Databases: GeneCards:  BLM  Malacards:  BLM

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0044806	G-quadruplex DNA unwinding	IBA	biological process
GO:0009378	four-way junction helicase activity	IBA	molecular function
GO:0006310	DNA recombination	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005694	chromosome	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0000724	double-strand break repair via homologous recombination	IBA	biological process
GO:0043138	3'-5' DNA helicase activity	IBA	molecular function
GO:0032508	DNA duplex unwinding	IBA	biological process
GO:0006281	DNA repair	IBA	biological process
GO:0006268	DNA unwinding involved in DNA replication	IBA	biological process
GO:0000723	telomere maintenance	IBA	biological process
GO:0072757	cellular response to camptothecin	IDA	biological process
GO:0072711	cellular response to hydroxyurea	IDA	biological process
GO:0071479	cellular response to ionizing radiation	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0000729	DNA double-strand break processing	IDA	biological process
GO:0000228	nuclear chromosome	IDA	cellular component
GO:0003697	single-stranded DNA binding	IDA	molecular function
GO:0000400	four-way junction DNA binding	IDA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0008094	DNA-dependent ATPase activity	IDA	molecular function
GO:0003678	DNA helicase activity	IDA	molecular function
GO:0032508	DNA duplex unwinding	IDA	biological process
GO:0032508	DNA duplex unwinding	IDA	biological process
GO:0003678	DNA helicase activity	IDA	molecular function
GO:0008094	DNA-dependent ATPase activity	IDA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0051259	protein complex oligomerization	IDA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0061749	forked DNA-dependent helicase activity	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0051260	protein homooligomerization	IDA	biological process
GO:0005524	ATP binding	IDA	molecular function
GO:0000400	four-way junction DNA binding	IDA	molecular function
GO:0009378	four-way junction helicase activity	IDA	molecular function
GO:0003678	DNA helicase activity	IMP	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:0090329	regulation of DNA-dependent DNA replication	IMP	biological process
GO:0004386	helicase activity	IEA	molecular function
GO:0006260	DNA replication	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0043138	3'-5' DNA helicase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006310	DNA recombination	IEA	biological process
GO:0016818	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	IEA	molecular function
GO:0044237	cellular metabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0006260	DNA replication	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0003678	DNA helicase activity	IEA	molecular function
GO:1901796	regulation of signal transduction by p53 class mediator	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006260	DNA replication	TAS	biological process
GO:0006260	DNA replication	TAS	biological process
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: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: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:0061849	telomeric G-quadruplex DNA binding	IC	molecular function
GO:0051880	G-quadruplex DNA binding	IDA	molecular function
GO:0009378	four-way junction helicase activity	IDA	molecular function
GO:0000400	four-way junction DNA binding	IDA	molecular function
GO:0000403	Y-form DNA binding	IDA	molecular function
GO:0000405	bubble DNA binding	IDA	molecular function
GO:0061749	forked DNA-dependent helicase activity	IDA	molecular function
GO:0044806	G-quadruplex DNA unwinding	IDA	biological process
GO:0032508	DNA duplex unwinding	IDA	biological process
GO:0006260	DNA replication	ISS	biological process
GO:0044806	G-quadruplex DNA unwinding	ISS	biological process
GO:0005657	replication fork	ISS	cellular component
GO:0003678	DNA helicase activity	IDA	molecular function
GO:1905773	8-hydroxy-2'-deoxyguanosine DNA binding	IDA	molecular function
GO:0061821	telomeric D-loop binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0061820	telomeric D-loop disassembly	IDA	biological process
GO:0090656	t-circle formation	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0000733	DNA strand renaturation	IEA	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:0008094	DNA-dependent ATPase activity	IDA	molecular function
GO:0051880	G-quadruplex DNA binding	IDA	molecular function
GO:0042802	identical protein binding	IDA	molecular function
GO:0036310	annealing helicase activity	IDA	molecular function
GO:0009378	four-way junction helicase activity	IDA	molecular function
GO:0009378	four-way junction helicase activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0007095	mitotic G2 DNA damage checkpoint	IDA	biological process
GO:0031297	replication fork processing	IDA	biological process
GO:0003678	DNA helicase activity	IDA	molecular function
GO:0000781	chromosome, telomeric region	IDA	colocalizes with
GO:0016887	ATPase activity	IDA	molecular function
GO:0016605	PML body	IDA	cellular component
GO:0016605	PML body	IDA	colocalizes with
GO:0005524	ATP binding	IDA	molecular function
GO:0003697	single-stranded DNA binding	IDA	molecular function
GO:0016363	nuclear matrix	IDA	cellular component
GO:0010165	response to X-ray	IDA	biological process
GO:0004386	helicase activity	IDA	molecular function
GO:0005730	nucleolus	IDA	cellular component
GO:0004386	helicase activity	IDA	molecular function
GO:0004386	helicase activity	IDA	molecular function
GO:0004386	helicase activity	IDA	molecular function
GO:0000800	lateral element	IDA	cellular component
GO:0000405	bubble DNA binding	IDA	molecular function
GO:0051782	negative regulation of cell division	IMP	biological process
GO:0048478	replication fork protection	NAS	biological process
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000724	double-strand break repair via homologous recombination	NAS	biological process
GO:0045910	negative regulation of DNA recombination	IMP	biological process
GO:0006281	DNA repair	NAS	biological process
GO:0002039	p53 binding	IPI	molecular function
GO:0006310	DNA recombination	NAS	biological process
GO:0006310	DNA recombination	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000079	regulation of cyclin-dependent protein serine/threonine kinase activity	IMP	biological process
GO:0044806	G-quadruplex DNA unwinding	IBA	biological process
GO:0009378	four-way junction helicase activity	IBA	molecular function
GO:0006310	DNA recombination	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005694	chromosome	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0000724	double-strand break repair via homologous recombination	IBA	biological process
GO:0043138	3'-5' DNA helicase activity	IBA	molecular function
GO:0032508	DNA duplex unwinding	IBA	biological process
GO:0006281	DNA repair	IBA	biological process
GO:0006268	DNA unwinding involved in DNA replication	IBA	biological process
GO:0000723	telomere maintenance	IBA	biological process
GO:0072757	cellular response to camptothecin	IDA	biological process
GO:0072711	cellular response to hydroxyurea	IDA	biological process
GO:0071479	cellular response to ionizing radiation	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0000729	DNA double-strand break processing	IDA	biological process
GO:0000228	nuclear chromosome	IDA	cellular component
GO:0003697	single-stranded DNA binding	IDA	molecular function
GO:0000400	four-way junction DNA binding	IDA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0008094	DNA-dependent ATPase activity	IDA	molecular function
GO:0003678	DNA helicase activity	IDA	molecular function
GO:0032508	DNA duplex unwinding	IDA	biological process
GO:0032508	DNA duplex unwinding	IDA	biological process
GO:0003678	DNA helicase activity	IDA	molecular function
GO:0008094	DNA-dependent ATPase activity	IDA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0051259	protein complex oligomerization	IDA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0061749	forked DNA-dependent helicase activity	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0051260	protein homooligomerization	IDA	biological process
GO:0005524	ATP binding	IDA	molecular function
GO:0000400	four-way junction DNA binding	IDA	molecular function
GO:0009378	four-way junction helicase activity	IDA	molecular function
GO:0003678	DNA helicase activity	IMP	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:0090329	regulation of DNA-dependent DNA replication	IMP	biological process
GO:0004386	helicase activity	IEA	molecular function
GO:0006260	DNA replication	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0043138	3'-5' DNA helicase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006310	DNA recombination	IEA	biological process
GO:0016818	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	IEA	molecular function
GO:0044237	cellular metabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0006260	DNA replication	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0003678	DNA helicase activity	IEA	molecular function
GO:1901796	regulation of signal transduction by p53 class mediator	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006260	DNA replication	TAS	biological process
GO:0006260	DNA replication	TAS	biological process
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: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: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:0061849	telomeric G-quadruplex DNA binding	IC	molecular function
GO:0051880	G-quadruplex DNA binding	IDA	molecular function
GO:0009378	four-way junction helicase activity	IDA	molecular function
GO:0000400	four-way junction DNA binding	IDA	molecular function
GO:0000403	Y-form DNA binding	IDA	molecular function
GO:0000405	bubble DNA binding	IDA	molecular function
GO:0061749	forked DNA-dependent helicase activity	IDA	molecular function
GO:0044806	G-quadruplex DNA unwinding	IDA	biological process
GO:0032508	DNA duplex unwinding	IDA	biological process
GO:0006260	DNA replication	ISS	biological process
GO:0044806	G-quadruplex DNA unwinding	ISS	biological process
GO:0005657	replication fork	ISS	cellular component
GO:0003678	DNA helicase activity	IDA	molecular function
GO:1905773	8-hydroxy-2'-deoxyguanosine DNA binding	IDA	molecular function
GO:0061821	telomeric D-loop binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0061820	telomeric D-loop disassembly	IDA	biological process
GO:0090656	t-circle formation	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0000733	DNA strand renaturation	IEA	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:0008094	DNA-dependent ATPase activity	IDA	molecular function
GO:0051880	G-quadruplex DNA binding	IDA	molecular function
GO:0042802	identical protein binding	IDA	molecular function
GO:0036310	annealing helicase activity	IDA	molecular function
GO:0009378	four-way junction helicase activity	IDA	molecular function
GO:0009378	four-way junction helicase activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0007095	mitotic G2 DNA damage checkpoint	IDA	biological process
GO:0031297	replication fork processing	IDA	biological process
GO:0003678	DNA helicase activity	IDA	molecular function
GO:0000781	chromosome, telomeric region	IDA	colocalizes with
GO:0016887	ATPase activity	IDA	molecular function
GO:0016605	PML body	IDA	cellular component
GO:0016605	PML body	IDA	colocalizes with
GO:0005524	ATP binding	IDA	molecular function
GO:0003697	single-stranded DNA binding	IDA	molecular function
GO:0016363	nuclear matrix	IDA	cellular component
GO:0010165	response to X-ray	IDA	biological process
GO:0004386	helicase activity	IDA	molecular function
GO:0005730	nucleolus	IDA	cellular component
GO:0004386	helicase activity	IDA	molecular function
GO:0004386	helicase activity	IDA	molecular function
GO:0004386	helicase activity	IDA	molecular function
GO:0000800	lateral element	IDA	cellular component
GO:0000405	bubble DNA binding	IDA	molecular function
GO:0051782	negative regulation of cell division	IMP	biological process
GO:0048478	replication fork protection	NAS	biological process
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000724	double-strand break repair via homologous recombination	NAS	biological process
GO:0045910	negative regulation of DNA recombination	IMP	biological process
GO:0006281	DNA repair	NAS	biological process
GO:0002039	p53 binding	IPI	molecular function
GO:0006310	DNA recombination	NAS	biological process
GO:0006310	DNA recombination	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000079	regulation of cyclin-dependent protein serine/threonine kinase activity	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa03460	Fanconi anemia pathway
hsa03440	Homologous recombination

Diseases

Associated diseases	References
Immunodeficiency associated with DNA repair defects	KEGG:H00094
Defects in RecQ helicases	KEGG:H00296
Bloom syndrome	KEGG:H01346
Immunodeficiency associated with DNA repair defects	KEGG:H00094
Bloom syndrome	KEGG:H01346
Bloom syndrome	PMID:9388480
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray