CleftGeneDB-Search

Gene: Blm

Basic information

Tag	Content
Uniprot ID	O88700; O88198;
Entrez ID	12144
Genbank protein ID	CAB10933.1; BAA32001.1;
Genbank nucleotide ID	NM_007550.4; NM_001042527.2;
Ensembl protein ID	ENSMUSP00000080062
Ensembl nucleotide ID	ENSMUSG00000030528
Gene name	Bloom syndrome protein homolog
Gene symbol	Blm
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	ATP-dependent DNA helicase that unwinds single- and double-stranded DNA in a 3'-5' direction (PubMed:9840919). Participates in DNA replication and repair (By similarity). Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA (PubMed:9840919). Negatively regulates sister chromatid exchange (SCE) (PubMed:9840919, PubMed:27010503). Stimulates DNA 4-way junction branch migration and DNA Holliday junction dissolution. Binds single-stranded DNA (ssDNA), forked duplex DNA and DNA Holliday junction (By similarity).
Sequence	MAAVPLNNLQ EQLQRHSARK LNNQPSLSKP KSLGFTFKKK TSEGDVSVTS VSVVKTPALS 60 DKDVNVSEAF SFTESPLHKP KQQAKIEGFF KHFPGRQQSK GTCSEPSLPA TVQTAQDTLC 120 TTPKTPTAKK LPVAVFKKLE FSSSADSLSD WADMDDFDMS ASDAFASLAK NPATRVSTAQ 180 KMKKTKRNFF KPPPRKANAV KTDLTPPSPE CLQVDLTKES EEEEEEEEEA EGADCLSRDV 240 ICIDNDSASE ELTEKDTQES QSLKAHLGAE RGDSEKKSHE DEAVFHSVQN TEYFEHNDND 300 YDIDFVPPSP EEIISTASSS LKCSSMLKDL DDSDKEKGIL STSEELLSKP EEMTTHKSDA 360 GTSKDCDAQQ IRIQQQLIHV MEHICKLVDT VPTDELEALN CGTELLQQRN IRRKLLAEAG 420 FNGNDVRLLG SLWRHRPDSL DNTVQGDSCP VGHPNKELNS PYLLSHSPST EECLPTTTPG 480 KTGFSATPKN LFERPLLNSH LQKSFVSSNW AETPRMENRN ESTDFPGSVL TSTTVKAQSK 540 QAASGWNVER HGQASYDIDN FNIDDFDDDD DDDDWENIMH NFPASKSSTA TYPPIKEGGP 600 VKSLSERISS AKAKFLPVVS TAQNTNLSES IQNCSDKLAQ NLSSKNPKHE HFQSLNFPHT 660 KEMMKIFHKK FGLHNFRTNQ LEAINAALLG EDCFILMPTG GGKSLCYQLP ACVSPGVTIV 720 ISPLRSLIVD QVQKLTSFDI PATYLTGDKT DSEAANIYLQ LSKKDPIIKL LYVTPEKVCA 780 SNRLISTLEN LYERKLLARF VIDEAHCVSQ WGHDFRQDYK RMNMLRQKFP SVPVMALTAT 840 ANPRVQKDIL TQLKILRPQV FSMSFNRHNL KYYVLPKKPK KVAFDCLEWI RKHHPYDSGI 900 IYCLSRRECD TMADTLQREG LAALAYHAGL SDSARDEVQH KWINQDNCQV ICATIAFGMG 960 IDKPDVRFVI HASLPKSMEG YYQESGRAGR DGEISHCVLF YTYHDVTRLK RLIMMEKDGN 1020 YHTKETHVNN LYSMVHYCEN ITECRRIQLL AYFGEKGFNP DFCKKYPDVS CDNCCKTKDY 1080 KTKDVTDDVK NIIRFVQEHS SSPGTRNIGP AGRFTLNMLV DIFLGSKSAK VKSGIFGKGT 1140 TYSRHNAERL FKKLILDKIL DEDLYINAND QPIAYVMLGT KAHSVLSGHL KVDFMETENS 1200 SSIKKQKALV AKVSQREEVV KKCLGELTEV CKLLGKVFGV HYFNIFNTAT LKKLAESLSS 1260 DPEVLLQIDG VTEDKLEKYG AEVIPVLQKY SEWTVPAEDG SPGARGAPED TEEEEEEAPV 1320 SSHYFANQTR NERKRKKMSA THKPKRRRTS YGGFRAKGGS TTCRKTTSKS KFYGVTGSRS 1380 ASCASQATSS ASRKLGIMAP PKPVNRTFLR PSYAFS 1416

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Show entries

Search:

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	BLM	641	P54132	CL/P	Homo sapiens	Publication	More>>
1:1 ortholog	BLM	100685609	E2RS76		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	BLM		A0A452E3H5		Capra hircus	Prediction	More>>
1:1 ortholog	Blm	12144	O88700		Mus musculus	Prediction	More>>
1:1 ortholog	BLM		A0A2I3SP55		Pan troglodytes	Prediction	More>>
1:1 ortholog	BLM		A0A5G2R540		Sus scrofa	Prediction	More>>
1:1 ortholog	BLM	100345123	G1T6H2		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Blm		D3ZQW1		Rattus norvegicus	Prediction	More>>

Showing 1 to 8 of 8 entries

Previous1Next

Other genetic variants/mutations

Show entries

Search:

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs33214661	p.Cys103Arg	missense variant	-	NC_000073.6:g.80513286A>G	UniProt
rs252429562	p.Ala128Val	missense variant	-	NC_000073.6:g.80513210G>A	UniProt
rs32142074	p.Leu131Pro	missense variant	-	NC_000073.6:g.80513201A>G	UniProt
rs266198609	p.Val133Met	missense variant	-	NC_000073.6:g.80513196C>T	UniProt
rs33214659	p.Lys170Glu	missense variant	-	NC_000073.6:g.80513085T>C	UniProt
rs238407239	p.Asn198Ser	missense variant	-	NC_000073.6:g.80513000T>C	UniProt
rs222661228	p.Pro209Thr	missense variant	-	NC_000073.6:g.80512968G>T	UniProt
rs864278986	p.Leu212Gln	missense variant	-	NC_000073.6:g.80512958A>T	UniProt
rs584604272	p.Ala233Thr	missense variant	-	NC_000073.6:g.80512896C>T	UniProt
rs33214658	p.Asp239Glu	missense variant	-	NC_000073.6:g.80512876A>T	UniProt
rs33212681	p.Gly338Asp	missense variant	-	NC_000073.6:g.80505908C>T	UniProt
rs33212680	p.Ser363Asn	missense variant	-	NC_000073.6:g.80505833C>T	UniProt
rs33210872	p.Val391Ile	missense variant	-	NC_000073.6:g.80503304C>T	UniProt
rs248095622	p.Glu397Lys	missense variant	-	NC_000073.6:g.80503286C>T	UniProt
rs256324812	p.Ser431Phe	missense variant	-	NC_000073.6:g.80502897G>A	UniProt
rs259510230	p.Pro488Gln	missense variant	-	NC_000073.6:g.80502726G>T	UniProt
rs8248433	p.Val535Met	missense variant	-	NC_000073.6:g.80502586C>T	UniProt
rs8248435	p.Trp546Leu	missense variant	-	NC_000073.6:g.80502552C>A	UniProt
rs8248436	p.Trp546Cys	missense variant	-	NC_000073.6:g.80502551C>A	UniProt
rs8248434	p.Trp546Arg	missense variant	-	NC_000073.6:g.80502553A>G	UniProt

Showing 1 to 20 of 37 entries

Previous1 2Next

Gene Ontology (GO)/biological pathways

GO:Molecular Function

Show entries

Search:

GO ID	GO Term	Evidence
GO:0000400	four-way junction DNA binding	ISS
GO:0000400	four-way junction DNA binding	ISO
GO:0000403	Y-form DNA binding	ISO
GO:0000405	bubble DNA binding	ISO
GO:0002039	p53 binding	ISO
GO:0003677	DNA binding	ISS
GO:0003677	DNA binding	ISO
GO:0003678	DNA helicase activity	ISS
GO:0003678	DNA helicase activity	ISO
GO:0003697	single-stranded DNA binding	ISS
GO:0003697	single-stranded DNA binding	ISO
GO:0004386	helicase activity	ISO
GO:0005515	protein binding	IPI
GO:0005524	ATP binding	ISS
GO:0005524	ATP binding	ISO
GO:0008094	DNA-dependent ATPase activity	ISO
GO:0008270	zinc ion binding	ISS
GO:0008270	zinc ion binding	ISO
GO:0009378	four-way junction helicase activity	ISS
GO:0009378	four-way junction helicase activity	ISO

Showing 1 to 20 of 32 entries

Previous1 2Next

GO:Biological Process

Show entries

Search:

GO ID	GO Term	Evidence
GO:0000079	regulation of cyclin-dependent protein serine/threonine kinase activity	ISO
GO:0000723	telomere maintenance	IGI
GO:0000723	telomere maintenance	IBA
GO:0000724	double-strand break repair via homologous recombination	IBA
GO:0000729	DNA double-strand break processing	ISS
GO:0000729	DNA double-strand break processing	ISO
GO:0000733	DNA strand renaturation	IEA
GO:0006260	DNA replication	IGI
GO:0006260	DNA replication	IMP
GO:0006268	DNA unwinding involved in DNA replication	IBA
GO:0006281	DNA repair	IDA
GO:0006281	DNA repair	IBA
GO:0006310	DNA recombination	IBA
GO:0006974	cellular response to DNA damage stimulus	ISS
GO:0006974	cellular response to DNA damage stimulus	ISO
GO:0007095	mitotic G2 DNA damage checkpoint	ISO
GO:0010165	response to X-ray	ISO
GO:0031297	replication fork processing	ISO
GO:0032508	DNA duplex unwinding	ISO
GO:0032508	DNA duplex unwinding	IBA

Showing 1 to 20 of 51 entries

Previous1 2 3Next

GO:Cellular Component

Show entries

Search:

GO ID	GO Term	Evidence
GO:0000228	nuclear chromosome	ISS
GO:0000228	nuclear chromosome	ISO
GO:0000781	chromosome, telomeric region	IMP
GO:0000781	chromosome, telomeric region	ISO
GO:0000800	lateral element	ISO
GO:0001673	male germ cell nucleus	IDA
GO:0005634	nucleus	ISO
GO:0005634	nucleus	IBA
GO:0005654	nucleoplasm	ISO
GO:0005654	nucleoplasm	TAS
GO:0005657	replication fork	IDA
GO:0005657	replication fork	IMP
GO:0005694	chromosome	IBA
GO:0005730	nucleolus	ISO
GO:0005737	cytoplasm	IDA
GO:0005737	cytoplasm	IBA
GO:0005829	cytosol	ISO
GO:0016363	nuclear matrix	ISO
GO:0016605	PML body	ISO
GO:0045120	pronucleus	IDA

Showing 1 to 20 of 20 entries

Previous1Next

Reactome Pathway

Show entries

Search:

Reactome ID	Reactome Term	Evidence
R-MMU-1640170	Cell Cycle	IEA
R-MMU-212436	Generic Transcription Pathway	IEA
R-MMU-2990846	SUMOylation	IEA
R-MMU-3108214	SUMOylation of DNA damage response and repair proteins	IEA
R-MMU-3108232	SUMO E3 ligases SUMOylate target proteins	IEA
R-MMU-3700989	Transcriptional Regulation by TP53	IEA
R-MMU-392499	Metabolism of proteins	IEA
R-MMU-5633007	Regulation of TP53 Activity	IEA
R-MMU-5685938	HDR through Single Strand Annealing (SSA)	IEA
R-MMU-5685942	HDR through Homologous Recombination (HRR)	IEA
R-MMU-5693532	DNA Double-Strand Break Repair	IEA
R-MMU-5693537	Resolution of D-Loop Structures	IEA
R-MMU-5693538	Homology Directed Repair	IEA
R-MMU-5693554	Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)	IEA
R-MMU-5693567	HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)	IEA
R-MMU-5693568	Resolution of D-loop Structures through Holliday Junction Intermediates	IEA
R-MMU-5693579	Homologous DNA Pairing and Strand Exchange	IEA
R-MMU-5693607	Processing of DNA double-strand break ends	IEA
R-MMU-5693616	Presynaptic phase of homologous DNA pairing and strand exchange	IEA
R-MMU-597592	Post-translational protein modification	IEA

Showing 1 to 20 of 27 entries

Previous1 2Next

Functional annotations

Keywords

Show entries

Search:

Keyword ID	Keyword Term
KW-0007	Acetylation
KW-0067	ATP-binding
KW-0227	DNA damage
KW-0234	DNA repair
KW-0235	DNA replication
KW-0238	DNA-binding
KW-0347	Helicase
KW-0378	Hydrolase
KW-0479	Metal-binding
KW-0539	Nucleus
KW-0547	Nucleotide-binding
KW-0597	Phosphoprotein
KW-0832	Ubl conjugation
KW-0862	Zinc
KW-1017	Isopeptide bond
KW-1185	Reference proteome

Showing 1 to 16 of 16 entries

Previous1Next

Interpro

Show entries

Search:

InterPro ID	InterPro Term
IPR001650	Helicase_C
IPR002121	HRDC_dom
IPR002464	DNA/RNA_helicase_DEAH_CS
IPR004589	DNA_helicase_ATP-dep_RecQ
IPR010997	HRDC-like_sf
IPR011545	DEAD/DEAH_box_helicase_dom
IPR012532	BDHCT
IPR014001	Helicase_ATP-bd
IPR018982	RQC_domain
IPR027417	P-loop_NTPase

Showing 1 to 10 of 15 entries

Previous1 2Next

PROSITE

Show entries

Search:

PROSITE ID	PROSITE Term
PS00690	DEAH_ATP_HELICASE
PS50967	HRDC
PS51192	HELICASE_ATP_BIND_1
PS51194	HELICASE_CTER

Showing 1 to 4 of 4 entries

Previous1Next

Pfam

Show entries

Search:

Pfam ID	Pfam Term
PF00270	DEAD
PF00271	Helicase_C
PF00570	HRDC
PF08072	BDHCT
PF09382	RQC
PF16124	RecQ_Zn_bind
PF16202	BLM_N
PF16204	BDHCT_assoc

Showing 1 to 8 of 8 entries

Previous1Next

Gene: Blm

Basic information

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction