Homo sapiens (human): 641
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Entry
641 CDS
T01001
Symbol
BLM, BS, MGRISCE1, RECQ2, RECQL2, RECQL3
Name
(RefSeq) BLM RecQ like helicase
KO
K10901
bloom syndrome protein [EC:
5.6.2.4
]
Organism
hsa
Homo sapiens (human)
Pathway
hsa03440
Homologous recombination
hsa03460
Fanconi anemia pathway
Network
nt06506
Double-strand break repair
Element
N01446
DNA end resection and RPA loading
N01447
Double Holliday junction dissolution
N01449
Synthesis-dependent strand annealing
Disease
H00094
Immunodeficiency associated with DNA repair defects
H00296
Defects in RecQ helicases
H01346
Bloom syndrome
H02492
Microcephaly, growth restriction, and increased sister chromatid exchange
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09120 Genetic Information Processing
09124 Replication and repair
03440 Homologous recombination
641 (BLM)
03460 Fanconi anemia pathway
641 (BLM)
09180 Brite Hierarchies
09182 Protein families: genetic information processing
03032 DNA replication proteins [BR:
hsa03032
]
641 (BLM)
03400 DNA repair and recombination proteins [BR:
hsa03400
]
641 (BLM)
Enzymes [BR:
hsa01000
]
5. Isomerases
5.6 Isomerases altering macromolecular conformation
5.6.2 Enzymes altering nucleic acid conformation
5.6.2.4 DNA 3'-5' helicase
641 (BLM)
DNA replication proteins [BR:
hsa03032
]
Eukaryotic type
DNA Replication Termination Factors
Other termination factors
641 (BLM)
DNA repair and recombination proteins [BR:
hsa03400
]
Eukaryotic type
DSBR (double strand breaks repair)
HR (homologous recombination)
RecQ family DNA helicases
641 (BLM)
Bloom's syndrome complex (BTR)
641 (BLM)
FA (Fanconi anemia) pathway
641 (BLM)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
BLM_N
BDHCT_assoc
DEAD
BDHCT
Helicase_C
RecQ_Zn_bind
RQC
HRDC
ALMT
Motif
Other DBs
NCBI-GeneID:
641
NCBI-ProteinID:
NP_000048
OMIM:
604610
HGNC:
1058
Ensembl:
ENSG00000197299
UniProt:
P54132
Structure
PDB
PDBj
LinkDB
All DBs
Position
15:90717346..90816166
Genome browser
AA seq
1417 aa
AA seq
DB search
MAAVPQNNLQEQLERHSARTLNNKLSLSKPKFSGFTFKKKTSSDNNVSVTNVSVAKTPVL
RNKDVNVTEDFSFSEPLPNTTNQQRVKDFFKNAPAGQETQRGGSKSLLPDFLQTPKEVVC
TTQNTPTVKKSRDTALKKLEFSSSPDSLSTINDWDDMDDFDTSETSKSFVTPPQSHFVRV
STAQKSKKGKRNFFKAQLYTTNTVKTDLPPPSSESEQIDLTEEQKDDSEWLSSDVICIDD
GPIAEVHINEDAQESDSLKTHLEDERDNSEKKKNLEEAELHSTEKVPCIEFDDDDYDTDF
VPPSPEEIISASSSSSKCLSTLKDLDTSDRKEDVLSTSKDLLSKPEKMSMQELNPETSTD
CDARQISLQQQLIHVMEHICKLIDTIPDDKLKLLDCGNELLQQRNIRRKLLTEVDFNKSD
ASLLGSLWRYRPDSLDGPMEGDSCPTGNSMKELNFSHLPSNSVSPGDCLLTTTLGKTGFS
ATRKNLFERPLFNTHLQKSFVSSNWAETPRLGKKNESSYFPGNVLTSTAVKDQNKHTASI
NDLERETQPSYDIDNFDIDDFDDDDDWEDIMHNLAASKSSTAAYQPIKEGRPIKSVSERL
SSAKTDCLPVSSTAQNINFSESIQNYTDKSAQNLASRNLKHERFQSLSFPHTKEMMKIFH
KKFGLHNFRTNQLEAINAALLGEDCFILMPTGGGKSLCYQLPACVSPGVTVVISPLRSLI
VDQVQKLTSLDIPATYLTGDKTDSEATNIYLQLSKKDPIIKLLYVTPEKICASNRLISTL
ENLYERKLLARFVIDEAHCVSQWGHDFRQDYKRMNMLRQKFPSVPVMALTATANPRVQKD
ILTQLKILRPQVFSMSFNRHNLKYYVLPKKPKKVAFDCLEWIRKHHPYDSGIIYCLSRRE
CDTMADTLQRDGLAALAYHAGLSDSARDEVQQKWINQDGCQVICATIAFGMGIDKPDVRF
VIHASLPKSVEGYYQESGRAGRDGEISHCLLFYTYHDVTRLKRLIMMEKDGNHHTRETHF
NNLYSMVHYCENITECRRIQLLAYFGENGFNPDFCKKHPDVSCDNCCKTKDYKTRDVTDD
VKSIVRFVQEHSSSQGMRNIKHVGPSGRFTMNMLVDIFLGSKSAKIQSGIFGKGSAYSRH
NAERLFKKLILDKILDEDLYINANDQAIAYVMLGNKAQTVLNGNLKVDFMETENSSSVKK
QKALVAKVSQREEMVKKCLGELTEVCKSLGKVFGVHYFNIFNTVTLKKLAESLSSDPEVL
LQIDGVTEDKLEKYGAEVISVLQKYSEWTSPAEDSSPGISLSSSRGPGRSAAEELDEEIP
VSSHYFASKTRNERKRKKMPASQRSKRRKTASSGSKAKGGSATCRKISSKTKSSSIIGSS
SASHTSQATSGANSKLGIMAPPKPINRPFLKPSYAFS
NT seq
4254 nt
NT seq
+upstream
nt +downstream
nt
atggctgctgttcctcaaaataatctacaggagcaactagaacgtcactcagccagaaca
cttaataataaattaagtctttcaaaaccaaaattttcaggtttcacttttaaaaagaaa
acatcttcagataacaatgtatctgtaactaatgtgtcagtagcaaaaacacctgtatta
agaaataaagatgttaatgttaccgaagacttttccttcagtgaacctctacccaacacc
acaaatcagcaaagggtcaaggacttctttaaaaatgctccagcaggacaggaaacacag
agaggtggatcaaaatcattattgccagatttcttgcagactccgaaggaagttgtatgc
actacccaaaacacaccaactgtaaagaaatcccgggatactgctctcaagaaattagaa
tttagttcttcaccagattctttaagtaccatcaatgattgggatgatatggatgacttt
gatacttctgagacttcaaaatcatttgttacaccaccccaaagtcactttgtaagagta
agcactgctcagaaatcaaaaaagggtaagagaaacttttttaaagcacagctttataca
acaaacacagtaaagactgatttgcctccaccctcctctgaaagcgagcaaatagatttg
actgaggaacagaaggatgactcagaatggttaagcagcgatgtgatttgcatcgatgat
ggccccattgctgaagtgcatataaatgaagatgctcaggaaagtgactctctgaaaact
catttggaagatgaaagagataatagcgaaaagaagaagaatttggaagaagctgaatta
cattcaactgagaaagttccatgtattgaatttgatgatgatgattatgatacggatttt
gttccaccttctccagaagaaattatttctgcttcttcttcctcttcaaaatgccttagt
acgttaaaggaccttgacacctctgacagaaaagaggatgttcttagcacatcaaaagat
cttttgtcaaaacctgagaaaatgagtatgcaggagctgaatccagaaaccagcacagac
tgtgacgctagacagataagtttacagcagcagcttattcatgtgatggagcacatctgt
aaattaattgatactattcctgatgataaactgaaacttttggattgtgggaacgaactg
cttcagcagcggaacataagaaggaaacttctaacggaagtagattttaataaaagtgat
gccagtcttcttggctcattgtggagatacaggcctgattcacttgatggccctatggag
ggtgattcctgccctacagggaattctatgaaggagttaaatttttcacaccttccctca
aattctgtttctcctggggactgtttactgactaccaccctaggaaagacaggattctct
gccaccaggaagaatctttttgaaaggcctttattcaatacccatttacagaagtccttt
gtaagtagcaactgggctgaaacaccaagactaggaaaaaaaaatgaaagctcttatttc
ccaggaaatgttctcacaagcactgctgtgaaagatcagaataaacatactgcttcaata
aatgacttagaaagagaaacccaaccttcctatgatattgataattttgacatagatgac
tttgatgatgatgatgactgggaagacataatgcataatttagcagccagcaaatcttcc
acagctgcctatcaacccatcaaggaaggtcggccaattaaatcagtatcagaaagactt
tcctcagccaagacagactgtcttccagtgtcatctactgctcaaaatataaacttctca
gagtcaattcagaattatactgacaagtcagcacaaaatttagcatccagaaatctgaaa
catgagcgtttccaaagtcttagttttcctcatacaaaggaaatgatgaagatttttcat
aaaaaatttggcctgcataattttagaactaatcagctagaggcgatcaatgctgcactg
cttggtgaagactgttttatcctgatgccgactggaggtggtaagagtttgtgttaccag
ctccctgcctgtgtttctcctggggtcactgttgtcatttctcccttgagatcacttatc
gtagatcaagtccaaaagctgacttccttggatattccagctacatatctgacaggtgat
aagactgactcagaagctacaaatatttacctccagttatcaaaaaaagacccaatcata
aaacttctatatgtcactccagaaaagatctgtgcaagtaacagactcatttctactctg
gagaatctctatgagaggaagctcttggcacgttttgttattgatgaagcacattgtgtc
agtcagtggggacatgattttcgtcaagattacaaaagaatgaatatgcttcgccagaag
tttccttctgttccggtgatggctcttacggccacagctaatcccagggtacagaaggac
atcctgactcagctgaagattctcagacctcaggtgtttagcatgagctttaacagacat
aatctgaaatactatgtattaccgaaaaagcctaaaaaggtggcatttgattgcctagaa
tggatcagaaagcaccacccatatgattcagggataatttactgcctctccaggcgagaa
tgtgacaccatggctgacacgttacagagagatgggctcgctgctcttgcttaccatgct
ggcctcagtgattctgccagagatgaagtgcagcagaagtggattaatcaggatggctgt
caggttatctgtgctacaattgcatttggaatggggattgacaaaccggacgtgcgattt
gtgattcatgcatctctccctaaatctgtggagggttactaccaagaatctggcagagct
ggaagagatggggaaatatctcactgcctgcttttctatacctatcatgatgtgaccaga
ctgaaaagacttataatgatggaaaaagatggaaaccatcatacaagagaaactcacttc
aataatttgtatagcatggtacattactgtgaaaatataacggaatgcaggagaatacag
cttttggcctactttggtgaaaatggatttaatcctgatttttgtaagaaacacccagat
gtttcttgtgataattgctgtaaaacaaaggattataaaacaagagatgtgactgacgat
gtgaaaagtattgtaagatttgttcaagaacatagttcatcacaaggaatgagaaatata
aaacatgtaggtccttctggaagatttactatgaatatgctggtcgacattttcttgggg
agtaagagtgcaaaaatccagtcaggtatatttggaaaaggatctgcttattcacgacac
aatgccgaaagactttttaaaaagctgatacttgacaagattttggatgaagacttatat
atcaatgccaatgaccaggcgatcgcttatgtgatgctcggaaataaagcccaaactgta
ctaaatggcaatttaaaggtagactttatggaaacagaaaattccagcagtgtgaaaaaa
caaaaagcgttagtagcaaaagtgtctcagagggaagagatggttaaaaaatgtcttgga
gaacttacagaagtctgcaaatctctggggaaagtttttggtgtccattacttcaatatt
tttaataccgtcactctcaagaagcttgcagaatctttatcttctgatcctgaggttttg
cttcaaattgatggtgttactgaagacaaactggaaaaatatggtgcggaagtgatttca
gtattacagaaatactctgaatggacatcgccagctgaagacagttccccagggataagc
ctgtccagcagcagaggccccggaagaagtgccgctgaggagctcgacgaggaaataccc
gtatcttcccactactttgcaagtaaaaccagaaatgaaaggaagaggaaaaagatgcca
gcctcccaaaggtctaagaggagaaaaactgcttccagtggttccaaggcaaaggggggg
tctgccacatgtagaaagatatcttccaaaacgaaatcctccagcatcattggatccagt
tcagcctcacatacttctcaagcgacatcaggagccaatagcaaattggggattatggct
ccaccgaagcctataaatagaccgtttcttaagccttcatatgcattctcataa
DBGET
integrated database retrieval system
