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BLM Bloom syndrome, RecQ helicase-like [ Homo sapiens (human) ]

Gene ID: 641, updated on 23-Sep-2014
Official Symbol
BLMprovided by HGNC
Official Full Name
Bloom syndrome, RecQ helicase-likeprovided by HGNC
Primary source
HGNC:HGNC:1058
See related
Ensembl:ENSG00000197299; HPRD:05211; MIM:604610; Vega:OTTHUMG00000149834
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BS; RECQ2; RECQL2; RECQL3
Summary
The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008]
Location:
15q26.1
Exon count:
24
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 15 NC_000015.10 (90717327..90815462)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (91260579..91358686)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene CREB regulated transcription coactivator 3 Neighboring gene uncharacterized LOC101926895 Neighboring gene heat shock 10kDa protein 1 pseudogene 3 Neighboring gene uncharacterized LOC101929765 Neighboring gene furin (paired basic amino acid cleaving enzyme) Neighboring gene FES proto-oncogene, tyrosine kinase

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC126616, MGC131618, MGC131620

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
ATP-dependent 3'-5' DNA helicase activity IEA
Inferred from Electronic Annotation
more info
 
ATP-dependent DNA helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
ATP-dependent DNA helicase activity IMP
Inferred from Mutant Phenotype
more info
 
ATP-dependent helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
G-quadruplex DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
annealing helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
bubble DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
four-way junction helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
p53 binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
single-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
ATP catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
ATP catabolic process IEA
Inferred from Electronic Annotation
more info
 
DNA double-strand break processing IDA
Inferred from Direct Assay
more info
 
DNA duplex unwinding IDA
Inferred from Direct Assay
more info
PubMed 
DNA duplex unwinding IEA
Inferred from Electronic Annotation
more info
 
DNA duplex unwinding IMP
Inferred from Mutant Phenotype
more info
 
DNA recombination NAS
Non-traceable Author Statement
more info
PubMed 
DNA repair NAS
Non-traceable Author Statement
more info
PubMed 
DNA strand renaturation IDA
Inferred from Direct Assay
more info
PubMed 
alpha-beta T cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
 
cellular response to DNA damage stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to camptothecin IDA
Inferred from Direct Assay
more info
 
cellular response to hydroxyurea IDA
Inferred from Direct Assay
more info
 
cellular response to ionizing radiation IDA
Inferred from Direct Assay
more info
 
double-strand break repair via homologous recombination NAS
Non-traceable Author Statement
more info
PubMed 
mitotic G2 DNA damage checkpoint IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of DNA recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell division IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of mitotic recombination IEA
Inferred from Electronic Annotation
more info
 
negative regulation of thymocyte apoptotic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of alpha-beta T cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
protein oligomerization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of binding IEA
Inferred from Electronic Annotation
more info
 
regulation of cyclin-dependent protein serine/threonine kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
replication fork processing IDA
Inferred from Direct Assay
more info
PubMed 
replication fork protection NAS
Non-traceable Author Statement
more info
PubMed 
response to X-ray IDA
Inferred from Direct Assay
more info
PubMed 
telomere maintenance IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
PML body IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with PML body IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
lateral element IDA
Inferred from Direct Assay
more info
PubMed 
male germ cell nucleus IEA
Inferred from Electronic Annotation
more info
 
nuclear chromosome IDA
Inferred from Direct Assay
more info
 
nuclear matrix IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
pronucleus IEA
Inferred from Electronic Annotation
more info
 
replication fork IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
Bloom syndrome protein
Names
Bloom syndrome protein
recQ protein-like 3
DNA helicase, RecQ-like type 2
NP_000048.1
NP_001274175.1
NP_001274176.1
NP_001274177.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007272.1 

    Range
    4957..103091
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_20

mRNA and Protein(s)

  1. NM_000057.3NP_000048.1  Bloom syndrome protein isoform 1

    See proteins identical to NP_000048.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest protein (isoform 1). Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC124248, BC034480, BC062697, BC115030, CD707743, U39817
    Consensus CDS
    CCDS10363.1
    UniProtKB/Swiss-Prot
    P54132
    Related
    ENSP00000347232, OTTHUMP00000194750, ENST00000355112, OTTHUMT00000313495
    Conserved Domains (7) summary
    pfam08072
    Location:371411
    BDHCT; BDHCT (NUC031) domain
    smart00341
    Location:12131292
    HRDC; Helicase and RNase D C-terminal
    TIGR00614
    Location:6571143
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd00046
    Location:683832
    DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
    cd00079
    Location:861992
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam09382
    Location:10761181
    RQC; RQC domain
    pfam15237
    Location:190274
    PTRF_SDPR; PTRF/SDPR family
  2. NM_001287246.1NP_001274175.1  Bloom syndrome protein isoform 1

    See proteins identical to NP_001274175.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein (isoform 1).
    Source sequence(s)
    AC124248, BC115032, BC143288, BP363946, CD707743, DB520927
    Consensus CDS
    CCDS10363.1
    UniProtKB/Swiss-Prot
    P54132
    Conserved Domains (7) summary
    pfam08072
    Location:371411
    BDHCT; BDHCT (NUC031) domain
    smart00341
    Location:12131292
    HRDC; Helicase and RNase D C-terminal
    TIGR00614
    Location:6571143
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd00046
    Location:683832
    DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
    cd00079
    Location:861992
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam09382
    Location:10761181
    RQC; RQC domain
    pfam15237
    Location:190274
    PTRF_SDPR; PTRF/SDPR family
  3. NM_001287247.1NP_001274176.1  Bloom syndrome protein isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame exons in the 3' coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
    Source sequence(s)
    AC124248, BC062697, BC101567, BC115028, CD707743, DB520927
    Consensus CDS
    CCDS73782.1
    UniProtKB/TrEMBL
    H0YNU5
    UniProtKB/Swiss-Prot
    P54132
    Related
    ENSP00000454158, OTTHUMP00000248161, ENST00000560509, OTTHUMT00000417940
    Conserved Domains (6) summary
    pfam08072
    Location:371411
    BDHCT; BDHCT (NUC031) domain
    TIGR00614
    Location:6571123
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd00046
    Location:683832
    DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
    cd00079
    Location:861992
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam15237
    Location:190274
    PTRF_SDPR; PTRF/SDPR family
    cl02578
    Location:11091161
    HRDC; HRDC domain
  4. NM_001287248.1NP_001274177.1  Bloom syndrome protein isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in a 5' exon and uses a downstream translation start compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC021422, AC124248, BC062697, BC115032, BC143280, CD707743, DA122319, DB520927
    UniProtKB/TrEMBL
    B7ZKN7
    UniProtKB/Swiss-Prot
    P54132
    Conserved Domains (6) summary
    pfam08072
    Location:136
    BDHCT; BDHCT (NUC031) domain
    smart00341
    Location:838917
    HRDC; Helicase and RNase D C-terminal
    TIGR00614
    Location:282768
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd00046
    Location:308457
    DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
    cd00079
    Location:486617
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam09382
    Location:701806
    RQC; RQC domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000015.10 

    Range
    90717327..90815462
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006720632.1XP_006720695.1  

    Conserved Domains (5) summary
    smart00341
    Location:559638
    HRDC; Helicase and RNase D C-terminal
    TIGR00614
    Location:3489
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd00046
    Location:29178
    DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
    cd00079
    Location:207338
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam09382
    Location:422527
    RQC; RQC domain

Alternate HuRef

Genomic

  1. AC_000147.1 

    Range
    67371942..67470524
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 

    Range
    91102285..91200349
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)