Bloom syndrome protein
Encyclopedia
Bloom syndrome protein is a protein
that in humans is encoded by the BLM gene
and is expressed in Bloom syndrome
.
The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicase
s 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 homologous recombination
.
with CHEK1
, Replication protein A1, Werner syndrome ATP-dependent helicase, RAD51L3
, Ataxia telangiectasia mutated
, RAD51
, XRCC2
, Flap structure-specific endonuclease 1
, H2AFX
, TP53BP1
, P53
, TOP3A
, MLH1
and CHAF1A
.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the BLM gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
and is expressed in Bloom syndrome
Bloom syndrome
Bloom's syndrome , also known as Bloom–Torre–Machacek syndrome, is a rare autosomal recessive chromosomal disorder characterized by a high frequency of breaks and rearrangements in an affected person's chromosomes. The condition was discovered and first described by dermatologist Dr...
.
The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicase
Helicase
Helicases are a class of enzymes vital to all living organisms. They are motor proteins that move directionally along a nucleic acid phosphodiester backbone, separating two annealed nucleic acid strands using energy derived from ATP hydrolysis.-Function:Many cellular processes Helicases are a...
s and has both DNA-stimulated ATPase
ATPase
ATPases are a class of enzymes that catalyze the decomposition of adenosine triphosphate into adenosine diphosphate and a free phosphate ion. This dephosphorylation reaction releases energy, which the enzyme harnesses to drive other chemical reactions that would not otherwise occur...
and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome
Bloom syndrome
Bloom's syndrome , also known as Bloom–Torre–Machacek syndrome, is a rare autosomal recessive chromosomal disorder characterized by a high frequency of breaks and rearrangements in an affected person's chromosomes. The condition was discovered and first described by dermatologist Dr...
delete or alter helicase motifs and may disable the 3' → 5' helicase activity. The normal protein may act to suppress inappropriate homologous recombination
Homologous recombination
Homologous recombination is a type of genetic recombination in which nucleotide sequences are exchanged between two similar or identical molecules of DNA. It is most widely used by cells to accurately repair harmful breaks that occur on both strands of DNA, known as double-strand breaks...
.
Interactions
Bloom syndrome protein has been shown to interactProtein-protein interaction
Protein–protein interactions occur when two or more proteins bind together, often to carry out their biological function. Many of the most important molecular processes in the cell such as DNA replication are carried out by large molecular machines that are built from a large number of protein...
with CHEK1
CHEK1
Serine/threonine-protein kinase Chk1 is an enzyme that in humans is encoded by the CHEK1 gene.Chk1 is a kinase that phosphorylates cdc25, an important phosphatase in cell cycle control, particularly for entry into mitosis. Cdc25, when phosphorylated on serine 216 by chk1 becomes bound by an adaptor...
, Replication protein A1, Werner syndrome ATP-dependent helicase, RAD51L3
RAD51L3
DNA repair protein RAD51 homolog 4 is a protein that in humans is encoded by the RAD51L3 gene.-Interactions:RAD51L3 has been shown to interact with XRCC2, Bloom syndrome protein and RAD51C.-Further reading:...
, Ataxia telangiectasia mutated
Ataxia telangiectasia mutated
Ataxia telangiectasia mutated is a serine/threonine protein kinase that is recruited and activated by DNA double-strand breaks. It phosphorylates several key proteins that initiate activation of the DNA damage checkpoint, leading to cell cycle arrest, DNA repair or apoptosis...
, RAD51
RAD51
RAD51 is a human gene. The protein encoded by this gene is a member of the RAD51 protein family which assist in repair of DNA double strand breaks. RAD51 family members are homologous to the bacterial RecA and yeast Rad51...
, XRCC2
XRCC2
DNA repair protein XRCC2 is a protein that in humans is encoded by the XRCC2 gene.-Interactions:XRCC2 has been shown to interact with RAD51L3, Bloom syndrome protein and RAD51C.-Further reading:...
, Flap structure-specific endonuclease 1
Flap structure-specific endonuclease 1
Flap endonuclease 1 is an enzyme that in humans is encoded by the FEN1 gene.-Interactions:Flap structure-specific endonuclease 1 has been shown to interact with Cyclin-dependent kinase 2, EP300, Werner syndrome ATP-dependent helicase, Heterogeneous nuclear ribonucleoprotein A1, Cyclin A2, PCNA,...
, H2AFX
H2AFX
H2AX is one of several genes coding for histone H2A. In humans and other eukaryotes, the DNA is wrapped around histone-groups, consisting of core histones H2A, H2B, H3 and H4. Thus, the H2AX contributes to the histone-formation and therefore the structure of DNA.H2AX becomes phosphorylated on...
, TP53BP1
TP53BP1
Tumor suppressor p53-binding protein 1 also known as p53-binding protein 1 or 53BP1 is a protein that in humans is encoded by the TP53BP1 gene.- Clinical significance :53BP1 is underexpressed in most cases of triple-negative breast cancer....
, P53
P53
p53 , is a tumor suppressor protein that in humans is encoded by the TP53 gene. p53 is crucial in multicellular organisms, where it regulates the cell cycle and, thus, functions as a tumor suppressor that is involved in preventing cancer...
, TOP3A
TOP3A
DNA topoisomerase 3-alpha is an enzyme that in humans is encoded by the TOP3A gene.-Interactions:TOP3A has been shown to interact with Bloom syndrome protein.-Further reading:...
, MLH1
MLH1
MutL homolog 1, colon cancer, nonpolyposis type 2 , also known as MLH1, is a human gene located on Chromosome 3. It is a gene commonly associated with hereditary nonpolyposis colorectal cancer.It can also be associated with Turcot syndrome....
and CHAF1A
CHAF1A
Chromatin assembly factor 1 subunit A is a protein that in humans is encoded by the CHAF1A gene.-Interactions:CHAF1A has been shown to interact with ASF1B, ASF1A, MBD1, Bloom syndrome protein and CBX5.-Further reading:...
.