catalog number :
MBS003291
products full name :
Rabbit CEP152 Antibody
products short name :
CEP152
other names :
centrosomal protein of 152 kDa isoform 2; Centrosomal protein of 152 kDa; centrosomal protein of 152 kDa; asterless; microcephaly, primary autosomal recessive 4; centrosomal protein 152kDa
products gene name :
CEP152
other gene names :
CEP152; CEP152; MCPH4; MCPH9; SCKL5; KIAA0912; Cep152
uniprot entry name :
CE152_HUMAN
reactivity :
Human, mouse
form :
Phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol
tested application :
Immunohistochemistry (IHC), ELISA (EIA)
ncbi acc num :
NP_055800.2
ncbi gb acc num :
NM_014985.3
ncbi mol weight :
189,071 Da
ncbi pathways :
Cell Cycle Pathway 530733!!Cell Cycle, Mitotic Pathway 105765!!Centrosome Maturation Pathway 105807!!G2/M Transition Pathway 105801!!Loss Of Nlp From Mitotic Centrosomes Pathway 105811!!Loss Of Proteins Required For Interphase Microtubule Organization From The Centrosome Pathway 105810!!Mitotic G2-G2/M Phases Pathway 160942!!Recruitment Of Mitotic Centrosome Proteins And Complexes Pathway 105808
ncbi summary :
This gene encodes a protein that is thought to be involved with centrosome function. Mutations in this gene have been associated with primary microcephaly (MCPH4). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
uniprot summary :
Function: Regulator of genomic integrity and cellular response to DNA damage acting through ATR-mediated checkpoint signaling. Necessary for centrosome duplication. It functions as a molecular scaffold facilitating the interaction of PLK4 and CENPJ, two molecules involved in centriole formation. Ref.5 Ref.6 Ref.7. Subunit structure: Interacts (via N-terminus) with PLK4. Interacts (via C-terminus) with CENPJ (via-N-terminus). Interacts with CINP. Interacts with CEP63; this interaction recruits CEP152 to centrosomes. Ref.5 Ref.6 Ref.7 Ref.8. Subcellular location: Cytoplasm cytoskeleton centrosome. Note: Colocalizes with CEP63 in a discrete ring around the proximal end of the parental centriole. At this site, a cohesive structure is predicted to engage parental centrioles and procentrioles. Ref.5 Ref.7 Ref.8 Ref.9. Involvement in disease: Microcephaly, primary, 9 (MCPH9) [MIM:614852]: A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9Seckel syndrome 5 (SCKL5) [MIM:613823]: A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7. Sequence caution: The sequence AAH69186.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.The sequence BAA74935.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.