BRRN1 ist ein Gen, das durch das Symbol NCAPH kodiert wird. Andere Namen sind: Condensin complex subunit 2; Barren homolog protein 1; Chromosome-associated protein H; hCAP-H; Non-SMC condensin I complex subunit H; XCAP-H homolog; NCAPH; BRRN; CAPH; KIAA0074. BRRN1 hat eine Masse von 82.56kDa, eine Aminosäurelänge von 741, und ist an Microcephaly 23, primary, autosomal recessive beteiligt.
Wir bieten 6 antikörper gegen BRRN1, aufgewachsen in Kaninchen und Ziege, welche geeignet sind für WB, ELISA and ICC/IF mit Proben abgeleitet von Human.
Gen- und Proteininformationen
UniProt Zusammenfassung
Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases (PubMed:11136719). Early in neurogenesis, may play an essential role to ensure accurate mitotic chromosome condensation in neuron stem cells, ultimately affecting neuron pool and cortex size (PubMed:27737959).
Entrez Zusammenfassung
This gene encodes a member of the barr gene family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. The protein encoded by this gene is associated with mitotic chromosomes, except during the early phase of chromosome condensation. During interphase, the protein has a distinct punctate nucleolar localization. Alternatively spliced transcript variants encoding different proteins have been described.
Gewebespezifität
Widely expressed at low level. Expressed in proliferating cells.
Rolle bei Krankheiten
Microcephaly 23, primary, autosomal recessive: A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small.
Sequenzähnlichkeiten
Belongs to the CND2 (condensin subunit 2) family.
Posttranslationale Modifikation
Phosphorylated by CDK1. Its phosphorylation, as well as that of NCAPD2 and NCAPG subunits, activates the condensin complex and is required for chromosome condensation (By similarity).
Zellort
Nucleus. Cytoplasm. Chromosome.
In interphase cells, the majority of the condensin complex is found in the cytoplasm, while a minority of the complex is associated with chromatin. A subpopulation of the complex however remains associated with chromosome foci in interphase cells. During mitosis, most of the condensin complex is associated with the chromatin. At the onset of prophase, the regulatory subunits of the complex are phosphorylated by CDK1, leading to condensin's association with chromosome arms and to chromosome condensation. Dissociation from chromosomes is observed in late telophase.
