Entrez Summary: This gene encodes a centromere protein that is a component of the CENPA-NAC (nucleosome-associated) complex. This complex is critical for accurate chromosome alignment and segregation and it ensures proper mitotic progression. This protein regulates the recruitment of kinetochore-associated proteins that are required to generate the spindle checkpoint signal. The product of this gene is involved in the response of gonadal tissues to follicle-stimulating hormone. Mutations in this gene may be involved in human X-linked disorders of gonadal development and gametogenesis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 13. [provided by RefSeq, Jan 2016].
UniProt Summary: Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex. Required for the localization of CENPF, MAD1L1 and MAD2 (MAD2L1 or MAD2L2) to kinetochores. Involved in the response of gonadal tissues to follicle-stimulating hormone. {ECO:0000269|PubMed:12640463, ECO:0000269|PubMed:16622420}.
Pfam DomainsGO Terms
Pfam Domains
Mis6
GO Terms
CENP-A containing chromatin organization
CENP-A containing nucleosome assembly
chromatin remodeling at centromere
centromere complex assembly
DNA replication-independent nucleosome assembly
DNA replication-independent nucleosome organization
histone exchange
ATP-dependent chromatin remodeling
kinetochore
nucleosome assembly
chromatin assembly
chromatin assembly or disassembly
nucleosome organization
chromatin remodeling
DNA packaging
protein-DNA complex assembly
protein-DNA complex subunit organization
sex differentiation
nuclear body
DNA conformation change
developmental process involved in reproduction
chromatin organization
cellular protein-containing complex assembly
chromosome organization
reproductive process
reproduction
protein-containing complex assembly
protein-containing complex subunit organization
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)