NCB5OR is a flavohemoprotein that contains functional domains found in both cytochrome b5 (CYB5A; MIM 613218) and CYB5 reductase (CYB5R3; MIM 613213) (Zhu et al., 1999 [PubMed 10611283]).[supplied by OMIM, Jan 2010]
PHENOTYPE: Homozygous null mice die before E6.5-7.5. Heterozygous mice model Zhu-Tokita-Takenouchi-Kim syndrome, with growth retardation, cognitive impairment, skeletal abnormalities, kidney agenesis, hematopoietic abnormalities including leukopenia and immunoglobulin deficiency and impaired erythropoiesis. [provided by MGI curators]
Enables RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in several processes, including establishment of mitotic spindle orientation; neuron differentiation involved in amphid sensory organ development; and regulation of cell differentiation. Located in nucleus. Expressed in several structures, including AB lineage cell; AWC-ON; M.dla; head; and somatic nervous system. Human ortholog(s) of this gene implicated in oculoauricular syndrome. Is an ortholog of human HMX1 (H6 family homeobox 1).
WDR61 is a subunit of the human PAF and SKI complexes, which function in transcriptional regulation and are involved in events downstream of RNA synthesis, such as RNA surveillance (Zhu et al., 2005 [PubMed 16024656]).[supplied by OMIM, Mar 2008]
Predicted to enable monoatomic cation channel activity. Involved in defecation. Predicted to be located in plasma membrane. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis-parkinsonism/dementia complex 1; cataract; and congenital stationary night blindness 1C. Is an ortholog of human TRPM1 (transient receptor potential cation channel subfamily M member 1); TRPM3 (transient receptor potential cation channel subfamily M member 3); and TRPM7 (transient receptor potential cation channel subfamily M member 7).
Enables phosphatase binding activity and protein-macromolecule adaptor activity. Involved in positive regulation of sarcomere organization. Located in M band and striated muscle dense body. Expressed in body wall musculature.
Predicted to enable protein tyrosine phosphatase activity. Predicted to be involved in G2/M transition of mitotic cell cycle; positive regulation of G2/M transition of mitotic cell cycle; and positive regulation of G2/MI transition of meiotic cell cycle. Predicted to be located in cytoplasm and nucleus. Expressed in several structures, including ganglia; germ line; male-specific anatomical entity; pharyngeal cell; and ventral nerve cord.
Enables cytoskeletal protein binding activity. Involved in several processes, including locomotory behavior; myofibril assembly; and post-embryonic body morphogenesis. Located in M band and nucleus. Expressed in anal depressor muscle; body wall musculature; head muscle; and vulval muscle.