Harmonizome 3.0

photoreceptor cilium actin regulator

The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa. [provided by RefSeq, Jun 2010]

Myeloproliferative syndrome, transient (transient abnormal

Respiratory rhythmicity in sleep

asp (abnormal spindle) homolog, microcephaly associated (Drosophila)

This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]

nuclear respiratory factor 1

This gene encodes a protein that homodimerizes and functions as a transcription factor which activates the expression of some key metabolic genes regulating cellular growth and nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication. The protein has also been associated with the regulation of neurite outgrowth. Alternative splicing results in multiple transcript variants. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene and for `nuclear factor (erythroid-derived 2)-like 1` which has an official symbol of NFE2L1. [provided by RefSeq, May 2014]

motile sperm domain containing 3

This gene encodes a multi-pass membrane protein with a major sperm protein (MSP) domain. The deletion of a similar mouse gene is associated with defective cardiac development and neonatal lethality. Alternate transcriptional splice variants, encoding different isoforms, have been described. [provided by RefSeq, Jul 2008]

motile sperm domain containing 2

Enables FFAT motif binding activity. Involved in lipid droplet formation; positive regulation of leukocyte chemotaxis; and protein homooligomerization. Located in endoplasmic reticulum membrane; endoplasmic reticulum-endosome membrane contact site; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

motile sperm domain containing 1

Predicted to be involved in negative regulation of transcription by RNA polymerase II and positive regulation of transcription by RNA polymerase II. Predicted to be located in nucleus and perinuclear region of cytoplasm. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]