hlh-34

Caenorhabditis elegans

Predicted to enable DNA binding activity. Involved in several processes, including nematode pharyngeal pumping; neuron fate specification; and serotonin receptor signaling pathway. Predicted to be located in nucleus. Expressed in ABalapaaap; ABalappapp; AVJL; and AVJR. Human ortholog(s) of this gene implicated in several diseases, including Alzheimer's disease; artery disease (multiple); arthritis (multiple); and kidney cancer (multiple). Is an ortholog of several human genes including NPAS1 (neuronal PAS domain protein 1); SIM1 (SIM bHLH transcription factor 1); and SIM2 (SIM bHLH transcription factor 2).

Sim1

Homo sapiens

SIM1 and SIM2 genes are Drosophila single-minded (sim) gene homologs. SIM1 transcript was detected only in fetal kidney out of various adult and fetal tissues tested. Since the sim gene plays an important role in Drosophila development and has peak levels of expression during the period of neurogenesis,it was proposed that the human SIM gene is a candidate for involvement in certain dysmorphic features (particularly the facial and skull characteristics), abnormalities of brain development, and/or cognitive disability of Down syndrome. [provided by RefSeq, Jul 2008]

cky-1

Caenorhabditis elegans

Contributes to sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Part of RNA polymerase II transcription regulator complex. Expressed in pharyngeal cell. Is an ortholog of human NPAS4 (neuronal PAS domain protein 4).

Kcnmb2

Mus musculus

PHENOTYPE: Homozygous inactivation of this gene abolishes inactivation of BK currents in mouse adrenal chromaffin cells and results in slow-wave burst activity. [provided by MGI curators]

Lrrc26

Mus musculus

PHENOTYPE: The gene product is part of BK ion channels in secretory epithelial cells. Homozygous knockout results in significantly reduced K+ efflux from salivary glands. [provided by MGI curators]

slo

Drosophila melanogaster

slowpoke (slo) encodes the structural alpha subunit of a BK ('maxi K') calcium-activated potassium channel. It regulates neurotransmitter release at the synapse and maintain electrical excitability in neurons and muscle cells.

Rad18

Saccharomyces cerevisiae

E3 ubiquitin ligase; forms heterodimer with Rad6p to monoubiquitinate PCNA-K164; heterodimer binds single-stranded DNA and has single-stranded DNA dependent ATPase activity; required for postreplication repair; SUMO-targeted ubiquitin ligase (STUbl) that contains a SUMO-interacting motif (SIM) which stimulates its ubiquitin ligase activity towards the sumoylated form of PCNA

Npas4

Homo sapiens

NXF is a member of the basic helix-loop-helix-PER (MIM 602260)-ARNT (MIM 126110)-SIM (see SIM2; MIM 600892) (bHLH-PAS) class of transcriptional regulators, which are involved in a wide range of physiologic and developmental events (Ooe et al., 2004 [PubMed 14701734]).[supplied by OMIM, Mar 2008]

Kcnma1

Homo sapiens

This gene encodes the alpha subunit of calcium-activated BK channel. The encoded protein is involved in several physiological processes including smooth muscle contraction, neurotransmitter release and neuronal excitability. Mutations in this gene are associated with a spectrum of neurological disorders including Paroxysmal Nonkinesigenic Dyskinesia 3, Idiopathic Generalized Epilepsy 16 and Liang-Wang syndrome. [provided by RefSeq, Aug 2022]

SLX5

Saccharomyces cerevisiae

Subunit of the Slx5-Slx8 SUMO-targeted Ub ligase (STUbL) complex; role in Ub-mediated degradation of histone variant Cse4p preventing mislocalization to euchromatin; role in proteolysis of spindle positioning protein Kar9p, and DNA repair proteins Rad52p and Rad57p; forms SUMO-dependent nuclear foci, including DNA repair centers; contains a RING domain and two SIM motifs; associates with the centromere; required for maintenance of genome integrity like human ortholog RNF4