prps-1

Caenorhabditis elegans

Predicted to enable ribose phosphate diphosphokinase activity. Predicted to be involved in 5-phosphoribose 1-diphosphate biosynthetic process and purine nucleotide biosynthetic process. Predicted to be located in cytoplasm. Predicted to be part of ribose phosphate diphosphokinase complex. Expressed in head; somatic gonad precursor; somatic nervous system; and tail. Human ortholog(s) of this gene implicated in several diseases, including Arts syndrome; X-linked deafness 1; and X-linked recessive disease (multiple). Is an ortholog of human PRPS1 (phosphoribosyl pyrophosphate synthetase 1); PRPS1L1 (phosphoribosyl pyrophosphate synthetase 1 like 1); and PRPS2 (phosphoribosyl pyrophosphate synthetase 2).

unc-30

Caenorhabditis elegans

Enables sequence-specific DNA binding activity. Involved in neuron differentiation; positive regulation of transcription by RNA polymerase II; and regulation of locomotion. Located in nucleus. Expressed in GABAergic neurons; ganglia; intestine; and ventral cord neurons. Human ortholog(s) of this gene implicated in Arts syndrome; clubfoot; and eye disease (multiple). Is an ortholog of human PITX2 (paired like homeodomain 2) and PITX3 (paired like homeodomain 3).

PRS1

Saccharomyces cerevisiae

5-phospho-ribosyl-1(alpha)-pyrophosphate synthetase; synthesizes PRPP, which is required for nucleotide, histidine, and tryptophan biosynthesis; plays a key role in cell wall integrity (CWI) pathway; one of five related enzymes, which are active as heteromultimeric complexes; missense mutations in human homolog PRPS1 are associated with neuropathic Arts syndrome and Charcot-Marie Tooth (CMTX5) disease

Prps1

Homo sapiens

This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

Prps1l3

Rattus norvegicus

Predicted to enable ATP binding activity; protein homodimerization activity; and ribose phosphate diphosphokinase activity. Predicted to be involved in 5-phosphoribose 1-diphosphate biosynthetic process and purine nucleotide biosynthetic process. Predicted to be part of ribose phosphate diphosphokinase complex. Predicted to be active in cytoplasm. Human ortholog(s) of this gene implicated in Arts syndrome; X-linked deafness 1; X-linked recessive disease (multiple); gout; and retinitis pigmentosa. Orthologous to human PRPS1 (phosphoribosyl pyrophosphate synthetase 1); INTERACTS WITH amitrole; methimazole.

Prps1

Rattus norvegicus

Enables several functions, including magnesium ion binding activity; purine ribonucleotide binding activity; and ribose phosphate diphosphokinase activity. Involved in 5-phosphoribose 1-diphosphate biosynthetic process; AMP biosynthetic process; and animal organ regeneration. Part of ribose phosphate diphosphokinase complex. Human ortholog(s) of this gene implicated in Arts syndrome; X-linked deafness 1; X-linked recessive disease (multiple); gout; and retinitis pigmentosa. Orthologous to human PRPS1 (phosphoribosyl pyrophosphate synthetase 1); PARTICIPATES IN de novo purine biosynthetic pathway; pentose phosphate pathway; purine metabolic pathway; INTERACTS WITH (+)-schisandrin B; 2,3,7,8-tetrachlorodibenzodioxine; 3H-1,2-dithiole-3-thione.

Septin4

Homo sapiens

This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is highly expressed in brain and heart. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. One of the isoforms (known as ARTS) is distinct; it is localized to the mitochondria, and has a role in apoptosis and cancer. [provided by RefSeq, Nov 2010]

Pitx2

Rattus norvegicus

Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including gonad development; positive regulation of transcription by RNA polymerase II; and response to vitamin A. Predicted to be located in cytoplasm and nucleoplasm. Predicted to be part of transcription regulator complex. Predicted to be active in nucleus. Biomarker of autosomal dominant polycystic kidney disease and hypothyroidism. Human ortholog(s) of this gene implicated in Arts syndrome; Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 1; anterior segment dysgenesis 4; and ring dermoid of cornea. Orthologous to human PITX2 (paired like homeodomain 2); PARTICIPATES IN transforming growth factor-beta superfamily mediated signaling pathway; INTERACTS WITH 1,3-dinitrobenzene; 2,3,7,8-tetrachlorodibenzodioxine; acrylamide.