arc-1

Caenorhabditis elegans

Predicted to enable GTPase activity; small molecule binding activity; and transferase activity. Predicted to be involved in intracellular protein transport and vesicle-mediated transport. Predicted to be located in lysosomal membrane and plasma membrane. Is an ortholog of human TRIM23 (tripartite motif containing 23).

madd-2

Caenorhabditis elegans

Enables protein homodimerization activity; signaling receptor binding activity; and ubiquitin-protein transferase activity. Involved in cell projection organization; protein ubiquitination; and regulation of protein localization. Located in several cellular components, including cell leading edge; neuronal cell body; and striated muscle dense body. Expressed in several structures, including anchor cell; intestinal cell; muscle cell; neurons; and ray precursor cell. Used to study Opitz GBBB syndrome. Human ortholog(s) of this gene implicated in Opitz GBBB syndrome; anencephaly; and non-syndromic X-linked intellectual disability 101. Is an ortholog of human TRIM67 (tripartite motif containing 67) and TRIM9 (tripartite motif containing 9).

Dhcr7

Rattus norvegicus

Enables 7-dehydrocholesterol reductase activity. Involved in cholesterol biosynthetic process and regulation of cholesterol biosynthetic process. Predicted to be located in endoplasmic reticulum and nuclear outer membrane. Predicted to be active in endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in Behcet's disease and Smith-Lemli-Opitz syndrome. Orthologous to human DHCR7 (7-dehydrocholesterol reductase); PARTICIPATES IN cholesterol biosynthetic pathway; steroid biosynthetic pathway; INTERACTS WITH 1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane; 1-naphthyl isothiocyanate; 17alpha-ethynylestradiol.

Mid1

Rattus norvegicus

Predicted to enable several functions, including microtubule binding activity; protein homodimerization activity; and ubiquitin protein ligase binding activity. Predicted to be involved in positive regulation of stress-activated MAPK cascade; protein localization to microtubule; and regulation of microtubule cytoskeleton organization. Predicted to act upstream of or within negative regulation of microtubule depolymerization. Predicted to be located in Golgi apparatus; cytosol; and microtubule cytoskeleton. Predicted to be active in cytoplasm. Human ortholog(s) of this gene implicated in Opitz GBBB syndrome. Orthologous to human MID1 (midline 1); PARTICIPATES IN ubiquitin/proteasome degradation pathway; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,3,7,8-Tetrachlorodibenzofuran; 6-propyl-2-thiouracil.

Med12

Homo sapiens

The initiation of transcription is controlled in part by a large protein assembly known as the preinitiation complex. A component of this preinitiation complex is a 1.2 MDa protein aggregate called Mediator. This Mediator component binds with a CDK8 subcomplex which contains the protein encoded by this gene, mediator complex subunit 12 (MED12), along with MED13, CDK8 kinase, and cyclin C. The CDK8 subcomplex modulates Mediator-polymerase II interactions and thereby regulates transcription initiation and reinitation rates. The MED12 protein is essential for activating CDK8 kinase. Defects in this gene cause X-linked Opitz-Kaveggia syndrome, also known as FG syndrome, and Lujan-Fryns syndrome. [provided by RefSeq, Aug 2009]

Pax6

Rattus norvegicus

Enables DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and minor groove of adenine-thymine-rich DNA binding activity. Involved in several processes, including enteroendocrine cell differentiation; nervous system development; and positive regulation of macromolecule biosynthetic process. Part of chromatin. Used to study autistic disorder. Biomarker of Smith-Lemli-Opitz syndrome and transient cerebral ischemia. Human ortholog(s) of this gene implicated in bilateral optic nerve hypoplasia; eye disease (multiple); glucose intolerance; and paranoid schizophrenia. Orthologous to human PAX6 (paired box 6); PARTICIPATES IN maturity-onset diabetes of the young pathway; INTERACTS WITH (S)-nicotine; 1,2-dimethylhydrazine; 3H-1,2-dithiole-3-thione.

Dhcr7

Homo sapiens

This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by cognitive disability, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009]

Mid1

Homo sapiens

The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also known as the 'RING-B box-coiled coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein forms homodimers which associate with microtubules in the cytoplasm. The protein is likely involved in the formation of multiprotein structures acting as anchor points to microtubules. Mutations in this gene have been associated with the X-linked form of Opitz syndrome, which is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias, and agenesis of the corpus callosum. This gene was also the first example of a gene subject to X inactivation in human while escaping it in mouse. Alternative promoter use, alternative splicing and alternative polyadenylation result in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]