mel-28

Caenorhabditis elegans

Enables molecular adaptor activity. Involved in mitotic sister chromatid segregation and nuclear pore complex assembly. Located in kinetochore; nuclear envelope; and nucleoplasm. Part of nuclear pore.

CHM7

Saccharomyces cerevisiae

Phosphatidic acid (PA)-binding nuclear envelope (NE)-specific ESCRT; homolog of human CHMP7, localizes to the endoplasmic reticulum presumably as part of ESCRT-III like complex

Nup155

Homo sapiens

Nucleoporins are proteins that play an important role in the assembly and functioning of the nuclear pore complex (NPC) which regulates the movement of macromolecules across the nuclear envelope (NE). The protein encoded by this gene plays a role in the fusion of NE vesicles and formation of the double membrane NE. The protein may also be involved in cardiac physiology and may be associated with the pathogenesis of atrial fibrillation. Alternative splicing results in multiple transcript variants of this gene. A pseudogene associated with this gene is located on chromosome 6. [provided by RefSeq, May 2013]

Gpc3

Homo sapiens

Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. The protein encoded by this gene can bind to and inhibit the dipeptidyl peptidase activity of CD26, and it can induce apoptosis in certain cell types. Deletion mutations in this gene are associated with Simpson-Golabi-Behmel syndrome, also known as Simpson dysmorphia syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

gpn-1

Caenorhabditis elegans

Involved in several processes, including epidermis morphogenesis; nematode larval development; and neuron migration. Predicted to be located in cell surface. Expressed in neuroblasts and ventral cord neurons. Human ortholog(s) of this gene implicated in Keipert syndrome; hepatocellular carcinoma; and omodysplasia 1. Is an ortholog of several human genes including GPC1 (glypican 1); GPC4 (glypican 4); and GPC6 (glypican 6).

Gpc3

Rattus norvegicus

Predicted to enable peptidyl-dipeptidase inhibitor activity. Acts upstream of or within negative regulation of canonical Wnt signaling pathway and positive regulation of Wnt signaling pathway, planar cell polarity pathway. Located in plasma membrane. Used to study hepatocellular carcinoma. Human ortholog(s) of this gene implicated in Simpson-Golabi-Behmel syndrome type 1 and nephroblastoma. Orthologous to human GPC3 (glypican 3); PARTICIPATES IN glypican signaling pathway; Hedgehog signaling pathway; INTERACTS WITH 1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane; 17alpha-ethynylestradiol; 17beta-estradiol.

Ofd1

Homo sapiens

This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. [provided by RefSeq, Aug 2016]

Gpc4

Homo sapiens

Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. The GPC4 gene is adjacent to the 3' end of GPC3 and may also play a role in Simpson-Golabi-Behmel syndrome. [provided by RefSeq, Jul 2008]

Ofd1

Rattus norvegicus

Predicted to enable identical protein binding activity; molecular adaptor activity; and tubulin binding activity. Involved in cilium assembly. Predicted to be located in centriolar satellite; centriole; and cilium. Predicted to be active in centrosome; ciliary basal body; and motile cilium. Biomarker of retinal degeneration. Human ortholog(s) of this gene implicated in Joubert syndrome 10; Simpson-Golabi-Behmel syndrome type 2; orofaciodigital syndrome I; retinitis pigmentosa; and retinitis pigmentosa 23. Orthologous to human OFD1 (OFD1 centriole and centriolar satellite protein); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 6-propyl-2-thiouracil; bisphenol A.