Cd300c

Homo sapiens

The CMRF35 antigen, which was identified by reactivity with a monoclonal antibody, is present on monocytes, neutrophils, and some T and B lymphocytes (Jackson et al., 1992 [PubMed 1349532]).[supplied by OMIM, Mar 2008]

Krt17

Homo sapiens

This gene encodes the type I intermediate filament chain keratin 17, expressed in nail bed, hair follicle, sebaceous glands, and other epidermal appendages. Mutations in this gene lead to Jackson-Lawler type pachyonychia congenita and steatocystoma multiplex. [provided by RefSeq, Aug 2008]

LCE1A

Homo sapiens

LCE1A belongs to the late cornified envelope (LCE) gene cluster within the epidermal differentiation complex (EDC) on chromosome 1. The LCE cluster contains multiple conserved genes that encode stratum corneum proteins, and these genes are expressed relatively late during fetal assembly of the skin cornified envelope (Jackson et al., 2005 [PubMed 15854049]). For further information on the LCE gene cluster, see GENE FAMILY below.[supplied by OMIM, Feb 2009]

Rimklb

Mus musculus

PHENOTYPE: Mice homozygous for a 3 bp deletion exhibit male infertility, with decreased sperm counts, impaired sperm motility, sperm head abnormalities and incomplete spermatogenesis. [provided by MGI curators]

GPI10

Saccharomyces cerevisiae

Integral membrane protein involved in GPI anchor synthesis; putative alpha 1,2 mannosyltransferase required for addition of the third mannose onto the glycosylphosphatidylinositol (GPI) core structure; human PIG-Bp is a functional homolog

etr-1

Caenorhabditis elegans

Predicted to enable mRNA 3'-UTR binding activity. Involved in determination of adult lifespan. Located in nucleus. Expressed in body wall musculature; cloacal sphincter muscle; copulatory spicule; non-striated muscle; and somatic gonad. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 97. Is an ortholog of human CELF1 (CUGBP Elav-like family member 1).

REPTOR-BP

Drosophila melanogaster

REPTOR-binding partner (REPTOR-BP) encodes a transcription factor constitutively localized in the nucleus. Together with its binding partner encoded by REPTOR, it mediates much of the transcriptional response observed upon Tor complex 1 inhibition.

Fgfr1

Rattus norvegicus

Enables cell adhesion molecule binding activity and signaling receptor binding activity. Involved in several processes, including cellular response to histamine; neuron development; and positive regulation of cell population proliferation. Located in perinuclear region of cytoplasm. Used to study pulmonary hypertension. Biomarker of several diseases, including ischemia (multiple); mesangial proliferative glomerulonephritis; sciatic neuropathy; vascular dementia; and visual epilepsy. Human ortholog(s) of this gene implicated in several diseases, including Jackson-Weiss syndrome; bone disease (multiple); carcinoma (multiple); hematologic cancer (multiple); and hypogonadotropic hypogonadism (multiple). Orthologous to human FGFR1 (fibroblast growth factor receptor 1); PARTICIPATES IN cerium oxide nanoparticle response pathway; fibroblast growth factor signaling pathway; glypican signaling pathway; INTERACTS WITH 2-amino-2-deoxy-D-glucopyranose; 3,3',5-triiodo-L-thyronine; 6-propyl-2-thiouracil.

Fgfr2

Rattus norvegicus

Enables fibroblast growth factor binding activity and fibroblast growth factor receptor activity. Involved in several processes, including cellular response to retinoic acid; cellular response to transforming growth factor beta stimulus; and positive regulation of vascular associated smooth muscle cell proliferation. Located in cell surface. Used to study prostate cancer and retinitis pigmentosa. Biomarker of essential hypertension; hypospadias; portal hypertension; and transient cerebral ischemia. Human ortholog(s) of this gene implicated in several diseases, including Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; breast cancer (multiple); gastrointestinal system cancer (multiple); and synostosis (multiple). Orthologous to human FGFR2 (fibroblast growth factor receptor 2); PARTICIPATES IN fibroblast growth factor signaling pathway; endocytosis pathway; mitogen activated protein kinase signaling pathway; INTERACTS WITH 1-(5-isoquinolinesulfonyl)-2-methylpiperazine; 1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine; 17alpha-ethynylestradiol.

Sim1

Saccharomyces cerevisiae

Protein of the SUN family (Sim1p, Uth1p, Nca3p, Sun4p); may participate in DNA replication; promoter contains SCB regulation box at -300 bp indicating that expression may be cell cycle-regulated; SIM1 has a paralog, SUN4, that arose from the whole genome duplication