Genes mutated in mice

Renin (etymology and pronunciation), also known as an angiotensinogenase, is an aspartic protease protein and enzyme secreted by the kidneys that participates in the body's renin–angiotensin–aldosterone system (RAAS), which increases the volume of extracellular fluid (blood plasma, lymph, and interstitial fluid) and causes arterial vasoconstriction. Thus, it increases the body's mean arterial blood pressure.

p53, also known as tumor protein p53, TP53, cellular tumor antigen p53 (UniProt name), or transformation-related protein 53 (TRP53) is a regulatory transcription factor protein that is often mutated in human cancers. The p53 proteins (originally thought to be, and often spoken of as, a single protein) are crucial in vertebrates, where they prevent cancer formation. As such, p53 has been described as "the guardian of the genome" because of its role in conserving stability by preventing genome mutation. Hence TP53 is classified as a tumor suppressor gene.

mammalian protein found in Homo sapiens

thumb|In humans, the MSTN gene is located on the long (q) arm of Chromosome 2 (human)|chromosome 2 at position 32.2. Myostatin (also known as growth differentiation factor 8, abbreviated GDF8) is a protein that in humans is encoded by the MSTN gene. Myostatin is a myokine that is produced and released by myocytes and acts on muscle cells to inhibit muscle growth. Myostatin is a secreted growth differentiation factor that is a member of the TGF beta protein family.

Neurofibromin (NF-1) is a protein that is encoded in humans, in the NF1 gene. NF1 is located on chromosome 17. Neurofibromin, a GTPase-activating protein that negatively regulates RAS/MAPK pathway activity by accelerating the hydrolysis of Ras-bound GTP. NF1 has a high mutation rate and mutations can alter cellular growth control, and neural development, resulting in various presentations (depending on the specific allele expressed) such as Watson syndrome and neurofibromatosis type 1 (NF1, also known as von Recklinghausen syndrome). Symptoms of NF1 include disfiguring cutaneous neurofibromas

protein-coding gene in the species Homo sapiens

Microcephalin (MCPH1) is a gene that is expressed during fetal brain development. Certain mutations in MCPH1, when homozygous, cause primary microcephaly—a severely diminished brain. Hence, it has been assumed that variants have a role in brain development. However, in normal individuals no effect on mental ability or behavior has yet been demonstrated in either this or another similarly studied microcephaly gene, ASPM. However, an association has been established between normal variation in brain structure, as measured with MRI (i.e., primarily cortical surface area and total brain volume) bu

Mitogen-activated protein kinase 1 (MAPK 1), also known as ERK2, is an enzyme that in humans is encoded by the MAPK1 gene.

mammalian protein found in Homo sapiens

Histone deacetylase 1 (HDAC1) is an enzyme that in humans is encoded by the HDAC1 gene.

thumb|280px|Location of FMR1 on the X chromosome.

The double-stranded RNA-specific adenosine deaminase enzyme family are encoded by the ADAR family genes. ADAR stands for adenosine deaminase acting on RNA. This article focuses on the ADAR proteins; This article details the evolutionary history, structure, function, mechanisms and importance of all proteins within this family.

Osteonectin (ON) also known as secreted protein acidic and rich in cysteine (SPARC) or basement-membrane protein 40 (BM-40) is a protein that in humans is encoded by the SPARC gene.

Myeloid differentiation primary response 88 (MYD88) is a protein that, in humans, is encoded by the MYD88 gene. originally discovered in the laboratory of Dan A. Liebermann (Lord et al. Oncogene 1990) as a Myeloid differentiation primary response gene.

InterPro Family

protein-coding gene in the species Homo sapiens

Chromodomain-helicase-DNA-binding protein 7 is an ATP-dependent 'chromatin' or 'nucleosome' remodeling factor that in humans is encoded by the CHD7 gene.

MIS18 binding protein 1 is a protein that in humans is encoded by the MIS18BP1 gene. The gene is also known as LKNL2, M18BP1, C14orf106, and HSA242977. M18BP1 protein is an important component in the CENPA deposition pathway, and in most eukaryotes M18BP1 is necessary for chromosome segregation.

Vacuolar-sorting protein SNF8 is a protein that in humans is encoded by the SNF8 gene. It is a part of ESCRT-II complex.

enzyme class, includes alll types of glycogen/starch synthases

mammalian protein found in Homo sapiens

DEAD (Asp-Glu-Ala-Asp) box polypeptide 27, also known as DDX27, is a human gene.

NOP2/Sun domain family, member 2 is a protein that in humans is encoded by the NSUN2 gene. Alternatively spliced transcript variants encoding different isoforms have been noted for the gene.

Protein HIRA is a protein that in humans is encoded by the HIRA gene. This gene is mapped to 22q11.21, centromeric to COMT.

PSD-95 (postsynaptic density protein 95) also known as SAP-90 (synapse-associated protein 90) is a protein that in humans is encoded by the DLG4 (discs large homolog 4) gene.

mammalian protein found in Homo sapiens

Histone deacetylase 3 is an enzyme encoded by the HDAC3 gene in both humans and mice.

Geminin, DNA replication inhibitor, also known as GMNN, is a protein in humans encoded by the GMNN gene. A nuclear protein present in most eukaryotes and highly conserved across species, numerous functions have been elucidated for geminin including roles in metazoan cell cycle, cellular proliferation, cell lineage commitment, and neural differentiation. One example of its function is the inhibition of Cdt1.

Twinfilin-1 is a protein that in humans is encoded by the TWF1 gene. This gene encodes twinfilin, an actin monomer-binding protein conserved from yeast to mammals. Studies of the mouse counterpart suggest that this protein may be an actin monomer-binding protein, and its localization to cortical G-actin-rich structures may be regulated by the small GTPase RAC1.

Rho guanine nucleotide exchange factor 4 is a protein that in humans is encoded by the ARHGEF4 gene.

6-phosphofructokinase, liver type (PFKL) is an enzyme that in humans is encoded by the PFKL gene on chromosome 21. This gene encodes the liver (L) isoform of phosphofructokinase-1, an enzyme that catalyzes the conversion of D-fructose 6-phosphate to D-fructose 1,6-bisphosphate, which is a key step in glucose metabolism (glycolysis). This enzyme is a tetramer that may be composed of different subunits encoded by distinct genes in different tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

protein-coding gene in the species Homo sapiens

Nucleolar protein with MIF4G domain 1 is a protein that in humans is encoded by the NOM1 gene.

Phospholipase D family, member 5 is a protein that in humans is encoded by the PLD5 gene.

ZZ-type zinc finger-containing protein 3 is a protein that in humans is encoded by the ZZZ3 gene.

S100 calcium-binding protein B (S100B) is a protein of the S100 protein family.

protein-coding gene in the species Homo sapiens

protein-coding gene in the species Homo sapiens

Nuclear protein localization protein 4 homolog is a protein that in humans is encoded by the NPLOC4 gene.

OTU domain containing 6B is a protein that in humans is encoded by the OTUD6B gene.

TBC1 domain family member 10A is a protein that in humans is encoded by the TBC1D10A gene.

Interferon-induced transmembrane protein 3 (IFITM3) is a protein that in humans is encoded by the IFITM3 gene. It plays a critical role in the immune system's defense against Swine Flu, where heightened levels of IFITM3 keep viral levels low, and the removal of IFITM3 allows the virus to multiply unchecked. This observation has been further advanced by a recent study from Paul Kellam's lab that shows that a single nucleotide polymorphism in the human IFITM3 gene purported to increase influenza susceptibility is overrepresented in people hospitalised with pandemic H1N1. The prevalence of this m

Ubiquinone biosynthesis protein COQ9, mitochondrial, also known as coenzyme Q9 homolog (COQ9), is a protein that in humans is encoded by the COQ9 gene.

DCC-interacting protein 13-beta is a protein that in humans is encoded by the APPL2 gene.

ABCD1 is a protein that transfers fatty acids into peroxisomes.

Coiled-coil domain-containing protein 57 is a protein that in humans is encoded by the CCDC57 gene.

protein-coding gene in the species Homo sapiens

mammalian protein found in Homo sapiens

protein involved in attachment of cells

CSRP2 binding protein is a protein that in humans is encoded by the CSRP2BP gene.

MDN1, midasin homolog (yeast) is a protein that in humans is encoded by the MDN1 gene. Midasin is a member AAA ATPase family.

Mitochondrial translational release factor 1-like is a protein that in humans is encoded by the MTRF1L gene.

Integrator complex subunit 12 (Int12) also known as PHD finger protein 22 (PHF22) is a protein that in humans is encoded by the INTS12 gene.

A disintegrin and metalloprotease 17 (ADAM17), also called TACE (tumor necrosis factor-α-converting enzyme), is a 70-kDa enzyme that belongs to the ADAM protein family of disintegrins and metalloproteases, activated by substrate presentation.

Optineurin is a protein that in humans is encoded by the OPTN gene.

Chromobox protein homolog 1 is a protein that in humans is encoded by the CBX1 gene.

Dynactin 5 (p25) is a protein that in humans is encoded by the DCTN5 gene.

Solute carrier family 41, member 3 is a protein that in humans is encoded by the SLC41A3 gene.

RAB7, member RAS oncogene family-like 1 is a protein that in humans is encoded by the RAB7L1 gene. The gene is also known as RAB7L. RAB7L1 encodes a small GTP-binding protein and is a member of the Ras superfamily.

Sorting nexin-5 is a protein that in humans is encoded by the SNX5 gene.