Genes on human chromosome 11

protein-coding gene in the species Homo sapiens

CYP2R1 is cytochrome P450 2R1, an enzyme which is the principal vitamin D 25-hydroxylase. In humans it is encoded by the CYP2R1 gene located on chromosome 11p15.2. It is expressed in the endoplasmic reticulum in liver, where it performs the first step in the activation of vitamin D by catalyzing the formation of 25-hydroxyvitamin D.

protein-coding gene in the species Homo sapiens (Humans)

Transcription factor PU.1 is a protein that in humans is encoded by the SPI1 gene.

mammalian protein found in Homo sapiens

Tripartite motif-containing protein 5 also known as RING finger protein 88 is a protein that in humans is encoded by the TRIM5 gene. The alpha isoform of this protein, TRIM5α, is a retrovirus restriction factor, which mediates a species-specific early block to retrovirus infection.

family of lipid-gated inward-rectifier potassium ion channels

Histone acetyltransferase KAT5 is an enzyme that in humans is encoded by the KAT5 gene. It is also commonly identified as TIP60.

Transcription factor SOX-6 is a protein that in humans is encoded by the SOX6 gene.

Transcobalamins are carrier proteins which bind cobalamin (vitamin B12).

class of enzymes

DNA polymerase delta subunit 4, also known as DNA polymerase delta subunit p12, is a protein that in humans is encoded by the POLD4 gene. It is a component of the DNA polymerase delta complex.

protein-coding gene in the species Homo sapiens

InterPro Family

mammalian protein found in Homo sapiens

protein-coding gene in the species Homo sapiens

Arrestins (abbreviated Arr) are a small family of proteins important for regulating signal transduction at G protein-coupled receptors. Arrestins were first discovered in the late '80s as a part of a conserved two-step mechanism for regulating the activity of G protein-coupled receptors (GPCRs) in the visual rhodopsin system by Hermann Kühn, Scott Hall, and Ursula Wilden and in the β-adrenergic system by Martin J. Lohse and co-workers.

protein-coding gene in the species Homo sapiens

InterPro Family

Harmonin is a protein that in humans is encoded by the USH1C gene. It is expressed in sensory cells of the inner ear and retina, where it plays a role in hearing, balance, and vision. Mutations at the USH1C locus cause Usher syndrome type 1c and nonsyndromic sensorineural deafness.

AP-2 complex subunit alpha-2 is a protein that in humans is encoded by the AP2A2 gene.

protein-coding gene in the species Homo sapiens

Protein C-ets-1 is a protein that in humans is encoded by the ETS1 gene. The protein encoded by this gene belongs to the ETS family of transcription factors.

Alpha-crystallin B chain is a protein that in humans is encoded by the CRYAB gene. It is part of the small heat shock protein family and functions as molecular chaperone that primarily binds misfolded proteins to prevent protein aggregation, as well as inhibit apoptosis and contribute to intracellular architecture. Post-translational modifications decrease the ability to chaperone. Mutations in CRYAB cause different cardiomyopathies, skeletal myopathies mainly myofibrillar myopathy, and also cataracts. In addition, defects in this gene/protein have been associated with cancer and neurodegenera

PHD finger protein 21A is a protein that in humans is encoded by the PHF21A gene.

protein-coding gene in the species Homo sapiens

Leupaxin is a protein that in humans is encoded by the LPXN gene.

mammalian protein found in Homo sapiens

class of enzymes

H2A histone family member X (usually abbreviated as H2AX) is a type of histone protein from the H2A family encoded by the H2AFX gene. An important phosphorylated form is γH2AX (S139), which forms when double-strand breaks appear.

Menin is a protein that in humans is encoded by the MEN1 gene. Menin is a putative tumor suppressor associated with multiple endocrine neoplasia type 1 (MEN-1 syndrome) and has autosomal dominant inheritance. Variations in the MEN1 gene can cause pituitary adenomas, hyperparathyroidism, pancreatic neuroendocrine tumors, gastrinoma, and adrenocortical cancers.

Junctional adhesion molecule C is a protein that in humans is encoded by the JAM3 gene.

Stromelysin-1 also known as matrix metalloproteinase-3 (MMP-3) is an enzyme that in humans is encoded by the MMP3 gene. The MMP3 gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. MMP-3 has an estimated molecular weight of 54 kDa.

mammalian protein found in Homo sapiens

Recombination activating gene 2 protein (also known as RAG-2) is a lymphocyte-specific protein encoded by the RAG2 gene on human chromosome 11. Together with the RAG1 protein, RAG2 forms a V(D)J recombinase, a protein complex required for the process of V(D)J recombination during which the variable regions of immunoglobulin and T cell receptor genes are assembled in developing B and T lymphocytes. Therefore, RAG2 is essential for the generation of mature B and T lymphocytes.

Olfactory receptor 6A2 is a protein that in humans is encoded by the OR6A2 gene. It is Class II (tetrapod-specific) olfactory receptor and a rhodopsin-like receptor.

mammalian protein found in Homo sapiens

Fibroblast growth factor 19 is a protein that in humans is encoded by the FGF19 gene. It functions as a hormone, regulating bile acid synthesis, with effects on glucose and lipid metabolism. Reduced synthesis, and blood levels, may be a factor in chronic bile acid diarrhea and in certain metabolic disorders.

protein-coding gene in the species Homo sapiens

protein-coding gene in the species Homo sapiens

Tripartite motif-containing protein 21, also known as E3 ubiquitin-protein ligase TRIM21, is a protein that in humans is encoded by the TRIM21 gene. Alternatively spliced transcript variants for this gene have been described but the full-length nature of only one has been determined. It is expressed in most human tissues.

Cleavage stimulation factor 77 kDa subunit is a protein that in humans is encoded by the CSTF3 gene.

protein-coding gene in the species Homo sapiens

protein-coding gene in the species Homo sapiens

protein-coding gene in the species Homo sapiens

Alpha-tectorin is a protein that in humans is encoded by the TECTA gene.

Double-strand break repair protein MRE11 (Meiotic recombination 11) is an enzyme that in humans is encoded by the MRE11 gene. The gene has been designated MRE11A to distinguish it from the pseudogene MRE11B that is nowadays named MRE11P1.

protein-coding gene in the species Homo sapiens

Sperm surface protein Sp17 is a protein that in humans is encoded by the SPA17 gene.

Rho guanine nucleotide exchange factor 12 is a protein that in humans is encoded by the ARHGEF12 gene. This protein is also called RhoGEF12 or Leukemia-associated Rho guanine nucleotide exchange factor (LARG).

MyoD, also known as myoblast determination protein 1, is a protein in animals that plays a major role in regulating muscle differentiation. MyoD, which was discovered in the laboratory of Harold M. Weintraub, belongs to a family of proteins known as myogenic regulatory factors (MRFs). These bHLH (basic helix loop helix) transcription factors act sequentially in myogenic differentiation. Vertebrate MRF family members include MyoD1, Myf5, myogenin, and MRF4 (Myf6). In non-vertebrate animals, a single MyoD protein is typically found.

Methylosome subunit pICln is a protein that in humans is encoded by the CLNS1A gene.

Frizzled-4 (Fz-4) is a protein that in humans is encoded by the FZD4 gene. Fz-4 has also been designated as CD344 (cluster of differentiation 344).

Recombination activating gene 1 also known as RAG-1 is a protein that in humans is encoded by the RAG1 gene.

protein-coding gene in the species Homo sapiens

Ferritin heavy chain is a ferroxidase enzyme that in humans is encoded by the FTH1 gene. FTH1 gene is located on chromosome 11, and its mutation causes Hemochromatosis type 5.

Checkpoint kinase 1, commonly referred to as Chk1, is a serine/threonine-specific protein kinase that, in humans, is encoded by the CHEK1 gene. Chk1 coordinates the DNA damage response (DDR) and cell cycle checkpoint response. Activation of Chk1 results in the initiation of cell cycle checkpoints, cell cycle arrest, DNA repair and cell death to prevent damaged cells from progressing through the cell cycle.

Beta-1,3-Glucuronyltransferase 3 is an enzyme that in humans is encoded by the B3GAT3 gene.

GTPase HRas, the "Harvey Rat sarcoma viral oncogene homolog", also known as transforming protein p21, is an enzyme that in humans is encoded by the gene. The HRAS gene is located on the short (p) arm of chromosome 11 at position 15.5, from base pair 522,241 to base pair 525,549. HRas is a small G protein in the Ras subfamily of the Ras superfamily of small GTPases. Once bound to guanosine triphosphate, H-Ras will activate a Raf kinase like c-Raf, the next step in the MAPK/ERK pathway.

CUG triplet repeat, RNA binding protein 1, also known as CUGBP1, is a protein which in humans is encoded by the CUGBP1 gene.