Genes on human chromosome 16

rare multisystem genetic disease that causes benign tumors to grow in the brain and on other vital organs

human chromosome, group E classification

Chymotrypsin (, chymotrypsins A and B, alpha-chymar ophth, avazyme, chymar, chymotest, enzeon, quimar, quimotrase, alpha-chymar, alpha-chymotrypsin A, alpha-chymotrypsin) is a digestive enzyme component of pancreatic juice acting in the duodenum, where it performs proteolysis, the breakdown of proteins and polypeptides. Chymotrypsin preferentially cleaves peptide amide bonds where the side chain of the amino acid N-terminal to the scissile amide bond (the P1 position) is a large hydrophobic amino acid (tyrosine, tryptophan, and phenylalanine). These amino acids contain an aromatic ring in thei

thumbnail|A model of α,β-hemoglobin/haptoglobin hexamer complex. There are 2 α,β-hemoglobin dimers depicted: one space filling model (yellow/orange), and one ribbon model (purple/blue). Each is bound by a haptoglobin molecule (both haptoglobin molecules are shown in pink, with one as a space filling model and one as a ribbon model).

Protamines are small, arginine-rich, nuclear proteins that replace histones late in the haploid phase of spermatogenesis and are believed essential for sperm head condensation via genomic DNA compaction and stabilization. They may allow for denser packaging of DNA in the spermatozoon than histones, but they must be decompressed before the genetic data can be used for protein synthesis. However, part of the sperm's genome is packaged by histones (10-15% in humans and other primates) thought to bind genes that are essential for early embryonic development.

enzyme found in most living cells

group of proteins

mammalian protein found in Homo sapiens

mammalian protein found in Homo sapiens

mammalian protein found in Homo sapiens

mammalian protein found in Homo sapiens

Nucleotide-binding oligomerization domain-containing protein 2 (NOD2), also known as caspase recruitment domain-containing protein 15 (CARD15) or inflammatory bowel disease protein 1 (IBD1), is a protein that in humans is encoded by the NOD2 gene located on chromosome 16. NOD2 plays an important role in the immune system. It recognizes bacterial molecules (peptidoglycans) and stimulates an immune reaction.

Uromodulin (UMOD),Tamm–Horsfall protein (THP), is a zona pellucida-like domain-containing glycoprotein that in humans is encoded by the UMOD gene. Uromodulin is the most abundant protein excreted in ordinary urine.

class of enzymes

protein-coding gene in the species Homo sapiens

Fractalkine, also known as chemokine (C-X3-C motif) ligand 1, is a protein that in humans is encoded by the CX3CL1 gene.

Cadherin-1 or Epithelial cadherin (E-cadherin), is a protein that in humans is encoded by the CDH1 gene (not to be confused with the APC/C activator protein CDH1). Mutations are correlated with gastric, breast, colorectal, thyroid, and ovarian cancers. CDH1 has also been designated as CD324 (cluster of differentiation 324). It is a tumor suppressor gene.

protein-coding gene in the species Homo sapiens

mammalian protein found in Homo sapiens

mammalian protein found in Homo sapiens

CCL17 is a powerful chemokine produced in the thymus and by antigen-presenting cells like dendritic cells, macrophages, and monocytes. CCL17 plays a complex role in cancer. It attracts T-regulatory cells allowing for some cancers to evade an immune response. However, in other cancers, such as melanoma, an increase in CCL17 is linked to an improved outcome. CCL17 has also been linked to autoimmune and allergic diseases.

B-lymphocyte antigen CD19, also known as CD19 molecule (Cluster of Differentiation 19), B-Lymphocyte Surface Antigen B4, T-Cell Surface Antigen Leu-12 and CVID3 is a transmembrane protein that in humans is encoded by the gene CD19. In humans, CD19 is expressed in all B lineage cells. Contrary to some early doubts, human plasma cells do express CD19. CD19 plays two major roles in human B cells: on the one hand, it acts as an adaptor protein to recruit cytoplasmic signaling proteins to the membrane; on the other, it works within the CD19/CD21 complex to decrease the threshold for B cell receptor

mammalian protein found in Homo sapiens

mammalian protein found in Homo sapiens

protein-coding gene in the species Homo sapiens

C-C motif chemokine 22 is a protein that in humans is encoded by the CCL22 gene.

protein-coding gene in the species Homo sapiens

class of enzymes

CIITA is a human gene which encodes a protein called the class II, major histocompatibility complex, transactivator. Mutations in this gene are responsible for the bare lymphocyte syndrome in which the immune system is severely compromised and cannot effectively fight infection. Chromosomal rearrangement of CIITA is involved in the pathogenesis of Hodgkin lymphoma and primary mediastinal B cell lymphoma.

Transcriptional repressor CTCF also known as 11-zinc finger protein or CCCTC-binding factor is a transcription factor that in humans is encoded by the CTCF gene. CTCF is involved in many cellular processes, including transcriptional regulation, insulator activity, V(D)J recombination and regulation of chromatin architecture.

InterPro Family

mammalian protein found in Homo sapiens

InterPro Family

Calbindins are three different calcium-binding proteins: calbindin, calretinin and S100G. They were originally described as vitamin D-dependent calcium-binding proteins in the intestine and kidney of chicks and mammals. They are now classified in different subfamilies as they differ in the number of Ca2+ binding EF hands.

protein-coding gene in the species Homo sapiens

group of transport proteins

Zinc finger homeobox protein 3 is a protein that in humans is encoded by the ZFHX3 gene.

cell surface protein binding somatostatin and triggering intracellular changes

Acyl-CoA synthetase family member 3 (ACSF3) is a mitochondrial enzyme encoded by the ACSF3 gene. It is required for the degradation of malonic acid and methylmalonic acid and provides the precursor for mitochondrial fatty acid synthesis (mtFAS) and mitochondrial lysine malonylation. The enzyme belongs to the acyl-CoA synthetase family.

Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-13 is a protein that in humans is encoded by the GNG13 gene.

class of enzymes

PYCARD, often referred to as ASC (Apoptosis-associated speck-like protein containing a CARD), is a protein that in humans is encoded by the PYCARD gene. It is localized mainly in the nucleus of monocytes and macrophages. In case of pathogen infection, however, it relocalizes rapidly to the cytoplasm, perinuclear space, endoplasmic reticulum and mitochondria and it is a key adaptor protein in activation of the inflammasome.

protein-coding gene in the species Homo sapiens

protein-coding gene in the species Homo sapiens

Coactosin-like protein (COTL1 or CLP) is a protein that in humans is encoded by the COTL1 gene.

Origin recognition complex subunit 6 is a protein that in humans is encoded by the ORC6 (ORC6L) gene.

Protein CBFA2T3 (core-binding factor, runt domain, alpha subunit 2; translocated to, 3) is a protein that in humans is encoded by the CBFA2T3 gene.

ATP-binding cassette transporter sub-family C member 11, also MRP8 (Multidrug Resistance-Related Protein 8), is a membrane transporter that exports certain molecules from inside a cell. It is a protein that in humans is encoded by gene ABCC11.

Chloride channel 7 alpha subunit also known as H+/Cl− exchange transporter 7 is a protein that in humans is encoded by the CLCN7 gene. In melanocytic cells this gene is regulated by the Microphthalmia-associated transcription factor.

Tuberous sclerosis complex 2 (TSC2), also known as tuberin, is a protein that in humans is encoded by the TSC2 gene.

class of enzymes

Mesothelin, also known as MSLN, is a protein that in humans is encoded by the MSLN gene.

class of enzymes

protein-coding gene in the species Homo sapiens

Core-binding factor subunit beta is a protein that in humans is encoded by the CBFB gene.

family of transport proteins

Microtubule-associated proteins 1A/1B light chain 3B (hereafter referred to as LC3) is a protein that in humans is encoded by the MAP1LC3B gene. LC3 is a central protein in the autophagy pathway where it functions in autophagy substrate selection and autophagosome biogenesis. LC3 is the most widely used marker of autophagosomes.

mammalian protein found in Homo sapiens

protein-coding gene in the species Homo sapiens

Nuclear factor of activated T-cells 5, also known as NFAT5 and sometimes TonEBP, is a human gene that encodes a transcription factor that regulates the expression of genes involved in the osmotic stress.