Genes on human chromosome 22

Myoglobin (symbol Mb or MB) is an iron- and oxygen-binding protein found in the cardiac and skeletal muscle tissue of vertebrates in general and in almost all mammals. Myoglobin is distantly related to hemoglobin. Compared to hemoglobin, myoglobin has a higher affinity for oxygen and does not have cooperative binding with oxygen like hemoglobin does. Myoglobin consists of non-polar amino acids at the core of the globulin, where the heme group is non-covalently bounded with the surrounding polypeptide of myoglobin. In humans, myoglobin is found in the bloodstream only after muscle injury.

human chromosome

Clathrin is a protein that plays a role in the formation of coated vesicles. Clathrin was first isolated by Barbara Pearse in 1976. It forms a triskelion shape composed of three clathrin heavy chains and three light chains. When the triskelia interact they form a polyhedral lattice that surrounds the vesicle. The protein's name refers to this lattice structure, deriving from Latin clathri, meaning lattice. Barbara Pearse named the protein clathrin at the suggestion of Graeme Mitchison, selecting it from three possible options. Coat-proteins, like clathrin, are used to build small vesicles in o

Gamma-glutamyltransferase (also γ-glutamyltransferase, GGT, gamma-GT, gamma-glutamyl transpeptidase; ) is a transferase (a type of enzyme) that catalyzes the transfer of gamma-glutamyl functional groups from molecules such as glutathione to an acceptor that may be an amino acid, a peptide or water (forming glutamate). GGT plays a key role in the gamma-glutamyl cycle, a pathway for the synthesis and degradation of glutathione as well as drug and xenobiotic detoxification. Other lines of evidence indicate that GGT can also exert a pro-oxidant role, with regulatory effects at various levels in ce

thumb|350px|Norepinephrine degradation. Catechol-O-methyltransferase is shown in green boxes. 'Catechol-O-methyltransferase (COMT'; ) is one of several enzymes that degrade catecholamines (neurotransmitters such as dopamine, epinephrine, and norepinephrine), catecholestrogens, and various drugs and substances having a catechol structure. In humans, catechol-O-methyltransferase protein is encoded by the COMT gene. Two isoforms of COMT are produced: the soluble short form (S-COMT) and the membrane bound long form (MB-COMT). As the regulation of catecholamines is impaired in a number of medical c

Cytochrome P450 2D6 (CYP2D6) is an enzyme that in humans is encoded by the CYP2D6 gene. CYP2D6 is primarily expressed in the liver. It is also highly expressed in areas of the central nervous system, including the substantia nigra.

InterPro Family

class of enzymes

mammalian protein found in Homo sapiens

Neurofilaments (NF) are classed as type IV intermediate filaments found in the cytoplasm of neurons. They are protein polymers measuring 10 nm in diameter and many micrometers in length. Together with microtubules (~25 nm) and microfilaments (7 nm), they form the neuronal cytoskeleton. They are believed to function primarily to provide structural support for axons and to regulate axon diameter, which influences nerve conduction velocity. The proteins that form neurofilaments are members of the intermediate filament protein family, which is divided into six types based on their g

protein-coding gene in the species Homo sapiens

mammalian protein found in Homo sapiens

Activating transcription factor 4 (tax-responsive enhancer element B67), also known as ATF4, is a protein that in humans is encoded by the ATF4 gene.

mammalian protein found in Homo sapiens

protein-coding gene in the species Homo sapiens

protein-coding gene in the species Homo sapiens

class of enzymes

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

protein family

InterPro Family

DNA replication licensing factor MCM5 is a protein that in humans is encoded by the MCM5 gene.

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

MKL/megakaryoblastic leukemia 1 (also termed MRTFA/myocardin related transcription factor A) is a protein that in humans is encoded by the MKL1 gene.

Parvalbumin (PV) is a calcium-binding protein with low molecular weight (typically 9–11 kDa). In humans, it is encoded by the PVALB gene. It is a member of the albumin family; it is named for its size (parv-, from Latin '''' which means "small") and its ability to coagulate.

protein-coding gene in the species Homo sapiens

protein-coding gene in the species Homo sapiens

Beta-parvin is a protein that in humans is encoded by the PARVB gene.

cell surface protein binding somatostatin and triggering intracellular changes

X-box binding protein 1, also known as XBP1, is a protein which in humans is encoded by the XBP1 gene. The XBP1 gene is located on chromosome 22 while a closely related pseudogene has been identified and localized to chromosome 5. The XBP1 protein is a transcription factor that regulates the expression of genes important to the proper functioning of the immune system and in the cellular stress response.

lymphocyte receptor specific for Interleukin-2

mammalian protein found in Homo sapiens

mammalian protein found in Homo sapiens

CHEK2 (Checkpoint kinase 2) is a tumor suppressor gene that encodes the protein CHK2, a serine-threonine kinase. CHK2 is involved in DNA repair, cell cycle arrest or apoptosis in response to DNA damage. Mutations to the CHEK2 gene have been linked to a wide range of cancers.

protein family

Cat eye syndrome critical region protein 1 is a protein that in humans is encoded by the CECR1 gene.

ADP-ribosylation factor GTPase-activating protein 3 is a protein that in humans is encoded by the ARFGAP3 gene.

mammalian protein found in Homo sapiens

Activating signal cointegrator 1 complex subunit 2 is a protein that in humans is encoded by the ASCC2 gene.

group of transport proteins

Rac2 (Ras-related C3 botulinum toxin substrate 2) is a small (~21 kDa) signaling G protein (to be specific, a GTPase), and is a member of the Rac subfamily of the family Rho family of GTPases. It is encoded by the gene RAC2.

Calcineurin-binding protein cabin-1 is a protein that in humans is encoded by the CABIN1 gene.

DNA-directed RNA polymerases I, II, and III subunit RPABC2 is a protein that in humans is encoded by the POLR2F gene.

Galectin-1 is a protein that in humans is encoded by the LGALS1 gene.

KIAA0930 is a protein that, in humans, is encoded by the KIAA0930 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.

Membrane protein MLC1 is a protein that in humans is encoded by the MLC1 gene.

HMOX1 (heme oxygenase 1 gene) is a human gene that encodes for the enzyme heme oxygenase 1 (). Heme oxygenase (abbreviated HMOX or HO) mediates the first step of heme catabolism, it cleaves heme to form biliverdin.

Cysteine-rich with EGF-like domain protein 2 is a protein that in humans is encoded by the CRELD2 gene found on chromosome 22q13. It is a known homolog of CRELD1. CRELD2's identifying feature is a tryptophan-aspartic acid domain. It is a multifunctional glycoprotein that is approximately 60 kilodaltons and can reside in the endoplasmic reticulum (ER) or Golgi apparatus and be secreted spontaneously. It is implicated in numerous ER stress-related diseases including chronic liver disease, cardiovascular disease, kidney disease, and cancer.

family of protein complexes

The DGCR2 gene encodes the protein integral membrane protein DGCR2/IDD in humans.

Ku70 is a heterodimeric protein made up of Ku70 and Ku80, which together form Ku. In humans, is encoded by the XRCC6 gene. Ku70 plays a critical role in the DNA repair, maintenance and many other cellular processes.

Platelet-derived growth factor subunit B is a protein that in humans is encoded by the PDGFB gene.

Beta-crystallin B1 is a protein that in humans is encoded by the CRYBB1 gene. Variants in CRYBB1 are associated with autosomal dominant congenital cataract.

Histone acetyltransferase p300 also known as p300 HAT or E1A-associated protein p300 (where E1A = adenovirus early region 1A) also known as EP300 or p300 is an enzyme that, in humans, is encoded by the EP300 gene. It functions as histone acetyltransferase that regulates transcription of genes via chromatin remodeling by allowing histone proteins to wrap DNA less tightly. This enzyme plays an essential role in regulating cell growth and division, prompting cells to mature and assume specialized functions (differentiate), and preventing the growth of cancerous tumors. The p300 protein appears to

Target of Myb protein 1 is a protein that in humans is encoded by the TOM1 gene.

POZ-, AT hook-, and zinc finger-containing protein 1 is a protein that in humans is encoded by the PATZ1 gene.

Septin-5 is a protein that in humans is encoded by the SEPT5 gene.

Protein DGCR6 is a protein that in humans is encoded by the DGCR6 gene.