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Making up nearly 6% of the human genome, chromosome 6 contains around 1200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer, suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatibility complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf120 gene product has been provisionally designated C6orf120 pending further characterisation.

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E3 ubiquitin-protein ligase that mediates polyubiquitination of CD4. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. May play a role in ubuquitin-dependent protein sorting in developmenting spermatids.

Supplier: Bioss

E3 ubiquitin-protein ligase that mediates polyubiquitination of CD4. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. May play a role in ubuquitin-dependent protein sorting in developmenting spermatids.

Supplier: Bioss

Implicated in the regulation of centrosome duplication (By similarity). Component of the cytosolic iron-sulfur (Fe/S) protein assembly machinery. Required for maturation of extramitochondrial Fe/S proteins. May bind and transfer 2 labile 4Fe-4S clusters to target apoproteins.

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Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. In the retina, plays an important role in the renewal of the outer photoreceptor disks. Plays an important role in the distribution and migration of retinal pigment epithelial (RPE) melanosomes and phagosomes, and in the regulation of opsin transport in retinal photoreceptors. In the inner ear, plays an important role in differentiation, morphogenesis and organisation of cochlear hair cell bundles. Involved in hair-cell vesicle trafficking of aminoglycosides, which are known to induce ototoxicity (By similarity). Motor protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.

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Myo-inositol is involved in many important aspects of cellular regulation including membrane structure, signal transduction and osmoregulation. It is taken up into cells by the sodium/myo-inositol cotransporter (SMIT). SMIT activity maintains intracellular concentrations of myo-inositol; it is upregulated in response to hypertonic stress. The human SMIT protein is encoded by the SLC5A3 gene, which maps to chromosome 21q22.12. It is expressed in many human tissues, such as brain, kidney and placenta. Specifically, SMIT is abundantly expressed throughout the whole brain and spinal cord in fetal rat, but is downregulated in adult rat brain with the exception of the choroid plexus, where SMIT expression remains high. In kidney, SMIT localizes to the baso-lateral membranes of the thick ascending limb of Henle (TAL) and the inner medullary collecting duct (IMCD). Impaired SMIT activity is implicated in the pathogenesis of diabetes and Down syndrome.

Supplier: Bioss

Plays a role in lipoprotein assembly and dietary cholesterol absorption. In addition to its acyltransferase activity, it may act as a ligase. May provide cholesteryl esters for lipoprotein secretion from hepatocytes and intestinal mucosa.

Supplier: Bioss

Calcium signaling in mitochondria is important in order for it to function in response to a variety of extracellular stimuli. Signaling begins with Ca(2+) entry in mitochondria via the Ca(2+) uniporter followed by Ca(2+) activation of three dehydrogenases in the mitochondrial matrix. ARALAR, the neuronal Ca(2+)-binding mitochondrial aspartate-glutamate carrier, has Ca(2+) binding domains facing the extramitochondrial space and functions in the malate-aspartate NADH shuttle (MAS). ARALAR is encoded by the SLC25A12 gene and is expressed in brain and skeletal muscle. ARALAR is required for the synthesis of brain aspartate and N-acetylaspartatemay and plays a role in myelin formation. It is also essential for the transmission of small Ca(2+) signals to mitochondria via an increase in mitochondrial NADH. In addition, ARALAR is implicated in conferring susceptibility to schizophrenia.

Supplier: Bioss

Involved in T-cell activation, the induction of cell proliferation and cytokine production and promotion of T-cell survival.

Supplier: Bioss

The activation of RaP1 by cAMP is independent of PKA and is mediated by recently discovered family of guanine nucleotide exchange factors (GEFs) called cAMP-GEFs or Epacs. The Epac signaling therefore represents a novel mechanism for cAMP signaling with in the cAMP cascade. There are 2 members of the Epac family, Epac1 and Epac 2. Both proteins are multidomain proteins containing an autoinhibitory cAMP-binding domain that inhibits the catalytic region and a DEP domain (dishevelled, Egl-10 and pleckstrin homology domain) targeting the membrane anchors. EPAC2 has an additional cAMP-binding site in its N-terminus that binds cAMP with low affinity. EPAC1 mRNA is broadly expressed, with particularly high levels occurring in the thyroid, ovary, kidney and certain brain regions, whereas expression of EPAC2 mRNA appears to be restricted to the brain and adrenal glands. Epac 1 and Epac 2 also interact with light chain 2 (LC2) or MAP1A that serves as a scaffolding structure to stabilize the signal transduction complex. The Epac 1-selective were generated against unique antigenic sequences form near N-terminus and between RasGEFN and Ras GEF domains. The to Epac 1are affinity purified over immobilized antigen based chromatography.

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Hepatitis C virus NS5B.

Supplier: Bioss

The gene encoding human Membralin, C19orf6, localizes to chromosome 19p13.3. It contains 11 exons, which encode at least two splice variants in human cancer. Membralin is a multi-pass membrane protein and exists either as a long or short form. The long form of Membralin comprises all 11 exons, while the short form contains all exons except exon 10. Expression of different Membralin isoforms depends on tissue type. The long form is expressed in ovarian and colorectal carcinomas, whereas the short form is expressed in breast or pancreatic carcinomas. Because Membralin expression in ovarian carcinomas is highest in serous carcinomas as compared to surface epithelium carcinomas, expression of Membralin may be useful as a novel tumor-associated marker in ovarian serous carcinomas.

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GNB2 belongs to the WD repeat G protein beta family. Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.

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Has growth cone collapse activity against retinal ganglion-cell axons.

Supplier: Bioss

Has growth cone collapse activity against retinal ganglion-cell axons.

Supplier: Bioss

Heterotrimeric guanine nucleotide binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. GNB1 is a beta subunit. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.

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PJA2, also known as E3 ubiquitin-protein ligase praja-2, RNF131 (ring finger protein 131) or Neurodap1, is a 708 amino acid protein that contains one ring-type zinc finger and exists as two alternatively spliced isoforms. Significantly conserved in chimpanzee, dog, cow, mouse, rat, chicken and zebrafish, PJA2 shares 52% identity with PJA1, which is involved in protein ubiquitination in brain and may play a role in X-linked mental retardation. Encoded by a gene that maps to human chromosome 5q21.3, PJA2 localizes to both endoplasmic reticulum and Golgi apparatus membranes. Participating in E2-dependent, E3 ubiquitin-protein ligase activity, PJA2 binds to a variety of E2s and interacts with ubiquitin-conjugating enzymes, such as UBE2D2, in vitro.

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The Annexins constitute a family of structurally-related, relatively abundant proteins that exhibit Ca2+-dependent binding to phospholipids. Annexins function in multiple aspects of cell biology including regulation of membrane trafficking, transmembrane channel activity, inhibition of phospholipase A2, inhibition of coagulation and mediation of cell-matrix interactions. Annexin A13 is considered the original progenitor of the 12 members of vertebrate Annexins. The expression of Annexin A13 is highly tissue-specific, being expressed only in intestinal and kidney epithelial cells. This expression is associated with a highly differentiated intracellular transport function. Two alternative splicing isoforms of Annexin A13 exist, both of which bind to rafts.

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The deduced 257 amino acid protein PACRG (Parkin co-regulated gene) shows potential links to the ubiquitin/proteasome system. PACRG and Parkin are attached in a head-to-head arrangement on opposite DNA strands and share a common 5' flanking promoter region. The PACRG gene maps to chromosome 6q26; Northern blot analysis detects PACRG expression in all tissues examined except placenta. Using a positional cloning strategy in 197 Vietnamese leprosy simplex families (i.e. families with two unaffected parents and one affected child), significant connections between leprosy and 17 markers in the 5' regulatory region that PARK2 and PACRG share were observed. Possession of two or more of the 17 risk alleles is highly predictive of leprosy.PACRG is a gene located very close to parkin, in reverse orientation on the chromosome. It is thought to be co-transcribed with parkin by a bi-directional promoter between the two genes.

Supplier: Bioss

The Annexins constitute a family of structurally-related, relatively abundant proteins that exhibit Ca2+-dependent binding to phospholipids. Annexins function in multiple aspects of cell biology including regulation of membrane trafficking, transmembrane channel activity, inhibition of phospholipase A2, inhibition of coagulation and mediation of cell-matrix interactions. Annexin A13 is considered the original progenitor of the 12 members of vertebrate Annexins. The expression of Annexin A13 is highly tissue-specific, being expressed only in intestinal and kidney epithelial cells. This expression is associated with a highly differentiated intracellular transport function. Two alternative splicing isoforms of Annexin A13 exist, both of which bind to rafts.

Supplier: Bioss

The deduced 257 amino acid protein PACRG (Parkin co-regulated gene) shows potential links to the ubiquitin/proteasome system. PACRG and Parkin are attached in a head-to-head arrangement on opposite DNA strands and share a common 5' flanking promoter region. The PACRG gene maps to chromosome 6q26; Northern blot analysis detects PACRG expression in all tissues examined except placenta. Using a positional cloning strategy in 197 Vietnamese leprosy simplex families (i.e. families with two unaffected parents and one affected child), significant connections between leprosy and 17 markers in the 5' regulatory region that PARK2 and PACRG share were observed. Possession of two or more of the 17 risk alleles is highly predictive of leprosy.PACRG is a gene located very close to parkin, in reverse orientation on the chromosome. It is thought to be co-transcribed with parkin by a bi-directional promoter between the two genes.

Supplier: Bioss

The cystatin superfamily is a well-established family of cysteine protease inhibitors. All true cystatins inhibit cysteine peptidases of the papain family, such as cathepsins, while some also inhibit legumain family enzymes. The CRES (cystatin-related epididymal spermatogenic) protein defines a new subgroup in the family 2 cystatins of the cystatin superfamily. CRES proteins lack two of the three consensus sites necessary for the cystatin inhibition of C1 cysteine proteases. Due to their expression patterns, it is likely that CRES proteins may perform unique and tissue-specific functions in the reproductive and neuroendocrine systems. As a member of the CRES subfamily, Cystatin 9, also designated CLM, is a 159 amino acid protein that is expressed in heart, placenta, lung, liver, skeletal muscle and pancreas. Cystatin 9 is thought to play a role in hematopoietic differentiation or inflammation. It has also been shown to be upregulated by LPS in some cancer cell lines, such as promyelocytic leukemia (HL-60) and myelomonocytic leukemia.

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Thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle contraction. It is capable of binding to actin, calmodulin, troponin C and tropomyosin. The interaction of calponin with actin inhibits the actomyosin Mg-ATPase activity (By similarity).

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FADS1 is a component of a lipid metabolic pathway that catalyses biosynthesis of highly unsaturated fatty acids from precursor essential polyunsaturated fatty acids, linoleic acid and alphanlinolenic acid. It catalyses the desaturation of dihomo gamma linoleic acid and eicosatetraenoic acid to generate arachidonic acid and eicosapentaenoic acid respectively.

Supplier: Bioss

The Annexins are a family of structurally similar proteins. Annexins bind to phospholipids and may be involved in regulation of membrane transport, membrane channel activity, and interaction of the cell membrane with the extracellular matrix. Annexin A7 is a member of the annexin family of calcium dependent phospholipid binding proteins. The Annexin A7 gene contains 14 exons and spans approximately 34 kb of DNA. Structural analysis of the protein suggests that Annexin A7 is a membrane binding protein with diverse properties including voltage sensitive calcium channel activity, ion selectivity and membrane fusion.

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NHE-3 are integral membrane proteins that are expressed in most mammalian tissues, where they regulate intracellular pH and cell volume. NHEs mediate the transport of hydrogen (H+) ions out of cells in exchange for extracellular sodium (Na+) ions. While NHE-1 is ubiquitously expressed, the NHE isoforms 2-8 have distinct tissue- and cell type-dependent expression and inhibitory characteristics. NHE-3 localises to the apical membrane of renal proximal tubules where it is responsible for most of the sodium transport and fluid reabsorption. NHE-3 translocates to internal pools where it mediates natriuresis when blood pressure increases abruptly. NHE-3 is also expressed in the stomach and functions to protect the mucosa by secreting protons that diffuse into the mucous cells.

Supplier: Bioss

E3 ubiquitin-protein ligase that acts as a coactivator of JUN-mediated gene activation in response to growth factor signaling via the MAP3K1 pathway, independently from MAPK8.

Supplier: Bioss

E3 ubiquitin-protein ligase that acts as a coactivator of JUN-mediated gene activation in response to growth factor signaling via the MAP3K1 pathway, independently from MAPK8.

Supplier: Bioss

E3 ubiquitin-protein ligase that acts as a coactivator of JUN-mediated gene activation in response to growth factor signaling via the MAP3K1 pathway, independently from MAPK8.

Supplier: Bioss

Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types. SFRP2 may be important for eye retinal development and for myogenesis.