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Beschreibung:
ADRM1 is a 407 amino acid protein that localizes to both the nucleus and the cytoplasm and is thought to be involved in protein recruitment and cell adhesion. An integral membrane protein, ADRM1 functions to recruit UCH-L5, a deubiquitinating enzyme, to the 26S proteasome, and once at the proteasome it promotes the activity of UCH-L5. Additionally, ADRM1 is thought to mediate lymphocyte adhesion in endothelial cells and may thus play a role in lymphocyte homing. ADRM1 expression is induced by IFN-g in some cancer cell lines and its expression is upregulated in other metastatic cells, suggesting a role in carcinogenesis. Two isoforms of ADRM1 exist due to alternative splicing events.
Beschreibung:
PHF2 is a 1,101 amino acid protein belonging to the PHD finger protein family. Members of the PHD finger protein family function as transcriptional regulators that affect gene expression by modulating chromatin structure. Expressed in a wide variety of tissues, PHF2 localizes to the nucleus and contains one PHD-type zinc finger and one JMJC domain, suggesting a possible role for PHF2 in transcription regulation and chromatin remodeling. The gene encoding PHF2 lies in the candidate region for hereditary sensory neuropathy type I (HSN1), a disorder characterized by sensory dysfunction. PHF2 exhists as two isoforms produced by alternative splicing, designated isoform 1 and 2 respectively.
Beschreibung:
ADRM1 is a 407 amino acid protein that localizes to both the nucleus and the cytoplasm and is thought to be involved in protein recruitment and cell adhesion. An integral membrane protein, ADRM1 functions to recruit UCH-L5, a deubiquitinating enzyme, to the 26S proteasome, and once at the proteasome it promotes the activity of UCH-L5. Additionally, ADRM1 is thought to mediate lymphocyte adhesion in endothelial cells and may thus play a role in lymphocyte homing. ADRM1 expression is induced by IFN-g in some cancer cell lines and its expression is upregulated in other metastatic cells, suggesting a role in carcinogenesis. Two isoforms of ADRM1 exist due to alternative splicing events.
Beschreibung:
ADRM1 is a 407 amino acid protein that localizes to both the nucleus and the cytoplasm and is thought to be involved in protein recruitment and cell adhesion. An integral membrane protein, ADRM1 functions to recruit UCH-L5, a deubiquitinating enzyme, to the 26S proteasome, and once at the proteasome it promotes the activity of UCH-L5. Additionally, ADRM1 is thought to mediate lymphocyte adhesion in endothelial cells and may thus play a role in lymphocyte homing. ADRM1 expression is induced by IFN-g in some cancer cell lines and its expression is upregulated in other metastatic cells, suggesting a role in carcinogenesis. Two isoforms of ADRM1 exist due to alternative splicing events.
Beschreibung:
A family of resistin-like molecules (RELMs) has been identified in rodents and humans. RELM alpha belongs to a unique family of tissue-specific cytokines termed FIZZ (found in inflammatory zone) and RELM. The three known members of this family; Resistin, RELM alpha and RELM beta are 85-94 amino acid secreted proteins sharing a conserved C-terminal domain. RELM alpha and Resistin are secreted exclusively by adipocytes while RELM beta is expressed in the epithelium of the colon and small bowel. The RELMs together with resistin comprise a class of tissue-specific signaling molecules. The physiological role and molecular targets of RELM alpha are still unknown.
Beschreibung:
Voltage-gated K+ channels in the plasma membrane are important regulators of electrical Signalling, controlling the repolarisation and the frequency of action potentials in neurons, muscles and other excitable cells. KCNT2 is a 1,135 amino acid multi-pass transmembrane protein belonging to the potassium channel family (calcium-activated subfamily) of proteins. KCNT2 produces rapidly activating outward rectifier potassium currents in reponse to high intracellular sodium and chloride levels. Its channel activity is inhibited by ATP, inhalation anesthetics, such as isoflourane, and upon stimulation of G-protein coupled receptors, such as mAChR M1 and GluR-1. There are four isoforms of KCNT2 that are produced as a result of alternative splicing events.
Beschreibung:
This gene encodes a member of the "fused gene" family of proteins, which contain N terminus EF hand domains and multiple tandem peptide repeats. The encoded protein contains two EF hand Ca2+ binding domains in its N terminus and two glutamine and threonine rich 60 amino acid repeats in its C terminus. This gene, also known as squamous epithelial heat shock protein 53, may play a role in the mucosal/epithelial immune response and epidermal differentiation.
Beschreibung:
RSHL3 is predicted to be a component of the radial spoke head based on homology with proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. RSHL3 (radial spoke head-like protein 3), also known as radial spoke head protein 4 homolog A, is a 716 amino acid protein that belongs to the flagellar radial spoke RSP4/6 family. Mutations in the RSHL3 gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Existing as three alternatively spliced isoforms, the RSHL3 gene contains 6 exons, is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, fruit fly and P.falciparum, and maps to human chromosome 6q22.1.
Beschreibung:
EYA3 is a 573 amino acid protein that localizes to both the nucleus and the cytoplasm and is one of several mammalian homologs of the Drosophila Eya (eyes absent) protein. Existing as two alternatively spliced isoforms, EYA3 possesses magnesium-catalyzed phosphatase activity and is thought to play a role in transcriptional regulation during organogenesis. Specifically, EYA3 interacts with proteins such as Six1 and, via this interaction, functions to activate the expression of genes that are involved in cellular proliferation and organ development. Upon DNA damage, EYA3 may be phosphorylated by ATM or ATR. The gene encoding EYA3 maps to chromosome 1, which spans about 260 million base pairs and comprises nearly 8% of the human genome.
Beschreibung:
ACSF1 is a 672 amino acid protein belonging to the ATP-dependent AMP-binding enzyme family. Encoded by a gene that maps to human chromosome 12q24.31, ACSF1 is highly expressed in kidney, heart and brain, and shows similar neural expression as HMGCR (3-hydroxy-3-methylglutaryl-CoA reductase). Existing as three alternatively spliced isoforms, ACSF1 participates in ATP binding, ligase activity, acetoacetate-CoA ligase activity and nucleotide binding. The ACSF1 promoter is a known PPAR?target gene, with the nuclear receptor recruited to the ACSF1 promoter by direct interaction with stimulating protein-1 (Sp1). ACSF1 activates acetoacetate and is highly regulated by modulators that affect HMGCR and cholesterol biosynthesis.
Beschreibung:
The RING-type zinc finger motif is present in a number of viral and eukaryotic proteins and is made of a conserved cysteine-rich domain that is able to bind two zinc atoms. Proteins that contain this conserved domain are generally involved in the ubiquitination pathway of protein degradation. MARCH10 (membrane-associated ring finger (C3HC4) 10), also known as RNF190 (ring finger protein 190) or MARCH-X, is an 808 amino acid protein with one RING-CH-type zinc finger domain. MARCH10 may function as an E3 ubiquitin-protein ligase that accepts a ubiquitin residue from an E2 ubiquitin-conjugating enzyme and immediately transfers that residue to a protein that is targeted for degradation.
Beschreibung:
ACSF1 is a 672 amino acid protein belonging to the ATP-dependent AMP-binding enzyme family. Encoded by a gene that maps to human chromosome 12q24.31, ACSF1 is highly expressed in kidney, heart and brain, and shows similar neural expression as HMGCR (3-hydroxy-3-methylglutaryl-CoA reductase). Existing as three alternatively spliced isoforms, ACSF1 participates in ATP binding, ligase activity, acetoacetate-CoA ligase activity and nucleotide binding. The ACSF1 promoter is a known PPAR?target gene, with the nuclear receptor recruited to the ACSF1 promoter by direct interaction with stimulating protein-1 (Sp1). ACSF1 activates acetoacetate and is highly regulated by modulators that affect HMGCR and cholesterol biosynthesis.
Beschreibung:
HS1BP3 is a 392 amino acid protein that contains one PX (phox homology) domain, a leucine zipper, immunoreceptor tyrosine-based inhibitory motif-like motifs and multiple proline-rich regions. Expressed primarily in brain, HS1BP3 is encoded by a gene mapping to human chromosome 2p24.1. The gene encoding HS1BP3 is frequently mutated in familial essential tremor, a disorder characterized by kinetic tremor the the hands, voice or head, though there is no correlation to Parkinson disease. HS1BP3 interacts with HAX-1’s SH3 domain, and may also play a role in the regulation of catecholamine and serotonin metabolism. Acting as a regulator of IL-2 signaling, HS1BP3 is likely involved in lymphocyte activation.
Beschreibung:
Cyclin dependent kinase 5 (Cdk5) is a key regulator of cell cycle progression in neuronal differentiation that physically associates with and is activated by the neuron-specific protein p35. CDK5RAP1 (Cdk5 regulatory subunit-associated protein 1), also known as Cdk5 activator-binding protein C42, is a 601 amino acid protein that specifically inhibits Cdk5 activation by p35 through formation of a dimer that inhibits kinase activity. CDK5RAP1 contains one TRAM domain, which is thought to bind tRNA and deliver the RNA-modifying enzymatic domain to its target. There are 4 named isoforms of CDK5RAP1 that are produced as a result of alternative splicing events and are expressed at high levels in heart and skeletal muscle.
Beschreibung:
EYA3 is a 573 amino acid protein that localizes to both the nucleus and the cytoplasm and is one of several mammalian homologs of the Drosophila Eya (eyes absent) protein. Existing as two alternatively spliced isoforms, EYA3 possesses magnesium-catalyzed phosphatase activity and is thought to play a role in transcriptional regulation during organogenesis. Specifically, EYA3 interacts with proteins such as Six1 and, via this interaction, functions to activate the expression of genes that are involved in cellular proliferation and organ development. Upon DNA damage, EYA3 may be phosphorylated by ATM or ATR. The gene encoding EYA3 maps to chromosome 1, which spans about 260 million base pairs and comprises nearly 8% of the human genome.
Beschreibung:
SHROOM1 is an 852 amino acid protein that contains one ASD1 domain and one ASD2 domain. Localized to both the cytoplasm and the cytoskeleton, SHROOM1 interacts with Actin and is thought to be involved in microtubule assembly during cell elongation, possibly playing a role in the development of the nervous system. Multiple isoforms of SHROOM1 exist due to alternative splicing events. The gene encoding SHROOM1 maps to human chromosome 5, which contains 181 million base pairs and comprises nearly 6% of the human genome. Deletion of the p arm of chromosome 5 leads to Cri du chat syndrome, while deletion of the q arm or of chromosome 5 altogether is common in therapy-related acute myelogenous leukemias and myelodysplastic syndrome.
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