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Description:
DHRS7 (dehydrogenase/reductase (SDR family) member 7), also known as SDR34C1, CGI-86 or retSDR4, is a 339 amino acid member of the SDR family. Like other members of the SDR family, DHRS7 contains a cofactor-binding Rossman-fold domain and is thought to catalyze the oxidation and reduction of a variety of substrates such as steroids and retinoids. DHRS7 exists as two alternatively spliced isoforms that are encoded by a gene located on human chromosome 14, which houses over 700 genes and comprises nearly 3.5% of the human genome. Chromosome 14 encodes the presinilin 1 (PSEN1) gene, which is one of the three key genes associated with the development of Alzheimer's disease (AD). The SERPINA1 gene is also located on chromosome 14 and, when defective, leads to the genetic disorder ?-antitrypsin deficiency, which is characterized by severe lung complications and liver dysfunction.
Description:
DHRS7 (dehydrogenase/reductase (SDR family) member 7), also known as SDR34C1, CGI-86 or retSDR4, is a 339 amino acid member of the SDR family. Like other members of the SDR family, DHRS7 contains a cofactor-binding Rossman-fold domain and is thought to catalyze the oxidation and reduction of a variety of substrates such as steroids and retinoids. DHRS7 exists as two alternatively spliced isoforms that are encoded by a gene located on human chromosome 14, which houses over 700 genes and comprises nearly 3.5% of the human genome. Chromosome 14 encodes the presinilin 1 (PSEN1) gene, which is one of the three key genes associated with the development of Alzheimer's disease (AD). The SERPINA1 gene is also located on chromosome 14 and, when defective, leads to the genetic disorder ?-antitrypsin deficiency, which is characterized by severe lung complications and liver dysfunction.
Description:
C14orf174, is a 674 amino acid protein that contains one SAM (sterile alpha motif) domain. Existing as two alternatively spliced isoforms, C14orf174 is encoded by a gene that maps to human chromosome 14q24.3. Chromosome 14 contains about 700 genes and 106 million base pairs and makes up about 3.5% of human cellular DNA. Chromosome 14 encodes the presinilin 1 (PSEN1) gene, which is one of the three key genes associated with the development of Alzheimer's disease. The SERPINA1 gene is located on chromosome 14 and when defective leads to the genetic disorder antitrypsin deficiency. This disorder is characterized by severe lung complications and liver dysfunction. Notably, the immunoglobulin heavy chain locus is found on chromosome 14 and has been identified as a fusion with the chromosome 19 encoded protein Bcl-3 in the (14;19) translocations found in a variety of B cell malignancies.
Description:
GRINA Antibody: The transmembrane BAX inhibitor motif (TMBIM) family of proteins includes the founder member TMBIM6/BI-1, TMBIM1/RECS1 (responsive to centrifugal force and shear stress gene 1 protein), TMBIM2/LFG (life guard), TMBIM3/GRINA (glutamate receptor ionotropic NMDA protein 1), TMBIM4/GAAP (Golgi anti-apoptotic-associated protein), and TMBIM5/GHTIM (growth hormone-inducible transmembrane protein). They are highly conserved in mammals and zebrafish and contain a conserved BAX inhibitor-1 motif. GRINA is expressed in the brain and is a potential apoptotic regulator.
Description:
A DNA sequence encoding the mouse CADM3 (NP_444429.1) extracellular domain (Met 1-His 328) was expressed, with a polyhistidine tag at the C-terminus.
Description:
PIAS4(protein inhibitor of activated STAT protein 4) is also named as PIASG, PIASy and belongs to the PIAS family. It enhanced the conjugation of SUMO2 to GATA2 through its E3 SUMO ligase activity. TGF-b can up-regulates PLAS4 expression in MCs to down-regulatea-SMA gene transcription by the interaction with E12 and PLAS4 predominantly acts as E3 ligases for E12 in MCs among PIAS family members . This protein can be sumoylated and Lys-35 is the main site of sumoylation.
Description:
CGI-99 is a 244 amino acid protein that localizes to the nucleus, as well as to the cytoplasm, and belongs to the UPF0568 family. Expressed in a variety of tissues with particularly high levels in heart and skeletal muscle, CGI-99 functions as a homodimer that interacts with Ninein and is thought to regulate Ninein function. CGI-99 is overexpressed in brain tumor tissue, suggesting a role in tumor development and metastasis. The gene encoding CGI-99 maps to human chromosome 14, which houses over 700 genes and comprises nearly 3.5% of the human genome. Chromosome 14 encodes the presinilin 1 (PSEN1) gene, which is one of the three key genes associated with the development of Alzheimer's disease (AD). The SERPINA1 gene is also located on chromosome 14 and, when defective, leads to the genetic disorder ?-antitrypsin deficiency, which is characterized by severe lung complications and liver dysfunction.
Description:
DHRS7 (dehydrogenase/reductase (SDR family) member 7), also known as SDR34C1, CGI-86 or retSDR4, is a 339 amino acid member of the SDR family. Like other members of the SDR family, DHRS7 contains a cofactor-binding Rossman-fold domain and is thought to catalyze the oxidation and reduction of a variety of substrates such as steroids and retinoids. DHRS7 exists as two alternatively spliced isoforms that are encoded by a gene located on human chromosome 14, which houses over 700 genes and comprises nearly 3.5% of the human genome. Chromosome 14 encodes the presinilin 1 (PSEN1) gene, which is one of the three key genes associated with the development of Alzheimer's disease (AD). The SERPINA1 gene is also located on chromosome 14 and, when defective, leads to the genetic disorder ?-antitrypsin deficiency, which is characterized by severe lung complications and liver dysfunction.
Description:
DHRS7 (dehydrogenase/reductase (SDR family) member 7), also known as SDR34C1, CGI-86 or retSDR4, is a 339 amino acid member of the SDR family. Like other members of the SDR family, DHRS7 contains a cofactor-binding Rossman-fold domain and is thought to catalyze the oxidation and reduction of a variety of substrates such as steroids and retinoids. DHRS7 exists as two alternatively spliced isoforms that are encoded by a gene located on human chromosome 14, which houses over 700 genes and comprises nearly 3.5% of the human genome. Chromosome 14 encodes the presinilin 1 (PSEN1) gene, which is one of the three key genes associated with the development of Alzheimer's disease (AD). The SERPINA1 gene is also located on chromosome 14 and, when defective, leads to the genetic disorder ?-antitrypsin deficiency, which is characterized by severe lung complications and liver dysfunction.
Description:
Cytotoxic Tlymphocyte 4(CTLA-4,CD152), is a type I transmembrane T cell inhibitory molecule that is a member of the Ig superfamily. Human or mouse CTLA4 cDNA encodes 223 amino acids (aa) including a 35 aa signal sequence, a 126 aa extracellular domain (ECD) with one Ig-like V-type domain, a 21 aa transmembrane (TM) sequence, and a 41 aa cytoplasmic sequence.It is widely expressed with highest levels in lymphoid tissues. CD28 and CTLA-4, together with their ligands, B7-1 and B7-2, constitute one of the dominant costimulatory pathways that regulate T and B cell responses. CD28 and CTLA-4 are structurally homologous molecules that are members of the immunoglobulin (Ig) gene superfamily. CTLA4 transmits an inhibitory signal to T cells, whereas CD28 transmits a stimulatory signal. Intracellular CTLA4 is also found in regulatory T Cells and may play an important role in their functions. Tcell activation through the Tcell receptor and CD28 leads to increased expression of CTLA4.
Description:
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.
Description:
C14orf174, is a 674 amino acid protein that contains one SAM (sterile alpha motif) domain. Existing as two alternatively spliced isoforms, C14orf174 is encoded by a gene that maps to human chromosome 14q24.3. Chromosome 14 contains about 700 genes and 106 million base pairs and makes up about 3.5% of human cellular DNA. Chromosome 14 encodes the presinilin 1 (PSEN1) gene, which is one of the three key genes associated with the development of Alzheimer's disease. The SERPINA1 gene is located on chromosome 14 and when defective leads to the genetic disorder antitrypsin deficiency. This disorder is characterized by severe lung complications and liver dysfunction. Notably, the immunoglobulin heavy chain locus is found on chromosome 14 and has been identified as a fusion with the chromosome 19 encoded protein Bcl-3 in the (14;19) translocations found in a variety of B cell malignancies.
Description:
Belonging to the F-box family of proteins, FBXO35 (F-box only protein 35), also designated F-box and WD-40 domain-containing protein 12 (FBXW12 or FBXO12), is a 464 amino acid protein that contains one C-terminal F-box domain. F-box proteins are critical components of the SCF (Skp1-CUL-1-F-box protein)-type E3 ubiquitin ligase complex and are involved in substrate recognition and recruitment for ubiquitination. They are members of a larger family of proteins that are involved in the regulation of a wide variety of cellular mechanisms, including the cell cycle, the immune response, signaling cascades and developmental processes. They function by targeting proteins, such as cyclins, cyclin-dependent kinase inhibitors, IËšB-Ã¥ and -catenin, for degradation by the proteasome after ubiquitination. Via its F-box domain, FBXO35 can directly interact with Skp1 p19 and CUL-1. FBXO35 is ubiquitously expressed at low levels in most human tissues.
Description:
CGI-99 is a 244 amino acid protein that localizes to the nucleus, as well as to the cytoplasm, and belongs to the UPF0568 family. Expressed in a variety of tissues with particularly high levels in heart and skeletal muscle, CGI-99 functions as a homodimer that interacts with Ninein and is thought to regulate Ninein function. CGI-99 is overexpressed in brain tumor tissue, suggesting a role in tumor development and metastasis. The gene encoding CGI-99 maps to human chromosome 14, which houses over 700 genes and comprises nearly 3.5% of the human genome. Chromosome 14 encodes the presinilin 1 (PSEN1) gene, which is one of the three key genes associated with the development of Alzheimer's disease (AD). The SERPINA1 gene is also located on chromosome 14 and, when defective, leads to the genetic disorder ?-antitrypsin deficiency, which is characterized by severe lung complications and liver dysfunction.
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