| FAM135B | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | FAM135B , C8ORFK32, family with sequence similarity 135 member B | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | MGI: 1917613 HomoloGene: 66605 GeneCards: FAM135B | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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FAM135B is a human gene coding for a protein of unknown function. [5] It is well conserved in primates, rodents, zebra fish. It has one paralog, FAM135A.
FAM135B is located on the long arm of Chromosome 8 in humans on the anti-sense located at 24.23. [5] The following genes are near FAM135B on the chromosome:
FAM135B is expressed in the brain, ear, eye, pancreas and testis. [6] Within the brain, expression is apparent within the motor nucleus of trigeminal [7] In addition, it is mainly expressed in normal health states, although it has shown moderate expression in glioma, non-neoplasima as well as expression in germ cell tumors. [6]
FAM135B has shown to interact with KAT5, a gene that encodes for a histone acetyltransferase [8] through yeast two-hybrid experimentation.
The protein encoded on FAM135 is 1406 amino acids long. The protein contains a region called DUF676, believed to be a putative serine esterase as well as two protein regions called DUF3657. [5]
FAM135B has shown to be expressed in individuals with extrapulmonary tuberculosis. [9]
Protein kinase C gamma type is an enzyme that in humans is encoded by the PRKCG gene.
Opsin-3 also known as encephalopsin or panopsin is a protein that, in humans, is encoded by the OPN3 gene. Alternative splicing of this gene results in multiple transcript variants encoding different protein isoforms.
GPR113 is a gene that encodes the Probable G-protein coupled receptor 113 protein.
POU domain, class 3, transcription factor 2 is a protein that in humans is encoded by the POU3F2 gene.
PNKD is the abbreviation for a human neurological movement disorder paroxysmal nonkinesiogenic dyskinesia. Like many other human genetics disorders, PNKD also refers to the disease, the disease gene and the encoded protein. (PNKD) is a protein that in humans is encoded by the PNKD gene. Alternative splicing results in the transcription of three isoforms. The mouse ortholog is called brain protein 17 (Brp17).
Neurogenic differentiation factor 2 is a protein that in humans is encoded by the NEUROD2 gene.
Homeobox protein DLX-2 is a protein that in humans is encoded by the DLX2 gene.
Forkhead box protein F1 (FOXF1) is a protein that in humans is encoded by the FOXF1 gene.
Protein Red is a protein that in humans is encoded by the IK gene.
Transcription factor SOX-8 is a protein that in humans is encoded by the SOX8 gene.
Serine/threonine-protein kinase DCLK1 is an enzyme that in humans is encoded by the DCLK1 gene.
Myosin-XVIIIb is a protein that in humans is encoded by the MYO18B gene.
FRA10AC1 is a protein that in humans is encoded by the FRA10AC1 gene.
Homeobox protein Nkx-6.2 is a protein that in humans is encoded by the NKX6-2 gene.
Aquaporin-6, (AQP-6) also known as kidney-specific aquaporin is a protein in humans that is encoded by the AQP6 gene.
Dehydrogenase/reductase member 7B is an enzyme encoded by the DHRS7B gene in humans, found on chromosome 17p11.2. DHRS7B encodes a protein that is predicted to function in steroid hormone regulation. A deletion in the chromosomal region 17p11.2 has been associated with Smith-Magenis Syndrome, a genetic developmental disorder.
Protein FAM114A1 also known as nervous system overexpressed protein 20 (NOXP20) is a protein that in humans is encoded by the FAM114A1 gene. Orthologs of FAM114A1 can be found in organisms as taxonomically distant from Homo sapiens as Drosophila. However, as expected, human FAM114A! is more like that of primates than any other orthologs. FAM114A1 has one paralog, FAM114A2, which also encodes a protein of unknown function.
MAX dimerization protein 3 is a protein that in humans is encoded by the MXD3 gene located on Chromosome 5.
Neuronatin (Nnat) is a protein coding gene involved in mammalian brain development. It is located on Chromosome 20 in humans and is only expressed from the paternal allele in normal adults. It encodes the protein neuronatin, a proteolipid, that functions in the control of ion channels during brain development. Neuronatin begins the differentiation of pluripotent stem cells into cells with a neural fate by increasing their calcium levels. Neuronatin expression in neural tissues throughout the brain contributes to development of the nervous system. It is also expressed in several tissues outside of the brain. For example, expression in skin cells controls the differentiation of keratinocytes. Neuronatin expression functions not only in development, but other processes throughout the body. It also plays a direct and indirect role in diabetes. Increased expression in pancreatic islet beta cells causes the beta form of the protein to build an aggregate structure. This causes the cells to undergo apoptosis, thus leading to diabetes mellitus. Its effects on glycogen metabolism through the dephosphorylation and activation of the enzyme glycogen synthase may also play an indirect role in contributing to the disease. A different type of malformation in the gene also has the potential to cause a variety of cancers. Contained within the promoter region of the gene are three CpG islands. These imprint regions function in the regulation of gene expression through the process of cytosine methylation. The loss of methylation within these areas triggers an irregular cell growth, resulting in embryonic neoplasms.
Chromosome 19 open reading frame 44 is a protein that in humans is encoded by the C19orf44 gene. C19orf44 is an uncharacterized protein with an unknown function in humans. C19orf44 is non-limiting implying that the protein exists in other species besides human. The protein contains one domain of unknown function (DUF) that is highly conserved throughout its orthologs. This protein is most highly expressed in the testis and ovary, but also has significant expression in the thyroid and parathyroid. Other names for this protein include: LOC84167.
