| FAM83H | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | FAM83H , AI3, family with sequence similarity 83 member H, AI3A | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 611927 MGI: 2145900 HomoloGene: 15890 GeneCards: FAM83H | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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FAM83H is a protein, which in humans is encoded by the FAM83H gene. The protein is also known as uncharacterized protein FAM83H. FAM83H is targeted for the nucleus. It is predicted to play a role in the structural development and calcification of tooth enamel.
FAM83H is located on the long arm of chromosome 8 (8q24.3), starting at 143723933 and ending at 143738030. The FAM83H gene spans 14097 base pairs and is orientated on the—strand. The coding region is made up of 5,604 base pairs and 5 exons. [5]
FAM83H is ubiquitously expressed throughout the human body at relatively low levels. [6] [7]
In humans, there is only one known major product of the FAM83H gene. [8] [9] [10]
Below is a table of orthologs to the human FAM83H protein. The table include closely, intermediately and distantly related orthologs.
Orthologs of the human protein FAM83H are listed above in descending order or date of divergence and then ascending order of percent identity. FAM83H is highly conserved throughout all orthologs, demonstrated by a 40% identity in the least similar ortholog. FAM83H has evolved slowly and evenly over time. [12] [13]
The molecular weight of FAM83H is 127.1kD and contains 1179 amino acids. The isoelectric point is 6.52. There are no significant positive or negative charge clusters in the protein. There is a stretch of 21 0’s from 254-275 and a stretch of 24 0’s from 420-444.1 [14]
FAM83H is proline rich, being 10.32% protein, and is asparagine deficient with only 1.1%. The percent composition of each amino acid is fairly consistent throughout the orthologs of the protein. The most distant ortholog displays the most variance in amino acid composition.
FAM83H has two known domains. The PLDc_FAM83H (phospholipase like domain) domain stretches from 17-281 on FAM83H. It lacks the functionally important histidine, so while it may share similar structure it most likely lacks PLD activity. The MIP-T3 microtubule binding domain stretches from 909-1176. [15]
FAM83H is highly phosphorylated post modification. There are 11 predicted phosphorylated sites. There are two motifs with high probability of post translational modification sumoylation sites. Sumoylation sites are involved in a number of cellular processes, including nuclear-cytosolic transport, transcriptional regulation and protein stability. FAM83H does not have a signal peptide
Fam83H is primarily composed of alpha helices and random coils. Alpha helices comprise the majority of the protein. There is a transmembrane domain from 231-252. [16] [17]
FAM83H was found to interact with WDR72 and MMP20. [19] MMP20 is responsible for the breakdown of extracellular matrix and plays a role in tissue remodeling in ameloblasts. mutations in WDR72 is thought to play a role in amelogenesis imperfecta
People who suffer from amelogenesis imperfecta have lost function in FAM83H. [20] [21]
Enamelin is an enamel matrix protein (EMPs), that in humans is encoded by the ENAM gene. It is part of the non-amelogenins, which comprise 10% of the total enamel matrix proteins. It is one of the key proteins thought to be involved in amelogenesis. The formation of enamel's intricate architecture is thought to be rigorously controlled in ameloblasts through interactions of various organic matrix protein molecules that include: enamelin, amelogenin, ameloblastin, tuftelin, dentine sialophosphoprotein, and a variety of enzymes. Enamelin is the largest protein (~168kDa) in the enamel matrix of developing teeth and is the least abundant of total enamel matrix proteins. It is present predominantly at the growing enamel surface.
Ameloblastin is an enamel matrix protein that in humans is encoded by the AMBN gene.
Amelogenin, X isoform is a protein that in humans is encoded by the AMELX gene. AMELX is located on the X chromosome and encodes a set of isoforms of amelogenin by alternative splicing. Amelogenin is an extracellular matrix protein involved in the process of amelogenesis, the formation of enamel on teeth.
Matrix metalloproteinase-20 (MMP-20) also known as enamel metalloproteinase or enamelysin is an enzyme that in humans is encoded by the MMP20 gene.
Uncharacterized protein KIAA0895-like also known as LOC653319, is a protein that in humans is encoded by the KIAA0895L gene.
WD repeat-containing protein 72 is a protein that in humans is encoded by the WDR72 gene. WDR72 contains 7 WD40 repeats, which are predicted to form the blades of a 7 beta propeller structure.
Amelogenesis imperfecta (AI) is a congenital disorder which presents with a rare abnormal formation of the enamel or external layer of the crown of teeth, unrelated to any systemic or generalized conditions. Enamel is composed mostly of mineral, that is formed and regulated by the proteins in it. Amelogenesis imperfecta is due to the malfunction of the proteins in the enamel as a result of abnormal enamel formation via amelogenesis.
FAM20A is a protein that in humans is encoded by the FAM20A gene.
Glutamine Serine Rich Protein 1 or QSER1 is a protein encoded by the QSER1 gene.
SH3D21 is a nuclear protein that is encoded by the SH3D21 gene. In humans, this gene is located on chromosome 1 p34.3. The human mRNA transcript is 2527 base pairs and the final protein product is 756 amino acids. While the exact function of this protein remains unknown, due to the presence of three SH3 domains, it has been implicated in protein-protein interactions.
KIAA1841 is a gene in humans that encodes a protein known as KIAA1841. KIAA1841 is targeted for the nucleus and it predicted to play a role in regulating transcription.
Sodium/potassium/calcium exchanger 4 also known as solute carrier family 24 member 4 is a protein that in humans is encoded by the SLC24A4 gene.
C8orf48 is a protein that in humans is encoded by the C8orf48 gene. C8orf48 is a nuclear protein specifically predicted to be located in the nuclear lamina. C8orf48 has been found to interact with proteins that are involved in the regulation of various cellular responses like gene expression, protein secretion, cell proliferation, and inflammatory responses. This protein has been linked to breast cancer and papillary thyroid carcinoma.
Glutamate rich protein 5 is a protein in humans encoded by the ERICH5 gene, also known as chromosome 8 open reading frame 47 (C8orf47).
Chromosome 21 Open Reading Frame 58 (C21orf58) is a protein that in humans is encoded by the C21orf58 gene.
C6orf136 is a protein in humans encoded by the C6orf136 gene. The gene is conserved in mammals, mollusks, as well some porifera. While the function of the gene is currently unknown, C6orf136 has been shown to be hypermethylated in response to FOXM1 expression in Head Neck Squamous Cell Carcinoma (HNSCC) tissue cells. Additionally, elevated expression of C6orf136 has been associated with improved survival rates in patients with bladder cancer. C6orf136 has three known isoforms.
Family with sequence 98, member C or FAM98C is a gene that encodes for FAM98C has two aliases FLJ44669 and hypothetical protein LOC147965. FAM98C has two paralogs in humans FAM98A and FAM98B. FAM98C can be characterized for being a Leucine-rich protein. The function of FAM98C is still not defined. FAM98C has orthologs in mammals, reptiles, and amphibians and has a distant orhtologs in Rhinatrema bivittatum and Nanorana parkeri.
C4orf19 is a protein which in humans is encoded by the C4orf19 gene.
Chromosome 5 Open Reading Frame 47, or C5ORF47, is a protein which, in humans, is encoded by the C5ORF47 gene. It also goes by the alias LOC133491. The human C5ORF47 gene is primarily expressed in the testis.
Coiled-coil domain-containing 184 (CCDC184) is a protein which, in humans, is encoded by the CCDC184 gene
