| FAM221A | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | FAM221A , C7orf46, family with sequence similarity 221 member A | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | MGI: 2442161 HomoloGene: 18214 GeneCards: FAM221A | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Family with sequence similarity 221 member A is a protein in humans that is encoded by the FAM221A gene. FAM221A is a gene that is not yet well understood by the scientific community. However, it appears that this gene may have a role in Parkinson's disease and prostate cancer.
FAM221A is located on Chromosome 7. Its exact location is 7p15.3. [5] It has one alias, which is C7orf46. [6]
FAM221A has higher levels of expression in the liver, brain, fetal brain, thyroid and colon, but FAM221A has the highest level of expression in the spinal cord, pancreas and retina. [7]
The promoter region of FAM221A is 1222 base pairs long. This was found using ElDorado at Genomatix. [8]
The molecular weight of FAM221A is 33.1 kDa, [9] and the isoelectric point is 6.01. [10] Relative to other proteins in humans, FAM221A has a lower level of asparagine. [9]
Post-translational modifications of FAM221A include phosphorylation sites, glycosylation sites and sulfation sites. These have been conserved in mammals other than Homo sapiens, including the macaque, whale, finch and sometimes alligator. These sites were predicted using NetPhos 3.1, [11] YinOYang 1.2 [12] and The Sulfinator. [13]
Key structures predicted in FAM221A are random coils and alpha helices, with 71% of the protein being random coils and 21% being helices. Extended strands were also found with 7% of the protein being these. Secondary structure was predicted using RaptorX, [14] and a diagram of the predicted secondary structure is included below.
There exists one paralog for FAM221A: FAM221B. This diverged from FAM221A approximately 1781 million years ago.
Orthologs have been found in mammals, birds, reptiles and fish. FAM221A has also been conserved in invertebrates, but the similarity levels decrease at a faster rate. Orthologs were discovered using BLAST [15] and BLAT. [16] While these are not the only orthologs that exist for FAM221A, a table of 20 orthologs is provided below. The ortholog with no accession number was created using BLAT.
| Species | Common Name | Divergence (mya) | Accession Number | Length (aa) | % Identity | % Similarity |
|---|---|---|---|---|---|---|
| Homo sapiens | Human | 0 | NP_954587.2 | 298 | 100 | 100 |
| Macaca nemestrina | Southern pig-tailed macaque | 28.1 | XP_011729478.1 | 298 | 96 | 96 |
| Condylura cristata | Star-nosed mole | 94 | XP_004677186.2 | 284 | 90 | 94 |
| Cervus elaphus hippelaphus | Central European red deer | 94 | OWK06795.1 | 289 | 90 | 93 |
| Delphinapterus leucas | Beluga whale | 94 | XP_022440764.1 | 298 | 90 | 92 |
| Alligator mississippiensis | American alligator | 320 | KYO26809.1 | 366 | 78 | 86 |
| Phalacrocorax carbo | Great cormorant | 320 | KFW96932.1 | 258 | 77 | 87 |
| Lonchura striata domestica | Society finch | 320 | XP_021393915.1 | 298 | 76 | 85 |
| Pelodiscus sinensis | Chinese softshell turtle | 320 | XP_014436679.1 | 236 | 76 | 85 |
| Gallus Gallus | Red junglefowl | 320 | XP_418719.1 | 296 | 75 | 84 |
| Crocodylus porosus | Saltwater crocodile | 320 | XP_019390202.1 | 236 | 75 | 84 |
| Amphiprion ocellaris | Ocellaris clownfish | 432 | XP_023141881.1 | 248 | 63 | 75 |
| Salvelinus alpinus | Arctic char | 432 | XP_023832019.1 | 372 | 59 | 71 |
| Esox lucius | Northern pike | 432 | XP_010891304.1 | 332 | 55 | 69 |
| Ciona intestinalis | Vase tunicate | 678 | N/A | 212 | 77 | 87 |
| Stylophora pistillata | Stylophora pistillata | 685 | XP_022787363.1 | 344 | 58 | 73 |
| Schistosoma haematobium | Uniary blood fluke | 692 | XP_012794504.1 | 241 | 45 | 61 |
| Crassostrea virginica | Eastern oyster | 794 | XP_022337450.1 | 324 | 59 | 72 |
| Mizuhopecten yessoensis | Patinopecten yessoensis | 794 | XP_021377417.1 | 326 | 55 | 70 |
| Phytophthora nicotianae | Black shank | 1781 | KUF80258.1 | 297 | 34 | 48 |
| Chrysochromulina sp. CCMP291 | Chrysochromulina tobin | 1781 | KOO33212.1 | 280 | 28 | 42 |
To understand the times when FAM221A diverged from different species, a graph was created. This compares the evolutionary history of FAM221A to Fibrinogen, which evolves quickly, and Cytochrome C, which evolves slowly. As seen in the graph, FAM221A diverges from other species at a moderate pace.
FAM221A has a relatively high amount of expression in the brain [17] and has been seen to have an association with neurodegenerative disorders such as Parkinson's disease [17] and Alzheimer's disease. [18] FAM221A has also been seen to have a higher level of expression in those who have prostate cancer versus healthy individuals. [19] Furthermore, FAM221A has also been expressed in those with colorectal tumors. [20]
Three interacting proteins were found, which are SNX2, SNX5 and SNX6.
SNX2 and SNX6 share the same function, which is being involved in the stages of intracellular trafficking. SNX5 facilitates cargo retrieval from endosomes to the trans-golgi network.
DGLUCY is a protein that in humans is encoded by the DGLUCY gene.
Protein YIF1A is a Yip1 domain family proteins that in humans is encoded by the YIF1A gene.
Transmembrane protein 8B is a protein that in humans is encoded by the TMEM8B gene. It encodes for a transmembrane protein that is 338 amino acids long, and is located on human chromosome 9. Aliases associated with this gene include C9orf127, NAG-5, and NGX61.
Uncharacterized protein C1orf21, also known as Proliferation-Inducing Protein 13, is a protein that in humans is encoded by the C1orf21 gene. C1orf21 is an intracellular protein that flows between the nucleus and the cytoplasm in the cell. It has been linked with cell growth and reproduction and there has been strong links with various types of cancers. There are no paralogs for this gene, however, many conserved orthologs have been found in all invertebrates. C1orf21 has low to moderate level of expression in most tissues in humans, however, it has the most expression in the skin, lung and prostate.
Protein FAM83A also known as tumor antigen BJ-TSA-9 is a protein that in humans is encoded by the FAM83A gene.
Coiled-coil domain 47 (CCDC47) is a gene located on human chromosome 17, specifically locus 17q23.3 which encodes for the protein CCDC47. The gene has several aliases including GK001 and MSTP041. The protein itself contains coiled-coil domains, the SEEEED superfamily, a domain of unknown function (DUF1682) and a transmembrane domain. The function of the protein is unknown, but it has been proposed that CCDC47 is involved in calcium ion homeostasis and the endoplasmic reticulum overload response.
Transmembrane protein 251, also known as C14orf109 or UPF0694, is a protein that in humans is encoded by the TMEM251 gene. One notable feature of this protein is the presence of proline residues on one of its predicted transmembrane domains., which is a determinant of the intramitochondrial sorting of inner membrane proteins.
FAM71E1, also known as Family With Sequence Similarity 71 Member E1, is a protein that in humans is encoded by the FAM71E1 gene. It is thought to be ubiquitously expressed at low levels throughout the body, and it is conserved in vertebrates, particularly mammals and some reptiles. The protein is localized to the nucleus and can be exported to the cytoplasm.
Chromosome 3 open reading frame 67 or C3orf67 is a protein that in humans is encoded by the gene C3orf67. The function of C3orf67 is not yet fully understood.
LOC101059915 is a protein, which in humans is encoded by the LOC101059915 gene. It is located on the X chromosome and has restricted expression in the testis.
Proline-rich basic protein 1(PROB1) is a protein encoded by the PROB1 gene located on human chromosome 5, open reading frame 65. PROB1 is also known as C5orf65 and weakly similar to basic proline-rich protein.
Chromosome X Open Reading Frame 38 (CXorf38) is a protein which, in humans, is encoded by the CXorf38 gene. CXorf38 appears in multiple studies regarding the escape of X chromosome inactivation.
Golgin subfamily A member 8H, also known as GOLGA8H, is a protein that in Homo sapiens is encoded by the GOLGA8H gene. Function of the GOLGA8H involves a process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the Golgi apparatus.
LOC101928193 is a protein which in humans is encoded by the LOC101928193 gene. There are no known aliases for this gene or protein. Similar copies of this gene, called orthologs, are known to exist in several different species across mammals, amphibians, fish, mollusks, cnidarians, fungi, and bacteria. The human LOC101928193 gene is located on the long (q) arm of chromosome 9 with a cytogenic location at 9q34.2. The molecular location of the gene is from base pair 133,189,767 to base pair 133,192,979 on chromosome 9 for an mRNA length of 3213 nucleotides. The gene and protein are not yet well understood by the scientific community, but there is data on its genetic makeup and expression. The LOC101928193 protein is targeted for the cytoplasm and has the highest level of expression in the thyroid, ovary, skin, and testes in humans.
C22orf23 is a protein which in humans is encoded by the C22orf23 gene. Its predicted secondary structure consists of alpha helices and disordered/coil regions. It is expressed in many tissues and highest in the testes and it is conserved across many orthologs.
Chromosome 1 open reading frame 185, also known as C1orf185, is a protein that in humans is encoded by the C1orf185 gene. In humans, C1orf185 is a lowly expressed protein that has been found to be occasionally expressed in the circulatory system.
C16orf90 or chromosome 16 open reading frame 90 produces uncharacterized protein C16orf90 in homo sapiens. C16orf90's protein has four predicted alpha-helix domains and is mildly expressed in the testes and lowly expressed throughout the body. While the function of C16orf90 is not yet well understood by the scientific community, it has suspected involvement in the biological stress response and apoptosis based on expression data from microarrays and post-translational modification data.
Transmembrane protein 247 is a multi-pass transmembrane protein of unknown function found in Homo sapiens encoded by the TMEM247 gene. Notable in the protein are two transmembrane regions near the c-terminus of the translated polypeptide. Transmembrane protein 247 has been found to be expressed almost entirely in the testes.
Family with Sequence Similarity 166, member C (FAM166C), is a protein encoded by the FAM166C gene. The protein FAM166C is localized in the nucleus. It has a calculated molecular weight of 23.29 kDa. It also contains DUF2475, a protein of unknown function from amino acid 19–85. The FAM166C protein is nominally expressed in the testis, stomach, and thyroid.
Chromosome 17 open reading frame 75 is a protein that in humans is encoded by the C17orf75 gene. C17orf75 is also known as SRI2 and is a human protein encoding gene located at 17q11.2 on the complementary strand. The protein this gene encodes is also known as NJMU-R1. The C17orf75 gene is ubiquitously expressed at medium-low levels throughout the body and at slightly higher levels in the brain and testes. This protein is thought to be part of a complex associated with golgin-mediated vesicle capture.
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