| FAM131A | |||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | FAM131A , C3orf40, FLAT715, PRO1378, family with sequence similarity 131 member A | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | MGI: 1925658; HomoloGene: 82234; GeneCards: FAM131A; OMA:FAM131A - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
FAM131A (Family with Sequence Similarity 131 Member A) is a protein that is encoded by the FAM131A gene in humans. Aliases for FAM131A include C3orf40, FLAT715, and PRO1378. [5]
The gene, FAM131A, which is found on the plus strand of chromosome 3 (3q27.1), spans 7,847 base pairs in humans. [6] The FAM131A gene transcribes an mRNA sequence that is 2,437 nucleotides. [7] FAM131A is most highly expressed in the brain, [8] with a low tissue specificity. [9] [10]
The FAM131A protein in humans is 366 amino acids in length, with a theoretical molecular weight of 39.5 kDa and a theoretical isoelectric point of 4.59. [11] There have only been two isoforms found for the protein this gene encodes in humans, and isoform two is shorter at the N-terminus than isoform one due to amino acids 1-85 being absent in isoform two. [12] It was also determined that Asparagine, Threonine, and Isoleucine are represented less in the FAM131A protein in comparison to most human proteins. However, Serine is more highly represented in the FAM131A protein in comparison to most human proteins. [13] The FAM131A protein is predicted to be contained within the nucleus and in the nucleolus, [14] [15] and is predicted to be primarily localized to the nucleoli rim within the cell. [16]
Five different post-translational modification sites have been predicted for the FAM131A protein. These include three different theoretical sumoylation sites [18] and two different theoretical lysine acetylation sites. [19]
A few proteins have been found to be co-expressed alongside the FAM131 protein, including Von Willebrand Factor A Domain-Containing 5B2 (VWA5B2), [20] Grid 2 Interacting Protein (GRID2IP), [21] and Chordin (CHRD). [22] [23]
Orthologs were found for FAM131A in mammals (sequence identity ranging from 73.6%-92.3%), reptiles (sequence identity ranging from 48.5%-56.4%), birds (sequence identity ranging from 49.6%-54.0%), amphibians (sequence identity ranging from 47.1%-52.1%), and fish (sequence identity ranging from 26.2%-56.5%). [24] The furthest date of divergence was found in fish, specifically Pretromyzon marinus , otherwise known as the Sea lamprey, at 599 million years ago. [25] FAM131A was not found in any invertebrates, which could indicate that FAM131A is restricted to vertebrates.
| Species Name | Common Name | Date of Divergence (mya) | Accession Number | Sequence Length (AA) | Sequence Identity to Human Protein |
| Homo sapiens | Humans | 0 | NP_653236 | 366 | 100% |
| Mus musculus | House mouse | 87 | NP_598539 | 361 | 92.3% |
| Phascolarctos cinereus | Koala | 160 | XP_020861440 | 362 | 73.6% |
| Sarcophilus harrisii | Tasmanian devil | 160 | XP_031823960 | 283 | 64.1% |
| Alligator mississippiensis | American alligator | 319 | XP_019339708 | 324 | 56.4% |
| Gallus gallus | Chicken | 319 | XP_003641841 | 338 | 54.0% |
| Haliaeetus leucocephalus | Bald eagle | 319 | XP_010571279 | 275 | 49.6% |
| Aptenodytes forsteri | Emporer penguin | 319 | XP_009286349 | 275 | 49.6% |
| Python bivittatus | Burmese python | 319 | XP_025029736 | 302 | 48.5% |
| Rhinatrema bivittatum | Two-lined caecilian | 353 | XP_029472185 | 290 | 52.1% |
| Xenopus tropicalis | Tropical clawed frog | 353 | XP_004914460 | 344 | 50.0% |
| Rana temporaria | Common frog | 353 | XP_040205721 | 348 | 47.6% |
| Bufo bufo | Common toad | 353 | XP_040284457 | 261 | 47.1% |
| Protopterus annectens | West African lungfish | 408 | XP_043926343.1 | 361 | 56.5% |
| Danio rerio | Zebrafish | 431 | NP_001093625 | 293 | 43.4% |
| Oryzias latipes | Japanese rice fish | 431 | XP_004079308 | 338 | 34.4% |
| Cheilinus undulatus | Humphead wrasse | 431 | XP_041660114 | 318 | 31.4% |
| Amblyraja radiata | Thorny skate | 464 | XP_032888076 | 380 | 51.8% |
| Petromyzon marinus | Sea lamprey | 599 | XP_032802778 | 383 | 26.2% |
Studies have found having high expression of FAM131A is prognostically unfavorable for patients with ovarian cancer [26] or endometrial cancer. [27]
Interferon-inducible GTPase 5 also known as immunity-related GTPase cinema 1 (IRGC1) is an enzyme that in humans is coded by the IRGC gene. It is predicted to behave like other proteins in the p47-GTPase-like and IRG families. It is most expressed in the testis.
Transmembrane Protein 176B, or TMEM176B is a transmembrane protein that in humans is encoded by the TMEM176B gene. It is thought to play a role in the process of maturation of dendritic cells.
Chromosome 1 open reading frame 112, is a protein that in humans is encoded by the C1orf112 gene, and is located at position 1q24.2. C1orf112 encodes for seventeen variants of mRNA, fifteen of which are functional proteins. C1orf112 has a determined precursor molecular weight of 96.6 kDa and an isoelectric point of 5.62. C1orf112 has been experimentally determined to localize to the mitochondria, although it does not contain a mitochondrial targeting sequence.
Zinc finger CCHC-type containing 18 (ZCCHC18) is a protein that in humans is encoded by ZCCHC18 gene. It is also known as Smad-interacting zinc finger protein 2 (SIZN2), para-neoplastic Ma antigen family member 7b (PNMA7B), and LOC644353. Other names such as zinc finger, CCHC domain containing 12 pseudogene 1, P0CG32, ZCC18_HUMAN had been used to describe this protein.
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.
Cilia- and flagella-associated protein 299 (CFAP299), is a protein that in humans is encoded by the CFAP299 gene. CFAP299 is predicted to play a role in spermatogenesis and cell apoptosis.
Chromosome 1 Opening Reading Frame 94 or C1orf94 is a protein in human coded by the C1orf94 gene. The function of this protein is still poorly understood.
C12orf24 is a gene in humans that encodes a protein known as FAM216A. This gene is primarily expressed in the testis and brain, but has constitutive expression in 25 other tissues. FAM216A is an intracellular protein that has been predicted to reside within the nucleus of cells. The exact function of C12orf24 is unknown. FAM216A is highly expressed in Sertoli cells of the testis as well as different stage spermatids.
Leucine rich single-pass membrane protein 2 is a single-pass membrane protein rich in leucine, that in humans is encoded by the LSMEM2 gene. The LSMEM2 protein is conserved in mammals, birds, and reptiles. In humans, LSMEM2 is found to be highly expressed in the heart, skeletal muscle and tongue.
Chromosome 9 open reading frame 85, commonly known as C9orf85, is a protein in Homo sapiens encoded by the C9orf85 gene. The gene is located at 9q21.13. When spliced, four different isoforms are formed. C9orf85 has a predicted molecular weight of 20.17 kdal. Isoelectric point was found to be 9.54. The function of the gene has not yet been confirmed, however it has been found to show high levels of expression in cells of high differentiation.
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.
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.
GPATCH2L is a protein that is encoded by the GPATCH2L human gene located at 14q24.3. In humans, the length of mRNA in GPATCH2L (NM_017926) is 14,021 base pairs and the gene spans bases is 62,422 nt between chr14: 76,151,922 - 76,214,343. GPATCH2L is on the positive strand. IFT43 is the gene directly before GPATCH2L on the positive strand and LOC105370575 is the uncharacterized gene on the negative strand, which is approximately one and a half the size of GPATCH2L. Known aliases for GPATCH2L contain C14orf118, FLJ20689, FLJ10033, and KIAA1152. GPATCH2L produces 28 distinct introns, 17 different mRNAs, 14 alternatively spliced variants, and 3 unspliced forms. It has 5 probable alternative promoters, 7 validated polyadenylation sites, and 6 predicted promoters of varying lengths.
C4orf19 is a protein which in humans is encoded by the C4orf19 gene.
C2orf80 is a protein that, in humans, is encoded by the c2orf80 gene. The gene c2orf80 also goes by the alias GONDA1. In humans, c2orf80 is exclusively expressed in the brain. While relatively little is known about the function of c2orf80, medical studies have shown a strong association between variations in c2orf80 and IDH-mutant gliomas, 46,XY gonadal dysgenesis, and a possible association with blood pressure.
Chromosome 5 open reading frame 22 (c5orf22) is a protein-coding gene of poorly characterized function in Homo sapiens. The primary alias is unknown protein family 0489 (UPF0489).
THAP domain-containing protein 3 (THAP3) is a protein that, in Homo sapiens (humans), is encoded by the THAP3 gene. The THAP3 protein is as known as MGC33488, LOC90326, and THAP domain-containing, apoptosis associated protein 3. This protein contains the Thanatos-associated protein (THAP) domain and a host-cell factor 1C binding motif. These domains allow THAP3 to influence a variety of processes, including transcription and neuronal development. THAP3 is ubiquitously expressed in H. sapiens, though expression is highest in the kidneys.
Chromosome 13 Open Reading Frame 46 is a protein which in humans is encoded by the C13orf46 gene. In humans, C13orf46 is ubiquitously expressed at low levels in tissues, including the lungs, stomach, prostate, spleen, and thymus. This gene encodes eight alternatively spliced mRNA transcript, which produce five different protein isoforms.
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.
ZNF839 or zinc finger protein 839 is a protein which in humans is encoded by the ZNF839 gene. It is located on the long arm of chromosome 14. Zinc finger protein 839 is speculated to play a role in humoral immune response to cancer as a renal carcinoma antigen (NY-REN-50). This is because NY-REN-50 was found to be over expressed in cancer patients, especially those with renal carcinoma. Zinc finger protein 839 also plays a role in transcription regulation by metal-ion binding since it binds to DNA via C2H2-type zinc finger repeats.
