KIAA1109 | |||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | KIAA1109 , 4932438A13Rik, 4732443H21, B830039D19Rik, D630029K19Rik, FSA, Kiaa1109, Tweek, ALKKUCS | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 611565 MGI: 2444631 HomoloGene: 52105 GeneCards: KIAA1109 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
|
Uncharacterized protein KIAA1109 is a protein that in humans is encoded by the KIAA1109 gene. [5] [6] [7]
This protein has a function that is not yet understood. KIAA1109 has 3 aliases, FSA (fragile site-associated) protein, MGC110967 and DKFZp781P0474. [8]
KIAA1109 is found on the long arm of chromosome 4 (4q27), with the genomic sequence starting at 118,818,167 bp and ending at 119,010,362 bp [9]
The gene neighborhood of KIAA1109 involves 4 other genes. KIAA1109 is a part of the KIAA1109/Tenr/IL2/IL21 gene region. This region consists of the three genes to the right of KIAA1109; ADAD1, IL2 and IL21. [10] Another gene located in the neighborhood of KIAA1109 is TRPC3. This gene is to the left of KIAA1109 on the opposite side of the genes described above. [8]
According to data on NCBI's EST Abundance Profile page for KIAA1109, the gene is expressed in many different tissues in humans. Human expression is seen most predominately in parathyroid, muscle, ear, eye, mammary gland, lymph node, thymus in addition to 27 other tissues. KIAA1109 is also expressed in various disease states including 12 different tumors as well as bladder carcinoma, chondrosarcoma, glioma, leukemia, lymphoma, non-neoplasia, retinoblastoma tissues. [11] KIAA1109 is expressed in all stages of development from embryoid body to adult, except in infants. No expression of my gene is seen during the infant stage of development. [11]
According to Genomatix's ElDorado program the promoter region of KIAA1109 is predicted to be 601 base pairs in length. The promoter region starts 500 base pairs upstream of the 5’ UTR of KIAA1109 mRNA transcript and contains part of this 5’ UTR. [12]
KIAA1109 is conserved throughout many species. Orthologs have been found in many mammals and other vertebrates. More distant homologs have been identified in animals such as insects. See the mRNA and protein conservation sections below for more details. No human paralogs for KIAA1109 have been identified. [13]
KIAA1109 has 13 mRNA splice variants and 6 unspliced variants. Variant A is the longest and most commonly occurring variant of the gene [14] and is the subject of this article. KIAA1109 variant A is made up of 84 exons and is 15,592 base pairs in length. [10] The accession number for this nucleotide is NM_015312.3.
The mRNA sequence of KIAA1109 is highly conserved throughout mammals. The mRNA sequence identity to mammals is no less than 81.9% (in platypus) and ranging up to 99.5% (in chimpanzees). [15] Birds also show fairly high conservation with mRNA sequence identities around 78% in zebra finches. The table blow shows information on the mRNA orthologs.
Genus and species name | Common name | mRNA accession number [16] | Sequence length (bp) [16] | Sequence identity to human mRNA [15] |
---|---|---|---|---|
Homo sapiens | Human | NM_015312.3 | 15592 | |
Pan troglodytes | Chimpanzee | XM_517422.2 | 15578 | 99.5% |
Macaca mulatta | Rhesus macaque | XM_001102884.2 | 15529 | 97.9% |
Callithris jacchus | Marmoset | XM_002745433.1 | 15566 | 97.2% |
Equus caballus | Horse | XM_001915982.1 | 15589 | 93.8% |
Ailuropoda melanoleuca | Giant panda | XM_002923821.1 | 15018 | 91% |
Oryctolagus cuniculus | Rabbit | XM_002717235.1 | 15015 | 90.7% |
Mus musculus | Mouse | NM_172679.2 | 15883 | 88.2% |
Monodelphis domestica | Opossum | XM_001370569.1 | 15048 | 82% |
Ornithorhynchus anatinus | Platypus | XM_001513933.1 | 15039 | 81.9% |
Taeniopygia guttata | Zebra finch | XM_002188249.1 | 15489 | 18.9% |
Gallus gallus | Chicken | XM_420625.2 | 15123 | 78.5% |
Tribolium castaneum | Red flour beetle | XM_967081.2 | 13797 | 48.6% |
KIAA1109 protein is 5005 amino acids in length, [17] and has a predicted molecular weight of 555519.38 daltons. [18] The isoelectirc point of KIAA1109 protein is predicted to be 6.12. [19]
The amino acid composition of KIAA1109 protein showed amino acid frequencies within 1.5% of that of normal human proteins for all but Alanine, Serine and Threonine. Alanine has a lower frequency in KIAA1109 than in that of a normal human protein while Serine and Threonine both have a higher frequency in KIAA1109 than in the average human protein. [20]
The amino acid sequence of KIAA1109 is highly conserved throughout mammals. The protein identity ranges from 93.2% in Opossum to 99.8% in Chimpanzees and protein similarity is no less than 97% in all mammals included. Birds continue to show fairly high conservation with protein identities around 90% and proteins similarities at a high 96%. While conservation is still high the lower numbers may be due to small truncations on either, the 5’ and 3’ ends of these sequences. [13]
As we move to the more distant species of zebra fish and then the red four beetle and carpenter ant the conservations drops. In the insects the protein identities are down to around 34%. [13]
Genus and species name | Common name | Protein accession number [16] | Sequence length (amino acids) [16] | Sequence identity to human protein [13] | Sequence similarity to human protein [13] |
---|---|---|---|---|---|
Homo sapiens | Human | NP_056127.2 | 5005 | ||
Pan troglodytes | Chimpanzee | XP_517422.2 | 5005 | 99.8% | 99.8% |
Macaca mulatta | Rhesus macaque | XP_001102884.1 | 5007 | 99.2% | 99% |
Callithris jacchus | Marmoset | XP_002745479.1 | 5004 | 98.9% | 99% |
Equus caballus | Horse | XP_001916017.1 | 5006 | 98% | 99% |
Ailuropoda melanoleuca | Giant panda | XP_002923867.1 | 5005 | 98.1% | 99% |
Oryctolagus cuniculus | Rabbit | XP_002717281.1 | 5004 | 97.8% | 99% |
Mus musculus | Mouse | NP_766267.2 | 5005 | 96.7% | 99% |
Canis familiaris | Dog | XP_540963.2 | 4944 | 96.4% | 99% |
Monodelphis domestica | Opossum | XP_001370606.1 | 5015 | 93.2% | 97% |
Ornithorhynchus anatinus | Platypus | XP_001513983.1 | 5012 | 93.3% | 97% |
Taeniopygia guttata | Zebra finch | XP_002188285.1 | 4999 | 90.7% | 96% |
Gallus gallus | Chicken | XP_420625.2 | 5040 | 89.9% | 96% |
Danio rerio | Zebra fish | NP_001139056.1 | 4922 | 74.2% | 84% |
Tribolium castaneum | Red flour beetle | XP_972174.2 | 4598 | 34.8% | 49% |
Camponotus floridanus | Carpenter ant | EFN75044.1 | 4979 | 34.3 |
NCBI conserved domains search identified two domains in KIAA1109. The first is the fragile site associated C-terminus, which is said to be linked to celiac disease susceptibility according to genome-wide-association studies and may also be associated with polycystic kidney disease. [21] The second conserved region identified by NCBI in KIAA1109 is an uncharacterized conserved protein (DUF2246), whose function is unknown and is conserved in various species from humans to worms. [22]
KIAA1109 is predicted to undergo various types of post translational modifications including glycate, N-glycosylation, O-GlcNAc, O Glycosylation, Sulfonation and Phosphorylation. [23]
KIAA1109 contains one transmembrane domain from amino acids 26–46. [17] No signal peptides, mitochondrial targeting sequences or chloroplast peptides were predicted for my protein and it is therefore not predicted to localize to secretory pathway, mitochondria or chloroplast. [24]
MADH2 and Beta-catenin were both found to have a physical interaction with my protein as detached by display technonloy by Miyamoto-Sato et al. 2010. [25] [26]
MORN1 containing repeat 1, also known as Morn1, is a protein that in humans is encoded by the MORN1 gene.
KIAA0895 is a protein that in Homo sapiens is encoded by the KIAA0895 gene. The gene encodes a protein commonly known as the KIAA0895 protein. Its aliases include hypothetical protein LOC23366, OTTHUMP00000206979, OTTHUMP00000206980, 9530077C05Rik, and 1110003N12Rik. It is located at 7p14.2.
Leucine rich repeat containing 40 (LRRC40) is a protein that in humans is encoded by the LRRC40 gene.
KIAA1704, also known as LSR7, is a protein that in humans is encoded by the GPALPP1 gene. The function of KIAA1704 is not yet well understood. KIAA1704 contains one domain of unknown function, DUF3752. The protein contains a conserved, uncharged, repeated motif GPALPP(GF) near the N terminus and an unusual, conserved, mixed charge throughout. It is predicted to be localized to the nucleus.
TMEM69, also known as Transmembrane protein 69, is a protein that in humans is encoded by the TMEM69 gene. A notable feature of the protein encoded by TMEM69 is the presence of five transmembrane segments.
Transmembrane protein 131-like, alternatively named uncharacterized protein KIAA0922, is an integral transmembrane protein encoded by the human gene KIAA0922 that is significantly conserved in eukaryotes, at least through protists. Although the function of this gene is not yet fully elucidated, initial microarray evidence suggests that it may be involved in immune responses. Furthermore, its paralog, prolyl endopeptidase (PREP) whose function is known, provides clues as to the function of TMEM131L.
Glutamine Serine Rich Protein 1 or QSER1 is a protein encoded by the QSER1 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.
PROSER2, also known as proline and serine rich 2, is a protein that in humans is encoded by the PROSER2 gene. PROSER2, or c10orf47(Chromosome 10 open reading frame 47), is found in band 14 of the short arm of chromosome 10 (10p14) and contains a highly conserved SARG domain. It is a fast evolving gene with two paralogs, c1orf116 and specifically androgen-regulated gene protein isoform 1. The PROSER2 protein has a currently uncharacterized function however, in humans, it may play a role in cell cycle regulation, reproductive functioning, and is a potential biomarker of cancer.
Chromosome 6 open reading frame 201, C6orf201, is a protein that in humans is encoded by the C6orf201 gene. In humans this gene encodes for a nuclear protein that is primarily expressed in the testis.
C6orf222 is a protein that in humans is encoded by the C6orf222 gene (6p21.31). C6orf222 is conserved in mammals, birds and reptiles with the most distant ortholog being the green sea turtle, Chelonia mydas. The C6orf222 protein contains one mammalian conserved domain: DUF3293. The protein is also predicted to contain a BH3 domain, which has predicted conservation in distant orthologs from the clade Aves.
Transmembrane protein 268 is a protein that in humans is encoded by TMEM268 gene. The protein is a transmembrane protein of 342 amino acids long with eight alternative splice variants. The protein has been identified in organisms from the common fruit fly to primates. To date, there has been no protein expression found in organisms simpler than insects.
FAM163A, also known as cebelin and neuroblastoma-derived secretory protein (NDSP) is a protein that in humans is encoded by the FAM163A gene. This protein has been implicated in promoting proliferation and anchorage-independent growth of neuroblastoma cancer cells. In addition, this protein has been found to be up-regulated in the lung tissue of chronic smokers. FAM163A is found on human chromosome 1q25.2; its protein product is 167 amino acids long. FAM163A contains a very highly conserved signal peptide sequence, coded for by the first ~37 amino acids in its sequence; albeit only conserved in eukaryotes, the most distant of which being the Japanese Rice Fish.
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.
Chromosome 9 open reading frame 50 is a protein that in humans is encoded by the C9orf50 gene. C9orf50 has one other known alias, FLJ35803. In humans the gene coding sequence is 10,051 base pairs long, transcribing an mRNA of 1,624 bases that encodes a 431 amino acid protein.
SMIM19, also known as Small Integral Membrane Protein 19, encodes the SMIM19 protein. SMIM19 is a confirmed single-pass transmembrane protein passing from outside to inside, 5' to 3' respectively. SMIM19 has ubiquitously high to medium expression with among varied tissues or organs. The validated function of SMIM19 remains under review because of on sub-cellular localization uncertainty. However, all linked proteins research to interact with SMIM19 are associated with the endoplasmic reticulum (ER), presuming SMIM19 ER association
C5orf24 is a protein encoded by the C5orf24 gene (5q31.1) in humans. C5orf24 is primarily localized to the nucleus and is highly conserved with orthologs in mammals, birds, reptiles, amphibians, and fish.
Transmembrane protein 212 is a protein that in humans is encoded by the TMEM212 gene. The protein consists of five transmembrane domains and localizes in the plasma membrane and endoplasmic reticulum. TMEM212 has orthologs in vertebrates but not invertebrates. TMEM212 has been associated with sporadic Parkinson's disease, facial processing, and adiposity in African Americans.
C13orf42 is a protein which, in humans, is encoded by the gene chromosome 13 open reading frame 42 (C13orf42). RNA sequencing data shows low expression of the C13orf42 gene in a variety of tissues. The C13orf42 protein is predicted to be localized in the mitochondria, nucleus, and cytosol. Tertiary structure predictions for C13orf42 indicate multiple alpha helices.
Secernin-3 (SCRN3) is a protein that is encoded by the human SCRN3 gene. SCRN3 belongs to the peptidase C69 family and the secernin subfamily. As a part of this family, the protein is predicted to enable cysteine-type exopeptidase activity and dipeptidase activity, as well as be involved in proteolysis. It is ubiquitously expressed in the brain, thyroid, and 25 other tissues. Additionally, SCRN3 is conserved in a variety of species, including mammals, birds, fish, amphibians, and invertebrates. SCRN3 is predicted to be an integral component of the cytoplasm.