| LRRIQ1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | LRRIQ1 , leucine rich repeats and IQ motif containing 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | MGI: 1922228 HomoloGene: 46007 GeneCards: LRRIQ1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Leucine-rich repeats and IQ motif containing 1 is a protein that in humans is encoded by the LRRIQ1 gene. [5] The protein is likely a nuclear encoding mitochondrial protein [6] and is found in all Metazoans. [7]
LRRIQ1 is mapped on chromosome 12, at 12q21.31in humans. LRRIQ1 is near ALX1 on the positive strand, and TSPAN19 and SLC6115 on the negative strand. It covers 208.78kb, from 85430099 to 8563881 on the direct strand. The gene contains 36 exons. [8]
The gene contains 31 distinct introns, and the transcript produces 10 different mRNAs. LRRIQ1 has two validated alternative polyadenylation sites. The most common isoform consists of 5,460 base pairs in length, and includes 28 of the total 29 exons. [7] Primates have an elongated 3’ end compared to other mammalian species. Reptiles, birds, and fish also have a truncated 3’end, compared to primate transcripts. [9]
The protein is a nuclear encoding mitochondrial protein. [6] The protein in humans has 1760 amino acids. The protein is considered largely neutral, though 17% of the primary structure is composed of the hydrophobic leucine-rich repeats. [10]
The leucine-rich repeat forms a structural horseshoe shape, which encourages protein-protein interactions. The most common translated isoform has a predicted molecular weight of 199.3 kdal. [5] [10] Compared to an average of human sequences, the internal composition is rich in Leucine, Glutamic Acid, and Lysine. [11]
LRRIQ1 contains an IQ calmodulin-binding motif found in one isoform. The isoform contains three copies and serves as a binding site for Calmodulin or CaM-like proteins. [5] The Leucine-Rich Repeat domain is found in three isoforms of LRRIQ1. LRRIQ1 contains 4 Leucine Rich Repeats (LRR). The LRR motif provides a structural frame work for the formation of protein-protein interactions, forming a coiled horseshoe shape. [10]
There are no known paralogs of LRRIQ1 detected in humans.
There are many orthologs of LRRIQ1. Orthologous LRRIQ1 is found in all metazoans. LRRIQ1 is not found in Plants, Bacteria, Archaea, Fungi, or protists. The most distant homolog is found in Drosophila melanogaster [9] (estimated time of divergence 847 million years ago [12] ). The IQ-containing motif and Leucine-rich repeats domains are conserved in Drosophila.
The LRRIQ1 gene has been shown to be highly conserved. The gene has true orthologs throughout the taxa mammal and is found in all Metazoans. The time of divergence versus the corrected % divergence (m) was plotted with samples from human, gorilla, domesticate cat, bison, orca whale, Arabian camel, domestic horse, African Bush Elephant, Bald Eagle, Adelie Penguin, Japanese Gecko, Carolina Anole, and Western Clawed Frog. [9] [12] To make slopes for Fibrinogen (considered a comparatively rapidly evolving protein) and Cytochrome C (comparatively slower), Xenopus tropical, Xenopus laevis, Takifugu rubripes, and Bos Taurus were utilized for comparison.
LRRIQ1 is lowly expressed (0.6 times the average gene) in lung, testis, epithelial tissue, pooled germ cell tumors, brain tissues, embryonic tissues, and adipose tissues. [7]
The presence of the Leucine-Rich Repeat motif provides structural framework for protein-protein interactions. HES4 is the only identified protein that interacts with LRRIQ1. [13]
HES4, is a transcription factor found in humans. The protein binds DNA on N-box motifs. [14]
To date, the clinical significance of this gene is not known.
Chitinase domain-containing protein 1 (CHID1) is a highly conserved protein of unknown function located on the short (p) arm of chromosome 11 near the telomere. The protein has 27 introns, which allows for many isoforms of this gene. It has several aliases, the most common of which is Stabilin-1 interacting chitinase-like protein (SI-CLP). As indicated by the alias, CHID1 is known to interact with the protein STAB1. CHID1 is expressed ubiquitously at levels nearly 6 times the average gene, and is conserved very far back to organisms such as Caenorhabditis elegans and possibly some prokaryotes. This protein is known to have carbohydrate binding sites, which could be involved in carbohydrate catabolysis.
LOC105377021 is a protein which in humans is encoded by the LOC105377021 gene. LOC105377021 exhibits expressional pathology related to breast cancer, specifically triple negative breast cancer. LOC105377021 contains a serine rich region in addition to predicted alpha helix motifs.
TMEM156 is a gene that encodes the transmembrane protein 156 (TMEM156) in Homo sapiens. It has the clone name of FLJ23235.
Leucine rich repeat containing 24 is a protein that, in humans, is encoded by the LRRC24 gene. The protein is represented by the official symbol LRRC24, and is alternatively known as LRRC14OS. The function of LRRC24 is currently unknown. It is a member of the leucine-rich repeat (LRR) superfamily of proteins.
Trinucleotide repeat containing 18 is a protein that in humans is encoded by the TNRC18 gene.
BEND2 is a protein that in humans is encoded by the BEND2 gene. It is also found in other vertebrates, including mammals, birds, and reptiles. The expression of BEND2 in Homo sapiens is regulated and occurs at high levels in the skeletal muscle tissue of the male testis and in the bone marrow. The presence of the BEN domains in the BEND2 protein indicates that this protein may be involved in chromatin modification and regulation.
Transmembrane and coiled-coil domains 4, TMCO4, is a protein in humans that is encoded by the TMCO4 gene. Currently, its function is not well defined. It is transmembrane protein that is predicted to cross the endoplasmic reticulum membrane three times. TMCO4 interacts with other proteins known to play a role in cancer development, hinting at a possible role in the disease of cancer.
SHLD1 or shieldin complex subunit 1 is a gene on chromosome 20. The C20orf196 gene encodes an mRNA that is 1,763 base pairs long, and a protein that is 205 amino acids long.
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.
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.
C15orf39 is a protein that in humans is encoded by the Chromosome 15 open reading frame 15 (C15orf39) gene.
Chromosome 9 open reading frame 25 (C9orf25) is a domain that encodes the FAM219A gene. The terms FAM219A and C9orf25 are aliases and can be used interchangeably. The function of this gene is not yet completely understood.
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.
LRRIQ3, which is also known as LRRC44, is a protein that in humans is encoded by the LRRIQ3 gene. It is predominantly expressed in the testes, and is linked to a number of diseases.
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.
KRBA1 is a protein that in humans is encoded by the KRBA1 gene. It is located on the plus strand of chromosome 7 from 149,411,872 to 149,431,664. It is also commonly known under two other aliases: KIAA1862 and KRAB A Domain Containing 1 gene and encodes the KRBA1 protein in humans. The KRBA family of genes is understood to encode different transcriptional repressor proteins
ProteinFAM89A is a protein which in humans is encoded by the FAM89A gene. It is also known as chromosome 1 open reading frame 153 (C1orf153). Highest FAM89A gene expression is observed in the placenta and adipose tissue. Though its function is largely unknown, FAM89A is found to be differentially expressed in response to interleukin exposure, and it is implicated in immune responses pathways and various pathologies such as atherosclerosis and glioma cell expression.
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.
In humans, the immunoglobulin super family containing leucine-rich repeat (ISLR) protein is encoded by the ISLR gene. Current RNA-seq studies show that the protein is highly expressed in the endometrium and ovary and shows expression among 25 other tissues. The protein is seen localized in the cytoplasm, plasma membrane, extracellular exosome, and platelet alpha granule lumen. Furthermore, the protein is known to play a role in platelet degranulation, cell adhesion, and response to elevated platelet cytosolic Ca2+.
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.
