QRICH1 | |||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | QRICH1 , glutamine rich 1, VERBRAS, AB-DIP | ||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 617387; MGI: 1916482; HomoloGene: 9803; GeneCards: QRICH1; OMA:QRICH1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||
Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||
|
QRICH1, also known as Glutamine-rich protein 1, is a protein that in humans is encoded by the QRICH1 gene. [5] One notable feature of this protein is that it contains a Caspase Activation Recruitment Domain, also known as a CARD domain. [6] As a result of having this domain, QRICH1 is believed to be involved in apoptotic, inflammatory, and host-immune response pathways. [7]
Accession Numbers | Location | Identifiers | M.W. | pI |
---|---|---|---|---|
mRNA: NM_017730.2 protein: NP_060200.2 | 3p21.31 | FLJ20259, MFC131838 [5] | 86.4 kDa | 5.59 |
The QRICH1 gene is 64,363 base pairs long, encoding an mRNA transcript that is 3331 bp in length. [8] QRICH1 is located on chromosome 3p21.31 and contains 11 exons. [9] The genomic sequence begins at base pair 49,057,531 and ends at base pair 49,141,201. [8]
The exact function of QRICH1 is not well understood by the scientific community. It is, however, thought to be involved in processes such as inflammation and apoptosis due to the presence of a CARD domain near the beginning of the protein sequence. [7] This protein is predicted to localize to the nucleus and is known to interact with the ATXN1 and ATF7IP proteins shown in the image below. [11]
The glutamine-rich protein 1 is 776 amino acids in length. Glutamine residues are abundant, comprising 109 of the amino acids or 14% of the protein. [12] The protein contains three distinct domains. The first, a CARD domain, is a member of the death fold superfamily and is involved in apoptosis signaling pathways, immune signaling, inflammation, and host-defense mechanisms. [6] The second domain is a glutamine-rich domain which comprises a majority of the protein and is highly conserved among orthologs. [6] The final domain is a Domain of unknown function (DUF3504) found near the end of the protein sequence. [6] All three of these domains are well conserved throughout strict orthologs.
Properties of QRICH1 that were predicted using Bioinformatics tools:
QRICH1 is expressed at a high level, 3.3 times the average gene. [22] It is expressed ubiquitously throughout the human body, although EST Profile data reveal that QRICH1 is expressed particularly high in tissues such as the thymus, testis, cerebellar cortex and other areas of the brain, trachea, and in embryonic tissue. Health states such as germ cell tumors, leukemia, lymphoma, and chondrosarcoma have also reported high QRICH1 expression.
QRICH1 is highly conserved among mammalian orthologs, along with other chordates such as fish, birds, and amphibians. The gene has some conservation among insects, but there were no orthologs found in plants, fungi, or yeast. [23]
Genus/species | Organism common name | Accession number | Sequence identity | Sequence similarity | Length (AAs) | |
---|---|---|---|---|---|---|
Pan troglodytes | Chimpanzee | XP_001161499.1 | 99% | 99% | 766 | |
Macaca mulatta | Rhesus macaque | XP_001110386.2 | 99% | 99% | 659 | |
Pongo abelii | Orangutan | XP_002813809.1 | 99% | 99% | 777 | |
Mus musculus | House mouse | NP_780352.2 | 99% | 99% | 777 | |
Rattus norvegicus | Norway rat | NP_001128004.1 | 99% | 99% | 687 | |
Canis familiaris | Dog | XP_850904.1 | 99% | 99% | 780 | |
Bos taurus | Cow | NP_001091484.1 | 99% | 99% | 779 | |
Sus scrofa | Wild boar | XP_003132250.1 | 99% | 99% | 781 | |
Oryctolagus cuniculus | European rabbit | XP_002713458.1 | 99% | 99% | 777 | |
Ailuropoda melanoleuca | Giant panda | XP_002920598.1 | 99% | 99% | 780 | |
Callithrix jacchus | Marmoset | XP_002758378.1 | 99% | 99% | 777 | |
Equus caballus | Horse | XP_001498380.2 | 98% | 98% | 780 | |
Monodelphis domestica | Opossum | XP_001367745.1 | 95% | 97% | 776 | |
Gallus gallus | Chicken | XP_001233527.1 | 94% | 96% | 773 | |
Ornithorhynchus anatinus | Platypus | XP_001505372.1 | 94% | 95% | 741 | |
Taeniopygia guttata | Zebra finch | XP_002187824.1 | 93% | 97% | 772 | |
Xenopus laevis | African clawed frog | NP_001083416.1 | 79% | 85% | 755 | |
Tetraodon nigroviridis | Pufferfish | CAG11318.1 | 71% | 80% | 729 | |
Danio rerio | Zebra fish | NP_001020633.1 | 63% | 73% | 717 | |
Apis mellifera | Bee | XP_624959.2 | 47% | 64% | 1356 | |
Camponotus floridanus | Carpenter ant | EFN71787.1 | 45% | 63% | 1724 | |
QRICH1 has five paralogs all of which encode a zinc finger protein. [24]
E3 ubiquitin-protein ligase RNF128 is an enzyme that in humans is encoded by the RNF128 gene.
INAVA, sometimes referred to as hypothetical protein LOC55765, is a protein of unknown function that in humans is encoded by the INAVA gene. Less common gene aliases include FLJ10901 and MGC125608.
Protein FAM46B also known as family with sequence similarity 46 member B is a protein that in humans is encoded by the FAM46B gene. FAM46B contains one protein domain of unknown function, DUF1693. Yeast two-hybrid screening has identified three proteins that physically interact with FAM46B. These are ATX1, PEPP2 and DAZAP2.
Protein FAM214A, also known as protein family with sequence similarity 214, A (FAM214A) is a protein that, in humans, is encoded by the FAM214A gene. FAM214A is a gene with unknown function found at the q21.2-q21.3 locus on Chromosome 15 (human). The protein product of this gene has two conserved domains, one of unknown function (DUF4210) and another one called Chromosome_Seg. Although the function of the FAM214A protein is uncharacterized, both DUF4210 and Chromosome_Seg have been predicted to play a role in chromosome segregation during meiosis.
Transmembrane protein 8A is a protein that in humans is encoded by the TMEM8A gene (16p13.3.). Evolutionarily, TMEM8A orthologs are found in primates and mammals and in a few more distantly related species. TMEM8A contains five transmembrane domains and one EGF-like domain which are all highly conserved in the ortholog space. Although there is no confirmed function of TMEM8A, through analyzing expression and experimental data, it is predicted that TMEM8A is an adhesion protein that plays a role in keeping T-cells in their resting state.
Coiled-coil domain-containing protein 138, also known as CCDC138, is a human protein encoded by the CCDC138 gene. The exact function of CCDC138 is unknown.
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.
Family with sequence similarity 98, member A, or FAM98A, is a gene that in the human genome encodes the FAM98A protein. FAM98A has two paralogs in humans, FAM98B and FAM98C. All three are characterized by DUF2465, a conserved domain shown to bind to RNA. FAM98A is also characterized by a glycine-rich C-terminal domain. FAM98A also has homologs in vertebrates and invertebrates and has distant homologs in choanoflagellates and green algae.
EVI5L is a protein that in humans is encoded by the EVI5L gene. EVI5L is a member of the Ras superfamily of monomeric guanine nucleotide-binding (G) proteins, and functions as a GTPase-activating protein (GAP) with a broad specificity. Measurement of in vitro Rab-GAP activity has shown that EVI5L has significant Rab2A- and Rab10-GAP activity.
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.
Chromosome 21 Open Reading Frame 58 (C21orf58) is a protein that in humans is encoded by the C21orf58 gene.
Chromosome 9 open reading frame 43 is a protein that in humans is encoded by the C9orf43 gene. The gene is also known as MGC17358 and LOC257169. C9orf43 contains DUF 4647 and a polyglutamine repeat region although protein function is not well understood.
C2orf16 is a protein that in humans is encoded by the C2orf16 gene. Isoform 2 of this protein is 1,984 amino acids long. The gene contains 1 exon and is located at 2p23.3. Aliases for C2orf16 include Open Reading Frame 16 on Chromosome 2 and P-S-E-R-S-H-H-S Repeats Containing Sequence.
Small integral membrane protein 14, also known as SMIM14 or C4orf34, is a protein encoded on chromosome 4 of the human genome by the SMIM14 gene. SMIM14 has at least 298 orthologs mainly found in jawed vertebrates and no paralogs. SMIM14 is classified as a type I transmembrane protein. While this protein is not well understood by the scientific community, the transmembrane domain of SMIM14 may be involved in ER retention.
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
C14orf119 is a protein that in humans is encoded by the c14orf119 gene. The c14orf119 protein is predicted to be localized in the nucleus. Additionally, c14orf119 expression is decreased in individuals with systemic lupus erythematosus (SLE) when compared with healthy individual and is increased in individuals with various types of lymphomas when compared to healthy individuals.
Coiled-coil domain containing 121 (CCDC121) is a protein encoded by the CCDC121 gene in humans. CCDC121 is located on the minus strand of chromosome 2 and encodes three protein isoforms. All isoforms of CCDC121 contain a domain of unknown function referred to as DUF4515 or pfam14988.
Major facilitator superfamily domain containing 6 like (MFSD6L) is a protein encoded by the MFSD6L gene in humans. The MFSD6L protein is a transmembrane protein that is part of the major facilitator superfamily (MFS) that uses chemiosmotic gradients to facilitate the transport of small solutes across cell membranes.
Transmembrane protein 271, or TMEM271 is a protein in Homo sapiens encoded by the TMEM271 gene, located at 4p16.3 on the minus strand. The protein is located on the plasma membrane of cells and highly expressed in several regions of the brain.
Coiled-Coil Domain Containing 177 (CCDC177) is a protein, which in humans, is encoded by the gene CCDC177. It is composed of a coiled helical domain that spans half of the protein. CCDC177 deletions are associated with intellectual disability and congenital heart defects.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.