| MALSU1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | MALSU1 , C7orf30, mtRsfA, mitochondrial assembly of ribosomal large subunit 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 614624 MGI: 1922843 HomoloGene: 16317 GeneCards: MALSU1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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MALSU1 is a gene on chromosome 7 in humans that encodes the protein MALSU1. [5] This protein localizes to mitochondria and is probably involved in mitochondrial translation or the biogenesis of the large subunit of the mitochondrial ribosome.
MALSU1 is a member of the DUF143 [6] family (= domain of unknown function 143, Pfam PF02410) which is highly conserved in both prokaryotes and eukaryotes but not archaea. [7] Examples of mammalian conservation are given below using the ALIGN tool from the San Diego Supercomputer Center Biology Workbench. [8] Percentages indicate the identity shared by the human protein and the respective mammalian protein. Accession numbers are from the NCBI database.
| Species | Accession # | Identity |
|---|---|---|
| Macaca mulatta | XP_001098609 | 93.20% |
| Sus scrofa | NP_001092054 | 85.50% |
| Bos taurus | NP_001068866 | 88.50% |
| Canis familiaris | XP_853850 | 77.30% |
| Rattus norvegicus | NP_001100063 | 81.60% |
| Equus caballus | XP_001497879 | 90.70% |
There are no known or predicted paralogs in Homo sapiens . That is, MALSU1 is a single-copy gene.
The domain is from position 93 to 194 on the human protein and comprises 43.2% of the sequence. This conserved domain is also present in the plant gene iojap , a pattern-striping gene in maize. [9] [10] However, since its function has been solved at least in bacteria, it is no longer a "domain of unknown function".
While the function of the protein in mitochondria is not conclusive [11] [12] its bacterial homolog has been shown to silence bacterial translation by blocking the two ribosomal subunits from joining, hence it was called RsfS (= ribosomal silencing factor in starvation or stationary phase, a synonym of RsfA [13] ).
Protein-protein interactions. RsfS has been shown via a yeast two-hybrid screen to interact with ribosomal protein L14 in four bacterial species as well as in mitochondria. [13] MALSU1 was shown to interact with CHMP protein [14] which is part of the ESCRT-III complex (Endosomal Sorting Complex Required for Transport). DUF143 has also been shown to interact with UFD1, tRNA synthetases class II, and Cytidylyltransferase in various architectures. [15]
Bioinformatics predicted the following properties for LOC_115416:
C7ORF30 is located on chromosome 7 in humans and runs from 23,305,465 to 23,315,705. [16] There are four predicted exons in the human gene with conservation occurring across most mammalian species. There is no conclusive data regarding whether the gene is ubiquitously expressed in human tissues, but expressed sequence tag databases show that it is expressed in many tissues. [17]
MALSU1 is neighbored by GPNMB upstream and IGF2BP3 downstream, however the latter gene is transcribed on the opposite strand running from the 3' to the 5' end. There is some slight overlap of the untranslated regions of C7ORF30 and IGF2BP3 whereas the distance between C7ORF30 and GPNMB is 24,211 base pairs.
Charged multivesicular body protein 5 is a protein that in humans is encoded by the CHMP5 gene.
Charged multivesicular body protein 1b is a protein that in humans is encoded by the CHMP1B gene.
39S ribosomal protein L12, mitochondrial is a protein that in humans is encoded by the MRPL12 gene.
39S ribosomal protein L11, mitochondrial is a protein that in humans is encoded by the MRPL11 gene.
39S ribosomal protein L19, mitochondrial is a protein that in humans is encoded by the MRPL19 gene.
39S ribosomal protein L20, mitochondrial is a protein that in humans is encoded by the MRPL20 gene.
60S ribosomal protein L38 is a protein that in humans is encoded by the RPL38 gene.
39S ribosomal protein L1, mitochondrial is a protein that in humans is encoded by the MRPL1 gene.
28S ribosomal protein S16, mitochondrial is a protein that in humans is encoded by the MRPS16 gene.
39S ribosomal protein L4, mitochondrial is a protein that in humans is encoded by the MRPL4 gene.
39S ribosomal protein L32, mitochondrial is a protein that in humans is encoded by the MRPL32 gene.
Transmembrane protein 98 is a single-pass membrane protein that in humans is encoded by the TMEM98 gene. The function of this protein is currently unknown. TMEM98 is also known as UNQ536/PRO1079.
28S ribosomal protein S33, mitochondrial is a protein that in humans is encoded by the MRPS33 gene.
39S ribosomal protein L23, mitochondrial is a protein that in humans is encoded by the MRPL23 gene.
39S ribosomal protein L33, mitochondrial is a protein that in humans is encoded by the MRPL33 gene.
FAM107B is a gene found in humans. It is located on the minus strand of chromosome 10, p13, which is on the short arm of the chromosome. It has other alias names, such as C10orf45, FLJ45505, MGC11034 and MGC90261. The gene contains a conserved domain, DUF1151, which is a family that consists of several eukaryotic proteins of unknown function. FAM107B is expressed in most tissues in the human body without there being a high frequency in any one tissue. It is found in all stages of human development.
QRICH1, also known as Glutamine-rich protein 1, is a protein that in humans is encoded by the QRICH1 gene. One notable feature of this protein is that it contains a Caspase Activation Recruitment Domain, also known as a CARD domain. As a result of having this domain, QRICH1 is believed to be involved in apoptotic, inflammatory, and host-immune response pathways.
Tetratricopeptide repeat 39A is a human protein encoded by the TTC39A gene. TTC39A is also known as DEME-6, KIAA0452, and c1orf34. The function of TTC39A is currently not well understood. The main feature within tetratricopeptide repeat 39A is the domain of unknown function 3808 (DUF3808), spanning almost the entire protein. KIAA0452 can also be seen as an isoform of TTC39A because of differences in genome sequence, but overlap in DUF domain.
Cilia And Flagella Associated Protein 206 (CFAP206) is a gene that in humans encodes a protein “DUF3508”. This protein has a function that is not currently very well understood. Other known aliases are “dJ382I10.1, UPF0704 Protein C6orf165.” In humans, the gene coding sequence is 56,501 base pairs long, with an mRNA of 2,215 base pairs, and a protein sequence of 622 amino acids. The C6orf165 gene is conserved in chimpanzee, rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, mosquito, frog, and more C6orf165 is rarely expressed in humans, with relatively high expression in brain, lungs (trachea) and testis. The molecular weight of UPF0704 is 71,193 Da and the PI is 6.38
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.
