| IRGC | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | IRGC , CINEMA, IFGGE, IRGC1, Iigp5, R30953_1, immunity related GTPase cinema | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | MGI: 2685948 HomoloGene: 10486 GeneCards: IRGC | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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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. [5] [6] It is predicted to behave like other proteins in the p47-GTPase-like and IRG families. It is most expressed in the testis. [6] [7]
IRGC is located on chromosome 19 at position 19q13.31 and contains two exons. [5] [8] It is on the forward strand and is upstream of Phospholipase A2 Inhibitor and Ly6/PLAUR Domain-Containing Protein-Like (LOC105372412) and downstream of Nonsense Mediated mRNA Decay Factor (SMG9). [7]
There is one paralog for IRGC named IRGM. IRGM, or immunity related GTPase M, is associated with intracellular defense. [9] [10] Both are part of the p47-GTPase-like family and the P-loop NTPase domain superfamily. The paralog has 12% identity to IRGC.
IRGC was observed to be conserved in all vertebrates. The GTP/Magnesium and polypeptide binding regions and a transmembrane region are fairly conserved between species. [11]
IRGC is predicted to have evolved more rapidly than cytochrome c and β-hemoglobin when comparing the percent identity of the same species for each gene over 500 million years. It is likely that IRGC and IRGM diverged 350 to 375 million years ago.
There was one promoter region, GXP_311825, found for IRGC on chromosome 19. [12] It is 1521 base pairs long and starts at base pair 43714694. [12] It is conserved on all 7 orthologous sequences tested and has the most association with testis, at 8.090 tpm. [12] Of the six potential transcripts, GXT_26231691 had the most CAGE tags. [12] Testis was labeled on 839 of 873 CAGE tags. [12]
The most common transcript for IRGC is 1596 base pairs long and has the accession number NM_019612. [13] Other transcripts include isoform X1, XM_005259058, isoform X2, XM_011527118, and isoform X3, XM_006723283. [14] [15] [16]
Interferon-inducible GTPase 5 is 463 amino acids long, has a molecular weight of 50.3 kDa, and a predicted isoelectric point of 5.22. [17] It is unlikely to have a signal peptide. [18] [19] A transmembrane region is highly predicted between residues 364 and 384, with the first section of the sequence outside of the membrane and the second section within the membrane. [20] [21] [17] [18]
The secondary structure of the protein is expected to have more alpha helices than beta sheets, [22] [23] Close orthologs were observed to have highly similar secondary structures.
The tertiary structure can be predicted with related X-ray crystallography structures. There was one hit for the protein, ligp1 [ Mus musculus], which had an E-value of 2E-76 and an 34% identity over 82% of the protein sequence. [24]
The protein is expected to be GTP and magnesium binding as it contains several related binding sites. [6] It also has predicted homodimer interface regions for polypeptide binding between residues 153 and 163. [6] There are two likely phosphine interaction sites at Ser247 and Ser304. [6] Phosphorylation is expected to be common on serines and a few threonines throughout the sequence, though more are likely after residue 330. [25] A few glyosylation and glycation sites are predicted, though some of the predictions overlap with potential phosphorylation sites. [26] [27]
The protein may be non-cytoplasmic though further localization is unknown at this time. [18] [28]
Interferon-inducible GTPase 5 is most highly expressed in the testis. [6] The use of two antibodies (HPA046769 and HPA060064) demonstrated higher expression in elongated spermatids than round spermatids. [29] Leydig cells, spermatogonia, and preleptotene spermatocytes were reported to have low expression. [29] There was low to medium expression observed with both antibodies in the duodenum, small intestine, appendix, and kidney. [30] There may be some expression in myocytes and the thyroid, parathyroid, and adrenal glands. [30]
Expression has been observed to decrease under cancer conditions. [31] [32] There is unknown clinical association with transcript variations both in the 3' and 5' UTR and within the coding region. [33]
Receptor expression-enhancing protein 5 is a protein that in humans is encoded by the REEP5 gene. Receptor Expression Enhancing Protein is a protein encoded for in Humans by the REEP5 gene.
C8orf48 is a protein that in humans is encoded by the C8orf48 gene. C8orf48 is a nuclear protein specifically predicted to be located in the nuclear lamina. C8orf48 has been found to interact with proteins that are involved in the regulation of various cellular responses like gene expression, protein secretion, cell proliferation, and inflammatory responses. This protein has been linked to breast cancer and papillary thyroid carcinoma.
Ankyrin repeat domain-containing protein 24 is a protein in humans that is coded for by the ANKRD24 gene. The gene is also known as KIAA1981. The protein's function in humans is currently unknown. ANKRD24 is in the protein family that contains ankyrin-repeat domains.
PRR29 is a protein encoded by the PRR29 gene located in humans on chromosome 17 at 17q23.
Chromosome 16 open reading frame 46 is a protein of yet to be determined function in Homo sapiens. It is encoded by the C16orf46 gene with NCBI accession number of NM_001100873. It is a protein-coding gene with an overlapping locus.
TMEM44 is a protein that in humans is encoded by the TMEM44 gene. DKFZp686O18124 is a synonym of TMEM44.
Testis-expressed protein 9 is a protein that in humans is encoded the TEX9 gene. TEX9 that encodes a 391-long amino acid protein containing two coiled-coil regions. The gene is conserved in many species and encodes orthologous proteins in eukarya, archaea, and one species of bacteria. The function of TEX9 is not yet fully understood, but it is suggested to have ATP-binding capabilities.
Chromosome 4 open reading frame 51 (C4orf51) is a protein which in humans is encoded by the C4orf51 gene.
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.
Single-pass membrane and coiled-coil domain-containing protein 3 is a protein that is encoded in humans by the SMCO3 gene.
Proline-rich protein 16 (PRR16) is a protein coding gene in Homo sapiens. The protein is known by the alias Largen.
Uncharacterized protein C17orf78 is a protein encoded by the C17orf78 gene in humans. The name denotes the location of the parent gene, being at the 78th open reading frame, on the 17th human chromosome. The protein is highly expressed in the small intestine, especially the duodenum. The function of C17orf78 is not well defined.
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.
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.
TMEM275 is a protein that in humans is encoded by the TMEM275 gene. TMEM275 has two, highly-conserved, helical trans-membrane regions. It is predicted to reside within the plasma membrane or the endoplasmic reticulum's membrane.
C2orf72 is a gene in humans that encodes a protein currently named after its gene, C2orf72. It is also designated LOC257407 and can be found under GenBank accession code NM_001144994.2. The protein can be found under UniProt accession code A6NCS6.
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.
C4orf19 is a protein which in humans is encoded by the C4orf19 gene.
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.
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