ZC3H11B

Last updated
ZC3H11B
Identifiers
Aliases ZC3H11B , ZC3HDC11B, zinc finger CCCH-type containing 11B pseudogene, zinc finger CCCH-type containing 11B
External IDs GeneCards: ZC3H11B
Orthologs
SpeciesHumanMouse
Entrez

643136

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Ensembl

ENSG00000215817

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UniProt

n
a

n/a

RefSeq (mRNA)

NM_001085394
NM_001355457

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RefSeq (protein)

n/a

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Location (UCSC) Chr 1: 219.61 – 219.61 Mb n/a
PubMed search [2] n/a
Wikidata
View/Edit Human

ZC3H11B also known as zinc finger CCCH-type containing protein 11B is a protein in humans that is encoded by the ZC3H11B gene. [3] The zc3h11b gene is located on chromosome 1, on the long arm, in band 4 section 1. This protein is also known as ZC3HDC11B. The zc3h11b gene is a total of 5,134 base pairs long, and the protein is 805 amino acids in length. The zc3h11b gene has 2 exons in total.

Contents

Function

The ZC3H11B protein is expressed in various tissues including those of the testis, heart, leg, and adrenal. [4] ZC3H11B is predicted to be involved in metal ion binding, a mechanism that involves combination of a metal ion or chelation, as inferred from Electronic Association. [3]

Structure

Domains

The ZC3H11B protein has three conserved domains. These include zinc finger domains, which are one of the most common or abundant protein groups often involved in regulation of cellular processes, [5] and coiled coil domains, which are a structurally conserved protein group present in all domains of life often involved in molecular spacing, vesicle tethering, and DNA recognition and cleavage. [6] Both the zinc finger and coiled coil domains are conserved in eukaryotes.

Zinc finger C3H1-type 1 is located from amino acids 2-29, and zinc finger C3H1-type 2 is located from amino acids 31–57. [7] Zinc finger C3H1-type proteins have been identified to interact with 3' region of untranslated mRNAs. [8] Coiled coil is located from positions 403-423 amino acids of the protein. [7]

Secondary

Currently the secondary structure of ZC3H11B is unknown.

The predicted secondary structure of ZC3H11B is a loop secondary structure composition, [9] which are irregular secondary structures that connect two secondary structural elements and are able to change the direction of polypeptide chain propagation. [10] The loop is predicted to be exposed for binding. [9]

Post-translational modifications

ZC3H11B is likely found in the nucleus. [11] ZC3H11B is predicted to undergo various phosphorylations, O-GlcNAcylations, glycations, and O-glycosylations. [12]

Example of sites predicted for phosphorylation, a mechanism in which a phosphoryl group is added and important in biological regulation and other cellular processes, [13] occur on 108, 149, 196,229, 290, and 330. [12] Example of sites predicted for O-GlcNAcylations, a mechanism in which an O-linked N-acetylglucosamine (O-GlcNAc) is added and important for regulation of cellular processes, [14] are 488, 744, and 732. [12] Examples of sites predicted for glycations, a mechanism in which glucose binds with proteins and lipids, are 140, 359, 669, and 776. [12] Example of sites predicted for O-glycosylation, a mechanism in which sugars or monosaccharides add to hydroxyl groups of proteins, occur on 179 and 386. [12]

Homology

There are several identified homologs of the zc3h11b protein in a variety of species including various mammals, insects, and amphibians.

Paralogs

Currently, there is one paralog of ZC3H11B in the same CCCH-type zinc finger family based on BLAST analysis (NCBI).

NameSpeciesNCBI accession numberLength (AA)Protein identity
ZC3H11A H. sapiens NP_001306167.1 81093.29%

C12orf50 (H. sapiens) has also been predicted as a paralog of ZC3H11B. [7] [4]

Orthologs

There are several species that have been found as having orthologs to the zc3h11b protein in their genome based on BLAST analysis (NCBI).

NameSpeciesNCBI accession numberLength (AA)Protein identity
ZC3H11A P. troglodytes XP_016791924.1 81093.29%
ZC3H11A M. mulatta NP_001247891.1 81092.67%
ZC3H11A C. lupus XP_022271137.1 81584.34%
ZC3H11A F. catus XP_006942949.1 81683.60%
ZC3H11A E. caballus NP_001295209.1 81583.70%

ZC3H11A ( B. Taurus ), Zc3h11a ( M. musculus ), Zc3h11a ( R. norvegicus ), ZC3H11A ( G. gallus ), zc3h11a, ( X. tropicalis ), zc3h11a ( D. rerio ), AT2G02160 ( A. thaliana ), ZC3H11A ( M. domesticia ), zc3h11a ( A. carolinensis ), and ZC3H11A ( S. scrofa ) have also been predicted as orthologs of ZC3H11B. [7] [4]

Clinical significance

Current research has identified ZC3H11B as single-nucleotide polymorphisms (SNPs) that are the most common genetic variation among groups with high myopia and corneal astigmatism. [15] [16] As of April 2020, there have been no other published association studies linking ZC3H11B with other conditions.

Myopia

Myopia, also known as shortsightedness or nearsightedness, is a condition caused by a refractive error in which the shape of the eye is either elongated or the cornea is too curved. [17] In developed countries, this condition occurs in over 50% of the population with a high rate of occurrence among adults (80-90%) in East Asia and occurs approximately in 30% of the population in the United States. [17] [18]

Myopia is categorized in two groups. The first of which comprises people with low to medium amount of myopia, or simple myopia, and is diagnosed at 0 to -6 diopters and is treated with corrective lenses. The second is classified as high myopia and is diagnosed at greater than -6 diopters and typically are found in cases of retinal detachment, macular degeneration, and glaucoma. [19] Myopia is considered as one of the leading causes of blindness and visual impairment in the world by the World Health Organization. [20]

An elongated ocular axial length (AL), or distance from the anterior corneal surface to the retinal pigment epithelium, [21] is a determinant of the development of myopia. A genome-wide association study conducted in a population of Chinese adults and children as well as Malay adults identified that ZC3H11B is associated with AL and high myopia. [15] There were ZC3H11B mRNA expression levels in the brain, placenta, neural retina, retina pigment epithelium, and sclera with a greater decrease in quantity or down-regulated expression levels in myopic eyes than non-myopic eyes. This identification was confirmed in another genome-wide association study along with the identification of additional significant loci for AL of RSPO1 (involved in Wnt signaling or regulation of eyeball size), C3orf26, ZNRF3 (involved in Wnt signaling), and ALPPL2. [22] Thus, this identification of shared association AL genes indicates that AL and refraction may be caused by different optic pathways. Additionally, a genome-wide association study in Chinese populations confirmed that ZC3H11B is a susceptibility gene for the development of high and extreme myopia. [23]

Astigmatism

An astigmatism is a condition in which the curvature of the cornea or lens is abnormal. [24] Astigmatisms can be classified as corneal astigmatism in which the corneal shape is irregular, lenticular astigmatism in which the lens shape is irregular, or refractive astigmatism. Astigmatism is typically treated with corrective lenses or surgery (such as LASIK). [25]

Refractive and corneal astigmatism may lead to the development of amblyopia, or lazy eye, if left untreated. A genome-wide association study of individuals of European ancestry identified the ZC3H11B gene as significant for corneal astigmatism. [16] Additionally, there were two other loci were identified to demonstrate genome-wide significant association for corneal astigmatism, HERC2 and TSPAN10/NPLOC4.

Related Research Articles

<span class="mw-page-title-main">Near-sightedness</span> Problem with distance vision

Near-sightedness, also known as myopia and short-sightedness, is an eye disease where light focuses in front of, instead of on, the retina. As a result, distant objects appear blurry while close objects appear normal. Other symptoms may include headaches and eye strain. Severe near-sightedness is associated with an increased risk of retinal detachment, cataracts, and glaucoma.

<span class="mw-page-title-main">Zinc finger</span> Small structural protein motif found mostly in transcriptional proteins

A zinc finger is a small protein structural motif that is characterized by the coordination of one or more zinc ions (Zn2+) which stabilizes the fold. It was originally coined to describe the finger-like appearance of a hypothesized structure from the African clawed frog (Xenopus laevis) transcription factor IIIA. However, it has been found to encompass a wide variety of differing protein structures in eukaryotic cells. Xenopus laevis TFIIIA was originally demonstrated to contain zinc and require the metal for function in 1983, the first such reported zinc requirement for a gene regulatory protein followed soon thereafter by the Krüppel factor in Drosophila. It often appears as a metal-binding domain in multi-domain proteins.

<span class="mw-page-title-main">Far-sightedness</span> Eye condition in which light is focused behind instead of on the retina

Far-sightedness, also known as long-sightedness, hypermetropia, and hyperopia, is a condition of the eye where distant objects are seen clearly but near objects appear blurred. This blur is due to incoming light being focused behind, instead of on, the retina due to insufficient accommodation by the lens. Minor hypermetropia in young patients is usually corrected by their accommodation, without any defects in vision. But, due to this accommodative effort for distant vision, people may complain of eye strain during prolonged reading. If the hypermetropia is high, there will be defective vision for both distance and near. People may also experience accommodative dysfunction, binocular dysfunction, amblyopia, and strabismus. Newborns are almost invariably hypermetropic, but it gradually decreases as the newborn gets older.

<span class="mw-page-title-main">LASIK</span> Corrective ophthalmological surgery

LASIK or Lasik, commonly referred to as laser eye surgery or laser vision correction, is a type of refractive surgery for the correction of myopia, hyperopia, and an actual cure for astigmatism, since it is in the cornea. LASIK surgery is performed by an ophthalmologist who uses a laser or microkeratome to reshape the eye's cornea in order to improve visual acuity.

<span class="mw-page-title-main">Refractive surgery</span> Surgery to treat common vision disorders

Refractive surgery is optional eye surgery used to improve the refractive state of the eye and decrease or eliminate dependency on glasses or contact lenses. This can include various methods of surgical remodeling of the cornea (keratomileusis), lens implantation or lens replacement. The most common methods today use excimer lasers to reshape the curvature of the cornea. Refractive eye surgeries are used to treat common vision disorders such as myopia, hyperopia, presbyopia and astigmatism.

<span class="mw-page-title-main">Refractive error</span> Problem with focusing light accurately on the retina due to the shape of the eye

Refractive error, also known as refraction error, is a problem with focusing light accurately on the retina due to the shape of the eye and or cornea. The most common types of refractive error are near-sightedness, far-sightedness, astigmatism, and presbyopia. Near-sightedness results in far away objects being blurry, far-sightedness and presbyopia result in close objects being blurry, and astigmatism causes objects to appear stretched out or blurry. Other symptoms may include double vision, headaches, and eye strain.

<span class="mw-page-title-main">Krüppel associated box</span> Protein domain

The Krüppel associated box (KRAB) domain is a category of transcriptional repression domains present in approximately 400 human zinc finger protein-based transcription factors. The KRAB domain typically consists of about 75 amino acid residues, while the minimal repression module is approximately 45 amino acid residues. It is predicted to function through protein-protein interactions via two amphipathic helices. The most prominent interacting protein is called TRIM28 initially visualized as SMP1, cloned as KAP1 and TIF1-beta. Substitutions for the conserved residues abolish repression.

<span class="mw-page-title-main">Astigmatism</span> Type of eye defect

Astigmatism is a type of refractive error due to rotational asymmetry in the eye's refractive power. This results in distorted or blurred vision at any distance. Other symptoms can include eyestrain, headaches, and trouble driving at night. Astigmatism often occurs at birth and can change or develop later in life. If it occurs in early life and is left untreated, it may result in amblyopia.

<span class="mw-page-title-main">Roxan (protein)</span> Protein-coding gene in the species Homo sapiens

RoXaN also known as ZC3H7B, is a protein that in humans is encoded by the ZC3H7B gene. RoXaN is a protein that contains tetratricopeptide repeat and leucine-aspartate repeat as well as zinc finger domains. This protein also interacts with the rotavirus non-structural protein NSP3.

<span class="mw-page-title-main">TRIM28</span> Protein-coding gene in the species Homo sapiens

Tripartite motif-containing 28 (TRIM28), also known as transcriptional intermediary factor 1β (TIF1β) and KAP1, is a protein that in humans is encoded by the TRIM28 gene.

<span class="mw-page-title-main">ZC3HAV1</span> Protein-coding gene in the species Homo sapiens

Zinc finger CCCH-type antiviral protein 1 is a protein that in humans is encoded by the ZC3HAV1 gene.

<span class="mw-page-title-main">ZC3H11A</span> Protein-coding gene in the species Homo sapiens

Zinc finger CCCH domain-containing protein 11A is a protein that in humans is encoded by the ZC3H11A gene. ZC3H11A is a part of the transcription export (TREX) complex and plays a role in exporting of mRNAs from nucleus to cytoplasm. It is considered as stress-induced nuclear protein and maintains mRNAs exporting when the cells are under stress. Loss of functioning of ZC3H11A gene in HeLa cells results in abortion of the replication of nuclear replicating viruses but not cytoplasmic replicating viruses. It is discovered that ZC3H11A is significant for viability and metabolic regulation of mouse embryo

<span class="mw-page-title-main">MORC3</span> Protein-coding gene in the species Homo sapiens

MORC family CW-type zinc finger protein 3 is a protein that in humans is encoded by the MORC3 gene.

MAP11 is a protein that in human is encoded by the gene MAP11. It was previously referred to by the generic name C7orf43. C7orf43 has no other human alias, but in mice can be found as BC037034.

<span class="mw-page-title-main">ZGPAT</span> Protein-coding gene in the species Homo sapiens

Zinc finger CCCH-type with G patch domain-containing protein is a protein that in humans is encoded by the ZGPAT gene.

<span class="mw-page-title-main">Zinc finger protein 804A</span> Protein found in humans

Zinc finger protein 804A is a protein that in humans is encoded by the ZNF804A gene. The human gene maps to chromosome 2 q32.1 and consists of 4 exons that code for a protein of 1210 amino acids.

<span class="mw-page-title-main">ZNF644</span> Protein-coding gene in the species Homo sapiens

Zing finger protein 644 (ZNF644) also known as zinc finger motif enhancer-binding protein 2 (Zep-2) is a protein that in humans is encoded by the ZNF644 gene.

Protein <i>O</i>-GlcNAc transferase Protein-coding gene in the species Homo sapiens

Protein O-GlcNAc transferase also known as OGT or O-linked N-acetylglucosaminyltransferase is an enzyme that in humans is encoded by the OGT gene. OGT catalyzes the addition of the O-GlcNAc post-translational modification to proteins.

<span class="mw-page-title-main">ZC3H12B</span> Protein-coding gene in the species Homo sapiens

ZC3H12B, also known as CXorf32 or MCPIP2, is a protein encoded by gene ZC3H12B located on chromosome Xq12 in humans.

<span class="mw-page-title-main">C12orf60</span> Protein-coding gene in humans

Uncharacterized protein C12orf60 is a protein that in humans is encoded by the C12orf60 gene. The gene is also known as LOC144608 or MGC47869. The protein lacks transmembrane domains and helices, but it is rich in alpha-helices. It is predicted to localize in the nucleus.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000215817 - Ensembl, May 2017
  2. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. 1 2 "National Center for Biotechnology Information, U.S. National Library of Medicine zinc finger CCCH-type containing 11B [ Homo sapiens (human) ]". www.ncbi.nlm.nih.gov. Retrieved 2020-04-15.
  4. 1 2 3 "Monarch Initiative Explorer". monarchinitiative.org. Retrieved 2020-04-15.
  5. ↑ Cassandri M, Smirnov A, Novelli F, Pitolli C, Agostini M, Malewicz M, et al. (2017-11-13). "Zinc-finger proteins in health and disease". Cell Death Discovery. 3 (1): 17071. doi:10.1038/cddiscovery.2017.71. PMC   5683310 . PMID   29152378.
  6. ↑ Truebestein L, Leonard TA (September 2016). "Coiled-coils: The long and short of it". BioEssays. 38 (9): 903–16. doi:10.1002/bies.201600062. PMC   5082667 . PMID   27492088.
  7. 1 2 3 4 "UniProtKB - A0A1B0GTU1 (ZC11B_HUMAN) =". UniProt.
  8. ↑ Hall TM (June 2005). "Multiple modes of RNA recognition by zinc finger proteins". Current Opinion in Structural Biology. Sequences and topology/Nucleic acids. 15 (3): 367–73. doi:10.1016/j.sbi.2005.04.004. PMID   15963892.
  9. 1 2 "PredictProtein". PredictProtein.
  10. ↑ Dhar J, Chakrabarti P (June 2015). "Defining the loop structures in proteins based on composite β-turn mimics". Protein Engineering, Design & Selection. 28 (6): 153–61. doi: 10.1093/protein/gzv017 . PMID   25870305.
  11. ↑ "PSORT II Prediction". psort.hgc.jp. Retrieved 2020-04-15.
  12. 1 2 3 4 5 "CBS Prediction Servers". www.cbs.dtu.dk. Retrieved 2020-04-15.
  13. ↑ Nestler EJ, Greengard P (1999). "Protein Phosphorylation is of Fundamental Importance in Biological Regulation". Basic Neurochemistry: Molecular, Cellular and Medical Aspects. (6th ed.).
  14. ↑ Yang X, Qian K (July 2017). "Protein O-GlcNAcylation: emerging mechanisms and functions". Nature Reviews. Molecular Cell Biology. 18 (7): 452–465. doi:10.1038/nrm.2017.22. PMC   5667541 . PMID   28488703.
  15. 1 2 Fan Q, Barathi VA, Cheng CY, Zhou X, Meguro A, Nakata I, et al. (2012). "Genetic variants on chromosome 1q41 influence ocular axial length and high myopia". PLOS Genetics. 8 (6): e1002753. doi: 10.1371/journal.pgen.1002753 . PMC   3369958 . PMID   22685421.
  16. 1 2 Shah RL, Guggenheim JA (December 2018). "Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci". Human Genetics. 137 (11–12): 881–896. doi:10.1007/s00439-018-1942-8. PMC   6267700 . PMID   30306274.
  17. 1 2 "Myopia (Nearsightedness)". www.aoa.org. Retrieved 2020-04-15.
  18. ↑ Wu PC, Huang HM, Yu HJ, Fang PC, Chen CT (2016). "Epidemiology of Myopia". Asia-Pacific Journal of Ophthalmology. 5 (6): 386–393. doi:10.1097/APO.0000000000000236. PMID   27898441. S2CID   25797163.
  19. ↑ Fredrick DR (May 2002). "Myopia". BMJ. 324 (7347): 1195–9. doi:10.1136/bmj.324.7347.1195. PMC   1123161 . PMID   12016188.
  20. ↑ Pararajasegaram R (September 1999). "VISION 2020-the right to sight: from strategies to action". American Journal of Ophthalmology. 128 (3): 359–60. doi:10.1016/s0002-9394(99)00251-2. PMID   10511033.
  21. ↑ Bhardwaj V, Rajeshbhai GP (October 2013). "Axial length, anterior chamber depth-a study in different age groups and refractive errors". Journal of Clinical and Diagnostic Research. 7 (10): 2211–2. doi:10.7860/JCDR/2013/7015.3473. PMC   3843406 . PMID   24298478.
  22. ↑ Cheng CY, Schache M, Ikram MK, Young TL, Guggenheim JA, Vitart V, et al. (August 2013). "Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error". American Journal of Human Genetics. 93 (2): 264–77. doi:10.1016/j.ajhg.2013.06.016. PMC   3772747 . PMID   24144296.
  23. ↑ Tang SM, Li FF, Lu SY, Kam KW, Tam PO, Tham CC, et al. (July 2019). "SNTB1 genes with myopia of different severities". The British Journal of Ophthalmology. 104 (10): 1472–1476. doi:10.1136/bjophthalmol-2019-314203. PMID   31300455. S2CID   196351262.
  24. ↑ "What Is Astigmatism?". American Academy of Ophthalmology. 2018-08-31. Retrieved 2020-04-15.
  25. ↑ Publishing, Harvard Health (30 March 2019). "Astigmatism". Harvard Health. Retrieved 2020-04-15.
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