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ZNF816

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ZNF816
Identifiers
AliasesZNF816, ZNF816A, zinc finger protein 816
External IDsHomoloGene: 134445; GeneCards: ZNF816; OMA:ZNF816 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

125893

n/a

Ensembl

ENSG00000180257

n/a

UniProt

Q0VGE8

n/a

RefSeq (mRNA)

NM_001202457
NM_001031665
NM_001202456

n/a

RefSeq (protein)

NP_001026835
NP_001189385
NP_001189386

n/a

Location (UCSC)Chr 19: 52.95 – 52.96 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human


Zinc Finger Protein 816 (ZNF816) is a protein encoded by the ZNF816 gene, located on chromosome 19 in humans.

Gene

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The ZNF816 gene is located on the minus-strand of chromosome 19, cytogenetic band 19q13.41[3]. It spans 35,746 base pairs, from 52,927,135 to 52,962,881, containing 5 exons[3].

Ideogram of human chromosome 19[4]




Transcripts

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ZNF816 has three transcript variants, the longest is 2,711 base pairs, with 5 exons[5]. The other two have 4 exons, while all three isoforms encode 651 amino acids. The molecular weight and isoelectric point of is consistent across all three isoforms.

Isoform number AC# mRNA length (base pairs) Exons AC# Protein Length (Amino Acids)
1 NM_001031665 2711 5 NP_001026835 651
2 NM_001202456.3 2570 4 NP_001189385 651
3 NM_001202457.3 2560 4 NP_001189386.1 651

Proteins

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AlphaFold predicted secondary structure of ZNF816
iTasser predicted tertiary structure of ZNF816 with annotated KRAB domain, disordered regions, and C2H2 Zn fingers

The product protein of the ZNF816 gene is 651 amino acids in length, with a predicted molecular weight of 75.7 kDa and an isoelectric point of 9.44[6].

Domains

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ZNF816 has a Krüppel-associated box[7], which is characterized by a KRAB domain and an array of fifteen C2H2 Zinc fingers. This domain suppresses transcription by recruiting co-repressor proteins, which create heterochromatin, blocking RNA polymerase from accessing the gene. The amino acid sequence includes six disordered regions[8], and eight protein binding sites[8].

Structure

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The predicted secondary structure of ZNF816 from AlphaFold[9] consists of mainly alpha helices, from the C2H2 zinc finger motifs. The tertiary structure of ZNF816 was predicted by iTasser[10] and annotated (Icn3D[11]) according to the characteristics of other zinc finger proteins and prominent domains.

Gene Level Regulation

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ZNF816 shows a moderately variable expression pattern, with detectable levels in most tissues. While some tissues, like the adrenal gland, testes, thyroid, and salivary gland, exhibit relatively higher expression[12], ZNF816 is generally expressed across a wide range of tissues.

RNA-Seq Data

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RNA-seq data[13] confirm that ZNF816 is broadly expressed at varying levels across tissues. In normal tissues, it shows moderate to high mRNA levels, suggesting consistent transcriptional activity. Data from 20 human tissues further support the gene's widespread expression, with some variability in transcription levels.

In Situ Hybridization

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In situ hybridization results from the Allen Brain Atlas[14] confirm widespread expression across human brain regions, including the hippocampus, cortex, and cerebellum.

Protein Localization and Abundance

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Immunohistochemistry data show ZNF816 protein is localized in the nucleus (95.7%)[15] across various human tissues. It is seen to be expressed at high levels relative to other proteins[16].

Homology/Evolution

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Paralogs

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Phylogenetic tree of ZNF816 in humans and orthologs, identified by species name abbreviations[17].

ZNF816 has several paralogs within the zinc finger protein family. Its closest paralog is ZNF813, which shares 69.74% sequence identity. A more distant paralog is ZNF836, with 52.03% identity[18]. These paralogs likely maintain similar roles in transcriptional regulation, reflecting the conserved functions characteristic of zinc finger proteins.

Orthologs

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Orthologs of human ZNF816 are highly conserved in mammals, specifically primates. The closest ortholog is found in the Bonobo (Pan paniscus), with 88.8% identity[18], indicating strong conservation within the Hominidae family. The most divergent ortholog is found in the Olive Baboon (Papio anubis), with 78.2% identity[18], reflecting moderate divergence within primates. Orthologs are absent in non-mammalian species.

Species name Genus Common name Family Date of div. (MYA)[17] % Identity[18] % similarity[18] Protein length (Amino Acids) Accession Number
Homo sapiens Homo Human Hominidae 0 100.00% 100.00% 651 NP_001189386
Pan paniscus Pan Bonobo Hominidae 6.4 88.80% 90.00% 598 XP_024782426.3
Pan troglodytes Pan Common chimpanzee Hominidae 6.4 80.50% 81.30% 730 XP_054528711.1
Gorilla gorilla gorilla Gorilla Western lowland gorilla Hominidae 8.6 51.70% 52.60% 681 XP_030860498.2
Pongo pygmaeus Pongo Bornean orangutan Hominidae 15.2 86.60% 88.30% 642 XP_054321989.1
Pongo abelii Pongo Sumatran orangutan Hominidae 15.2 80.40% 81.80% 698 XP_024093826.3
Symphalangus syndactylus Symphalangus Siamang Hylobatidae 19.5 79.30% 81.8% 749 XP_063471613.1
Hylobates moloch Hylobates Silvery gibbon Hylobatidae 19.5 83.00% 85.90% 721 XP_058281887.1
Cercocebus atys Cercocebus Sooty mangabey Cercopithecidae 28.8 80.50% 85.10% 697 XP_011936585.1
Macaca fascicularis Macaca Long-tailed macaque (Crab-eating macaque) Cercopithecidae 28.8 80.80% 85.10% 697 XP_005590270.3
Rhinopithecus bieti Rhinopithecus Black snub-nosed monkey Cercopithecidae 28.8 82.00% 86.20% 694 XP_017714826.1
Colobus angolensis palliatus Colobus Angolan black-and-white colobus Cercopithecidae 28.8 82.10% 85.80% 641 XP_011801561.1
Papio anubis Papio Olive baboon Cercopithecidae 28.8 78.20% 83.00% 717 XP_009193448.2
Rhinopithecus roxellana Rhinopithecus Golden snub-nosed monkey Cercopithecidae 28.8 74.20% 77.70% 776 XP_010374801.2
Theropithecus gelada Theropithecus Gelada Cercopithecidae 28.8 77.60% 82.10% 695 XP_025222771.1
Macaca mulatta Macaca Rhesus macaque Cercopithecidae 28.8 80.80% 85.10% 697 XP_014980263.2
Chlorocebus sabaeus Chlorocebus Green monkey (Savanna monkey) Cercopithecidae 28.8 78.30% 83.30% 647 XP_037847362.1
Trachypithecus francoisi Trachypithecus François' langur Cercopithecidae 28.8 75.70% 80.20% 726 XP_033084859.1
Macaca nemestrina Macaca Southern pig-tailed macaque Cercopithecidae 28.8 65.90% 71.00% 721 XP_011766059.1
Mandrillus leucophaeus Mandrillus Drill Cercopithecidae 28.8 76.30% 81.10% 669 XP_011835608.1
Piliocolobus tephrosceles Piliocolobus Ugandan red colobus Cercopithecidae 28.8 70.20% 73.80% 812 XP_023051555.1

Evolutionary Rate

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ZNF816 Evolutionary History comparing median Date of Divergence from Homo sapiens (millions of years) and Corrected Sequence Divergence for ZNF816, Cytochrome C, and Fibrinogen Alpha.

ZNF816 is evolving relatively slowly, as its rate of divergence is not significantly higher than that of Cytochrome C, a highly conserved protein, and is notably slower than proteins like Fibrinogen Alpha, indicating its functional conservation across species.

Distant Homologs

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While ZNF816 is not present in non-mammalian species, distant homologs containing its zinc finger domains can be found in other vertebrates, including birds and fish[19].

Interacting Proteins

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ZNF816 interacts with several proteins involved in similar cellular processes. It binds with TRIM28, ZNF813, ZNF845, and ZNF468, all of which are linked to transcriptional regulation, indicating that ZNF816 likely plays a role in controlling gene expression. Additionally, CUL3, DCAF1, TRIM39, TRIM37, and RNF219 are involved in ubiquitination and protein degradation, suggesting that ZNF816 may help regulate protein turnover through the ubiquitin-proteasome pathway. TRIM28, TRIM39, and VPRBP are also associated with DNA repair, further supporting the idea that ZNF816 contributes to maintaining genomic stability. These interactions emphasize ZNF816's involvement in transcriptional regulation, protein degradation, and DNA repair.

Clinical Significance

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Disease Association

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Although direct disease associations are still being explored, ZNF816 is considered a potential candidate for diseases such as emphysema[20], MRKH syndrome[21], and early-onset psoriasis[22] due to the relationship of the diseases to variants in the gene.

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000180257 – Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ a b "ZNF816 zinc finger protein 816 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2024-12-13.
  4. ^ Database, GeneCards Human Gene. "GeneCards - Human Genes | Gene Database | Gene Search". www.genecards.org. Archived from the original on 2024-05-14. Retrieved 2024-12-14.
  5. ^ "ZNF816 zinc finger protein 816 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2024-12-14.
  6. ^ www.ebi.ac.uk https://www.ebi.ac.uk/jdispatcher/seqstats. Retrieved 2024-12-14. {{cite web}}: Missing or empty |title= (help)
  7. ^ Yang, Peng; Wang, Yixuan; Macfarlan, Todd S. (2017-11-01). "The Role of KRAB-ZFPs in Transposable Element Repression and Mammalian Evolution". Trends in Genetics. Transposable Elements. 33 (11): 871–881. doi:10.1016/j.tig.2017.08.006. ISSN 0168-9525. PMC 5659910. PMID 28935117.
  8. ^ a b "PredictProtein - Protein Sequence Analysis, Prediction of Structural and Functional Features". predictprotein.org. Retrieved 2024-12-14.
  9. ^ "AlphaFold Protein Structure Database". alphafold.ebi.ac.uk. Retrieved 2024-12-13.
  10. ^ "I-TASSER server for protein structure and function prediction". zhanggroup.org. Retrieved 2024-12-13.
  11. ^ "iCn3D: Web-based 3D Structure Viewer". www.ncbi.nlm.nih.gov. Retrieved 2024-12-13.
  12. ^ "National Center for Biotechnology Information". www.ncbi.nlm.nih.gov. Retrieved 2024-12-14.
  13. ^ "ZNF816 zinc finger protein 816 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2024-12-13.
  14. ^ "Microarray Data :: Allen Brain Atlas: Human Brain". human.brain-map.org. Retrieved 2024-12-13.
  15. ^ "PSORT WWW Server". psort.hgc.jp. Retrieved 2024-12-13.
  16. ^ "PaxDb: Protein Abundance Database". pax-db.org. Retrieved 2024-12-13.
  17. ^ a b "TimeTree :: The Timescale of Life". timetree.org. Retrieved 2024-12-13.
  18. ^ a b c d e www.ebi.ac.uk https://www.ebi.ac.uk/jdispatcher/psa. Retrieved 2024-12-13. {{cite web}}: Missing or empty |title= (help)
  19. ^ "Motif Scan". myhits.sib.swiss. Retrieved 2024-12-13.
  20. ^ Radder, Josiah E.; Zhang, Yingze; Gregory, Alyssa D.; Yu, Shibing; Kelly, Neil J.; Leader, Joseph K.; Kaminski, Naftali; Sciurba, Frank C.; Shapiro, Steven D. (2017-07-15). "Extreme Trait Whole-Genome Sequencing Identifies PTPRO as a Novel Candidate Gene in Emphysema with Severe Airflow Obstruction". American Journal of Respiratory and Critical Care Medicine. 196 (2): 159–171. doi:10.1164/rccm.201606-1147oc. ISSN 1073-449X. PMC 5519967. PMID 28199135.
  21. ^ Chen, M.-J.; Wei, S.-Y.; Yang, W.-S.; Wu, T.-T.; Li, H.-Y.; Ho, H.-N.; Yang, Y.-S.; Chen, P.-L. (2015-04-29). "Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Kuster-Hauser syndrome". Human Reproduction. 30 (7): 1732–1742. doi:10.1093/humrep/dev095. ISSN 0268-1161. PMID 25924657.
  22. ^ Sun, Liang-Dan; Cheng, Hui; Wang, Zai-Xing; Zhang, An-Ping; Wang, Pei-Guang; Xu, Jin-Hua; Zhu, Qi-Xing; Zhou, Hai-Sheng; Ellinghaus, Eva; Zhang, Fu-Ren; Pu, Xiong-Ming; Yang, Xue-Qin; Zhang, Jian-Zhong; Xu, Ai-E; Wu, Ri-Na (2010-10-17). "Association analyses identify six new psoriasis susceptibility loci in the Chinese population". Nature Genetics. 42 (11): 1005–1009. doi:10.1038/ng.690. ISSN 1061-4036. PMC 3140436. PMID 20953187.
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