REDIC1

REDIC1
Identifiers
AliasesREDIC1, HEL-206, HEL-S-94, chromosome 12 open reading frame 40, C12orf40, Regulator Of DNA Class I Crossover Intermediates 1
External IDsGeneCards: REDIC1
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

283461

n/a

Ensembl

ENSG00000180116

n/a

UniProt

Q86WS4

n/a

RefSeq (mRNA)

NM_001031748
NM_001319247

n/a

RefSeq (protein)

NP_001026918
NP_001306176

n/a

Location (UCSC)Chr 12: 39.63 – 39.91 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

Regulator of DNA class I crossover intermediates 1, is a protein which in humans is encoded by the gene REDIC1 (previously C12orf40).[3] It is involved in the process of recombination during meiosis.[4]

Gene

Evolution of the C12orf40 gene (and its more conserved sub-region of the first 4 exons) across several taxa. Information available from NCBI BLAST software.

Human gene

In humans, the gene for C12orf40 is located on chromosome 12. There are 13 exons in the canonical isoform that is transcribed into an mRNA of 2797 base pairs.[5] Three other isoforms have been isolated.[3]

Evolution

Homologs exist as distant as the green sea turtle and chickens at approximately 60% sequence identity, suggesting that the gene may have arisen in the amniotes after their divergence from other tetrapods;[6] the first 4 exons are conserved with 36% identity as distantly as sea anemones.

Protein

Properties

The human C12orf40 protein is 652 amino acids in length.[7] Its molecular weight is predicted to be 74.52 kDa,[8] and its isoelectric point 7.822.[9] Amino acids 229-652 contain a domain of unknown function (DUF4552) which is conserved in vertebrates.[7] C12orf40 is predicted to be a soluble protein with no transmembrane segments.[10] Its secondary and tertiary structures are not currently known.

Interactions

Experimental evidence shows that C12orf40 has a physical interaction with dynein light chain 2 (DYNLL2).[11] This protein is part of a complex that regulates the function of the motor protein dynein.

Expression

Within the cell, C12orf40 is predicted to be present in the nucleus based on signals within its sequence.[12] An analysis of normal human tissues shows that C12orf40 expression occurs primarily in the testis,[13] suggesting importance to the male reproductive system.

Clinical significance

The function of C12orf40 is not yet well understood. However, the three prime untranslated region (3' UTR) of C12orf40 is highly similar to the 3' UTR of the cystic fibrosis transmembrane conductance regulator (CFTR), which may mean that the two genes share certain expression patterns.[14] In the fibroblasts of hypertrophic scars, exposure to the immunosuppressant Tacrolimus causes C12orf40 up-regulation.[15] In pigs, a region homologous to human C12orf40 plays a role in arthrogryposis, a disease characterized by congenital fibrosis.[16] The common thread of these studies suggests that C12orf40 may have a connection to the formation of healthy connective tissue.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000180116 – Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ a b "REDIC1 regulator of DNA class I crossover intermediates 1". NCBI Gene. National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2026-08-02.
  4. ^ "Q86WS4 · RDIC1_HUMAN". uniprot. UniProt consortium. Retrieved 2026-08-02.
  5. ^ "Homo sapiens chromosome 12 open reading frame 40 (C12orf40), transcript variant 1, mRNA". NCBI Nucleotide. National Center for Biotechnology Information, U.S. National Library of Medicine. June 2022.
  6. ^ "C12orf40: HomoloGene:79699. Gene conserved in Amniota". National Center for Biotechnology Information, U.S. National Library of Medicine. Archived from the original on March 2, 2022.
  7. ^ a b "Uncharacterized protein C12orf40". NCBI Protein. National Center for Biotechnology Information, U.S. National Library of Medicine.
  8. ^ Stothard, P. Protein Molecular Weight
  9. ^ Toldo, L. EMBL WWW Gateway to Isoelectric Point Service
  10. ^ Hirokawa T, Boon-Chieng S, Mitaku S (1 May 1998). "SOSUI: classification and secondary structure prediction system for membrane proteins". Bioinformatics. 14 (4): 378–379. doi:10.1093/bioinformatics/14.4.378. PMID 9632836.
  11. ^ Rolland T, Taşan M, Charloteaux B, Pevzner SJ, Zhong Q, Sahni N, et al. (November 2014). "A proteome-scale map of the human interactome network". Cell. 159 (5): 1212–1226. doi:10.1016/j.cell.2014.10.050. PMC 4266588. PMID 25416956.
  12. ^ Nakai K. "PSORT II Prediction". Human Genome Center, Institute for Medical Science. Japan: University of Tokyo. Archived from the original on 2021-09-06. Retrieved 2015-04-28.
  13. ^ Edgar R, Domrachev M, Lash AE (January 2002). "Gene Expression Omnibus: NCBI gene expression and hybridization array data repository". Nucleic Acids Research. 30 (1): 207–210. doi:10.1093/nar/30.1.207. PMC 99122. PMID 11752295.
  14. ^ Spence J (July 2009). "Pathway prediction by bioinformatic analysis of the untranslated regions of the CFTR mRNA". Genomics. 94 (1): 39–47. doi:10.1016/j.ygeno.2009.03.002. PMID 19306924.
  15. ^ Wong VW, You F, Januszyk M, Kuang AA (September 2013). "Tacrolimus fails to regulate collagen expression in dermal fibroblasts". The Journal of Surgical Research. 184 (1): 678–690. doi:10.1016/j.jss.2013.04.006. PMID 23647800.
  16. ^ Haubitz M, Neuenschwander S, Vögeli P (December 2012). "Porcine arthrogryposis multiplex congenita (AMC): new diagnostic test and narrowed candidate region". Molecular and Cellular Probes. 26 (6): 248–252. doi:10.1016/j.mcp.2012.02.005. PMID 22405934.

Content Disclaimer

Informasi ini disarikan dari Wikipedia dan disajikan kembali untuk tujuan edukasi. Konten tersedia di bawah lisensi CC BY-SA 3.0. Kami tidak bertanggung jawab atas ketidakakuratan data yang bersumber dari kontribusi publik tersebut.

  1. The information displayed on this website is sourced in part or in whole from Wikipedia and has been adapted for the purpose of restating it. We strive to provide accurate and relevant information, however:
  2. There is no guarantee of absolute accuracy. Wikipedia is an open, collaborative project that can be edited by anyone, so information is subject to change.
  3. It is not intended to constitute professional advice. The content displayed is for informational and educational purposes only. For important decisions (e.g., medical, legal, or financial), please consult a professional.
  4. Content copyright. Wikipedia is licensed under the Creative Commons Attribution-ShareAlike License (CC BY-SA). This means that content may be reused with appropriate attribution and shared under a similar license.
  5. Responsible use. Any risk arising from the use of information from this website is entirely the responsibility of the user.