CCDC120
Identifiers
AliasesCCDC120, JM11, Coiled-coil domain containing protein 120, coiled-coil domain containing 120
External IDsOMIM: 300947 MGI: 1859619 HomoloGene: 14146 GeneCards: CCDC120
Orthologs
SpeciesHumanMouse
Entrez

90060

54648

Ensembl

ENSG00000147144

ENSMUSG00000031150

UniProt

Q96HB5

A2AEV7

RefSeq (mRNA)

NM_207202

RefSeq (protein)

NP_997085

Location (UCSC)Chr X: 49.05 – 49.07 MbChr X: 7.6 – 7.62 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Coiled coil domain containing protein 120 (CCDC120), also known as JM11 protein, is a protein that, in humans, is encoded by the CCDC120 gene.[5] The function of CCDC120 has not been formally identified but structural components, conservation, and interactions can be identified computationally.

Gene

The CCDC120 gene is located on human chromosome X, at Xp11.23.[6] There are six different transcript variants of CCDC120 produced by alternative splicing.[7]

Patterns

The mRNA transcript of CCDC120 contains a 120bp repeat near the 3' end.[8]

120bp repeat is visible on the graph.

Homology

Paralogs

CCDC120 has 3 identifiable paralogs in humans, FERM Domain Containing 4A, FERM domain Containing 4B, and C1orf106.[9]

Orthologs

The orthologous space of CCDC120 can be traced back as far as fish such as Danio rerio, Oryzias latipes, and Dicentrarchus labrax.[9]

Protein

The CCDC120 protein has four different isoforms, ranging from 618 to 696 amino acids in length.[10] Isoform 1 is the longest isoform and is encoded by transcript 1 of the CCDC120 gene.[11]

Interactions

Usher Syndrome 1C Binding Protein 1, CYTH2, MDFI, Centrosomal Protein 170kDa Pseudogene 1, and Keratin 15 have all been shown experimentally to interact with CCDC120 [12] Other interactions have been identified by coexpression and datamining and can be seen in the figure.

Shows the protein interactions for CCDC120 with experimental evidence indicated by a pink line, coexpression by dark green lines, and textmining by light green lines. This image was generated using the STRING 9.05 application. (http://string-db.org/)

Post-translational modification

Algorithms suggest a number of sites of Serine phosphorylation as well as a few sites of Threonine and Tyrosine phosphorylation. Many of these sites are conserved in Gorilla gorilla gorilla, Mus musculus, and Danio rerio. There is one potential N-Glycosylation site identified.[13]

Structure

The protein structure of CCDC120 is predicted to contain, as the name implies, a 65 amino acid coiled coil from positions 109-173.[14] Multiple algorithms identify 3 distinct sites where alpha-helical structures could form which are conserved in Gorilla gorilla gorilla and Danio rerio. Algorithms do not agree on any location for a beta sheet structure.[15]

Expression

Promoter

Algorithms suggest that CCDC120 has a promoter of 601bp,[16] this promoter contains a number of possible transcription factor sites as shown in the figure.

The nucleotide sequence of the 601 bp promoter for CCDC120 is shown with key transcription factors that are well-identified by algorithms labeled. (http://www.genomatix.de/)

References in Scientific Literature

CCDC120 was found to be upregulated under pulsed electromagnetic fields in human osteoblast-like cells.[17] CCDC120 has a 7 base deletion in a Metastatic Olfactory Neuroblastoma.[18] CCDC120 is downregulated after neonatal hypoxic-ischemic brain injury in rats.[19]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000147144 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000031150 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ↑ "Entrez Gene: CCDC120 coiled-coil domain containing 120 (Homo sapiens)".
  6. ↑ "Gene Cards: coiled-coil domain containing 120".
  7. ↑ "NCBI Nucleotide Search: CCDC120 Homo sapiens".
  8. ↑ "Dotlet".
  9. 1 2 "BLAST". NCBI.
  10. ↑ "NCBI Protein Search". NCBI. Retrieved 9 May 2013.
  11. ↑ "NCBI Protein: coiled-coil domain-containing protein 120 isoform 1 (Homo sapiens)".
  12. ↑ "STRING Interaction Analysis". STRING. Archived from the original on 26 March 2021. Retrieved 10 May 2013.
  13. ↑ "ExPasy Proteomics: Post-Translational Modification". ExPasy. Retrieved 11 May 2013.
  14. ↑ "Q96HB5 (CC120_HUMAN)". Uniprot. Retrieved 9 May 2013.
  15. ↑ "PELE". SDSC Biology Workbench. Retrieved 11 May 2013.
  16. ↑ "Genomatix Promoter Tools". Genomatix. Archived from the original on 2 December 2021. Retrieved 10 May 2013.
  17. ↑ Sollazzo V, Palmieri A, Pezzetti F, Massari L, Carinci F (August 2010). "Effects of pulsed electromagnetic fields on human osteoblastlike cells (MG-63): a pilot study". Clin. Orthop. Relat. Res. 468 (8): 2260–77. doi:10.1007/s11999-010-1341-5. PMC 2895828. PMID 20387020.
  18. ↑ Weiss GJ, Liang WS, Izatt T, Arora S, Cherni I, Raju RN, Hostetter G, Kurdoglu A, Christoforides A, Sinari S, Baker AS, Metpally R, Tembe WD, Phillips L, Von Hoff DD, Craig DW, Carpten JD (2012). "Paired tumor and normal whole genome sequencing of metastatic olfactory neuroblastoma". PLOS ONE. 7 (5): e37029. Bibcode:2012PLoSO...737029W. doi:10.1371/journal.pone.0037029. PMC 3359355. PMID 22649506.
  19. ↑ Kojima T, Ueda Y, Sato A, Sameshima H, Ikenoue T (February 2013). "Comprehensive gene expression analysis of cerebral cortices from mature rats after neonatal hypoxic-ischemic brain injury". J. Mol. Neurosci. 49 (2): 320–7. doi:10.1007/s12031-012-9830-5. PMID 22700374. S2CID 18021548.
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