Coiled-coil domain containing protein 120

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.

CCDC120
Identifiers
Aliases	CCDC120, JM11, Coiled-coil domain containing protein 120, coiled-coil domain containing 120
External IDs	OMIM: 300947; MGI: 1859619; HomoloGene: 14146; GeneCards: CCDC120; OMA:CCDC120 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xp11.23 Start 49,053,572 bp[1] End 49,069,857 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X A1.1|X 3.48 cM Start 7,597,953 bp[2] End 7,617,144 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of leg skin of abdomen olfactory zone of nasal mucosa buccal mucosa cell right hemisphere of cerebellum minor salivary glands gonad anterior pituitary vagina ectocervix Top expressed in lip otic vesicle saccule zygote neural tube intestinal villus otic placode cerebellar cortex yolk sac esophagus More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component cytoplasm growth cone endosome cell projection centriole cytoskeleton centriolar subdistal appendage Biological process multicellular organism development protein localization microtubule anchoring at centrosome Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 90060 54648 Ensembl ENSG00000147144 ENSMUSG00000031150 UniProt Q96HB5 A2AEV7 RefSeq (mRNA) NM_033626 NM_001163321 NM_001163322 NM_001163323 NM_001271835 NM_001271836 NM_207202 RefSeq (protein) NP_001156793 NP_001156794 NP_001156795 NP_001258764 NP_001258765 NP_296375 NP_997085 Location (UCSC) Chr X: 49.05 – 49.07 Mb Chr X: 7.6 – 7.62 Mb PubMed search [3] [4]
Wikidata
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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]