Ciliary microtubule inner protein 1 is a protein that in humans is encoded by the CIMIP1 gene (previously C20orf85). This gene is not yet well understood by the scientific community.
Background Aliases CIMIP1 - ciliary microtubule inner protein 1 LLC1 - Low in Lung Cancer 1 bA196N14.1
Location It is found on chromosome 20, more specifically 20q13.32. It runs in the 5' to 3' direction on the top strand of chromosome 20. The gene HSPD1P19 or Heat Shock Protein Family D Member 1 Pseudogene 19 neighbors the gene, running before C20orf85, from the 5' to 3' end.
RNA mRNA C20orf85 has 805 nucleotides which encodes for the C20orf85 protein. So far this is the only known gene variant as of June 2022 and contains 4 exons. It has also been found to be expressed in samples of the testis, endometrium, and liver from HPA RNA-seq normal tissues.
Protein This protein contains 137 Amino acids and is most commonly called "uncharacterized protein C20orf85", or pfam14945. It has an approximate molecular weight of 15.5 kDa with an isoelectric point of 8.72. C20orf85 protein is rich in the amino acids tryptophan and proline, compared to other human proteins.
Structure According to iTasser and AlphaFold, the C20orf85 protein structure is predicted to have many more helices than sheets.
Protein Level Regulation The C20orf85 protein is predicted to be found in the extracellular space or the cytoplasm, per PSORTII, DeepLoc 1.0, and DeepLoc 2.0. It is tissue specific, being expressed in the lungs, trachea, testis, and ovary. There are also 3 predicted sites of SUMOylation and phosphorylation.
Evolution
C20orf85 is predicted to evolve at a moderate pace, slower than the known fast evolving protein Fibrinogen Alpha but faster than the known slow evolving protein Cytochrome C.
Paralog Protein C20orf85 is paralogous with protein c2orf50. The two human proteins have been estimated to diverge from each other around 750 million years ago.
Orthologs
C20orf85 has vast amounts of orthologs including mammals, reptiles, and birds. The table to the right shows a wide range of orthologs chosen because of the type of animal they were and the sequence identity.
Interacting Proteins C20orf85 has many interacting proteins, the proteins below were included because of their association to diseases and similarity in localization with C20orf85. Abbreviated nameFull nameBasis of identification AND
What does it do?Additional notesMD2L2Mitotic spindle assembly checkpoint protein MAD2B2 hybrid prey
Adapter protein that interacts with various proteinsNucleus and cytoplasm localization and is ubiquitously expressed
Fanconi anemia diseaseFHL2Four and a half LIM domains protein 2Two hybrid preyLocalized in the cytoplasm and nucleus
Many associated diseasesALKBH7Alpha-ketoglutarate-dependent dioxygenase alkB homolog 7, mitochondrialValidated 2 hybrid
A protein hydroxylase and isrequired to induce programmed necrosisMitochondrion matrix but expressed in the ovary, like c20orf85
No likely diseasesCNOT2Trsncription complex subunit 22 Hybrid
Various cellular processes, esp in translationLocalization in the cytoplasm and nucleus
Involved in IDNADFS CABP2Calcium binding protein 22 Hybrid
Required for the inner hair cells of the earLocalized in cytoplasm, cell membrane and golgi apparatus
Involved in autosomal recessive deafness
Clinical Significance
Research conducted by Kyeong-Man Hong discovered that there is an inactivation of LLC1 (C20orf85) in some patients with non-small cell lung cancer but the reason for this is currently unknown. The research titled "Immunohistochemical localization of LLC1 in human tissues and its limited expression in non-small cell lung cancer" found expression in the lung but no further findings have been evaluated from that article.
Mutations There are many mutations found from the SNPs NCBI dataset of C20orf85, these included below were mentioned as described in the "significance" column. SNPPosition
(aa)Base ChangeAmino Acid ChangeMutation TypeSignificanceClinical Significancers12070888907A-->GSer-->GlyMissenseHighly conserved with phosphorylation site and O-beta-GlcNAc siteNone knownrs90782200016C-->TLeu-->PheMissenseHighly conservedNone knownrs78011781624A-->TLys--> N/ANonsenseSumoylation siteNone knownrs200564315100G-->AGly-->SerMissenseHighly conservedNone knownrs754178666137A-->GHis-->ArgMissenseImportant to localizationNone known
References