Coiled-coil domain containing protein 180 (CCDC180)
editCoiled-coil domain containing protein 180 (CCDC180) is a human protein of unknown function that is encoded by the CCDC180 gene located on chromosome 9. It is also known by the aliases KIAA1529, BDAG1, and C9orf174.[1]
Gene Features
editThe gene encoding this protein is 71,221 bases long, and the mRNA transcript is 5,635 bases long and contains 48 exons.[2]
Protein Features
editThe CCDC180 protein contains 1,701 amino acids.[3] The protein contains two conserved domains of unknown function, designated DUF4455 and DUF4456.[4] There are also two coiled-coil domains and a glucine-rich domain.[5]
Homology
editThere are no paralogs for this gene, but there are orthologs in a wide variety of organisms, extending back to single-celled green algae. CCDC180 is not conserved in bacteria, archaea, plants, fungi, or protists. The following table includes a subset of species containing orthologs of CCDC180. It is not exhaustive, but it indicates the variety of species containing orthologs of CCDC180.
| Sequence # | Genus and Species | Common Name | Divergence[6] | Accession # | Sequence Length | % Identity | % Similarity |
|---|---|---|---|---|---|---|---|
| 1 | Homo sapiens | Human | - | NP_065944.2 | 1701 | - | - |
| 2 | Pan paniscus | Bonobo | 6.6 mya | XP_008972301.1 | 1703 | 99% | 99% |
| 3 | Capra hircus | Goat | 97.5 mya | XP_013821462.1 | 1746 | 70% | 83% |
| 4 | Physeter cotodon | Sperm whale | 97.5 mya | XP_007131156.1 | 1744 | 72% | 84% |
| 5 | Struthio camelus | Ostrich | 320.5 mya | XP_009664045.1 | 1605 | 39% | 58% |
| 6 | Apteryx australis | Brown kiwi | 320.5 mya | XP_013797236.1 | 1606 | 40% | 60% |
| 7 | Alligator sinensis | Chinese alligator | 320.5 mya | XP_006029881.1 | 1558 | 40% | 59% |
| 8 | Gekko japonicus | Gecko | 320.5 mya | XP_015266758.1 | 1638 | 40% | 58% |
| 9 | Thamnophis sirtalis | Garter snake | 320.5 mya | XP_013926700.1 | 556 | 41% | 56% |
| 10 | Chelonia mydas | Green sea turtle | 320.5 mya | XP_007061172.1 | 1632 | 45% | 68% |
| 11 | Salmo salar | Atlantic salmon | 429.6 mya | XP_014027541.1 | 1488 | 38% | 54% |
| 12 | Lepisosteus oculatus | Spotted gar | 429.6 mya | XP_015222467.1 | 1480 | 40% | 59% |
| 13 | Ciona intestinalis | Sea squirt | 733.0 mya | XP_002123678.2 | 1571 | 32% | 51% |
| 14 | Branchiostoma floridae | Lancelet | 733.0 mya | XP_002609423.1 | 1515 | 33% | 50% |
| 15 | Saccoglossus kowalevskii | Acorn worm | 747.8 mya | XP_002742433.1 | 1523 | 33% | 53% |
| 16 | Priapulida caudatus | Priapulid worm | 847.0 mya | XP_014672086.1 | 1293 | 28% | 46% |
| 17 | Crassostrea gigas | Pacific oyster | 847.0 mya | XP_011430927.1 | 1144 | 33% | 51% |
| 18 | Lottia gigantea | Owl limpet | 847.0 mya | XP_009044533.1 | 886 | 34% | 52% |
| 19 | Lingula anatina | Brachiopod | 847.0 mya | XP_013409374.1 | 1523 | 35% | 53% |
| 20 | Chlamydomonas reinhardtii | Chlamydomonas | 1513.9 mya | XP_001694909.1 | 1544 | 20% | 40% |
| 21 | Salpingoeca rosetta | Choanoflagellate | 1724.7 mya | XP_004997848.1 | 1514 | 24% | 49% |
Evolutionary History
editCCDC180 is a relatively quickly-evolving gene compared to other well-known genes. There are no known family members, splice variants or isoforms, or evidence of gene duplications in the history of the gene.
Disease Association
editA single-nucleotide polymorphism (SNP) in the gene has been shown to be significantly associated with Behcet's disease, and this designation led to the proposed alias Behcet's disease-associated gene 1 (BDAG1).[7] The gene has been shown to be over-transmitted in families with two or more siblings affected by both cleft lip/palate and dental abnormalities.[8] This gene is also indicated to be over-expressed in the peripheral blood mononuclear cells (PBMCs) of patients with bipolar disorder.[9]
Expression
editReferences
edit- ^ "CCDC180". GeneCards. Weizmann Institute of Science. Retrieved 7 February 2016.
- ^ "Homo sapiens coiled-coil domain containing 180 (CCDC180), mRNA". NCBI. National Center for Bioinformation. Retrieved 7 February 2016.
- ^ "coiled-coil domain-containing protein 180 [Homo sapiens]". coiled-coil domain-containing protein 180 [Homo sapiens]. National Center for Bioinformation. Retrieved 7 February 2016.
- ^ "coiled-coil domain-containing protein 180 [Homo sapiens]". coiled-coil domain-containing protein 180 [Homo sapiens]. National Center for Bioinformation. Retrieved 7 February 2016.
- ^ "UniProtKB - Q9P1Z9 (CC180_HUMAN)". UniProt. UniProt Consortium. Retrieved 7 February 2016.
- ^ "TimeTree :: The Timescale of Life". www.timetree.org. Retrieved 2016-02-28.
- ^ Fei, Yiping; Webb, Ryan; Cobb, Beth L; Direskeneli, Haner; Saruhan-Direskeneli, Guher; Sawalha, Amr H (2009). "Identification of novel genetic susceptibility loci for Behçet's disease using a genome-wide association study". Arthritis research & therapy. 11 (3): R66. doi:10.1186/ar2695. PMID 19442274. Retrieved 7 February 2016.
{{cite journal}}: CS1 maint: unflagged free DOI (link) - ^ Vieira, Alexandre R; McHenry, Toby G; Daack-Hirsch, Sandra; Murray, Jeffrey C; Marazita, Mary L (2008). "Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts". Genetics in medicine : official journal of the American College of Medical Genetics. 10 (9): 668–74. doi:10.1097GIM.0b013e3181833793. PMID 18978678. Retrieved 7 February 2016.
{{cite journal}}: Check|doi=value (help) - ^ Herberth, Marlis; Koethe, Dagmar; Levin, Yishai; Schwarz, Emanuel; Krzyszton, Natalia D; Schoeffman, Stephanie; Ruh, Hermelindis; Rahmoune, Hassan; Kranaster, Laura; Schoenborn, Torsten; Leweke, Markus F; Guest, Paul C; Bahn, Sabine (2011). "Peripheral profiling analysis for bipolar disorder reveals markers associated with reduced cell survival". Proteomics. 11 (1): 94-105. doi:10.1002/pmic.201000291. PMID 21182197. Retrieved 7 February 2016.