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Identification
HMDB Protein ID HMDBP14100
Secondary Accession Numbers None
Name Coiled-coil domain-containing protein 115
Synonyms Not Available
Gene Name CCDC115
Protein Type Unknown
Biological Properties
General Function Not Available
Specific Function Accessory component of the proton-transporting vacuolar (V)-ATPase protein pump involved in intracellular iron homeostasis. In aerobic conditions, required for intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation. Necessary for endolysosomal acidification and lysosomal degradation (PubMed:28296633). May be involved in Golgi homeostasis (PubMed:26833332).
Pathways Not Available
Reactions Not Available
GO Classification
Biological Process
lysosomal lumen acidification
vacuolar proton-transporting V-type ATPase complex assembly
cellular iron ion homeostasis
cellular response to increased oxygen levels
lysosomal protein catabolic process
Cellular Component
endoplasmic reticulum
vacuolar proton-transporting V-type ATPase complex
extrinsic component of endoplasmic reticulum membrane
lysosome
endoplasmic reticulum-Golgi intermediate compartment
COPI-coated vesicle
membrane
endosome
Molecular Function
unfolded protein binding
Cellular Location Not Available
Gene Properties
Chromosome Location Not Available
Locus Not Available
SNPs Not Available
Gene Sequence Not Available
Protein Properties
Number of Residues 180
Molecular Weight 19760.345
Theoretical pI 6.948
Pfam Domain Function Not Available
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence Not Available
GenBank ID Protein Not Available
UniProtKB/Swiss-Prot ID Q96NT0
UniProtKB/Swiss-Prot Entry Name CC115_HUMAN
PDB IDs Not Available
GenBank Gene ID Not Available
GeneCard ID Not Available
GenAtlas ID Not Available
HGNC ID Not Available
References
General References
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  3. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
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  5. Pellicano F, Inglis-Broadgate SL, Pante G, Ansorge W, Iwata T: Expression of coiled-coil protein 1, a novel gene downstream of FGF2, in the developing brain. Gene Expr Patterns. 2006 Mar;6(3):285-93. doi: 10.1016/j.modgep.2005.07.004. Epub 2005 Dec 27. [PubMed:16378758 ]
  6. Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Perez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Perez-Cerda C, Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G, Foulquier F, Marquardt T, Lefeber DJ: CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation. Am J Hum Genet. 2016 Feb 4;98(2):310-21. doi: 10.1016/j.ajhg.2015.12.010. Epub 2016 Jan 28. [PubMed:26833332 ]
  7. Miles AL, Burr SP, Grice GL, Nathan JA: The vacuolar-ATPase complex and assembly factors, TMEM199 and CCDC115, control HIF1alpha prolyl hydroxylation by regulating cellular iron levels. Elife. 2017 Mar 15;6. doi: 10.7554/eLife.22693. [PubMed:28296633 ]