CCDC22

Upredeni domen-sadržavajući protein 22 je protein koji je kod ljudi kodiran genom CCDC22.^[5]

CCDC22
Identifikatori
Aliasi	CCDC22
Vanjski ID-jevi	OMIM: 300859 MGI: 1859608 HomoloGene: 8515 GeneCards: CCDC22
Lokacija gena (čovjek) Hrom. Hromosom X[1] Bend Xp11.23 Početak 49,235,470 bp[1] Kraj 49,250,520 bp[1]
Lokacija gena (miš) Hrom. Hromosom X (miš)[2] Bend X A1.1|X 3.42 cM Početak 7,460,048 bp[2] Kraj 7,471,756 bp[2]
Ontologija gena Molekularna funkcija • cullin family protein binding • GO:0001948, GO:0016582 vezivanje za proteine Ćelijska komponenta • endozom • nukleoplazma • citosol • ćelijska komponenta Biološki proces • protein transport • positive regulation of I-kappaB kinase/NF-kappaB signaling • cytoplasmic sequestering of NF-kappaB • Golgi to plasma membrane transport • positive regulation of ubiquitin-dependent protein catabolic process • negative regulation of I-kappaB kinase/NF-kappaB signaling • cellular copper ion homeostasis • Posttranslacione modifikacije • protein ubiquitination • endocytic recycling Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	28952	54638
Ensembl	ENSG00000101997	ENSMUSG00000031143
UniProt	O60826	Q9JIG7
RefSeq (mRNK)	NM_014008	NM_138603
RefSeq (bjelančevina)	NP_054727	NP_613069
Lokacija (UCSC)	Chr X: 49.24 – 49.25 Mb	Chr X: 7.46 – 7.47 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Funkcija

Ovaj gen kodira protein koji sadrži domena upredene zavojnice. Kodirani protein funkcionira u regulaciji NF-kB (pojačivač jedarnog faktora kappa-lahkog lanca aktiviranih B ćelija), interakcijom sa COMMDima (proteini koji sadrže domen Murr1 metabolizma bakra). Dokazano je da mišji ortološki protein veže, koji sadrži kalcij-ovisne kopine, membranski vezane proteine, koji mogu funkcionirati u kalcijskoj signalizaciji. U ljudi je ovaj gen identificiran kao novi kandidat za sindromsku X-vezanu intelektualnu invalidnost.

Klinički značaj

Mutacije u CCDC22 povezane su sa Ritscher-Schinzelovim sindromom.^[6]

Reference

1. GRCh38: Ensembl release 89: ENSG00000101997 - Ensembl, maj 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000031143 - Ensembl, maj 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: Coiled-coil domain containing 22".
6. Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emmerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D (maj 2015). "Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome". European Journal of Human Genetics. 23 (5): 633–8. doi:10.1038/ejhg.2014.109. PMC 4402643. PMID 24916641.

Vanjski linkovi

• Lokacija ljudskog genoma CCDC22 i stranica sa detaljima o genu CCDC22 u UCSC Genome Browseru.

Dopunska literatura

• Harbour ME, Breusegem SY, Seaman MN (februar 2012). "Recruitment of the endosomal WASH complex is mediated by the extended 'tail' of Fam21 binding to the retromer protein Vps35". The Biochemical Journal. 442 (1): 209–20. doi:10.1042/BJ20111761. PMID 22070227.
• Voineagu I, Huang L, Winden K, Lazaro M, Haan E, Nelson J, McGaughran J, Nguyen LS, Friend K, Hackett A, Field M, Gecz J, Geschwind D (januar 2012). "CCDC22: a novel candidate gene for syndromic X-linked intellectual disability". Molecular Psychiatry. 17 (1): 4–7. doi:10.1038/mp.2011.95. PMC 3586744. PMID 21826058.
• Mulder J, Wernérus H, Shi TJ, Pontén F, Hober S, Uhlén M, Hökfelt T (juni 2007). "Systematically generated antibodies against human gene products: high throughput screening on sections from the rat nervous system". Neuroscience. 146 (4): 1689–703. doi:10.1016/j.neuroscience.2007.02.054. PMID 17478047.
• Chapuis J, Hot D, Hansmannel F, Kerdraon O, Ferreira S, Hubans C, Maurage CA, Huot L, Bensemain F, Laumet G, Ayral AM, Fievet N, Hauw JJ, DeKosky ST, Lemoine Y, Iwatsubo T, Wavrant-Devrièze F, Dartigues JF, Tzourio C, Buée L, Pasquier F, Berr C, Mann D, Lendon C, Alpérovitch A, Kamboh MI, Amouyel P, Lambert JC (novembar 2009). "Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease". Molecular Psychiatry. 14 (11): 1004–16. doi:10.1038/mp.2009.10. PMC 2860783. PMID 19204726.
• Starokadomskyy P, Gluck N, Li H, Chen B, Wallis M, Maine GN, Mao X, Zaidi IW, Hein MY, McDonald FJ, Lenzner S, Zecha A, Ropers HH, Kuss AW, McGaughran J, Gecz J, Burstein E (maj 2013). "CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling". The Journal of Clinical Investigation. 123 (5): 2244–56. doi:10.1172/JCI66466. PMC 3635737. PMID 23563313.
• Suttner K, Depner M, Wetzke M, Klopp N, von Mutius E, Illig T, Sparwasser T, Kabesch M (juni 2010). "Genetic variants harbored in the forkhead box protein 3 locus increase hay fever risk". The Journal of Allergy and Clinical Immunology. 125 (6): 1395–9. doi:10.1016/j.jaci.2010.02.017. PMID 20398921.
• Tomsig JL, Snyder SL, Creutz CE (mart 2003). "Identification of targets for calcium signaling through the copine family of proteins. Characterization of a coiled-coil copine-binding motif". The Journal of Biological Chemistry. 278 (12): 10048–54. doi:10.1074/jbc.M212632200. PMID 12522145.