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CFDP1
Identifikatori
Aliasi	CFDP1
Vanjski ID-jevi	OMIM: 608108 MGI: 1344403 HomoloGene: 4611 GeneCards: CFDP1
Lokacija gena (čovjek)
Hrom.	Hromosom 16 (čovjek)
Kraj	75,433,503 bp
Lokacija gena (miš)
Hrom.	Hromosom 8 (miš)
Kraj	111,854,291 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• molekularna funkcija;
Ćelijska komponenta	• Primarno suženje; • kinetohor; • hromosom; • ćelijska komponenta;
Biološki proces	• multicellular organism development; • negative regulation of fibroblast apoptotic process; • Ćelijska adhezija; • regulation of cell population proliferation; • regulation of cell shape; • GO:0022610 biološki proces;
	Izvori:Amigo / QuickGO
Ortolozi
	10428
	23837
	ENSG00000153774
	ENSMUSG00000031954
	Q9UEE9
	O88271
	NM_006324
	NM_011801
	NP_006315
	NP_035931; NP_001355264; NP_001355265; NP_001355266; NP_001355267
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Protein 1 kraniofacijalnog razvoja je protein koji je kod ljudi kodiran genom CFDP1.^[5]^[6]^[7]^[8]

Analizom genomske sekvence i ispitivanjem hibridnih ćelijskih linija čovjeka i glodara, Takahashi et al. (1998) mapirali su gen CFDP1 u sekvenci 16q22. Diekwisch et al (1999), pomoću fluorescentne hibridizacije in situ, mapirali su gen CFDP1 na hromosomu 16, u rasponu q22.2–q22.3.

Struktura

Takahashi et al. (1998) utvrdili su da gen CFDP1 sadrži sedam egzona. Uzvodna sekvenca sadrži mjesta vezanja za SP1, AP1 i ETS1, kao i ostrvo CpG.^[9]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 299 aminokiselina, a molekulska težina 33.593 Da.^[10].

10	20	30	40	50
MEEFDSEDFS	TSEEDEDYVP	SGGEYSEDDV	NELVKEDEVD	GEEQTQKTQG
KKRKAQSIPA	RKRRQGGLSL	EEEEEEDANS	ESEGSSSEEE	DDAAEQEKGI
GSEDARKKKE	DELWASFLND	VGPKSKVPPS	TQVKKGEETE	ETSSSKLLVK
AEELEKPKET	EKVKITKVFD	FAGEEVRVTK	EVDATSKEAK	SFFKQNEKEK
PQANVPSALP	SLPAGSGLKR	SSGMSSLLGK	IGAKKQKMST	LEKSKLDWES
FKEEEGIGEE	LAIHNRGKEG	YIERKAFLDR	VDHRQFEIER	DLRLSKMKP

Simboli

C: Cistein
D: Asparaginska kiselina
E: Glutaminska kiselina
F: Fenilalanin
G: Glicin
H: Histidin
I: Izoleucin
K: Lizin
L: Leucin
M: Metionin
N: Asparagin
P: Prolin
Q: Glutamin
R: Arginin
S: Serin
T: Treonin
V: Valin
W: Triptofan
Y: Tirozin

Kloniranje i ekspresija

Nobukuni et al. (1997) klonirali su Cfdp1 iz goveđeg mozga, kojeg su označili kao Bcnt. Pretražujući EST baze podataka za ljudske sekvence koje dijele sličnost s Bcnt, 5-bazne i 3-bazne RACE biblioteke cDNK posteljice i pregledavanjem biblioteke cDNK mozga, klonirali su CFDP1. Protein ima izračunatu molekulsku masu od oko 24 kD. Goveđi Cfdp1 sadrži veliki središnji ponavljajući element i par internih ponavljanja na C-terminalu, ali CFDP1 za čovjeka i miša nema središnji ponavljajući element i ima samo jedno od dva unutrašnja ponavljanja.^[11] Takahashi et al. (1998) proučavali su CFDP1 cDNK koje su klonirali Nobukuni et al. (1997) iz biblioteka cDNK za placentu i mozak. Izvedeni protein CFDP1 sadrži 299 aminokiselina. Northern blot analizom otkriven je transkript od 1,2 kb u svim ispitivanim tkivima. Diekwisch et al. (1999) klonirani miš Cfdp1, kojeg su označili kao Cp27. Izvedeni protein od 295 aminokiselina ima izračunatu molekularnu masu od 33 kD i dijeli 85% homologije s ljudskim CFDP1. Ima strukturu heliks-petlja-heliks i unutrašnju sekvencu ponavljanja. Western blot analizom prividna molekulaka masa iznosila je 27 kD. Northern blot analizom otkriven je transkript od 1,8 kb izražen na visokim nivoima u razvoju zubnih mišića i na nižim nivoima u srcu, plućima i jetri. Hibridizacija in situ i imunohistokemijsko bojenje otkrili su široko rasprostranjenu ekspresiju tokom razvoja mišjeg embriona.

Funkcija

Koristeći kulturu organa, Diekwisch i Luan (2002) ispitivali su ulogu Cp27 u razvoju kutnjačkih zuba miša. Morfometrijska analiza otkrila je povećanje veličine zuba u kulturama tretiranim peptidom Cp27. Suprotno tome, zubni organi tretirani antitijelima protiv Cp27 smanjivali su se i postepeno raspadali. Skupina tretirana antitijelima Cp27 pokazala je povećan broj apoptotiskih ćelija, a imunohistohemijsko bojenje za keratansulfatne proteoglikane sugeriralo je da su preživjele ćelije stekle hrskavični fenotip.^[12]^[13]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000153774 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000031954 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Takahashi I, Nobukuni T, Ohmori H, Kobayashi M, Tanaka S, Ohshima K, Okada N, Masui T, Hashimoto K, Iwashita S (Jul 1998). "Existence of a bovine LINE repetitive insert that appears in the cDNA of bovine protein BCNT in ruminant, but not in human, genomes". Gene. 211 (2): 387–94. doi:10.1016/S0378-1119(98)00136-X. PMID 9602175.
^ Nobukuni T, Kobayashi M, Omori A, Ichinose S, Iwanaga T, Takahashi I, Hashimoto K, Hattori S, Kaibuchi K, Miyata Y, Masui T, Iwashita S (Mar 1997). "An Alu-linked repetitive sequence corresponding to 280 amino acids is expressed in a novel bovine protein, but not in its human homologue". J Biol Chem. 272 (5): 2801–7. doi:10.1074/jbc.272.5.2801. PMID 9006920.
^ Diekwisch TG, Luan X (maj 2002). "CP27 function is necessary for cell survival and differentiation during tooth morphogenesis in organ culture". Gene. 287 (1–2): 141–7. doi:10.1016/S0378-1119(01)00868-X. PMID 11992732.
^ "Entrez Gene: CFDP1 craniofacial development protein 1".
^ Takahashi, I., Nabukuni, T., Ohmori, H., Kobayashi, M., Tanaka, S., Ohshima, K., Okada, N., Masui, T., Hashimoto, K., Iwashita, S. Existence of a bovine LINE repetitive insert that appears in the cDNA of bovine protein BCNT in ruminant, but not in human, genomes. Gene 211: 387-394, 1998. PubMed: 9602175
^ "UniProt, Q9UEE9". Pristupljeno 3. 7. 2021.
^ Nobukuni, T., Kobayashi, M., Omori, A., Ichinose, S., Iwanaga, T., Takahashi, I., Hashimoto, K., Hattori, S., Kaibuchi, K., Miyata, Y., Masui, T., Iwashita, S. An Alu-linked repetitive sequence corresponding to 280 amino acids is expressed in a novel bovine protein, but not in its human homologue. J. Biol. Chem. 272: 2801-2807, 1997. PubMed: 9006920
^ Diekwisch, T. G. H., Luan, X. CP27 function is necessary for cell survival and differentiation during tooth morphogenesis in organ culture. Gene 287: 141-147, 2002. PubMed: 11992732
^ Diekwisch, T. G. H., Marches, F., Williams, A., Luan, X. Cloning, gene expression, and characterization of CP27, a novel gene in mouse embryogenesis. Gene 235: 19-30, 1999. PubMed: 10415329

Vanjski linkovi

Lokacija ljudskog genoma CFDP1 i stranica sa detaljima o genu CFDP1 u UCSC Genome Browseru.

Dopunska literatura

Iwashita S (2002). "[A novel type protein, Bcnt, that includes the region derived from a long interspersed nucleotide element]". Seikagaku. 73 (12): 1435–8. PMID 11831036.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Colland F, Jacq X, Trouplin V, et al. (2004). "Functional proteomics mapping of a human signaling pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Diekwisch TG, Marches F, Williams A, Luan X (1999). "Cloning, gene expression, and characterization of CP27, a novel gene in mouse embryogenesis". Gene. 235 (1–2): 19–30. doi:10.1016/S0378-1119(99)00220-6. PMID 10415329.
Iwashita S, Nobukuni T, Tanaka S, et al. (1999). "Partial nuclear localization of a bovine phosphoprotein, BCNT, that includes a region derived from a LINE repetitive sequence in Ruminantia". Biochim. Biophys. Acta. 1427 (3): 408–16. doi:10.1016/s0304-4165(99)00049-5. PMID 10350657.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000153774 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000031954 - 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.

[pmid9602175-5] Takahashi I, Nobukuni T, Ohmori H, Kobayashi M, Tanaka S, Ohshima K, Okada N, Masui T, Hashimoto K, Iwashita S (Jul 1998). "Existence of a bovine LINE repetitive insert that appears in the cDNA of bovine protein BCNT in ruminant, but not in human, genomes". Gene. 211 (2): 387–94. doi:10.1016/S0378-1119(98)00136-X. PMID 9602175.

[pmid9006920-6] Nobukuni T, Kobayashi M, Omori A, Ichinose S, Iwanaga T, Takahashi I, Hashimoto K, Hattori S, Kaibuchi K, Miyata Y, Masui T, Iwashita S (Mar 1997). "An Alu-linked repetitive sequence corresponding to 280 amino acids is expressed in a novel bovine protein, but not in its human homologue". J Biol Chem. 272 (5): 2801–7. doi:10.1074/jbc.272.5.2801. PMID 9006920.

[pmid11992732-7] Diekwisch TG, Luan X (maj 2002). "CP27 function is necessary for cell survival and differentiation during tooth morphogenesis in organ culture". Gene. 287 (1–2): 141–7. doi:10.1016/S0378-1119(01)00868-X. PMID 11992732.

[entrez-8] "Entrez Gene: CFDP1 craniofacial development protein 1".

[9] Takahashi, I., Nabukuni, T., Ohmori, H., Kobayashi, M., Tanaka, S., Ohshima, K., Okada, N., Masui, T., Hashimoto, K., Iwashita, S. Existence of a bovine LINE repetitive insert that appears in the cDNA of bovine protein BCNT in ruminant, but not in human, genomes. Gene 211: 387-394, 1998. PubMed: 9602175

[UniProt-10] "UniProt, Q9UEE9". Pristupljeno 3. 7. 2021.

[11] Nobukuni, T., Kobayashi, M., Omori, A., Ichinose, S., Iwanaga, T., Takahashi, I., Hashimoto, K., Hattori, S., Kaibuchi, K., Miyata, Y., Masui, T., Iwashita, S. An Alu-linked repetitive sequence corresponding to 280 amino acids is expressed in a novel bovine protein, but not in its human homologue. J. Biol. Chem. 272: 2801-2807, 1997. PubMed: 9006920

[12] Diekwisch, T. G. H., Luan, X. CP27 function is necessary for cell survival and differentiation during tooth morphogenesis in organ culture. Gene 287: 141-147, 2002. PubMed: 11992732

[13] Diekwisch, T. G. H., Marches, F., Williams, A., Luan, X. Cloning, gene expression, and characterization of CP27, a novel gene in mouse embryogenesis. Gene 235: 19-30, 1999. PubMed: 10415329

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CFDP1