C11orf1

C11orf1
Identifikatori
Aliasi	C11orf1
Vanjski ID-jevi	MGI: 1915971 HomoloGene: 11242 GeneCards: C11orf1
Lokacija gena (čovjek)
Hrom.	Hromosom 11 (čovjek)
Kraj	111,885,975 bp
Lokacija gena (miš)
Hrom.	Hromosom 9 (miš)
Kraj	50,686,820 bp
Ontologija gena
Molekularna funkcija	• molekularna funkcija;
Ćelijska komponenta	• jedro; • nukleoplazma;
Biološki proces	• GO:0022610 biološki proces;
	Izvori:Amigo / QuickGO
Ortolozi
	64776
	68721
	ENSG00000137720
	ENSMUSG00000037971
	Q9H5F2
	Q9D131
	NM_022761; NM_001330371
	NM_023483; NM_001311073; NM_001361107; NM_001361108
	NP_001317300; NP_073598
	NP_001298002; NP_075972; NP_001348036; NP_001348037
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Otvoreni okvir čitanja 1 hromosoma 11, znan i kao C11orf1, je gen koji sadrži protein.^[5] Dva hibridna skrining kvasca otkrila su da se vežu za SETDB1, histonski protein metiltransferaza. SETDB1 je upleten u Huntingtonovu bolest, neurodegenerativni poremećaj.^[6]

C11orf1 je jedarni protein s nepoznatom funkcijom, ali je pokazano da ima preferencijalnu ekspresiju u nekim bolesnim stanjima u podacima mikrozraka.^[7]^[8]

Distribucija po vrstama

C11orf1 prikazuje konzervacijukod sisara i ortolozi se mogu naći kod morske šprice i morske anemone. Donja tablica prikazuje neke ortologe pronađene pomoću BLASTa.^[9]

Vrsta	Uobičajeno ime	Pristup bazi NCBI	Identet skvence	Očekivana vrijednost	Dužina (aminokiseline)	Oznaka gena
Homo sapiens	Čovjek	CAG33659	100%	8e⁻⁸⁶	150	C11orf1
Bos taurus	Govedo	NP_001033266.1	85%	1e⁻⁷⁰	149	UPF0686 protein C11orf1 homolog
Canis lupus familiaris	Pas	XP_536577.1	88%	3e⁻⁶⁸	485	PREDVIĐENO: hipotetski protein XP_536577 Canis familiaris
Mus musculus	Miš	NP_075972.2	78%	4e⁻⁶⁵	466	Hipotetski protein LOC68721 Mus musculus
Ciona intestinalis	Morska štrcaljka	XP_002127073.1	49%	3e⁻²³	156	PREDVIĐENO: sličan predvođenom proteinu Ciona intestinalis

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 150 aminokiselina, a molekulska težina 17.785 Da.^[10]

10	20	30	40	50
MAASQCLCCS	KFLFQRQNLA	CFLTNPHCGS	LVNADGHGEV	WTDWNNMSKF
FQYGWRCTTN	ENTYSNRTLM	GNWNQERYDL	RNIVQPKPLP	SQFGHYFETT
YDTSYNNKMP	LSTHRFKREP	HWFPGHQPEL	DPPRYKCTEK	STYMNSYSKP

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

Gen

C11orf1alazi se na hromosomu 11, a susjedi su mu:

FDXACB1-201
ALG9-201
ALG9-202
AP001781.5-201

Protein

Struktura

Ovaj protein je dio superporodice UPF0686. Ovu porodicu karakterizira prisutnost domena nepoznate funkcije (DUF) 1143 koji dijeli porodica.^[11] Ova porodica DUF1143 ima domen koji uključuje gotovo svih 149 od 150 aminokiselina u ljudskom ortologu. C11orf1 ima šest varijanti splajsosoma i jednu varijantu bez prerade.

Predviđena svojstva

Sljedeća svojstva C11orf1 predviđena su pomoću bioinformatičke analize:

Molekulska težina: 17,76 KDal^[12]
Izoelektrična tačka: 7,28^[13]
Posttranslacijske modifikacije: predviđeno je dvanaest mogućih posttranslacijskih modifikacija:
- Dvije glikozilacije O- (N-acetilaminogalaktozil) -L-treonina na pozicijama 138 i 142 na proteinskoj sekvenci^[14]
- Dva mjesta fosforilacije O-fosfo-L-serina na 112 i 141.^[14]
- Četiri mjesta fosforilacije O-fosfo-L-treonina na 59, 99, 113 i 138.^[14]
- Četiri mjesta fosforilacije O4'-fosfo-L-tirozina na 64, 101, 105 i 143.^[14]

Tkivna distribucija

Čini se da je C11orf1 sveprisutno eksprimiran na niskim nivoima, ali sa posebno visokom ekspresijom u paratiroidnoj žlijezdi. Podaci o ekspresiji ukazuju na ekspresiju u većini tkiva.^[15] U jednom eksperimentu je također otkriveno da je ovaj gen nedovoljno eksprimiran kod pacijenata s Huntingtonovom bolešću, dok je SETDB1 prekomjerno eksprimiran.^[7]

Partneri vezanja

Utvrđeno je da je ljudski protein SET domena bifurkirana 1, vezujući partner za C11orf1 dvohibridnog kvasca.^[16]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000137720 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000037971 - 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.
^ "Entrez Gene: C11orf1".
^ Thomas EA, Coppola G, Desplats PA, Tang B, Soragni E, et al. (juni 2008). "CThe HDAC inhibitor 4b ameliorates the disease phenotype and transcriptional abnormalities in Huntington's disease transgenic mice". Proc. Natl. Acad. Sci. USA. 105 (1): 15564–69. doi:10.1073/pnas.0804249105. PMC 2563081. PMID 18829438.
^ ^a ^b "E-AFMX-6: Transcription profiling of caudate nucleus, frontal cortex, and cerebellum samples from 44 Huntingtons disease HD-gene-positive cases and 36 age- and sex-matched controls".
^ O'Brien KP, Tapia-Páez I, Ståhle-Bäckdahl M, Kedra D, Dumanski JP (juni 2000). "Characterization of five novel human genes in the 11q13-q22 region". Biochemical and Biophysical Research Communications. 273 (1): 90–4. doi:10.1006/bbrc.2000.2910. PMID 10873569.
^ "BLAST: Basic Local Alignment Search Tool". National Center for Biotechnology Information, United States National Institutes of Health. Pristupljeno 7. 5. 2009.
^ "UniProt, Q9H5F2". Pristupljeno 17. 8. 2021.
^ "CDD: Conserved Domain Database (NCBI)".
^ Brendel V, Bucher P, Nourbakhsh IR, Blaisdell BE, Karlin S (mart 1992). "Methods and algorithms for statistical analysis of protein sequences". Proceedings of the National Academy of Sciences of the United States of America. 89 (6): 2002–6. doi:10.1073/pnas.89.6.2002. PMC 48584. PMID 1549558.
^ Kozlowski, LP (21. 10. 2016). "IPC - Isoelectric Point Calculator". Biology Direct. 11 (1): 55. doi:10.1186/s13062-016-0159-9. PMC 5075173. PMID 27769290. Arhivirano s originala, 29. 4. 2013. Pristupljeno 18. 6. 2019.
^ ^a ^b ^c ^d "UniProt Database".
^ "Unigene (EST profile viewer) Human C11orf1".
^ "SET domain, bifurcated 1 [Homo sapiens]". Protein. National Center for Biotechnology Information, United States National Institutes of Health. Pristupljeno 10. 5. 2009.

Dopunska literatura

Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070. S2CID 8235923.
Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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.
O'Brien KP, Tapia-Páez I, Stãhle-Bäckdahl M, et al. (2000). "Characterization of five novel human genes in the 11q13-q22 region". Biochem. Biophys. Res. Commun. 273 (1): 90–4. doi:10.1006/bbrc.2000.2910. PMID 10873569.
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.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.

Vanjski linkovi

Lokacija ljudskog genoma C11orf1 i stranica sa detaljima o genu C11orf1 u UCSC Genome Browseru.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000137720 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000037971 - 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.

[entrez-5] "Entrez Gene: C11orf1".

[pmid10873569-6] Thomas EA, Coppola G, Desplats PA, Tang B, Soragni E, et al. (juni 2008). "CThe HDAC inhibitor 4b ameliorates the disease phenotype and transcriptional abnormalities in Huntington's disease transgenic mice". Proc. Natl. Acad. Sci. USA. 105 (1): 15564–69. doi:10.1073/pnas.0804249105. PMC 2563081. PMID 18829438.

[Atlas_micro-7] "E-AFMX-6: Transcription profiling of caudate nucleus, frontal cortex, and cerebellum samples from 44 Huntingtons disease HD-gene-positive cases and 36 age- and sex-matched controls".

[autogenerated1-8] O'Brien KP, Tapia-Páez I, Ståhle-Bäckdahl M, Kedra D, Dumanski JP (juni 2000). "Characterization of five novel human genes in the 11q13-q22 region". Biochemical and Biophysical Research Communications. 273 (1): 90–4. doi:10.1006/bbrc.2000.2910. PMID 10873569.

[urlBLAST:_Basic_Local_Alignment_Search_Tool-9] "BLAST: Basic Local Alignment Search Tool". National Center for Biotechnology Information, United States National Institutes of Health. Pristupljeno 7. 5. 2009.

[UniProt-10] "UniProt, Q9H5F2". Pristupljeno 17. 8. 2021.

[CDD-11] "CDD: Conserved Domain Database (NCBI)".

[SAPS-12] Brendel V, Bucher P, Nourbakhsh IR, Blaisdell BE, Karlin S (mart 1992). "Methods and algorithms for statistical analysis of protein sequences". Proceedings of the National Academy of Sciences of the United States of America. 89 (6): 2002–6. doi:10.1073/pnas.89.6.2002. PMC 48584. PMID 1549558.

[Kozlowski-13] Kozlowski, LP (21. 10. 2016). "IPC - Isoelectric Point Calculator". Biology Direct. 11 (1): 55. doi:10.1186/s13062-016-0159-9. PMC 5075173. PMID 27769290. Arhivirano s originala, 29. 4. 2013. Pristupljeno 18. 6. 2019.

[Uniprot-14] "UniProt Database".

[ESTHuman-15] "Unigene (EST profile viewer) Human C11orf1".

[Y2H-16] "SET domain, bifurcated 1 [Homo sapiens]". Protein. National Center for Biotechnology Information, United States National Institutes of Health. Pristupljeno 10. 5. 2009.

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