C11orf54

C11orf54
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	1XCR
Identifikatori
Aliasi	C11orf54
Vanjski ID-jevi	OMIM: 615810 MGI: 1918234 HomoloGene: 8531 GeneCards: C11orf54
Lokacija gena (čovjek)
Hrom.	Hromosom 11 (čovjek)
Kraj	93,764,749 bp
Lokacija gena (miš)
Hrom.	Hromosom 9 (miš)
Kraj	15,217,744 bp
Ontologija gena
Molekularna funkcija	• vezivanje iona cinka; • GO:0001948, GO:0016582 vezivanje za proteine; • hydrolase activity; • hydrolase activity, acting on ester bonds; • vezivanje iona metala;
Ćelijska komponenta	• Egzosom; • jedro; • nukleoplazma; • nuclear body;
Biološki proces	• metabolizam;
	Izvori:Amigo / QuickGO
Ortolozi
	28970
	70984
	ENSG00000182919
	ENSMUSG00000031938
	Q9H0W9
	Q91V76
NM_001286067; NM_001286068; NM_001286069; NM_001286070; NM_001286071;
	NM_014039; NM_001351985; NM_001351986; NM_001351988; NM_001351989; NM_001351990; NM_001351991; NM_001351992; NM_001351993; NM_001351987; NM_001369406
	NM_001199484; NM_001199485; NM_133732; NM_001359258
NP_001272996; NP_001272997; NP_001272998; NP_001272999; NP_001273000;
	NP_054758; NP_001338914; NP_001338915; NP_001338916; NP_001338917; NP_001338918; NP_001338919; NP_001338920; NP_001338921; NP_001338922; NP_001356335
	NP_001186413; NP_001186414; NP_598493; NP_001346187
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Otvoreni okvir čitanja 54 hromosoma 11 (C11orf54) je protein koji je kod ljudi kodiran genom C11orf54.^[5] Ljudski gen C11orf54. poznat je i kao PTD012 i PTOD12. C11orf54 eksprimira hidrolaznu aktivnost na p-nitrofenil acetatu i djeluje na esterske veze, iako sveukupna funkcija u naučnoj zajednici još uvijek nije u potpunosti shvaćena. Protein je visoko konzerviran, a najudaljeniji homolog nalazi se u bakterijama.^[6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 315 aminokiselina, a molekulska težina 35.117 Da.^[7]

10	20	30	40	50
MACAEFSFHV	PSLEELAGVM	QKGLKDNFAD	VQVSVVDCPD	LTKEPFTFPV
KGICGKTRIA	EVGGVPYLLP	LVNQKKVYDL	NKIAKEIKLP	GAFILGAGAG
PFQTLGFNSE	FMPVIQTESE	HKPPVNGSYF	AHVNPADGGC	LLEKYSEKCH
DFQCALLANL	FASEGQPGKV	IEVKAKRRTG	PLNFVTCMRE	TLEKHYGNKP
IGMGGTFIIQ	KGKVKSHIMP	AEFSSCPLNS	DEEVNKWLHF	YEMKAPLVCL
PVFVSRDPGF	DLRLEHTHFF	SRHGEGGHYH	YDTTPDIVEY	LGYFLPAEFL
YRIDQPKETH	SIGRD

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

C11orf54 se nalazi na hromosomu 11, sekvenca 11q21. Uobičajeni alijasi gena su PTD012 i PT0D12. Sastoji od 13 egzona i obuhvata 23730 bp. C11orf54 okružen je genima TAF1D i MED17.^[6]

Gensko susjedstvo C11orf54

iRNK

Proteinska ester-hidrolaza c11orf54 postoji kao monomer i sastoji se od 315 aminokiselina. Postoji šest izoformi C11orf54 (tabela 1).^[6]

Tablala 1: Izoforme C11orf54

Varijanta	Izoforma	Dužina (bp)	Pristupni broj
1	Izoforma a ester-hidrolaze C11orf54	2726	NM_001286067.1
2	Izoforma a ester-hidrolaze C11orf54	2589	NM_001286068.1
3	Izoforma a ester-hidrolaze C11orf54	2594	NM_001286069.1
4	Izoforma b ester-hidrolaze C11orf54	2444	NM_014039.3
5	Izoforma c ester-hidrolaze C11orf54	2442	NM_001286070.1
6	Izoforma d ester-hidrolaze C11orf54	2417	NM_001286071.1

^[6]

Aminokiselinska sekvenca sadrži domen nepoznate funkcije 1907. U ovom transkriptu nalazi se motiv HxHxxxxxxxxxH koji koordinira cinkov ion uključen u hidrolaznu aktivnost.^[8] Motiv LR gnijezda nalazi se na lys262 i arg263. Motiv gnijezda LR tvori vodikove veze između NH grupa i aniona; acetatni anion koordiniran je sa LR gnijezdom.^[9]

Protein

Primarna sekvenca

Tabela 2: Različite karakteristike proteinske sekvence kod ljudi i drugih ortologa^[10]

Organizam	Molekulska težina (kD)	Izoelektrična tačka	Aminokiseline visoke pristrasnosti	Ponavljanja
Čovjek	35,1	5,9	F	AEFS
Miš	35,0	5,9	H	Nema
Trinaestoprugasta prizemna vjeverica	35,1	6,0	F,H	PAEF
Gigantska panda	35,2	6,5	F	PAEF

Sekundarna struktura

Protein C11orf54 postoji kao monomer u otopini. Protein poprima globularni oblik od 20 beta niti i četiri alfa-heliks, koji sadrže po devet antiparalelnih beta-lanaca koji tvore područje beta-lista. Regija β-heliksa C11orf54 strukturno liči na domen vezanja cikličnog adenozina 3′, 5′-monofosfata (cAMP) regulatorne podjedinice protein-kinaze A. Ion cinka vezan je za motiv HxHxxxxxxxxxH koji se nalazi u sekvenci.^[8]

Subćelijska lokalizacija

Predviđa se da je C11orf54 lokaliziran 60,9% u citoplazmi, 21,7% u jedru, 13,0% mitohondrijama i 4,3% u Golgijevom aparatu.^[11]

Ekspresija i posttranslacijske modifikacije

Posttranskripcijska modifikacija proteina C11orf54^[12]^[13]

Protein je visoko eksprimiran u bubrezima, a umjereno u nadbubrežnim žlijezdama, debelom crijevu, jetri, sjemenicima i štitnoj žlijezdi.^[14]

Homologija

Paralozi

Nema paraloga za C11orf54.^[5]

Ortolozi

Protein ester-hidrolaza C11orf54 ima mnogo ortologa (vidi tabelu.) Vrlo je konzerviran (60-100% identiteta) kod sisara, gmizavaca, ptica i riba. Protein je umjereno konzerviran (30-59,99% identiteta) u beskičmenjaka, vodozemaca, knidarija, mehkušaca, gljiva i bakterija. Nije konzervijan u arhejama.^[10] Najudaljenij ortolozi su kod bakterija. Na slici prikazano je neukorijenjeno filogenetsko stablo ortologa of C11orf54.^[5]

Vrsta	Uobičajeno ime	Razred	Pristupni broj	Identitet (%)	Datiranje divergencije (milioni godina)
Microtus ochrogaster	Prerijska voluharica	Mammalia	XP_005346877.1	87,0	88
Chelonia mydas	Zelena morska kornjača	Reptilia	XP_007069537.1	72,8	320
Xenopus tropicalis	Zapadna kandžasta žaba	Reptilia	XP_007434894.1	70,9	320
Python bivittatus	Burmanski piton	Reptilia	NP_001264206.1	73,4	320
Gallus gallus	Obična kokoš	Aves	XP_009564677.1	72,5	320
Cuculus canorus	Južna platiriba	Actinopterygii	XP_005800827.1	65,2	432
Xiphophorus maculatus	Žirasta glista	Enteropneusta	NP_997781.1	62,4	432
Danio rerio	Zebrica	Actinopterygii	XP_002738479.1	55,6	627
Saccoglossus kowalevskii	Poluhordat	Hemichordata	XP_013785734.1	56,6	758
Limulus polyphemus	Atlantski kopitasti rak	Merostomata	XP_012812415.1	55,1	353
Crassostrea gigas	Pacifička ostriga	Bivalvia	XP_011412414.1	50,0	758
Tribolium castaneum	Crvena brašnena buba	Insecta	XP_968861.1	49.0	758
Drosophila bipectinata	Vinska mušica	Insecta	XP_017103988.1	46.0	758
Megachile rotundata	Alfalfa listosjekačka pčela	Insecta	XP_003702672.1	44,8	758
Zymoseptoria brevis	Gljiva	Dothideomycetes	KJX93246.1	36,5	1150
Cladophialophora carrionii	Gljiva	Dothideomycetes	OCT48531.1	35,8	1150
Alternaria alternata	Gljiva	Dothideomycetes	XP_018384285.1	36,2	1150
Candidatus Pelagibacter ubique	Bakterija	Bacteria	WP_075504325.1	34,5	4090
Pelagibacteraceae bacterium	Bakterija	Bacteria	OCW82973.1	34,1	4090

Funkcija

Koordinacija C11orf54 sa ionom cinka preko tri histidina i acetatni anion vjerovatno ukazuju na funkciju proteinske enzimske reakcije kao ester-hidrolaze. Protein ima veliki broj fluktuacija kada reagira s p-nitrofenil acetatom (0,042 sec − 1) u usporedbi s brzinom fluktuacije od 1 sec − 1 koja se nalazi u drugom enzimu (goveđa karboanhidraza II), koji reagira s p -nitrofenil acetatom.^[8]

Interaktivni proteini

Naziv	Skraćenica
Ubikvitin C	UBC
Kolagen, tip IV, alfa 3	COL4A3
Interaktor 13 receptora tireoidnog hormona	TRIP13
DEAD (Asp-Glu-Ala-Asp)-boksni polipeptidoliki 60	DDX60L
Glutamin-fruktoza-6-fosfat transaminaza 2	GFPT2
2-lika superubijska viralicidna aktivnost (S. cerevisiae)	SKIV2L
Ubikvitin-aldehid vezujući domen OTU 1	OTUB1

^[15]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000182919 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000031938 - 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.
^ ^a ^b ^c "Entrez Gene: C11orf54 chromosome 11 open reading frame 54".
^ ^a ^b ^c ^d "C11orf54". NCBI Gene. NCBI (National Center for Biotechnology Information).
^ "UniProt, Q9H0W9". Pristupljeno 18. 8. 2021.
^ ^a ^b ^c Manjasetty BA, Büssow K, Fieber-Erdmann M, Roske Y, Gobom J, Scheich C, Götz F, Niesen FH, Heinemann U (april 2006). "Crystal structure of Homo sapiens PTD012 reveals a zinc-containing hydrolase fold". Protein Science. 15 (4): 914–20. doi:10.1110/ps.052037006. PMC 2242484. PMID 16522806.
^ Langton MJ, Serpell CJ, Beer PD (2016). "Anion Recognition in Water: Recent Advances from a Supramolecular and Macromolecular Perspective". Angewandte Chemie International Edition. 55 (6): 1974–87. doi:10.1002/anie.201506589. PMC 4755225. PMID 26612067.
^ ^a ^b Subramaniam S (1998). "The Biology Workbench--a seamless database and analysis environment for the biologist". Proteins. 32 (1): 1–2. doi:10.1002/(SICI)1097-0134(19980701)32:1<1::AID-PROT1>3.0.CO;2-Q. PMID 9672036.
^ Briesemeister S, Rahnenführer J, Kohlbacher O (2010). "Going from where to why–interpretable prediction of protein subcellular localization". Bioinformatics. 26 (9): 1232–8. doi:10.1093/bioinformatics/btq115. PMC 2859129. PMID 20299325.
^ Blom N, Gammeltoft S, Brunak S (1999). "Sequence and structure-based prediction of eukaryotic protein phosphorylation sites". Journal of Molecular Biology. 294 (5): 1351–62. doi:10.1006/jmbi.1999.3310. PMID 10600390.
^ Gupta R, Brunak S (2002). "Prediction of glycosylation across the human proteome and the correlation to protein function". Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing: 310–22. doi:10.1142/9789812799623_0029. ISBN 978-981-02-4777-5. PMID 11928486.
^ Uhlén M, Fagerberg L, Hallström BM, Lindskog C, Oksvold P, Mardinoglu A, et al. (januar 2015). "Proteomics. Tissue-based map of the human proteome". Science. 347 (6220): 1260419. doi:10.1126/science.1260419. PMID 25613900. S2CID 802377.
^ Franceschini A, Szklarczyk D, Frankild S, Kuhn M, Simonovic M, Roth A, Lin J, Minguez P, Bork P, von Mering C, Jensen LJ (2013). "STRING v9.1: protein-protein interaction networks, with increased coverage and integration". Nucleic Acids Research. 41 (Database issue): D808–15. doi:10.1093/nar/gks1094. PMC 3531103. PMID 23203871.

Dopunska literatura

Maruyama K, Sugano S (januar 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.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (oktobar 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.
Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (mart 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S (septembar 2000). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Reports. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
Wan D, Gong Y, Qin W, Zhang P, Li J, Wei L, Zhou X, Li H, Qiu X, Zhong F, He L, Yu J, Yao G, Jiang H, Qian L, Yu Y, Shu H, Chen X, Xu H, Guo M, Pan Z, Chen Y, Ge C, Yang S, Gu J (novembar 2004). "Large-scale cDNA transfection screening for genes related to cancer development and progression". Proceedings of the National Academy of Sciences of the United States of America. 101 (44): 15724–9. Bibcode:2004PNAS..10115724W. doi:10.1073/pnas.0404089101. PMC 524842. PMID 15498874.
Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (oktobar 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.

Vanjski linkovi

Lokacija ljudskog genoma C11orf54 i stranica sa detaljima o genu C11orf54 u UCSC Genome Browseru.
Q9H0W9

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000182919 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000031938 - 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: C11orf54 chromosome 11 open reading frame 54".

[NCBI_C11orf54-6] "C11orf54". NCBI Gene. NCBI (National Center for Biotechnology Information).

[UniProt-7] "UniProt, Q9H0W9". Pristupljeno 18. 8. 2021.

[Manjasetty_2006-8] Manjasetty BA, Büssow K, Fieber-Erdmann M, Roske Y, Gobom J, Scheich C, Götz F, Niesen FH, Heinemann U (april 2006). "Crystal structure of Homo sapiens PTD012 reveals a zinc-containing hydrolase fold". Protein Science. 15 (4): 914–20. doi:10.1110/ps.052037006. PMC 2242484. PMID 16522806.

[Langton_2016-9] Langton MJ, Serpell CJ, Beer PD (2016). "Anion Recognition in Water: Recent Advances from a Supramolecular and Macromolecular Perspective". Angewandte Chemie International Edition. 55 (6): 1974–87. doi:10.1002/anie.201506589. PMC 4755225. PMID 26612067.

[Subramaniam_1998-10] Subramaniam S (1998). "The Biology Workbench--a seamless database and analysis environment for the biologist". Proteins. 32 (1): 1–2. doi:10.1002/(SICI)1097-0134(19980701)32:1<1::AID-PROT1>3.0.CO;2-Q. PMID 9672036.

[pmid20299325-11] Briesemeister S, Rahnenführer J, Kohlbacher O (2010). "Going from where to why–interpretable prediction of protein subcellular localization". Bioinformatics. 26 (9): 1232–8. doi:10.1093/bioinformatics/btq115. PMC 2859129. PMID 20299325.

[Blom_1999-12] Blom N, Gammeltoft S, Brunak S (1999). "Sequence and structure-based prediction of eukaryotic protein phosphorylation sites". Journal of Molecular Biology. 294 (5): 1351–62. doi:10.1006/jmbi.1999.3310. PMID 10600390.

[Gupta_2002-13] Gupta R, Brunak S (2002). "Prediction of glycosylation across the human proteome and the correlation to protein function". Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing: 310–22. doi:10.1142/9789812799623_0029. ISBN 978-981-02-4777-5. PMID 11928486.

[14] Uhlén M, Fagerberg L, Hallström BM, Lindskog C, Oksvold P, Mardinoglu A, et al. (januar 2015). "Proteomics. Tissue-based map of the human proteome". Science. 347 (6220): 1260419. doi:10.1126/science.1260419. PMID 25613900. S2CID 802377.

[pmid23203871-15] Franceschini A, Szklarczyk D, Frankild S, Kuhn M, Simonovic M, Roth A, Lin J, Minguez P, Bork P, von Mering C, Jensen LJ (2013). "STRING v9.1: protein-protein interaction networks, with increased coverage and integration". Nucleic Acids Research. 41 (Database issue): D808–15. doi:10.1093/nar/gks1094. PMC 3531103. PMID 23203871.

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