ERG28

ERG28
Identifikatori
Aliasi	ERG28
Vanjski ID-jevi	OMIM: 604576 MGI: 1915571 HomoloGene: 38284 GeneCards: ERG28
Lokacija gena (čovjek) Hrom. Hromosom 14 (čovjek)[1] Bend 14q24.3 Početak 75,649,791 bp[1] Kraj 75,660,876 bp[1]
Lokacija gena (miš) Hrom. Hromosom 12 (miš)[2] Bend 12|12 D2 Početak 85,862,222 bp[2] Kraj 85,871,324 bp[2]
Obrazac RNK ekspresije Više referentnih podataka o ekspresiji
Ontologija gena Molekularna funkcija • protein-macromolecule adaptor activity • molekularna funkcija Ćelijska komponenta • integral component of membrane • transport vesicle • Endoplazmatski retikulum • membrana • endoplasmic reticulum membrane Biološki proces • steroid metabolic process • sterol biosynthetic process • lipid metabolism • steroid biosynthetic process • ergosterol biosynthetic process • GO:0022610 biološki proces Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	11161	58520
Ensembl	ENSG00000133935	ENSMUSG00000021252
UniProt	Q9UKR5	Q9ERY9
RefSeq (mRNK)	NM_007176	NM_021446 NM_001360451 NM_001360813
RefSeq (bjelančevina)	NP_009107	NP_067421 NP_001347380 NP_001347742
Lokacija (UCSC)	Chr 14: 75.65 – 75.66 Mb	Chr 12: 85.86 – 85.87 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Ergosterolski biosintetski protein 28 je protein koji je kod ljudi kodiran genom ERG28.^[5][6][7][8]

Radijacijskom analizom hibrida, Veitia et al. (1999) locirali su gen C14ORF1 na hromosomu 14, sekvenca q24, regiji koja je uključena u karcinome bubrežnih i debelocrijevnih ćelija kao i neuroblastoma.^[9]

Kloniranje i ekspresija

Pretragom EST baze podataka i skriningom biblioteke cDNK ljudskih sjemenika, Veitia et al. (1999) dobili su novu cDNK pune dužine, koju su označili kao C14ORF1, sa više potencijalnih startnih tačaka transkripcije. CDNK C14ORF1 kodira osnovni transmembranski protein od približno 157 aminokiselina koji ima 98% identiteta sekvence sa homolognim mišjim proteinom.

Northern blot analiza otkrila je ekspresiju transkripta C14ORF1 od 1,35 kb u svim testiranim tkivima i ćelijskim linijama karcinoma, s najjačom ekspresijom u testisima i nekim ćelijskim linijama. Autori su primijetili da je ekspresija C14ORF1 gotovo neotkrivena u normalnoj sluznici debelog crijeva i leukocitima periferne krvi, ali je bila izrazito ispoljena u kolorektumskom adenokarcinomu i nekoliko ćelijskih linija izvedenih iz leukocita.

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 140 aminokiselina, a molekulska težina 15.864 Da ^[10].

10		20		30		40		50
MSRFLNVLRS		WLVMVSIIAM		GNTLQSFRDH		TFLYEKLYTG		KPNLVNGLQA
RTFGIWTLLS		SVIRCLCAID		IHNKTLYHIT		LWTFLLALGH		FLSELFVYGT
AAPTIGVLAP		LMVASFSILG		MLVGLRYLEV		EPVSRQKKRN

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

Reference

1. GRCh38: Ensembl release 89: ENSG00000133935 - Ensembl, maj 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000021252 - 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. Veitia RA, Ottolenghi C, Bissery MC, Fellous A (Oct 1999). "A novel human gene, encoding a potential membrane protein conserved from yeast to man, is strongly expressed in testis and cancer cell lines". Cytogenetics and Cell Genetics. 85 (3–4): 217–20. doi:10.1159/000015296. PMID 10449901.
6. Schirmer EC, Florens L, Guan T, Yates JR, Gerace L (Sep 2003). "Nuclear membrane proteins with potential disease links found by subtractive proteomics". Science. 301 (5638): 1380–2. doi:10.1126/science.1088176. PMID 12958361.
7. Gachotte D, Eckstein J, Barbuch R, Hughes T, Roberts C, Bard M (Jan 2001). "A novel gene conserved from yeast to humans is involved in sterol biosynthesis". Journal of Lipid Research. 42 (1): 150–4. PMID 11160377.
8. "Entrez Gene: C14orf1 chromosome 14 open reading frame 1".
9. Veitia, R. A., Ottolenghi, C., Bissery, M.-C., Fellous, A. A novel human gene, encoding a potential membrane protein conserved from yeast to man, is strongly expressed in testis and cancer cell lines. Cytogenet. Cell Genet. 85: 217-220, 1999. PubMed: 10449901
10. "UniProt, Q9UKR5". Pristupljeno 24. 7. 2021.

Dopunska literatura

• Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, Bechtel S, Simpson J, Hofmann O, Hide W, Glatting KH, Huber W, Pepperkok R, Poustka A, Wiemann S (Jan 2006). "The LIFEdb database in 2006". Nucleic Acids Research. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.
• Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksöz E, Droege A, Krobitsch S, Korn B, Birchmeier W, Lehrach H, Wanker EE (Sep 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.
• Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A (Oct 2004). "From ORFeome to biology: a functional genomics pipeline". Genome Research. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
• Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S (Sep 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.
• 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 (Mar 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.
• Hartley JL, Temple GF, Brasch MA (Nov 2000). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
• Zhang QH, Ye M, Wu XY, Ren SX, Zhao M, Zhao CJ, Fu G, Shen Y, Fan HY, Lu G, Zhong M, Xu XR, Han ZG, Zhang JW, Tao J, Huang QH, Zhou J, Hu GX, Gu J, Chen SJ, Chen Z (Oct 2000). "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells". Genome Research. 10 (10): 1546–60. doi:10.1101/gr.140200. PMC 310934. PMID 11042152.
• Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH, Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM, Huang GY, Chen Z, Chen MD, Chen JL (Aug 2000). "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning". Proceedings of the National Academy of Sciences of the United States of America. 97 (17): 9543–8. doi:10.1073/pnas.160270997. PMC 16901. PMID 10931946.

Vanjski linkovi

• Lokacija ljudskog genoma C14orf1 i stranica sa detaljima o genu C14orf1 u UCSC Genome Browseru.