EZHIP

EZHIP
Identifikatori
Aliasi	EZHIP
Vanjski ID-jevi	GeneCards: EZHIP
Lokacija gena (čovjek)
Hrom.	Hromosom X
Kraj	51,408,843 bp
Ortolozi
	340602
	n/a
	ENSG00000187690
	n/a
	Q86X51
	n/a
	NM_203407
	n/a
	NP_981952
	n/a
	Wikipodaci
Pogledaj/uredi – čovjek

Neokarakterizirani protein CXorf67 je protein koji je kod ljudi kodiran genom CXorf67. Pristupni broj za ljudski gen je NM_203407.^[3] Dvojnici uključuju MGC47837 i LOC340602.^[4]

Gen se nalazi na pozitivnom lancu X hromosoma na poziciji Xp11.22. Njegova iRNK duga je 1939 parova baza i sadrži jedan egzon, a nema introna.^[5]

Ekspresija

Ekspresija CXorf67 tokom ljudskog preimplantacijskog embrionskog razvoja

Ekspresija CXorf67 kod ljudi je općenito niska u svim tkivima. Zabilježena je veća ekspresija RNK u testisima i posteljici, a relativno veća ekspresija jedarnih proteina zabilježena je u placenti, testisima i jajničkim folikulima.^[6]

Protein

Prevedeni ljudskii CXorf67 protein dugačak je 503 aminokiseline.|^[5] Ima molekulsku težinu od 51,9 kdal i izoelektričnu tačku od 10,432^[7]

Interakcije

Interakcija proteina CXorf67 sa UBC (poliubikvitin-C) kod ljudi identificirana je pomoću dvohibridnog skrininga.^[8] Do sada nisu identifikovane druge interakcije proteina kod ljudi.

Funkcija

Funkcija CXorf67 još uvijek je nepoznata,ali fuzija CXorf67 sa genom MBTD1 povezana je sa stromnim sarkomom endometrija niskog stepena kod ljudi.^[9] Varijante sekvence hromosomske regije Xp11.22 se također predviđaju kako ljudima stvaraju podložnost za rak prostate.^[10]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000187690 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "CXorf67 chromosome X open reading frame 67 [ Homo sapiens (human) ]". NCBI-National Center for Biotechnology Information.
^ "Chromosome X Open Reading Frame 67". GeneCards-The Human Gene Compendium.
^ ^a ^b "Homo sapiens gene CXorf67, encoding chromosome X open reading frame 67". NCBI-AceView.
^ "CXorf67". The Human Protein Atlas.
^ "Biology Workbench". SDSC Biology Workbench. Board of Trustees of the University of Illinois. Arhivirano s originala, 11. 8. 2003. Pristupljeno 3. 4. 2021.
^ Danielsen JM, Sylvestersen KB, Bekker-Jensen S, Szklarczyk D, Poulsen JW, Horn H, Jensen LJ, Mailand N, Nielsen ML (Mar 2011). "Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level". Molecular & Cellular Proteomics. 10 (3): M110.003590. doi:10.1074/mcp.M110.003590. PMC 3047152. PMID 21139048.
^ Dewaele B, Przybyl J, Quattrone A, Finalet Ferreiro J, Vanspauwen V, Geerdens E, Gianfelici V, Kalender Z, Wozniak A, Moerman P, Sciot R, Croce S, Amant F, Vandenberghe P, Cools J, Debiec-Rychter M (Mar 2014). "Identification of a novel, recurrent MBTD1-CXorf67 fusion in low-grade endometrial stromal sarcoma". International Journal of Cancer. 134 (5): 1112–1122. doi:10.1002/ijc.28440. PMID 23959973.
^ Gudmundsson J, Sulem P, Rafnar T, Bergthorsson JT, Manolescu A, Gudbjartsson D, Agnarsson BA, Sigurdsson A, Benediktsdottir KR, Blondal T, Jakobsdottir M, Stacey SN, Kostic J, Kristinsson KT, Birgisdottir B, Ghosh S, Magnusdottir DN, Thorlacius S, Thorleifsson G, Zheng SL, Sun J, Chang BL, Elmore JB, Breyer JP, McReynolds KM, Bradley KM, Yaspan BL, Wiklund F, Stattin P, Lindström S, Adami HO, McDonnell SK, Schaid DJ, Cunningham JM, Wang L, Cerhan JR, St Sauver JL, Isaacs SD, Wiley KE, Partin AW, Walsh PC, Polo S, Ruiz-Echarri M, Navarrete S, Fuertes F, Saez B, Godino J, Weijerman PC, Swinkels DW, Aben KK, Witjes JA, Suarez BK, Helfand BT, Frigge ML, Kristjansson K, Ober C, Jonsson E, Einarsson GV, Xu J, Gronberg H, Smith JR, Thibodeau SN, Isaacs WB, Catalona WJ, Mayordomo JI, Kiemeney LA, Barkardottir RB, Gulcher JR, Thorsteinsdottir U, Kong A, Stefansson K (Mar 2008). "Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer". Nature Genetics. 40 (3): 281–283. doi:10.1038/ng.89. PMC 3598012. PMID 18264098.

Vanjski linkovi

Lokacija ljudskog genoma CXorf67 i stranica sa detaljima o genu CXorf67 u UCSC Genome Browseru.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000187690 - Ensembl, maj 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[NCBI_Gene-3] "CXorf67 chromosome X open reading frame 67 [ Homo sapiens (human) ]". NCBI-National Center for Biotechnology Information.

[GeneCards-4] "Chromosome X Open Reading Frame 67". GeneCards-The Human Gene Compendium.

[AceView-5] "Homo sapiens gene CXorf67, encoding chromosome X open reading frame 67". NCBI-AceView.

[6] "CXorf67". The Human Protein Atlas.

[7] "Biology Workbench". SDSC Biology Workbench. Board of Trustees of the University of Illinois. Arhivirano s originala, 11. 8. 2003. Pristupljeno 3. 4. 2021.

[8] Danielsen JM, Sylvestersen KB, Bekker-Jensen S, Szklarczyk D, Poulsen JW, Horn H, Jensen LJ, Mailand N, Nielsen ML (Mar 2011). "Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level". Molecular & Cellular Proteomics. 10 (3): M110.003590. doi:10.1074/mcp.M110.003590. PMC 3047152. PMID 21139048.

[9] Dewaele B, Przybyl J, Quattrone A, Finalet Ferreiro J, Vanspauwen V, Geerdens E, Gianfelici V, Kalender Z, Wozniak A, Moerman P, Sciot R, Croce S, Amant F, Vandenberghe P, Cools J, Debiec-Rychter M (Mar 2014). "Identification of a novel, recurrent MBTD1-CXorf67 fusion in low-grade endometrial stromal sarcoma". International Journal of Cancer. 134 (5): 1112–1122. doi:10.1002/ijc.28440. PMID 23959973.

[10] Gudmundsson J, Sulem P, Rafnar T, Bergthorsson JT, Manolescu A, Gudbjartsson D, Agnarsson BA, Sigurdsson A, Benediktsdottir KR, Blondal T, Jakobsdottir M, Stacey SN, Kostic J, Kristinsson KT, Birgisdottir B, Ghosh S, Magnusdottir DN, Thorlacius S, Thorleifsson G, Zheng SL, Sun J, Chang BL, Elmore JB, Breyer JP, McReynolds KM, Bradley KM, Yaspan BL, Wiklund F, Stattin P, Lindström S, Adami HO, McDonnell SK, Schaid DJ, Cunningham JM, Wang L, Cerhan JR, St Sauver JL, Isaacs SD, Wiley KE, Partin AW, Walsh PC, Polo S, Ruiz-Echarri M, Navarrete S, Fuertes F, Saez B, Godino J, Weijerman PC, Swinkels DW, Aben KK, Witjes JA, Suarez BK, Helfand BT, Frigge ML, Kristjansson K, Ober C, Jonsson E, Einarsson GV, Xu J, Gronberg H, Smith JR, Thibodeau SN, Isaacs WB, Catalona WJ, Mayordomo JI, Kiemeney LA, Barkardottir RB, Gulcher JR, Thorsteinsdottir U, Kong A, Stefansson K (Mar 2008). "Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer". Nature Genetics. 40 (3): 281–283. doi:10.1038/ng.89. PMC 3598012. PMID 18264098.

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