RHBDF2

Član 2 porodice romboidnih proteina je protein koji je kod ljudi kodiran genom RHBDF2.^[5][6] Predložen je alternativni naziv iRhom2, kako bi se razjasnilo da je katalitski neaktivan član porodice romboidnih intramembranskih serin-proteaza.^[7][8]

RHBDF2
Identifikatori
Aliasi	RHBDF2
Vanjski ID-jevi	OMIM: 614404 MGI: 2442473 HomoloGene: 11612 GeneCards: RHBDF2
Lokacija gena (čovjek) Hrom. Hromosom 17 (čovjek)[1] Bend 17q25.1 Početak 76,470,891 bp[1] Kraj 76,501,790 bp[1]
Lokacija gena (miš) Hrom. Hromosom 11 (miš)[2] Bend 11|11 E2 Početak 116,488,991 bp[2] Kraj 116,517,845 bp[2]
Obrazac RNK ekspresije Više referentnih podataka o ekspresiji
Ontologija gena Molekularna funkcija • serine-type endopeptidase activity • growth factor binding • GO:0001948, GO:0016582 vezivanje za proteine • GO:0070122 peptidase activity • hydrolase activity Ćelijska komponenta • integral component of membrane • Endoplazmatski retikulum • membrana • ćelijska membrana • endoplasmic reticulum membrane Biološki proces • protein transport • protein processing • regulation of epidermal growth factor receptor signaling pathway • Proteoliza • regulation of protein secretion • negative regulation of protein secretion Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	79651	217344
Ensembl	ENSG00000129667	ENSMUSG00000020806
UniProt	Q6PJF5	Q80WQ6
RefSeq (mRNK)	NM_001005498 NM_024599 NM_001376228 NM_001376229 NM_001376230	NM_001167680 NM_172572
RefSeq (bjelančevina)	NP_001005498 NP_078875 NP_001363157 NP_001363158 NP_001363159	NP_001161152 NP_766160 NP_001390556 NP_001390557
Lokacija (UCSC)	Chr 17: 76.47 – 76.5 Mb	Chr 11: 116.49 – 116.52 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Gen RHBDF2 nalazi se na dugom kraku hromosoma 17 (17q25.1) na Crick (minus) lancu. Dug je 30.534 kilobaza i kodira protein od 856 aminokiselina s predviđenom molekulskom težinom od 96.686 kD.

Protein RHBDF2 ima važnu ulogu u lučenju faktora nekroze tumora alfa,^[9][10][11] and has also been implicated in familial esophageal cancer.^[12]

Uključen je u regulaciju sekrecije nekoliko liganada receptora epidermnog faktora rasta.^[13]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 856 aminokiselina, a molekulska težina 96.686 Da.^[14]

10		20		30		40		50
MASADKNGGS		VSSVSSSRLQ		SRKPPNLSIT		IPPPEKETQA		PGEQDSMLPE
GFQNRRLKKS		QPRTWAAHTT		ACPPSFLPKR		KNPAYLKSVS		LQEPRSRWQE
SSEKRPGFRR		QASLSQSIRK		GAAQWFGVSG		DWEGQRQQWQ		RRSLHHCSMR
YGRLKASCQR		DLELPSQEAP		SFQGTESPKP		CKMPKIVDPL		ARGRAFRHPE
EMDRPHAPHP		PLTPGVLSLT		SFTSVRSGYS		HLPRRKRMSV		AHMSLQAAAA
LLKGRSVLDA		TGQRCRVVKR		SFAFPSFLEE		DVVDGADTFD		SSFFSKEEMS
SMPDDVFESP		PLSASYFRGI		PHSASPVSPD		GVQIPLKEYG		RAPVPGPRRG
KRIASKVKHF		AFDRKKRHYG		LGVVGNWLNR		SYRRSISSTV		QRQLESFDSH
RPYFTYWLTF		VHVIITLLVI		CTYGIAPVGF		AQHVTTQLVL		RNKGVYESVK
YIQQENFWVG		PSSIDLIHLG		AKFSPCIRKD		GQIEQLVLRE		RDLERDSGCC
VQNDHSGCIQ		TQRKDCSETL		ATFVKWQDDT		GPPMDKSDLG		QKRTSGAVCH
QDPRTCEEPA		SSGAHIWPDD		ITKWPICTEQ		ARSNHTGFLH		MDCEIKGRPC
CIGTKGSCEI		TTREYCEFMH		GYFHEEATLC		SQVHCLDKVC		GLLPFLNPEV
PDQFYRLWLS		LFLHAGVVHC		LVSVVFQMTI		LRDLEKLAGW		HRIAIIFILS
GITGNLASAI		FLPYRAEVGP		AGSQFGLLAC		LFVELFQSWP		LLERPWKAFL
NLSAIVLFLF		ICGLLPWIDN		IAHIFGFLSG		LLLAFAFLPY		ITFGTSDKYR
KRALILVSLL		AFAGLFAALV		LWLYIYPINW		PWIEHLTCFP		FTSRFCEKYE
LDQVLH

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: ENSG00000129667 - Ensembl, maj 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000020806 - 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. Puente XS, Sánchez LM, Overall CM, López-Otín C (Jul 2003). "Human and mouse proteases: a comparative genomic approach". Nature Reviews Genetics. 4 (7): 544–58. doi:10.1038/nrg1111. PMID 12838346. S2CID 2856065.
6. "Entrez Gene: RHBDF2 rhomboid 5 homolog 2 (Drosophila)".
7. Lemberg MK, Freeman M (Nov 2007). "Functional and evolutionary implications of enhanced genomic analysis of rhomboid intramembrane proteases". Genome Research. 17 (11): 1634–46. doi:10.1101/gr.6425307. PMC 2045146. PMID 17938163.
8. Zettl M, Adrain C, Strisovsky K, Lastun V, Freeman M (Apr 2011). "Rhomboid family pseudoproteases use the ER quality control machinery to regulate intercellular signaling". Cell. 145 (1): 79–91. doi:10.1016/j.cell.2011.02.047. PMC 3149277. PMID 21439629.
9. Siggs OM, Xiao N, Wang Y, Shi H, Tomisato W, Li X, Xia Y, Beutler B (Jun 2012). "iRhom2 is required for the secretion of mouse TNFα". Blood. 119 (24): 5769–71. doi:10.1182/blood-2012-03-417949. PMC 3382936. PMID 22550345.
10. Adrain C, Zettl M, Christova Y, Taylor N, Freeman M (Jan 2012). "Tumor necrosis factor signaling requires iRhom2 to promote trafficking and activation of TACE". Science. 335 (6065): 225–8. doi:10.1126/science.1214400. PMC 3272371. PMID 22246777.
11. McIlwain DR, Lang PA, Maretzky T, Hamada K, Ohishi K, Maney SK, Berger T, Murthy A, Duncan G, Xu HC, Lang KS, Häussinger D, Wakeham A, Itie-Youten A, Khokha R, Ohashi PS, Blobel CP, Mak TW (Jan 2012). "iRhom2 regulation of TACE controls TNF-mediated protection against Listeria and responses to LPS". Science. 335 (6065): 229–32. doi:10.1126/science.1214448. PMC 4250273. PMID 22246778.
12. Blaydon DC, Etheridge SL, Risk JM, Hennies HC, Gay LJ, Carroll R, Plagnol V, McRonald FE, Stevens HP, Spurr NK, Bishop DT, Ellis A, Jankowski J, Field JK, Leigh IM, South AP, Kelsell DP (Feb 2012). "RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome". American Journal of Human Genetics. 90 (2): 340–6. doi:10.1016/j.ajhg.2011.12.008. PMC 3276661. PMID 22265016.
13. Siggs OM, Grieve A, Xu H, Bambrough P, Christova Y, Freeman M (novembar 2014). "Genetic interaction implicates iRhom2 in the regulation of EGF receptor signalling in mice". Biol Open. 3 (12): 1151–7. doi:10.1242/bio.201410116. PMC 4265752. PMID 25395669.
14. "UniProt, Q6PJF5". Pristupljeno 25. 6. 2021.

Dopunska literatura

• Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J, Mizushima-Sugano J, Nakai K, Sugano S (Sep 2004). "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions". Genome Research. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMC 515316. PMID 15342556.
• Puente XS, López-Otín C (Apr 2004). "A genomic analysis of rat proteases and protease inhibitors". Genome Research. 14 (4): 609–22. doi:10.1101/gr.1946304. PMC 383305. PMID 15060002.
• Dias Neto E, Correa RG, Verjovski-Almeida S, Briones MR, Nagai MA, da Silva W, Zago MA, Bordin S, Costa FF, Goldman GH, Carvalho AF, Matsukuma A, Baia GS, Simpson DH, Brunstein A, de Oliveira PS, Bucher P, Jongeneel CV, O'Hare MJ, Soares F, Brentani RR, Reis LF, de Souza SJ, Simpson AJ (Mar 2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proceedings of the National Academy of Sciences of the United States of America. 97 (7): 3491–6. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 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 (Jan 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.