RIPOR2

RIPOR2
Identifikatori
Aliasi	RIPOR2
Vanjski ID-jevi	OMIM: 611410 MGI: 2444879 HomoloGene: 9284 GeneCards: RIPOR2
Lokacija gena (čovjek)
Hrom.	Hromosom 6 (čovjek)
Kraj	25,042,170 bp
Lokacija gena (miš)
Hrom.	Hromosom 13 (miš)
Kraj	24,917,799 bp
Ontologija gena
Molekularna funkcija	• GO:0001948, GO:0016582 vezivanje za proteine; • 14-3-3 protein binding; • vezivanje identičnih proteina;
Ćelijska komponenta	• ćelijska membrana; • projekcija ćelije; • membrana; • citoplazma; • apical plasma membrane; • citoskelet; • Filopodija; • stereocilium; • stereocilium membrane;
Biološki proces	• multicellular organism development; • Ćelijska diferencijacija; • muscle organ development; • sluh; • skeletal muscle fiber development; • positive regulation of myoblast differentiation; • positive regulation of myoblast fusion; • negative regulation of establishment of T cell polarity; • negative regulation of T cell migration; • negative regulation of T cell proliferation; • regulation of mitotic spindle assembly; • Hemotaksija; • Ćelijska adhezija; • negative regulation of signal transduction; • negative regulation of cell adhesion; • negative regulation of Rho protein signal transduction; • positive regulation of filopodium assembly; • positive regulation of neutrophil chemotaxis; • negative regulation of protein localization to cell leading edge; • cellular response to chemokine; • regulation of establishment of cell polarity; • positive regulation of neutrophil extravasation; • negative regulation of Rho guanyl-nucleotide exchange factor activity; • establishment of protein localization; • protein homooligomerization; • auditory receptor cell stereocilium organization; • cellular response to mechanical stimulus;
	Izvori:Amigo / QuickGO
Ortolozi
	9750
	193385
	ENSG00000111913
	ENSMUSG00000036006
	Q9Y4F9
	Q80U16
NM_001286445; NM_001286446; NM_001286447; NM_014722; NM_015864;
	NM_001346031; NM_001346032
	NM_001080381; NM_001286100; NM_001286101; NM_029679; NM_178658
NP_001273374; NP_001273375; NP_001273376; NP_001332960; NP_001332961;
	NP_055537; NP_056948
NP_001073850; NP_001273029; NP_001273030; NP_083955; NP_848773;
	NP_001389841; NP_001389842; NP_001389843; NP_001389844; NP_001389845; NP_001389846; NP_001389847; NP_001389848
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Regulator interaktivne ćelijske polarizacije porodice 2RHO jest protein koji je kod ljudi kodiran genom RIPOR2.^[5]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 1.068 aminokiselina, а molekulska težina 118.519 Da.^[6]

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

10	20	30	40	50
MLVGSQSFSP	GGPNGIIRSQ	SFAGFSGLQE	RRSRCNSFIE	NSSALKKPQA
KLKKMHNLGH	KNNNPPKEPQ	PKRVEEVYRA	LKNGLDEYLE	VHQTELDKLT
AQLKDMKRNS	RLGVLYDLDK	QIKTIERYMR	RLEFHISKVD	ELYEAYCIQR
RLQDGASKMK	QAFATSPASK	AARESLTEIN	RSFKEYTENM	CTIEVELENL
LGEFSIKMKG	LAGFARLCPG	DQYEIFMKYG	RQRWKLKGKI	EVNGKQSWDG
EETVFLPLIV	GFISIKVTEL	KGLATHILVG	SVTCETKELF	AARPQVVAVD
INDLGTIKLN	LEITWYPFDV	EDMTASSGAG	NKAAALQRRM	SMYSQGTPET
PTFKDHSFFR	WLHPSPDKPR	RLSVLSALQD	TFFAKLHRSR	SFSDLPSLRP
SPKAVLELYS	NLPDDIFENG	KAAEEKMPLS	LSFSDLPNGD	CALTSHSTGS
PSNSTNPEIT	ITPAEFNLSS	LASQNEGMDD	TSSASSRNSL	GEGQEPKSHL
KEEDPEEPRK	PASAPSEACR	RQSSGAGAEH	LFLENDVAEA	LLQESEEASE
LKPVELDTSE	GNITKQLVKR	LTSAEVPMAT	DRLLSEGSVG	GESEGCRSFL
DGSLEDAFNG	LLLALEPHKE	QYKEFQDLNQ	EVMNLDDILK	CKPAVSRSRS
SSLSLTVESA	LESFDFLNTS	DFDEEEDGDE	VCNVGGGADS	VFSDTETEKH
SYRSVHPEAR	GHLSEALTED	TGVGTSVAGS	PLPLTTGNES	LDITIVRHLQ
YCTQLVQQIV	FSSKTPFVAR	SLLEKLSRQI	QVMEKLAAVS	DENIGNISSV
VEAIPEFHKK	LSLLSFWTKC	CSPVGVYHSP	ADRVMKQLEA	SFARTVNKEY
PGLADPVFRT	LVSQILDRAE	PLLSSSLSSE	VVTVFQYYSY	FTSHGVSDLE
SYLSQLARQV	SMVQTLQSLR	DEKLLQTMSD	LAPSNLLAQQ	EVLRTLALLL
TREDNEVSEA	VTLYLAAASK	NQHFREKALL	YYCEALTKTN	LQLQKAACLA
LKILEATESI	KMLVTLCQSD	TEEIRNVASE	TLLSLGEDGR	LAYEQLDKFP
RDCVKVGGRH	GTEVATAF

Funkcija

Protein kodiran ovim genom stimulira stvaranje nemitotskog multijedarnog sincicija iz proliferativnih citotrofoblasta tokom diferencijacije trofoblasta. Alternativna prerada ovog gena dovodi do više varijanti transkripta (prema RefSeq, nov 2013).

Klinički značaj

Mutacije u RIPOR2 povezane su s gubitkom sluha.^[7]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000111913 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000036006 - 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: Family with sequence similarity 65, member B".
^ "UniProt, Q9Y4F9" (jezik: engleski). Pristupljeno 4. 10. 2021.
^ Diaz-Horta O, Subasioglu-Uzak A, Grati M, DeSmidt A, Foster J, Cao L, Bademci G, Tokgoz-Yilmaz S, Duman D, Cengiz FB, Abad C, Mittal R, Blanton S, Liu XZ, Farooq A, Walz K, Lu Z, Tekin M (juli 2014). "FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing". Proceedings of the National Academy of Sciences of the United States of America. 111 (27): 9864–8. Bibcode:2014PNAS..111.9864D. doi:10.1073/pnas.1401950111. PMC 4103326. PMID 24958875.

Dopunska literatura

Morrish DW, Dakour J, Li H (septembar 2001). "Life and death in the placenta: new peptides and genes regulating human syncytiotrophoblast and extravillous cytotrophoblast lineage formation and renewal". Current Protein & Peptide Science. 2 (3): 245–59. doi:10.2174/1389203013381116. PMID 12369935.
Morrish DW, Dakour J, Li H (august 1998). "Functional regulation of human trophoblast differentiation". Journal of Reproductive Immunology. 39 (1–2): 179–95. doi:10.1016/s0165-0378(98)00021-7. PMID 9786461.
Zhang K, Waxman DJ (decembar 2010). "PC3 prostate tumor-initiating cells with molecular profile FAM65Bhigh/MFI2low/LEF1low increase tumor angiogenesis". Molecular Cancer. 9: 319. doi:10.1186/1476-4598-9-319. PMC 3024252. PMID 21190562.
Dakour J, Li H, Morrish DW (februar 1997). "PL48: a novel gene associated with cytotrophoblast and lineage-specific HL-60 cell differentiation". Gene. 185 (2): 153–7. doi:10.1016/s0378-1119(96)00587-2. PMID 9055809.
Hirayama E, Kim J (mart 2008). "Identification and characterization of a novel neural cell adhesion molecule (NCAM)-associated protein from quail myoblasts: relationship to myotube formation and induction of neurite-like protrusions". Differentiation; Research in Biological Diversity. 76 (3): 253–66. doi:10.1111/j.1432-0436.2007.00215.x. PMID 17825087.
Kang SJ, Rangaswamy M, Manz N, Wang JC, Wetherill L, Hinrichs T, Almasy L, Brooks A, Chorlian DB, Dick D, Hesselbrock V, Kramer J, Kuperman S, Nurnberger J, Rice J, Schuckit M, Tischfield J, Bierut LJ, Edenberg HJ, Goate A, Foroud T, Porjesz B (august 2012). "Family-based genome-wide association study of frontal θ oscillations identifies potassium channel gene KCNJ6". Genes, Brain, and Behavior. 11 (6): 712–9. doi:10.1111/j.1601-183X.2012.00803.x. PMC 3666338. PMID 22554406.
Yoon S, Molloy MJ, Wu MP, Cowan DB, Gussoni E (januar 2007). "C6ORF32 is upregulated during muscle cell differentiation and induces the formation of cellular filopodia". Developmental Biology. 301 (1): 70–81. doi:10.1016/j.ydbio.2006.11.002. PMC 1779902. PMID 17150207.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000111913 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000036006 - 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: Family with sequence similarity 65, member B".

[UniProt-6] "UniProt, Q9Y4F9" (jezik: engleski). Pristupljeno 4. 10. 2021.

[7] Diaz-Horta O, Subasioglu-Uzak A, Grati M, DeSmidt A, Foster J, Cao L, Bademci G, Tokgoz-Yilmaz S, Duman D, Cengiz FB, Abad C, Mittal R, Blanton S, Liu XZ, Farooq A, Walz K, Lu Z, Tekin M (juli 2014). "FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing". Proceedings of the National Academy of Sciences of the United States of America. 111 (27): 9864–8. Bibcode:2014PNAS..111.9864D. doi:10.1073/pnas.1401950111. PMC 4103326. PMID 24958875.

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