B3GALT5

B3GALT5
Identifikatori
Aliasi	B3GALT5
Vanjski ID-jevi	OMIM: 604066 MGI: 2136878 HomoloGene: 13230 GeneCards: B3GALT5
Lokacija gena (čovjek) Hrom. Hromosom 21 (čovjek)[1] Bend 21q22.2 Početak 39,556,442 bp[1] Kraj 39,673,137 bp[1]
Lokacija gena (miš) Hrom. Hromosom 16 (miš)[2] Bend 16|16 C4 Početak 96,037,001 bp[2] Kraj 96,121,059 bp[2]
Obrazac RNK ekspresije Više referentnih podataka o ekspresiji
Ontologija gena Molekularna funkcija • aktivnost sa transferazom • UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity • galactosyltransferase activity • glycosyltransferase activity • acetylgalactosaminyltransferase activity Ćelijska komponenta • integral component of membrane • Golđijeva membrana • Golđijev aparat • Endoplazmatski retikulum • membrana Biološki proces • GO:0033578, GO:0033577, GO:0033575, GO:0033576 protein glycosylation • protein N-linked glycosylation • oligosaccharide biosynthetic process Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	10317	93961
Ensembl	ENSG00000183778	ENSMUSG00000074892
UniProt	Q9Y2C3	Q9JI67
RefSeq (mRNK)	NM_033173 NM_001278650 NM_006057 NM_033170 NM_033171 NM_033172 NM_001356336 NM_001356338 NM_001356339	NM_001122993 NM_033149 NM_001358389 NM_001358390
RefSeq (bjelančevina)	NP_001265579 NP_006048 NP_149360 NP_149361 NP_149362 NP_001343265 NP_001343267 NP_001343268	NP_001116465 NP_149161 NP_001345318 NP_001345319
Lokacija (UCSC)	Chr 21: 39.56 – 39.67 Mb	Chr 16: 96.04 – 96.12 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Beta-1,3-galaktoziltransferaza 5 jest enzim koji je kod ljudi kodiran genom B3GALT5 sa hromosoma 21.^[5][6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 310 aminokiselina, a molekulska težina 36.189 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
MAFPKMRLMY		ICLLVLGALC		LYFSMYSLNP		FKEQSFVYKK		DGNFLKLPDT
DCRQTPPFLV		LLVTSSHKQL		AERMAIRQTW		GKERMVKGKQ		LKTFFLLGTT
SSAAETKEVD		QESQRHGDII		QKDFLDVYYN		LTLKTMMGIE		WVHRFCPQAA
FVMKTDSDMF		INVDYLTELL		LKKNRTTRFF		TGFLKLNEFP		IRQPFSKWFV
SKSEYPWDRY		PPFCSGTGYV		FSGDVASQVY		NVSKSVPYIK		LEDVFVGLCL
ERLNIRLEEL		HSQPTFFPGG		LRFSVCLFRR		IVACHFIKPR		TLLDYWQALE
NSRGEDCPPV

Funkcija

Ovaj gen je član porodice gena beta-1,3-galaktoziltransferaza (beta3GalT). Porodica kodira tip II membranski vezanih glikoproteina sa različitim enzimskim funkcijama, koristeći različite donorske supstrate (UDP-galaktoza i UDP-N-acetilglukozamin) i različite akceptorske šećere (N-acetilglukozamin, galaktoza, N-acetilgalaktozamin). Beta3GalT geni su udaljeni srodnici gena Drosophila brainiak i imaju kodirajuću sekvencu proteina u jednom egzonu. Proteini beta3GalT također sadrže konzervirane sekvence koje se ne nalaze u beta4GalT ili alpha3GalT proteinima.

Ugljikohidratni lanci sintetizirani ovim enzimima označeni su kao tip 1, dok beta4GalT enzimi sintetiziraju lance ugljikohidrata tipa 2. Odnos lanaca tipa 1:tip 2 menja se tokom embriogeneze. Prema sličnosti sekvenci, geni beta3GalT spadaju u najmanje dvije grupe: beta3GalT4 i 4 druga beta3GalT gena (beta3GalT1-3, beta3GalT5). Ovaj gen kodira najvjerovatnijeg kandidata za sintezu tipa 1 Lewis antigena za koje se često nađe da su povišeni u gastrointestinalnom kanceru i raku gušterače. Kodirani protein je neaktivan sa N-vezanim glikoproteinima i funkcioniše u glikozilaciji mucin. Opisano je pet varijanti transkripta koje se razlikuju u 5' UTR. Sve varijante transkripta kodiraju identičan protein.^[6]

Reference

1. GRCh38: Ensembl release 89: ENSG00000183778 - Ensembl, maj 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000074892 - 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. Isshiki S, Togayachi A, Kudo T, Nishihara S, Watanabe M, Kubota T, Kitajima M, Shiraishi N, Sasaki K, Andoh T, Narimatsu H (Jun 1999). "Cloning, expression, and characterization of a novel UDP-galactose:beta-N-acetylglucosamine beta1,3-galactosyltransferase (beta3Gal-T5) responsible for synthesis of type 1 chain in colorectal and pancreatic epithelia and tumor cells derived therefrom". J Biol Chem. 274 (18): 12499–507. doi:10.1074/jbc.274.18.12499. PMID 10212226.
6. "Entrez Gene: B3GALT5 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5".

Dopunska literatura

• Amado M, Almeida R, Schwientek T, Clausen H (2000). "Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions". Biochim. Biophys. Acta. 1473 (1): 35–53. doi:10.1016/S0304-4165(99)00168-3. PMID 10580128.
• Kalyanaraman VS, Rodriguez V, Veronese F, et al. (1990). "Characterization of the secreted, native gp120 and gp160 of the human immunodeficiency virus type 1". AIDS Res. Hum. Retroviruses. 6 (3): 371–80. doi:10.1089/aid.1990.6.371. PMID 2187500.
• Pal R, Hoke GM, Sarngadharan MG (1989). "Role of oligosaccharides in the processing and maturation of envelope glycoproteins of human immunodeficiency virus type 1". Proc. Natl. Acad. Sci. U.S.A. 86 (9): 3384–8. Bibcode:1989PNAS...86.3384P. doi:10.1073/pnas.86.9.3384. PMC 287137. PMID 2541446.
• Dewar RL, Vasudevachari MB, Natarajan V, Salzman NP (1989). "Biosynthesis and processing of human immunodeficiency virus type 1 envelope glycoproteins: effects of monensin on glycosylation and transport". J. Virol. 63 (6): 2452–6. doi:10.1128/jvi.63.6.2452-2456.1989. PMC 250699. PMID 2542563.
• Kozarsky K, Penman M, Basiripour L, et al. (1989). "Glycosylation and processing of the human immunodeficiency virus type 1 envelope protein". J. Acquir. Immune Defic. Syndr. 2 (2): 163–9. PMID 2649653.
• Robinson WE, Montefiori DC, Mitchell WM (1988). "Evidence that mannosyl residues are involved in human immunodeficiency virus type 1 (HIV-1) pathogenesis". AIDS Res. Hum. Retroviruses. 3 (3): 265–82. doi:10.1089/aid.1987.3.265. PMID 2829950.
• Zhou D, Berger EG, Hennet T (1999). "Molecular cloning of a human UDP-galactose:GlcNAcbeta1,3GalNAc beta1, 3 galactosyltransferase gene encoding an O-linked core3-elongation enzyme". Eur. J. Biochem. 263 (2): 571–6. doi:10.1046/j.1432-1327.1999.00541.x. PMID 10406968.
• Hattori M, Fujiyama A, Taylor TD, et al. (2000). "The DNA sequence of human chromosome 21". Nature. 405 (6784): 311–9. Bibcode:2000Natur.405..311H. doi:10.1038/35012518. PMID 10830953.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Dunn CA, Medstrand P, Mager DL (2004). "An endogenous retroviral long terminal repeat is the dominant promoter for human β1,3-galactosyltransferase 5 in the colon". Proc. Natl. Acad. Sci. U.S.A. 100 (22): 12841–6. doi:10.1073/pnas.2134464100. PMC 240706. PMID 14534330.
• Sato T, Furukawa K (2004). "Transcriptional regulation of the human beta-1,4-galactosyltransferase V gene in cancer cells: essential role of transcription factor Sp1". J. Biol. Chem. 279 (38): 39574–83. doi:10.1074/jbc.M405805200. PMID 15263012.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Dunn CA, van de Lagemaat LN, Baillie GJ, Mager DL (2006). "Endogenous retrovirus long terminal repeats as ready-to-use mobile promoters: the case of primate beta3GAL-T5". Gene. 364: 2–12. doi:10.1016/j.gene.2005.05.045. PMID 16112824.
• Hu YH, Warnatz HJ, Vanhecke D, et al. (2006). "Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins". BMC Genomics. 7: 155. doi:10.1186/1471-2164-7-155. PMC 1526728. PMID 16780588.

Vanjski linkovi

• B3GALT5 lokacija ljudskog genoma UCSC Genome Browser.

B3GALT5 detalji ljudskog genoma u UCSC Genome Browser.