Aminokiselinska sekvenca
uredi
Dužina polipeptidnog lanca je 598aminokiselina , а molekulska težina 67.751 Da .[ 8]
10 20 30 40 50 MASLRRVKVL LVLNLIAVAG FVLFLAKCRP IAVRSGDAFH EIRPRAEVAN LSAHSASPIQ DAVLKRLSLL EDIVYRQLNG LSKSLGLIEG YGGRGKGGLP ATLSPAEEEK AKGPHEKYGY NSYLSEKISL DRSIPDYRPT KCKELKYSKD LPQISIIFIF VNEALSVILR SVHSAVNHTP THLLKEIILV DDNSDEEELK VPLEEYVHKR YPGLVKVVRN QKREGLIRAR IEGWKVATGQ VTGFFDAHVE FTAGWAEPVL SRIQENRKRV ILPSIDNIKQ DNFEVQRYEN SAHGYSWELW CMYISPPKDW WDAGDPSLPI RTPAMIGCSF VVNRKFFGEI GLLDPGMDVY GGENIELGIK VWLCGGSMEV LPCSRVAHIE RKKKPYNSNI GFYTKRNALR VAEVWMDDYK SHVYIAWNLP LENPGIDIGD VSERRALRKS LKCKNFQWYL DHVYPEMRRY NNTVAYGELR NNKAKDVCLD QGPLENHTAI LYPCHGWGPQ LARYTKEGFL HLGALGTTTL LPDTRCLVDN SKSRLPQLLD CDKVKSSLYK RWNFIQNGAI MNKGTGRCLE VENRGLAGID LILRSCTGQR WTIKNSIK
Ovaj gen kodira N-acetilgalaktosaminiltransferazu, koja ima 97% identičnosti sekvence sa mišjim proteinom. Deletiran je u Williamsovom sindromu , multisistemskom razvojnom poremećaju, uzrokovanom delecijom susjednih gena na 7q11.23.[ 7]
^ a b c GRCh38: Ensembl release 89: ENSG00000185274 - Ensembl , maj 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034040 - 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 .^ Merla G, Ucla C, Guipponi M, Reymond A (Jun 2002). "Identification of additional transcripts in the Williams-Beuren syndrome critical region". Hum Genet . 110 (5): 429–38. doi :10.1007/s00439-002-0710-x . PMID 12073013 . S2CID 29964959 . ^ Nakamura N, Toba S, Hirai M, Morishita S, Mikami T, Konishi M, Itoh N, Kurosaka A (Mar 2005). "Cloning and expression of a brain-specific putative UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase gene" . Biological and Pharmaceutical Bulletin . 28 (3): 429–33. doi :10.1248/bpb.28.429 PMID 15744064 . ^ a b "Entrez Gene: WBSCR17 Williams-Beuren syndrome chromosome region 17" .^ "UniProt, Q6IS24" (jezik: engleski). Pristupljeno 30. 9. 2021 .
Dopunska literatura
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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 . Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5. doi :10.1038/ng1285 PMID 14702039 . Scherer SW, Cheung J, MacDonald JR, et al. (2003). "Human chromosome 7: DNA sequence and biology" . Science . 300 (5620): 767–72. doi :10.1126/science.1083423 . PMC 2882961 PMID 12690205 . 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. doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Valero MC, de Luis O, Cruces J, Pérez Jurado LA (2001). "Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s)". Genomics . 69 (1): 1–13. doi :10.1006/geno.2000.6312 . PMID 11013070 . Adams MD, Kerlavage AR, Fleischmann RD, et al. (1995). "Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence" (PDF) . Nature 377 (6547 Suppl): 3–174. PMID 7566098 .
