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Sequence of ALG9_HUMAN

EC Number:2.4.1.259

EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
dolichyl-P-Man:Man6GlcNAc2-PP-dolichol alpha-1,2-mannosyltransferase
Q9H6U8
Homo sapiens
611
69863
Reaction
dolichyl beta-D-mannosyl phosphate + alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->3)-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-alpha-D-GlcNAc-diphosphodolichol = alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-alpha-D-GlcNAc-diphosphodolichol + dolichyl phosphate
Other sequences found for EC No. 2.4.1.259

General information:

Sequence
show sequence in fasta format
  0 MASRGARQRL KGSGASSGDT APAADKLREL LGSREAGGAE HRTELSGNKA GQVWAPEGST
 60 AFKCLLSARL CAALLSNISD CDETFNYWEP THYLIYGEGF QTWEYSPAYA IRSYAYLLLH
120 AWPAAFHARI LQTNKILVFY FLRCLLAFVS CICELYFYKA VCKKFGLHVS RMMLAFLVLS
180 TGMFCSSSAF LPSSFCMYTT LIAMTGWYMD KTSIAVLGVA AGAILGWPFS AALGLPIAFD
240 LLVMKHRWKS FFHWSLMALI LFLVPVVVID SYYYGKLVIA PLNIVLYNVF TPHGPDLYGT
300 EPWYFYLING FLNFNVAFAL ALLVLPLTSL MEYLLQRFHV QNLGHPYWLT LAPMYIWFII
360 FFIQPHKEER FLFPVYPLIC LCGAVALSAL QKCYHFVFQR YRLEHYTVTS NWLALGTVFL
420 FGLLSFSRSV ALFRGYHGPL DLYPEFYRIA TDPTIHTVPE GRPVNVCVGK EWYRFPSSFL
480 LPDNWQLQFI PSEFRGQLPK PFAEGPLATR IVPTDMNDQN LEEPSRYIDI SKCHYLVDLD
540 TMRETPREPK YSSNKEEWIS LAYRPFLDAS RSSKLLRAFY VPFLSDQYTV YVNYTILKPR
600 KAKQIRKKSG G
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Sequence related references
Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
263255
Baysal B.E.,Willett-Brozick J.E.,Badner J.A.,Corona W.,Ferrell R.E.,Nimgaonkar V.L.,Detera-Wadleigh S.D.
A mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint that co-segregates with bipolar affective disorder in a small family.
Neurogenetics
4
43-53
2002
263257
Wiemann S.,Weil B.,Wellenreuther R.,Gassenhuber J.,Glassl S.,Ansorge W.,Boecher M.,Bloecker H.,Bauersachs S.,Blum H.,Lauber J.,Duesterhoeft A.,Beyer A.,Koehrer K.,Strack N.,Mewes H.-W.,Ottenwaelder B.,Obermaier B.,Tampe J.,Heubner D.,Wambutt R.,Korn B.,Klein M.,Poustka A.
Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
Genome Res.
11
422-435
2001
263258
Ota T.,Suzuki Y.,Nishikawa T.,Otsuki T.,Sugiyama T.,Irie R.,Wakamatsu A.,Hayashi K.,Sato H.,Nagai K.,Kimura K.,Makita H.,Sekine M.,Obayashi M.,Nishi T.,Shibahara T.,Tanaka T.,Ishii S.,Yamamoto J.,Saito K.,Kawai Y.,Isono Y.,Nakamura Y.,Nagahari K.,Murakami K.,Yasuda T.,Iwayanagi T.,Wagatsuma M.,Shiratori A.,Sudo H.,Hosoiri T.,Kaku Y.,Kodaira H.,Kondo H.,Sugawara M.,Takahashi M.,Kanda K.,Yokoi T.,Furuya T.,Kikkawa E.,Omura Y.,Abe K.,Kamihara K.,Katsuta N.,Sato K.,Tanikawa M.,Yamazaki M.,Ninomiya K.,Ishibashi T.,Yamashita H.,Murakawa K.,Fujimori K.,Tanai H.,Kimata M.,Watanabe M.,Hiraoka S.,Chiba Y.,Ishida S.,Ono Y.,Takiguchi S.,Watanabe S.,Yosida M.,Hotuta T.,Kusano J.,Kanehori K.,Takahashi-Fujii A.,Hara H.,Tanase T.-O.,Nomura Y.,Togiya S.,Komai F.,Hara R.,Takeuchi K.,Arita M.,Imose N.,Musashino K.,Yuuki H.,Oshima A.,Sasaki N.,Aotsuka S.,Yoshikawa Y.,Matsunawa H.,Ichihara T.,Shiohata N.,Sano S.,Moriya S.,Momiyama H.,Satoh N.,Takami S.,Terashima Y.,Suzuki O.,Nakagawa S.,Senoh A.,Mizoguchi H.,Goto Y.,Shimizu F.,Wakebe H.,Hishigaki H.,Watanabe T.,Sugiyama A.,Takemoto M.,Kawakami B.,Yamazaki M.,Watanabe K.,Kumagai A.,Itakura S.,Fukuzumi Y.,Fujimori Y.,Komiyama M.,Tashiro H.,Tanigami A.,Fujiwara T.,Ono T.,Yamada K.,Fujii Y.,Ozaki K.,Hirao M.,Ohmori Y.,Kawabata A.,Hikiji T.,Kobatake N.,Inagaki H.,Ikema Y.,Okamoto S.,Okitani R.,Kawakami T.,Noguchi S.,Itoh T.,Shigeta K.,Senba T.,Matsumura K.,Nakajima Y.,Mizuno T.,Morinaga M.,Sasaki M.,Togashi T.,Oyama M.,Hata H.,Watanabe M.,Komatsu T.,Mizushima-Sugano J.,Satoh T.,Shirai Y.,Takahashi Y.,Nakagawa K.,Okumura K.,Nagase T.,Nomura N.,Kikuchi H.,Masuho Y.,Yamashita R.,Nakai K.,Yada T.,Nakamura Y.,Ohara O.,Isogai T.,Sugano S.
Complete sequencing and characterization of 21,243 full-length human cDNAs.
Nat. Genet.
36
40-45
2004
263259
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
263260
Frank C.G.,Grubenmann C.E.,Eyaid W.,Berger E.G.,Aebi M.,Hennet T.
Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.
Am. J. Hum. Genet.
75
146-150
2004
263261
Weinstein M.,Schollen E.,Matthijs G.,Neupert C.,Hennet T.,Grubenmann C.E.,Frank C.G.,Aebi M.,Clarke J.T.R.,Griffiths A.,Seargeant L.,Poplawski N.
CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.
Am. J. Med. Genet. A
136
194-197
2005
263262
Baysal B.E.,Willett-Brozick J.E.,Bacanu S.A.,Detera-Wadleigh S.,Nimgaonkar V.L.
Common variations in ALG9 are not associated with bipolar I disorder: a family-based study.
Behav. Brain Funct.
2
25-25
2006
263263
Tham E.,Eklund E.A.,Hammarsjoe A.,Bengtson P.,Geiberger S.,Lagerstedt-Robinson K.,Malmgren H.,Nilsson D.,Grigelionis G.,Conner P.,Lindgren P.,Lindstrand A.,Wedell A.,Albaage M.,Zielinska K.,Nordgren A.,Papadogiannakis N.,Nishimura G.,Grigelioniene G.
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
Eur. J. Hum. Genet.
24
198-207
2016