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0ALG8_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NameALG8
DescriptionProbable dolichyl pyrophosphate glc1man9glcnac2 alpha-1,3- glucosyltransferase (ec 2.4.1.-) (dolichyl-p-glc:glc1man9glcnac2-pp- dolichyl glucosyltransferase) (asparagine-linked glycosylation protein 8 homolog).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0016021 integral to membrane (NAS)
0016757 transferase activity, transferring glycosyl... (NAS)
0006487 protein amino acid N-linked glycosylation (NAS)

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schematic display of those terms with internal associations, click the node and browse the corresponding GO term
Domain Architecture (Details)
InterPro domains assigned to SynO:
VAMPs (and its homologue synaptobrevins) define a group of SNARE proteins that contain a C-terminal coiled-coil/SNARE motif.n combination with variable N-terminal domains that are used to classify VAMPs: those containing longin N-terminal domains (~150 aa) are referred to as longins.hile those with shorter N-termini are referred to as brevins . Longins are the only type of VAMP protein found in all eukaryotes.uggesting that their longin domain is essential. The longin domain is thought to exert a regulatory function. Longin domains have been shown to share the same structural fold. profilin-like globular domain consisting of a five-stranded antiparallel beta-sheet that is sandwiched by an alpha-helix on one side.nd two alpha-helices on the other (beta(2)-alpha-beta(3)-alpha(2)).Other families have been shown to contain domains that structurally resemble the VAMP longin domain. An example is the eukaryotic conserved protein.EDL.hich is a component of the transport protein particle (TRAPP).ritically involved in endoplasmic reticulum-to-Golgi vesicle transport; mutations in the SEDL gene are associated with an X-linked skeletal disorder.pondyloepiphyseal dysplasia tarda . Another example is the assembly domain of clathrin coat proteins.uch as Mu2 adaptin (AP50) and Sigma2 adaptin (AP17).hich structurally resemble the longin domain. AP50 and AP17 are two of the proteins that make up the core of AP2. complex that functions in clathrin-mediated endocytosis .The SSF signature in this entry is currently under review. Please be aware that some of the protein hits may be false positives.
  IPR011012:Longin-like
InterPro domains unassigned to SynO:
N-linked (asparagine-linked) glycosylation of proteins is mediated by a highly conserved pathway in eukaryotes.n which a lipid (dolicholphosphate)-linked oligosaccharide is assembled at the endoplasmic reticulum membrane prior to the transfer of the oligosaccharidemoiety to the target asparagine residues. This oligosaccharide is composed of Glc(3)Man(9)GlcNAc(2). The addition of the threeglucose residues is the final series of steps in the synthesis of the oligosaccharide precursor. Alg6 transfers the first glucose residue.nd Alg8 transfers the second one . In the human alg6 gene. C-T transition.hich causes Ala333 to be replaced with Val.asbeen identified as the cause of a congenital disorder of glycosylation.esignated as type Ic OMIM:603147 .
  IPR004856:ALG6, ALG8 glycosyltransferase
IPR004856:Alg6_Alg8 
Evalue:-1e+125 
Location:19-515
SequencesProtein: ALG8_HUMAN (526 aa)
mRNA: NM_001007027 NM_001007028 NM_024079
Local Annotation
Synapse Ontology
transport of vesicles in the presynaptic neuron
sdb:0017 Mobilization: synapsins, CAM kinase I  (Evidence:domains)
Fusion of intracellular membrane-bound vesicles with the pre-synaptic membrane of the neuronal cell resulting in release of neurotransmitter into the synaptic cleft.
sdb:0049 synaptic vesicle fusion  (Evidence:domains)
priming for exocytosis prepares the calcium-dependent release and may involve partial fusion process. The vesicles are primed and become responsive to calcium.
sdb:0120 priming  (Evidence:domains)
attachment of the vesicle filled with transmitters involves a specific interaction between the vesicle membrane and the presynaptic active zone.
sdb:0148 docking  (Evidence:domains)
KO assignmentK03849
  Level 3 annotation:
    alpha-1,3-glucosyltransferase
  Level 2 annotation:
    N-Glycan biosynthesis
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 84 residues, 77489638-77489889Exon2: 26 residues, 77492673-77492746Exon3: 34 residues, 77493049-77493147Exon4: 48 residues, 77495500-77495640Exon5: 48 residues, 77498135-77498275Exon6: 42 residues, 77501343-77501464Exon7: 36 residues, 77502579-77502683Exon8: 44 residues, 77502959-77503086Exon9: 24 residues, 77507875-77507943Exon10: 38 residues, 77509758-77509868Exon11: 66 residues, 77512714-77512908Exon12: 28 residues, 77516051-77516130Exon13: 61 residues, 77528166-77528343Exon14: 2 residues, -Jump to ALG8_HUMANExon1: 84 residues, 77489638-77489889Exon2: 26 residues, 77492673-77492746Exon3: 34 residues, 77493049-77493147Exon4: 48 residues, 77495500-77495640Exon5: 48 residues, 77498135-77498275Exon6: 42 residues, 77501343-77501464Exon7: 36 residues, 77502579-77502683Exon8: 44 residues, 77502959-77503086Exon9: 24 residues, 77507875-77507943Exon10: 38 residues, 77509758-77509868Exon11: 66 residues, 77512714-77512908Exon12: 28 residues, 77516051-77516130Exon13: 54 residues, 77528187-77528343Exon14: 2 residues, -Jump to ALG8_HUMANExon1: 84 residues, 77489638-77489889Exon2: 27 residues, 77491567-77491642Exon3: 26 residues, 77492673-77492746Exon4: 34 residues, 77493049-77493147Exon5: 48 residues, 77495500-77495640Exon6: 48 residues, 77498135-77498275Exon7: 42 residues, 77501343-77501464Exon8: 36 residues, 77502579-77502683Exon9: 44 residues, 77502959-77503086Exon10: 24 residues, 77507875-77507943Exon11: 38 residues, 77509758-77509868Exon12: 66 residues, 77512714-77512908Exon13: 28 residues, 77516051-77516130Exon14: 54 residues, 77528187-77528343Exon15: 2 residues, -Jump to ALG8_HUMAN  
Tune and view alternative isoforms
Loci Cluster (Details)Loci: 3975 77457048-77468579 ~-12K 7475(NDUFC2)(-)Loci: 3976 77489638-77528343 ~-39K 7476(ALG8)(-)Loci: 3977 77559948-77577312 ~-17K 7479(-)Loci: 2695 77562468-77564017 ~-2K 7480(+)Loci: 3974 77004847-77026495 ~-22K 7463(CLNS1A)(-)Link out to UCSC