UniProtKB - Q9BV10 (ALG12_HUMAN)
Protein
Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase
Gene
ALG12
Organism
Homo sapiens (Human)
Status
Functioni
Adds the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man7GlcNAc2) required for protein glycosylation.
Catalytic activityi
- α-D-Man-(1→2)-α-D-Man-(1→2)-α-D-Man-(1→3)-[α-D-Man-(1→2)-α-D-Man-(1→3)-α-D-Man-(1→6)]-β-D-Man-(1→4)-β-D-GlcNAc-(1→4)-α-D-GlcNAc-diphosphodolichol + dolichyl β-D-mannosyl phosphate = α-D-Man-(1→2)-α-D-Man-(1→2)-α-D-Man-(1→3)-[α-D-Man-(1→2)-α-D-Man-(1→3)-[α-D-Man-(1→6)]-α-D-Man-(1→6)]-β-D-Man-(1→4)-β-D-GlcNAc-(1→4)-α-D-GlcNAc-diphosphodolichol + dolichyl phosphate + H+EC:2.4.1.260
: protein glycosylation Pathwayi
This protein is involved in the pathway protein glycosylation, which is part of Protein modification.View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.
GO - Molecular functioni
- alpha-1,6-mannosyltransferase activity Source: GO_Central
- dolichyl-pyrophosphate Man7GlcNAc2 alpha-1,6-mannosyltransferase activity Source: InterPro
- dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity Source: UniProtKB-EC
- mannosyltransferase activity Source: GO_Central
GO - Biological processi
- dolichol-linked oligosaccharide biosynthetic process Source: MGI
- protein folding Source: UniProtKB
- protein N-linked glycosylation Source: GO_Central
Keywordsi
Molecular function | Glycosyltransferase, Transferase |
Enzyme and pathway databases
BRENDAi | 2.4.1.260, 2681 |
PathwayCommonsi | Q9BV10 |
Reactomei | R-HSA-446193, Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein R-HSA-4720489, Defective ALG12 causes ALG12-CDG (CDG-1g) |
UniPathwayi | UPA00378 |
Protein family/group databases
CAZyi | GT22, Glycosyltransferase Family 22 |
Names & Taxonomyi
Protein namesi | Recommended name: Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase (EC:2.4.1.260)Alternative name(s): Asparagine-linked glycosylation protein 12 homolog Short name: hALG12 Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase Mannosyltransferase ALG12 homolog Membrane protein SB87 |
Gene namesi | Name:ALG12 ORF Names:PP14673 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000182858.13 |
HGNCi | HGNC:19358, ALG12 |
MIMi | 607144, gene |
neXtProti | NX_Q9BV10 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane Curated; Multi-pass membrane protein Curated
Endoplasmic reticulum
- endoplasmic reticulum Source: GO_Central
- endoplasmic reticulum lumen Source: InterPro
- endoplasmic reticulum membrane Source: GO_Central
Other locations
- integral component of membrane Source: UniProtKB-KW
- membrane Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 11 – 31 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 68 – 88 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 93 – 113 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 122 – 142 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 145 – 165 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 177 – 197 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 212 – 232 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 264 – 284 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 290 – 310 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 312 – 332 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 346 – 366 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 423 – 443 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Endoplasmic reticulum, MembranePathology & Biotechi
Involvement in diseasei
Congenital disorder of glycosylation 1G (CDG1G)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_017904 | 67 | T → M in CDG1G. 1 PublicationCorresponds to variant dbSNP:rs121907931EnsemblClinVar. | 1 | |
Natural variantiVAR_038428 | 101 | G → R in CDG1G. 1 PublicationCorresponds to variant dbSNP:rs121907933EnsemblClinVar. | 1 | |
Natural variantiVAR_017905 | 142 | F → V in CDG1G. 1 PublicationCorresponds to variant dbSNP:rs28942090EnsemblClinVar. | 1 | |
Natural variantiVAR_017906 | 146 | R → Q in CDG1G. 2 PublicationsCorresponds to variant dbSNP:rs121907932EnsemblClinVar. | 1 | |
Natural variantiVAR_017907 | 158 | L → P in CDG1G. 1 PublicationCorresponds to variant dbSNP:rs121907934EnsemblClinVar. | 1 |
Keywords - Diseasei
Congenital disorder of glycosylation, Disease mutationOrganism-specific databases
DisGeNETi | 79087 |
GeneReviewsi | ALG12 |
MalaCardsi | ALG12 |
MIMi | 607143, phenotype |
OpenTargetsi | ENSG00000182858 |
Orphaneti | 79324, ALG12-CDG |
PharmGKBi | PA134987771 |
Miscellaneous databases
Pharosi | Q9BV10, Tbio |
Polymorphism and mutation databases
BioMutai | ALG12 |
DMDMi | 45476971 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000215781 | 1 – 488 | Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferaseAdd BLAST | 488 |
Proteomic databases
EPDi | Q9BV10 |
jPOSTi | Q9BV10 |
MassIVEi | Q9BV10 |
MaxQBi | Q9BV10 |
PaxDbi | Q9BV10 |
PeptideAtlasi | Q9BV10 |
PRIDEi | Q9BV10 |
ProteomicsDBi | 79150 |
PTM databases
iPTMneti | Q9BV10 |
PhosphoSitePlusi | Q9BV10 |
Expressioni
Tissue specificityi
Expressed in fibroblasts.
Gene expression databases
Bgeei | ENSG00000182858, Expressed in right lobe of thyroid gland and 203 other tissues |
ExpressionAtlasi | Q9BV10, baseline and differential |
Genevisiblei | Q9BV10, HS |
Organism-specific databases
HPAi | ENSG00000182858, Low tissue specificity |
Interactioni
Protein-protein interaction databases
BioGRIDi | 122535, 10 interactors |
IntActi | Q9BV10, 9 interactors |
STRINGi | 9606.ENSP00000333813 |
Miscellaneous databases
RNActi | Q9BV10, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the glycosyltransferase 22 family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG2516, Eukaryota |
GeneTreei | ENSGT00950000183090 |
HOGENOMi | CLU_008917_0_0_1 |
InParanoidi | Q9BV10 |
OMAi | TSWMAQK |
PhylomeDBi | Q9BV10 |
TreeFami | TF314453 |
Family and domain databases
InterProi | View protein in InterPro IPR039485, ALG12 IPR005599, GPI_mannosylTrfase |
PANTHERi | PTHR22760, PTHR22760, 1 hit PTHR22760:SF1, PTHR22760:SF1, 1 hit |
Pfami | View protein in Pfam PF03901, Glyco_transf_22, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All
Q9BV10-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MAGKGSSGRR PLLLGLLVAV ATVHLVICPY TKVEESFNLQ ATHDLLYHWQ
60 70 80 90 100
DLEQYDHLEF PGVVPRTFLG PVVIAVFSSP AVYVLSLLEM SKFYSQLIVR
110 120 130 140 150
GVLGLGVIFG LWTLQKEVRR HFGAMVATMF CWVTAMQFHL MFYCTRTLPN
160 170 180 190 200
VLALPVVLLA LAAWLRHEWA RFIWLSAFAI IVFRVELCLF LGLLLLLALG
210 220 230 240 250
NRKVSVVRAL RHAVPAGILC LGLTVAVDSY FWRQLTWPEG KVLWYNTVLN
260 270 280 290 300
KSSNWGTSPL LWYFYSALPR GLGCSLLFIP LGLVDRRTHA PTVLALGFMA
310 320 330 340 350
LYSLLPHKEL RFIIYAFPML NITAARGCSY LLNNYKKSWL YKAGSLLVIG
360 370 380 390 400
HLVVNAAYSA TALYVSHFNY PGGVAMQRLH QLVPPQTDVL LHIDVAAAQT
410 420 430 440 450
GVSRFLQVNS AWRYDKREDV QPGTGMLAYT HILMEAAPGL LALYRDTHRV
460 470 480
LASVVGTTGV SLNLTQLPPF NVHLQTKLVL LERLPRPS
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH7C5R7 | H7C5R7_HUMAN | Mannosyltransferase | ALG12 | 205 | Annotation score: | ||
H7C4I6 | H7C4I6_HUMAN | Mannosyltransferase | ALG12 | 196 | Annotation score: |
Sequence cautioni
The sequence AAM94900 differs from that shown. Reason: Frameshift.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 267 | A → T in AAM94900 (Ref. 2) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_017904 | 67 | T → M in CDG1G. 1 PublicationCorresponds to variant dbSNP:rs121907931EnsemblClinVar. | 1 | |
Natural variantiVAR_038428 | 101 | G → R in CDG1G. 1 PublicationCorresponds to variant dbSNP:rs121907933EnsemblClinVar. | 1 | |
Natural variantiVAR_017905 | 142 | F → V in CDG1G. 1 PublicationCorresponds to variant dbSNP:rs28942090EnsemblClinVar. | 1 | |
Natural variantiVAR_017906 | 146 | R → Q in CDG1G. 2 PublicationsCorresponds to variant dbSNP:rs121907932EnsemblClinVar. | 1 | |
Natural variantiVAR_017907 | 158 | L → P in CDG1G. 1 PublicationCorresponds to variant dbSNP:rs121907934EnsemblClinVar. | 1 | |
Natural variantiVAR_024466 | 393 | I → V1 PublicationCorresponds to variant dbSNP:rs3922872EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ290427 mRNA Translation: CAC83681.1 AJ303120 mRNA Translation: CAC67488.1 AF311904 mRNA Translation: AAM94900.1 Frameshift. AF318343 mRNA Translation: AAL55850.1 CR456369 mRNA Translation: CAG30255.1 AL671710 Genomic DNA No translation available. CH471138 Genomic DNA Translation: EAW73480.1 BC001729 mRNA Translation: AAH01729.1 BC098562 mRNA Translation: AAH98562.1 |
CCDSi | CCDS14081.1 |
RefSeqi | NP_077010.1, NM_024105.3 |
Genome annotation databases
Ensembli | ENST00000330817; ENSP00000333813; ENSG00000182858 |
GeneIDi | 79087 |
KEGGi | hsa:79087 |
UCSCi | uc003biy.4, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ290427 mRNA Translation: CAC83681.1 AJ303120 mRNA Translation: CAC67488.1 AF311904 mRNA Translation: AAM94900.1 Frameshift. AF318343 mRNA Translation: AAL55850.1 CR456369 mRNA Translation: CAG30255.1 AL671710 Genomic DNA No translation available. CH471138 Genomic DNA Translation: EAW73480.1 BC001729 mRNA Translation: AAH01729.1 BC098562 mRNA Translation: AAH98562.1 |
CCDSi | CCDS14081.1 |
RefSeqi | NP_077010.1, NM_024105.3 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 122535, 10 interactors |
IntActi | Q9BV10, 9 interactors |
STRINGi | 9606.ENSP00000333813 |
Protein family/group databases
CAZyi | GT22, Glycosyltransferase Family 22 |
PTM databases
iPTMneti | Q9BV10 |
PhosphoSitePlusi | Q9BV10 |
Polymorphism and mutation databases
BioMutai | ALG12 |
DMDMi | 45476971 |
Proteomic databases
EPDi | Q9BV10 |
jPOSTi | Q9BV10 |
MassIVEi | Q9BV10 |
MaxQBi | Q9BV10 |
PaxDbi | Q9BV10 |
PeptideAtlasi | Q9BV10 |
PRIDEi | Q9BV10 |
ProteomicsDBi | 79150 |
Protocols and materials databases
Antibodypediai | 28215, 89 antibodies |
DNASUi | 79087 |
Genome annotation databases
Ensembli | ENST00000330817; ENSP00000333813; ENSG00000182858 |
GeneIDi | 79087 |
KEGGi | hsa:79087 |
UCSCi | uc003biy.4, human |
Organism-specific databases
CTDi | 79087 |
DisGeNETi | 79087 |
EuPathDBi | HostDB:ENSG00000182858.13 |
GeneCardsi | ALG12 |
GeneReviewsi | ALG12 |
HGNCi | HGNC:19358, ALG12 |
HPAi | ENSG00000182858, Low tissue specificity |
MalaCardsi | ALG12 |
MIMi | 607143, phenotype 607144, gene |
neXtProti | NX_Q9BV10 |
OpenTargetsi | ENSG00000182858 |
Orphaneti | 79324, ALG12-CDG |
PharmGKBi | PA134987771 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2516, Eukaryota |
GeneTreei | ENSGT00950000183090 |
HOGENOMi | CLU_008917_0_0_1 |
InParanoidi | Q9BV10 |
OMAi | TSWMAQK |
PhylomeDBi | Q9BV10 |
TreeFami | TF314453 |
Enzyme and pathway databases
UniPathwayi | UPA00378 |
BRENDAi | 2.4.1.260, 2681 |
PathwayCommonsi | Q9BV10 |
Reactomei | R-HSA-446193, Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein R-HSA-4720489, Defective ALG12 causes ALG12-CDG (CDG-1g) |
Miscellaneous databases
BioGRID-ORCSi | 79087, 69 hits in 845 CRISPR screens |
ChiTaRSi | ALG12, human |
GeneWikii | ALG12 |
GenomeRNAii | 79087 |
Pharosi | Q9BV10, Tbio |
PROi | PR:Q9BV10 |
RNActi | Q9BV10, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000182858, Expressed in right lobe of thyroid gland and 203 other tissues |
ExpressionAtlasi | Q9BV10, baseline and differential |
Genevisiblei | Q9BV10, HS |
Family and domain databases
InterProi | View protein in InterPro IPR039485, ALG12 IPR005599, GPI_mannosylTrfase |
PANTHERi | PTHR22760, PTHR22760, 1 hit PTHR22760:SF1, PTHR22760:SF1, 1 hit |
Pfami | View protein in Pfam PF03901, Glyco_transf_22, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ALG12_HUMAN | |
Accessioni | Q9BV10Primary (citable) accession number: Q9BV10 Secondary accession number(s): A6PWM1 Q96AA4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 15, 2004 |
Last sequence update: | June 1, 2001 | |
Last modified: | December 2, 2020 | |
This is version 167 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families - Human chromosome 22
Human chromosome 22: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations