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Protein

Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase

Gene

ALG12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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

Dolichyl beta-D-mannosyl phosphate + D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-D-Man-alpha-(1->6))-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol = D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->6))-D-Man-alpha-(1->6))-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol + dolichyl phosphate.

Pathwayi: protein glycosylation

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

GO - Biological processi

  • dolichol-linked oligosaccharide biosynthetic process Source: MGI
  • protein folding Source: UniProtKB
  • protein N-linked glycosylation Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Enzyme and pathway databases

BRENDAi2.4.1.260. 2681.
ReactomeiR-HSA-446193. Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.
UniPathwayiUPA00378.

Protein family/group databases

CAZyiGT22. 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:19358. ALG12.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei11 – 31HelicalSequence analysisAdd BLAST21
Transmembranei68 – 88HelicalSequence analysisAdd BLAST21
Transmembranei93 – 113HelicalSequence analysisAdd BLAST21
Transmembranei122 – 142HelicalSequence analysisAdd BLAST21
Transmembranei145 – 165HelicalSequence analysisAdd BLAST21
Transmembranei177 – 197HelicalSequence analysisAdd BLAST21
Transmembranei212 – 232HelicalSequence analysisAdd BLAST21
Transmembranei264 – 284HelicalSequence analysisAdd BLAST21
Transmembranei290 – 310HelicalSequence analysisAdd BLAST21
Transmembranei312 – 332HelicalSequence analysisAdd BLAST21
Transmembranei346 – 366HelicalSequence analysisAdd BLAST21
Transmembranei423 – 443HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum membrane Source: Reactome
  • integral component of membrane Source: UniProtKB-KW
  • membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Congenital disorder of glycosylation 1G (CDG1G)3 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.
See also OMIM:607143
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01790467T → M in CDG1G. 1 PublicationCorresponds to variant rs121907931dbSNPEnsembl.1
Natural variantiVAR_038428101G → R in CDG1G. 1 PublicationCorresponds to variant rs121907933dbSNPEnsembl.1
Natural variantiVAR_017905142F → V in CDG1G. 1 PublicationCorresponds to variant rs28942090dbSNPEnsembl.1
Natural variantiVAR_017906146R → Q in CDG1G. 2 PublicationsCorresponds to variant rs121907932dbSNPEnsembl.1
Natural variantiVAR_017907158L → P in CDG1G. 1 PublicationCorresponds to variant rs121907934dbSNPEnsembl.1

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation

Organism-specific databases

DisGeNETi79087.
MalaCardsiALG12.
MIMi607143. phenotype.
OpenTargetsiENSG00000182858.
Orphaneti79324. ALG12-CDG.
PharmGKBiPA134987771.

Polymorphism and mutation databases

BioMutaiALG12.
DMDMi45476971.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002157811 – 488Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferaseAdd BLAST488

Proteomic databases

EPDiQ9BV10.
MaxQBiQ9BV10.
PaxDbiQ9BV10.
PeptideAtlasiQ9BV10.
PRIDEiQ9BV10.

PTM databases

iPTMnetiQ9BV10.
PhosphoSitePlusiQ9BV10.

Expressioni

Tissue specificityi

Expressed in fibroblasts.

Gene expression databases

BgeeiENSG00000182858.
CleanExiHS_ALG12.
ExpressionAtlasiQ9BV10. baseline and differential.
GenevisibleiQ9BV10. HS.

Organism-specific databases

HPAiHPA051665.

Interactioni

Protein-protein interaction databases

BioGridi122535. 9 interactors.
IntActiQ9BV10. 2 interactors.
STRINGi9606.ENSP00000333813.

Structurei

3D structure databases

ProteinModelPortaliQ9BV10.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyltransferase 22 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2516. Eukaryota.
ENOG410XR38. LUCA.
GeneTreeiENSGT00550000075005.
HOGENOMiHOG000265945.
HOVERGENiHBG050486.
InParanoidiQ9BV10.
KOiK03847.
OMAiNWRYDKR.
OrthoDBiEOG091G07LQ.
PhylomeDBiQ9BV10.
TreeFamiTF314453.

Family and domain databases

InterProiIPR005599. GPI_mannosylTrfase.
[Graphical view]
PANTHERiPTHR22760. PTHR22760. 1 hit.
PfamiPF03901. Glyco_transf_22. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9BV10-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:488
Mass (Da):54,655
Last modified:June 1, 2001 - v1
Checksum:i8D4F921C21CBC8B6
GO

Sequence cautioni

The sequence AAM94900 differs from that shown. Reason: Frameshift at position 468.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti267A → T in AAM94900 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01790467T → M in CDG1G. 1 PublicationCorresponds to variant rs121907931dbSNPEnsembl.1
Natural variantiVAR_038428101G → R in CDG1G. 1 PublicationCorresponds to variant rs121907933dbSNPEnsembl.1
Natural variantiVAR_017905142F → V in CDG1G. 1 PublicationCorresponds to variant rs28942090dbSNPEnsembl.1
Natural variantiVAR_017906146R → Q in CDG1G. 2 PublicationsCorresponds to variant rs121907932dbSNPEnsembl.1
Natural variantiVAR_017907158L → P in CDG1G. 1 PublicationCorresponds to variant rs121907934dbSNPEnsembl.1
Natural variantiVAR_024466393I → V.1 PublicationCorresponds to variant rs3922872dbSNPEnsembl.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. Translation: CAO72064.1.
CH471138 Genomic DNA. Translation: EAW73480.1.
BC001729 mRNA. Translation: AAH01729.1.
BC098562 mRNA. Translation: AAH98562.1.
CCDSiCCDS14081.1.
RefSeqiNP_077010.1. NM_024105.3.
UniGeneiHs.526711.

Genome annotation databases

EnsembliENST00000330817; ENSP00000333813; ENSG00000182858.
GeneIDi79087.
KEGGihsa:79087.
UCSCiuc003biy.4. human.

Keywords - Coding sequence diversityi

Polymorphism

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. Translation: CAO72064.1.
CH471138 Genomic DNA. Translation: EAW73480.1.
BC001729 mRNA. Translation: AAH01729.1.
BC098562 mRNA. Translation: AAH98562.1.
CCDSiCCDS14081.1.
RefSeqiNP_077010.1. NM_024105.3.
UniGeneiHs.526711.

3D structure databases

ProteinModelPortaliQ9BV10.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122535. 9 interactors.
IntActiQ9BV10. 2 interactors.
STRINGi9606.ENSP00000333813.

Protein family/group databases

CAZyiGT22. Glycosyltransferase Family 22.

PTM databases

iPTMnetiQ9BV10.
PhosphoSitePlusiQ9BV10.

Polymorphism and mutation databases

BioMutaiALG12.
DMDMi45476971.

Proteomic databases

EPDiQ9BV10.
MaxQBiQ9BV10.
PaxDbiQ9BV10.
PeptideAtlasiQ9BV10.
PRIDEiQ9BV10.

Protocols and materials databases

DNASUi79087.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000330817; ENSP00000333813; ENSG00000182858.
GeneIDi79087.
KEGGihsa:79087.
UCSCiuc003biy.4. human.

Organism-specific databases

CTDi79087.
DisGeNETi79087.
GeneCardsiALG12.
GeneReviewsiALG12.
H-InvDBHIX0175449.
HGNCiHGNC:19358. ALG12.
HPAiHPA051665.
MalaCardsiALG12.
MIMi607143. phenotype.
607144. gene.
neXtProtiNX_Q9BV10.
OpenTargetsiENSG00000182858.
Orphaneti79324. ALG12-CDG.
PharmGKBiPA134987771.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2516. Eukaryota.
ENOG410XR38. LUCA.
GeneTreeiENSGT00550000075005.
HOGENOMiHOG000265945.
HOVERGENiHBG050486.
InParanoidiQ9BV10.
KOiK03847.
OMAiNWRYDKR.
OrthoDBiEOG091G07LQ.
PhylomeDBiQ9BV10.
TreeFamiTF314453.

Enzyme and pathway databases

UniPathwayiUPA00378.
BRENDAi2.4.1.260. 2681.
ReactomeiR-HSA-446193. Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.

Miscellaneous databases

ChiTaRSiALG12. human.
GeneWikiiALG12.
GenomeRNAii79087.
PROiQ9BV10.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000182858.
CleanExiHS_ALG12.
ExpressionAtlasiQ9BV10. baseline and differential.
GenevisibleiQ9BV10. HS.

Family and domain databases

InterProiIPR005599. GPI_mannosylTrfase.
[Graphical view]
PANTHERiPTHR22760. PTHR22760. 1 hit.
PfamiPF03901. Glyco_transf_22. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiALG12_HUMAN
AccessioniPrimary (citable) accession number: Q9BV10
Secondary accession number(s): A6PWM1
, Q4KMH4, Q8NG10, Q96AA4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 15, 2004
Last sequence update: June 1, 2001
Last modified: November 30, 2016
This is version 141 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.