Format

Send to:

Choose Destination

ALG11 ALG11 alpha-1,2-mannosyltransferase [ Homo sapiens (human) ]

Gene ID: 440138, updated on 23-Nov-2021

Summary

Official Symbol
ALG11provided by HGNC
Official Full Name
ALG11 alpha-1,2-mannosyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:32456
See related
Ensembl:ENSG00000253710 MIM:613666
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GT8; CDG1P
Summary
This gene encodes a GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which is localized to the cytosolic side of the endoplasmic reticulum (ER) and catalyzes the transfer of the fourth and fifth mannose residue from GDP-mannose (GDP-Man) to Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol resulting in the production of Man5GlcNAc2-PP-dolichol. Mutations in this gene are associated with congenital disorder of glycosylation type Ip (CDGIP). This gene overlaps but is distinct from the UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) gene. A pseudogene of the GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase has been identified on chromosome 19. [provided by RefSeq, Aug 2010]
Expression
Ubiquitous expression in thyroid (RPKM 12.1), kidney (RPKM 8.8) and 25 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See ALG11 in Genome Data Viewer
Location:
13q14.3
Exon count:
4
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (52012398..52033600)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (52586534..52607736)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene CTAGE family member 3, pseudogene Neighboring gene ATPase copper transporting beta Neighboring gene fatty acid binding protein 5 pseudogene 2 Neighboring gene UTP14C small subunit processome component Neighboring gene NIMA related kinase 5 Neighboring gene Sharpr-MPRA regulatory region 10224 Neighboring gene Sharpr-MPRA regulatory region 2352

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0266

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables alpha-1,2-mannosyltransferase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
involved_in mannosylation IEA
Inferred from Electronic Annotation
more info
 
involved_in oligosaccharide-lipid intermediate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein N-linked glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in membrane HDA PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase
Names
GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog
asparagine-linked glycosylation protein 11 homolog
glycolipid 2-alpha-mannosyltransferase
NP_001004127.2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_028038.1 RefSeqGene

    Range
    5001..22258
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001004127.3NP_001004127.2  GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase

    See identical proteins and their annotated locations for NP_001004127.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (A) represents the longer transcript and encodes the functional protein.
    Source sequence(s)
    AK025456, AL139082, BC142998
    Consensus CDS
    CCDS31977.1
    UniProtKB/Swiss-Prot
    Q2TAA5
    Related
    ENSP00000430236.1, ENST00000521508.2
    Conserved Domains (1) summary
    cd03806
    Location:63480
    GT1_ALG11_like; This family is most closely related to the GT1 family of glycosyltransferases. ALG11 in yeast is involved in adding the final 1,2-linked Man to the Man5GlcNAc2-PP-Dol synthesized on the cytosolic face of the ER. The deletion analysis of ALG11 was shown ...

RNA

  1. NR_036571.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (B) lacks two alternate internal exons, compared to variant A. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant A.
    Source sequence(s)
    AL139082

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    52012398..52033600
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center