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ALG12 ALG12, alpha-1,6-mannosyltransferase [ Homo sapiens (human) ]

Gene ID: 79087, updated on 5-Aug-2018

Summary

Official Symbol
ALG12provided by HGNC
Official Full Name
ALG12, alpha-1,6-mannosyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:19358
See related
Ensembl:ENSG00000182858 MIM:607144; Vega:OTTHUMG00000150289
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
CDG1G; ECM39; hALG12; PP14673
Summary
This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in thyroid (RPKM 10.8), prostate (RPKM 8.3) and 25 other tissues See more
Orthologs

Genomic context

See ALG12 in Genome Data Viewer
Location:
22q13.33
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (49860163..49918469, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (50296852..50312106, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene bromodomain containing 1 Neighboring gene uncharacterized LOC105377205 Neighboring gene atherin-like Neighboring gene zinc finger BED-type containing 4 Neighboring gene uncharacterized LOC107985553 Neighboring gene cysteine rich with EGF like domains 2 Neighboring gene microRNA 6821 Neighboring gene Pim-3 proto-oncogene, serine/threonine kinase

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC3136, MGC111358

Gene Ontology Provided by GOA

Function Evidence Code Pubs
dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
mannosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mannosyltransferase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
dolichol-linked oligosaccharide biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
dolichol-linked oligosaccharide biosynthetic process TAS
Traceable Author Statement
more info
 
mannosylation IEA
Inferred from Electronic Annotation
more info
 
protein N-linked glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein folding NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum NAS
Non-traceable Author Statement
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 

General protein information

Preferred Names
dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase
Names
asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase)
asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)
asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog
asparagine-linked glycosylation protein 12 homolog
dol-P-Man dependent alpha-1,6-mannosyltransferase
dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase
dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase
dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase
mannosyltransferase ALG12 homolog
membrane protein SB87
NP_077010.1
XP_011528673.1
XP_016884425.1
XP_016884426.1

NCBI Reference Sequences (RefSeq)

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_008927.1 RefSeqGene

    Range
    5001..20255
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_024105.3NP_077010.1  dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase

    See identical proteins and their annotated locations for NP_077010.1

    Status: REVIEWED

    Source sequence(s)
    AF318343, BM145575, CB858085
    Consensus CDS
    CCDS14081.1
    UniProtKB/Swiss-Prot
    Q9BV10
    UniProtKB/TrEMBL
    A0A024R4V6
    Related
    ENSP00000333813.5, OTTHUMP00000196969, ENST00000330817.10, OTTHUMT00000317405
    Conserved Domains (1) summary
    cl21590
    Location:19354
    PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

    Range
    49860163..49918469 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028936.1XP_016884425.1  dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase isoform X1

    Conserved Domains (1) summary
    cl21590
    Location:19354
    PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase
  2. XM_017028937.1XP_016884426.1  dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase isoform X2

  3. XM_011530371.2XP_011528673.1  dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase isoform X3

    Conserved Domains (1) summary
    cl21590
    Location:19335
    PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase
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