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

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; AllianceGenome:HGNC:32456
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: mouse all
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Genomic context

Location:: 13q14.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (52012398..52033600)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (51227214..51248416)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (52586534..52607736)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hence, we concluded that there is different transcriptional control mechanism between mALG11 and hALG11
Title: Cloning and transcriptional expression of mouse mannosyltransferase IV/V cDNA, which is involved in the synthesis of lipid-linked oligosaccharides.
After identifying the congenital disorders of glycosylation-Ip index patient, study describe three more cases suffering from an ALG11 deficiency.
Title: Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip.
Deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation.
Title: A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
ALG11-congenital disorder of glycosylation MedGen: C3150913 OMIM: 613661 GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-13764 (e-PCR)
- UniSTS:23579

STS-R36092 (e-PCR)
- UniSTS:30262

RH103804 (e-PCR)
- UniSTS:98129

SHGC-3226 (e-PCR)
- UniSTS:34135

SHGC-8883 (e-PCR)
- UniSTS:3271

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
enables alpha-1,2-mannosyltransferase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in oligosaccharide-lipid intermediate biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein N-linked glycosylation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed

General protein information

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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

EC 2.4.1.131

NCBI Reference Sequences (RefSeq)

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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

NG_028038.2 RefSeqGene

Range

5002..26204

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001004127.3 → NP_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

A5PLP3, B4DKW9, Q2TAA5, Q5TAN9, Q6DKI6, Q96FI7

UniProtKB/TrEMBL

A0A3B3IS90

Related

ENSP00000430236.1, ENST00000521508.2

Conserved Domains (1) summary

cd03806
Location:63 → 480

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

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