ALG1L2 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ALG1L2provided by HGNC
Official Full Name: ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like 2provided by HGNC
Primary source: HGNC:HGNC:37258
See related: Ensembl:ENSG00000251287 AllianceGenome:HGNC:37258
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Predicted to enable mannosyltransferase activity. Predicted to be involved in protein glycosylation. Predicted to be active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
Annotation information: Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
Expression: Low expression observed in reference dataset See more
Orthologs: all
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Genomic context

Location:: 3q22.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (130081831..130098390)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (132825683..132842233)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (129800674..129817233)

Chromosome 3 - NC_000003.12 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?

Submit: New GeneRIF Correction

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

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

SHGC-52066 (e-PCR)
- UniSTS:75526

REN80968 (e-PCR)
- UniSTS:405766

ECD02309 (e-PCR)
- UniSTS:283409

REN80986 (e-PCR)
- UniSTS:405784

REN80998 (e-PCR)
- UniSTS:405796

stSG606397 (e-PCR)
- UniSTS:446010

REN81031 (e-PCR)
- UniSTS:405829

D21S1819 (e-PCR)
- UniSTS:77190

ECD18172 (e-PCR)
- UniSTS:299183

a06503sbk (e-PCR)
- UniSTS:96247

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables mannosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in protein glycosylation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: putative glycosyltransferase ALG1L2

Names: asparagine-linked glycosylation 1-like 2

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.

mRNA and Protein(s)

NM_001136152.1 → NP_001129624.1 putative glycosyltransferase ALG1L2

See identical proteins and their annotated locations for NP_001129624.1

Status: VALIDATED

Description

Transcript Variant: This variant (1, coding) represents the allele encoded by the GRCh38 reference genome and encodes isoform (1).

Source sequence(s)

BC127756, BI833803

UniProtKB/Swiss-Prot

C9J202

UniProtKB/TrEMBL

A0A8V8TLI2

Related

ENSP00000479850.1, ENST00000425059.1

Conserved Domains (1) summary

cl10013
Location:8 → 206

Glycosyltransferase_GTB_type; Glycosyltransferases catalyze the transfer of sugar moieties from activated donor molecules to specific acceptor molecules, forming glycosidic bonds. The acceptor molecule can be a lipid, a protein, a heterocyclic compound, or another carbohydrate ...

RNA

NR_178038.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (1, non-coding) uses the same exon combination as variant (1, coding) but represents the allele present on the T2T-CHM13v2.0 genome assembly. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

CP068275