Aliases for ALG1L Gene

Aliases for ALG1L Gene

  • ALG1 Chitobiosyldiphosphodolichol Beta-Mannosyltransferase Like 2 3 5
  • Asparagine-Linked Glycosylation 1-Like 1 2 3
  • Putative Glycosyltransferase ALG1-Like 3 4
  • Asparagine-Linked Glycosylation 1-Like 2
  • Beta-1,4-Mannosyltransferase-Like 3
  • EC 2.4.1.- 4
  • ALG1L1 3

External Ids for ALG1L Gene

Previous GeneCards Identifiers for ALG1L Gene

  • GC03M127131
  • GC03M125648
  • GC03M123028

Summaries for ALG1L Gene

GeneCards Summary for ALG1L Gene

ALG1L (ALG1 Chitobiosyldiphosphodolichol Beta-Mannosyltransferase Like) is a Protein Coding gene. Diseases associated with ALG1L include Glycogen Storage Disease Iii. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and mannosyltransferase activity. An important paralog of this gene is ALG1.

UniProtKB/Swiss-Prot Summary for ALG1L Gene

Additional gene information for ALG1L Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ALG1L Gene

Genomics for ALG1L Gene

GeneHancer (GH) Regulatory Elements for ALG1L Gene

Promoters and enhancers for ALG1L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J125989 Promoter/Enhancer 1.8 EPDnew FANTOM5 ENCODE CraniofacialAtlas 543.7 -38.5 -38509 1.7 ZBTB40 POLR2G PHF8 ZFX POLR2A ZBTB11 GABPA ZBTB26 MXI1 OSR2 ALG1L lnc-ROPN1B-15 piR-49059 FAM86JP ROPN1B SLC41A3 CFAP100 ZXDC
GH03J125937 Promoter 1.2 EPDnew Ensembl 500.4 +15.1 15098 0.8 ZNF217 CTCF CLOCK CTBP1 ZNF341 YY1 ZFHX2 FOXA1 ZBTB48 DPF2 ALG1L FAM86JP ROPN1B LINC02614 piR-54297-002
GH03J126081 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 31.4 -131.2 -131172 3.9 HNRNPK EP300 CTCF POLR2G PHF8 ZFX ZIC2 POLR2A ZBTB11 ZNF423 SLC41A3 ENSG00000250012 LOC105374085 FAM86JP ALG1L RF01061-121
GH03J126055 Enhancer 1 Ensembl ENCODE 43.3 -105.9 -105861 4.1 POLR2G REST ZBTB25 TOE1 EP300 SKI TEAD1 ZSCAN9 SMARCC1 GABPA ENSG00000248607 ALG1L FAM86JP SLC41A3 ALDH1L1-AS1 OR7E29P piR-38257-012
GH03J126099 Enhancer 0.8 Ensembl ENCODE 32.7 -149.6 -149568 3.5 ZIC2 TRIM28 BCL11A TCF12 WT1 CEBPG CEBPB MEF2B BATF IRF4 SLC41A3 ALDH1L1-AS1 FAM86JP ALG1L ROPN1B LINC02614
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ALG1L on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ALG1L

Top Transcription factor binding sites by QIAGEN in the ALG1L gene promoter:
  • AhR
  • AP-1
  • Arnt
  • COMP1
  • Evi-1
  • p53
  • POU3F2
  • STAT5A

Genomic Locations for ALG1L Gene

Genomic Locations for ALG1L Gene
chr3:125,928,840-125,952,098
(GRCh38/hg38)
Size:
23,259 bases
Orientation:
Minus strand
chr3:125,648,118-125,655,887
(GRCh37/hg19)
Size:
7,770 bases
Orientation:
Minus strand

Genomic View for ALG1L Gene

Genes around ALG1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALG1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALG1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALG1L Gene

Proteins for ALG1L Gene

  • Protein details for ALG1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6GMV1-ALG1L_HUMAN
    Recommended name:
    Putative glycosyltransferase ALG1-like
    Protein Accession:
    Q6GMV1
    Secondary Accessions:
    • D3DNA5

    Protein attributes for ALG1L Gene

    Size:
    187 amino acids
    Molecular mass:
    21132 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ALG1L Gene

Post-translational modifications for ALG1L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ALG1L Gene

Domains & Families for ALG1L Gene

Gene Families for ALG1L Gene

Protein Domains for ALG1L Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ALG1L Gene

GenScript: Design optimal peptide antigens:
  • Putative glycosyltransferase ALG1-like (ALG1L_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6GMV1

UniProtKB/Swiss-Prot:

ALG1L_HUMAN :
  • Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 33 subfamily.
Family:
  • Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 33 subfamily.
genes like me logo Genes that share domains with ALG1L: view

Function for ALG1L Gene

Molecular function for ALG1L Gene

UniProtKB/Swiss-Prot Function:
Putative glycosyltransferase.

Enzyme Numbers (IUBMB) for ALG1L Gene

Phenotypes From GWAS Catalog for ALG1L Gene

Gene Ontology (GO) - Molecular Function for ALG1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000030 mannosyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with ALG1L: view
genes like me logo Genes that share phenotypes with ALG1L: view

Animal Model Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ALG1L Gene

Localization for ALG1L Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALG1L gene
Compartment Confidence
endoplasmic reticulum 3
plasma membrane 1
extracellular 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ALG1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA 21873635
genes like me logo Genes that share ontologies with ALG1L: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for ALG1L Gene

Pathways & Interactions for ALG1L Gene

PathCards logo

SuperPathways for ALG1L Gene

No Data Available

Interacting Proteins for ALG1L Gene

;

Gene Ontology (GO) - Biological Process for ALG1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IBA 21873635
GO:0097502 mannosylation IEA --
genes like me logo Genes that share ontologies with ALG1L: view

No data available for Pathways by source and SIGNOR curated interactions for ALG1L Gene

Drugs & Compounds for ALG1L Gene

No Compound Related Data Available

Transcripts for ALG1L Gene

mRNA/cDNA for ALG1L Gene

2 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALG1L Gene

No ASD Table

Relevant External Links for ALG1L Gene

GeneLoc Exon Structure for
ALG1L

Expression for ALG1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ALG1L Gene

mRNA differential expression in normal tissues according to GTEx for ALG1L Gene

This gene is overexpressed in Bladder (x6.1).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ALG1L

SOURCE GeneReport for Unigene cluster for ALG1L Gene:

Hs.591299

Evidence on tissue expression from TISSUES for ALG1L Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with ALG1L: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ALG1L Gene

Orthologs for ALG1L Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ALG1L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALG1L 31 30
  • 97.58 (n)
OneToOne
dog
(Canis familiaris)
Mammalia -- 31
  • 28 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ALG1 31
  • 27 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Alg1 31
  • 26 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 25 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 31
  • 23 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 23 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii alg1 31
  • 21 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG18012 31
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T26A5.4 31
  • 13 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALG1 31
  • 13 (a)
OneToMany
Species where no ortholog for ALG1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ALG1L Gene

ENSEMBL:
Gene Tree for ALG1L (if available)
TreeFam:
Gene Tree for ALG1L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ALG1L: view image

Paralogs for ALG1L Gene

Paralogs for ALG1L Gene

(2) SIMAP similar genes for ALG1L Gene using alignment to 1 proteins:

  • ALG1L_HUMAN
genes like me logo Genes that share paralogs with ALG1L: view

Variants for ALG1L Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ALG1L Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs3187686 - p.Gly184Ser
rs3811679 - p.Ile159Thr
rs3828357 - p.Asn135Asp

Additional dbSNP identifiers (rs#s) for ALG1L Gene

Structural Variations from Database of Genomic Variants (DGV) for ALG1L Gene

Variant ID Type Subtype PubMed ID
esv2759174 CNV loss 17122850
nsv1011457 CNV gain 25217958
nsv1160975 CNV duplication 26073780
nsv591465 CNV gain 21841781
nsv829716 CNV gain+loss 17160897
nsv967058 CNV duplication 23825009

Variation tolerance for ALG1L Gene

Residual Variation Intolerance Score: 91.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.11; 90.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALG1L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALG1L

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALG1L Gene

Disorders for ALG1L Gene

MalaCards: The human disease database

(1) MalaCards diseases for ALG1L Gene - From: DISEASES

Disorder Aliases PubMed IDs
glycogen storage disease iii
  • gsd3
- elite association - COSMIC cancer census association via MalaCards
Search ALG1L in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ALG1L

genes like me logo Genes that share disorders with ALG1L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ALG1L Gene

Publications for ALG1L Gene

  1. Gene-smoking interactions identify several novel blood pressure loci in the Framingham Heart Study. (PMID: 25189868) Sung YJ … Rao DC (American journal of hypertension 2015) 3 54
  2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54
  3. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny DM … Gibbs RA (Nature 2006) 4 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 54
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 54

Products for ALG1L Gene

Sources for ALG1L Gene