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The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008] See more...
Aliases for ALG1 Gene
Aliases for ALG1 Gene
- ALG1 Chitobiosyldiphosphodolichol Beta-Mannosyltransferase 2 3 5
- HMAT1 2 3 4
- Asparagine-Linked Glycosylation 1 Homolog (Yeast, Beta-1,4-Mannosyltransferase) 2 3
- GDP-Mannose-Dolichol Diphosphochitobiose Mannosyltransferase 3 4
- Chitobiosyldiphosphodolichol Beta-Mannosyltransferase 3 4
- Asparagine-Linked Glycosylation Protein 1 Homolog 3 4
- GDP-Man:GlcNAc2-PP-Dolichol Mannosyltransferase 3 4
- Beta-1,4-Mannosyltransferase 3 4
- Mannosyltransferase-1 3 4
- EC 2.4.1.142 4 51
External Ids for ALG1 Gene
- HGNC: 18294
- Entrez Gene: 56052
- Ensembl: ENSG00000033011
- OMIM: 605907
- UniProtKB: Q9BT22
Previous GeneCards Identifiers for ALG1 Gene
- GC16P005122
- GC16P005061
- GC16P005121
Summaries for ALG1 Gene
-
The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]
GeneCards Summary for ALG1 Gene
ALG1 (ALG1 Chitobiosyldiphosphodolichol Beta-Mannosyltransferase) is a Protein Coding gene. Diseases associated with ALG1 include Congenital Disorder Of Glycosylation, Type Ik and Nephrotic Syndrome, Type 1. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and chitobiosyldiphosphodolichol beta-mannosyltransferase activity. An important paralog of this gene is ALG1L2.
UniProtKB/Swiss-Prot Summary for ALG1 Gene
-
Participates in the formation of the lipid-linked precursor oligosaccharide for N-glycosylation. Involved in assembling the dolichol-pyrophosphate-GlcNAc(2)-Man(5) intermediate on the cytoplasmic surface of the ER.
Additional gene information for ALG1 Gene
- HGNC(18294)
- Entrez Gene(56052)
- Ensembl(ENSG00000033011)
- OMIM(605907)
- UniProtKB(Q9BT22)
- Open Targets Platform(ENSG00000033011)
- Monarch Initiative
- Search for ALG1 at DataMed
- Search for ALG1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ALG1 Gene
Genomics for ALG1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ALG1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ALG1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ALG1
- Top Transcription factor binding sites by QIAGEN in the ALG1 gene promoter:
-
- STAT1alpha
- STAT1beta
- STAT2
- STAT3
- STAT4
- STAT5A
- STAT5B
- STAT6
- XBP-1
- Zic1
Genomic Locations for ALG1 Gene
Genomic Locations for ALG1 Gene
- chr16:5,033,923-5,087,379
- (GRCh38/hg38)
- Size:
- 53,457 bases
- Orientation:
- Plus strand
- chr16:5,083,703-5,137,380
- (GRCh37/hg19)
- Size:
- 53,678 bases
- Orientation:
- Plus strand
Genomic View for ALG1 Gene
Genes around ALG1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16p13.3 by HGNC
- 16p13.3 by Entrez Gene
- 16p13.3 by Ensembl
ALG1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ALG1 Gene
Proteins for ALG1 Gene
-
Protein details for ALG1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9BT22-ALG1_HUMAN
- Recommended name:
- Chitobiosyldiphosphodolichol beta-mannosyltransferase
- Protein Accession:
- Q9BT22
- B4DP08
- Q6UVZ9
- Q8N5Y4
- Q9P2Y2
Protein attributes for ALG1 Gene
- Size:
- 464 amino acids
- Molecular mass:
- 52518 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=AAQ89432.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for ALG1 Gene
Selected DME Specific Peptides for ALG1 Gene
- Q9BT22:
-
- DEDFSILL
- PALLVSST
Post-translational modifications for ALG1 Gene
Other Protein References for ALG1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-ALG1 (aa 76-97) polyclonal antibody
- Creative Biolabs Rabbit Anti-ALG1 Recombinant Antibody (CBYC-A533)
- Novus Biologicals Antibodies for ALG1
-
Abcam antibodies for ALG1
- Invitrogen Antibodies for ALG1 (AFLGC-ALG1)
-
Boster Bio Antibodies for ALG1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for ALG1
- Origene Custom Protein Services for ALG1
- antibodies-online: Show 9 available ALG1 Proteins ranked by validation data
- Compare Top ALG1 Proteins
-
Quality Products:
-
Abcam proteins for ALG1
Domains & Families for ALG1 Gene
Gene Families for ALG1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for ALG1 Gene
- InterPro:
- Blocks:
-
- Glycosyl transferase, group 1
- ProtoNet:
Suggested Antigen Peptide Sequences for ALG1 Gene
- GenScript: Design optimal peptide antigens:
-
- Mannosyltransferase-1 (ALG1_HUMAN)
- cDNA FLJ61145, highly similar to Chitobiosyldiphosphodolichol beta-mannosyltransferase (EC 2.4.1.142) (B4DP08_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9BT22UniProtKB/Swiss-Prot:
ALG1_HUMAN :- Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 33 subfamily.
- Family:
-
- Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 33 subfamily.
Function for ALG1 Gene
Molecular function for ALG1 Gene
- UniProtKB/Swiss-Prot Function:
- Participates in the formation of the lipid-linked precursor oligosaccharide for N-glycosylation. Involved in assembling the dolichol-pyrophosphate-GlcNAc(2)-Man(5) intermediate on the cytoplasmic surface of the ER.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=GDP-alpha-D-mannose + N,N'-diacetylchitobiosyl diphosphodolichol = beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-alpha-D-GlcNAc-diphosphodolichol + GDP + H(+); Xref=Rhea:RHEA:13865, Rhea:RHEA-COMP:9520, Rhea:RHEA-COMP:11044, ChEBI:CHEBI:15378, ChEBI:CHEBI:57269, ChEBI:CHEBI:57527, ChEBI:CHEBI:58189, ChEBI:CHEBI:58472; EC=2.4.1.142;.
Enzyme Numbers (IUBMB) for ALG1 Gene
Phenotypes From GWAS Catalog for ALG1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000030 | mannosyltransferase activity | TAS,IBA | 21873635 |
| GO:0004578 | chitobiosyldiphosphodolichol beta-mannosyltransferase activity | TAS | -- |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0016757 | transferase activity, transferring glycosyl groups | IEA | -- |
Phenotypes for ALG1 Gene
- MGI mutant phenotypes for ALG1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ALG1:
-
- no effect
- Decreased viability
- Decreased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Decreased shRNA abundance (Z-score < -2)
- shRNA abundance <= 25%
- Increased shRNA abundance (Z-score > 2)
- Increased transferrin (TF) endocytosis
- Inconclusive
- Decreased homologous recombination repair frequency
- Decreased shRNA abundance
Animal Models for ALG1 Gene
- MGI Knock Outs for ALG1:
-
- Alg1 Alg1<tm1b(KOMP)Wtsi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ALG1 - Select products 50% OFF >
- * ALG1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ALG1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ALG1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ALG1
miRNA for ALG1 Gene
- miRTarBase miRNAs that target ALG1
-
- hsa-miR-24-3p (MIRT030572)
- hsa-miR-19a-3p (MIRT284268)
- hsa-miR-19b-3p (MIRT284269)
- hsa-miR-424-3p (MIRT284270)
- hsa-miR-2113 (MIRT284273)
- hsa-miR-5096 (MIRT519096)
- hsa-miR-5089-5p (MIRT519098)
- hsa-miR-3187-3p (MIRT519099)
- hsa-miR-4435 (MIRT519100)
- hsa-miR-588 (MIRT519101)
- hsa-miR-4701-5p (MIRT519102)
- hsa-miR-548s (MIRT519103)
- hsa-miR-197-3p (MIRT519104)
- hsa-miR-6832-5p (MIRT519105)
- hsa-miR-4732-5p (MIRT519106)
- hsa-miR-876-5p (MIRT519107)
- hsa-miR-3167 (MIRT519108)
- hsa-miR-4755-3p (MIRT519109)
- hsa-miR-1273f (MIRT519110)
- hsa-miR-4716-5p (MIRT519111)
- hsa-miR-4781-3p (MIRT519112)
- hsa-miR-3679-3p (MIRT552040)
- hsa-miR-6844 (MIRT552041)
- hsa-miR-4465 (MIRT552042)
- hsa-miR-26b-5p (MIRT552043)
- hsa-miR-26a-5p (MIRT552044)
- hsa-miR-1297 (MIRT552045)
- hsa-miR-642b-5p (MIRT552046)
- hsa-miR-223-5p (MIRT552047)
- hsa-miR-361-3p (MIRT552048)
- hsa-miR-1250-3p (MIRT552049)
- hsa-miR-5697 (MIRT552050)
- hsa-miR-1322 (MIRT552051)
- hsa-miR-1272 (MIRT552052)
- hsa-miR-548x-3p (MIRT552053)
- hsa-miR-548j-3p (MIRT552054)
- hsa-miR-548aq-3p (MIRT552055)
- hsa-miR-548am-3p (MIRT552056)
- hsa-miR-548aj-3p (MIRT552057)
- hsa-miR-548ah-3p (MIRT552058)
- hsa-miR-548ae-3p (MIRT552059)
- hsa-miR-548z (MIRT552060)
- hsa-miR-548h-3p (MIRT552061)
- hsa-miR-548d-3p (MIRT552062)
- hsa-miR-548bb-3p (MIRT552063)
- hsa-miR-548ac (MIRT552064)
- hsa-miR-5698 (MIRT677615)
- hsa-miR-6783-3p (MIRT677616)
- hsa-miR-1343-3p (MIRT677617)
- hsa-miR-891a-3p (MIRT677618)
- hsa-miR-143-5p (MIRT677619)
- hsa-miR-504-3p (MIRT677620)
- hsa-miR-4772-3p (MIRT677621)
- hsa-miR-6787-3p (MIRT677622)
- hsa-miR-1304-3p (MIRT677623)
- hsa-miR-6742-3p (MIRT677624)
- hsa-miR-6852-5p (MIRT677625)
- hsa-miR-939-3p (MIRT677626)
- hsa-miR-660-3p (MIRT677627)
- hsa-miR-5693 (MIRT677628)
- hsa-miR-6736-3p (MIRT677629)
- hsa-miR-6890-3p (MIRT677630)
- hsa-miR-1306-5p (MIRT677631)
- hsa-miR-216a-5p (MIRT677632)
- hsa-miR-122-5p (MIRT678756)
- hsa-miR-3135b (MIRT678757)
- hsa-miR-6499-3p (MIRT678758)
- hsa-miR-4684-5p (MIRT696134)
- hsa-miR-7155-3p (MIRT696135)
- hsa-miR-4662a-5p (MIRT696136)
- hsa-miR-3136-3p (MIRT696137)
- hsa-miR-4717-3p (MIRT696138)
- hsa-miR-3675-3p (MIRT696139)
- hsa-miR-6771-3p (MIRT696140)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ALG1
- Browse OriGene Inhibitory RNA Products For ALG1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALG1
Clone Products
- Applied Biological Materials (abm): Clones for ALG1 - Select products 50% OFF >
- * ALG1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ALG1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ALG1
No data available for Transcription Factor Targets and HOMER Transcription for ALG1 Gene
Localization for ALG1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ALG1 Gene
- Endoplasmic reticulum membrane. Single-pass type II membrane protein.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 4 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytosol | 2 |
| golgi apparatus | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| endosome | 1 |
| lysosome | 1 |
| peroxisome | 0 |
- Endoplasmic reticulum (2)
- Nucleoli fibrillar center (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005783 | endoplasmic reticulum | TAS,IBA | 21873635 |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0016020 | membrane | IEA,HDA | 19946888 |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for ALG1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | N-Glycan biosynthesis | ||
| 2 | Metabolism of proteins | ||
| 3 | Metabolism | ||
| 4 | Transport to the Golgi and subsequent modification | ||
| 5 | Synthesis of substrates in N-glycan biosythesis | ||
Pathways by source for ALG1 Gene
1 BioSystems pathway for ALG1 Gene
3 KEGG pathways for ALG1 Gene
UniProtKB/Swiss-Prot Q9BT22-ALG1_HUMAN
- Pathway: Protein modification; protein glycosylation.
Interacting Proteins for ALG1 Gene
GPS-Prot Interaction Network for ALG1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006486 | protein glycosylation | TAS,IDA | 26931382 |
| GO:0006488 | dolichol-linked oligosaccharide biosynthetic process | TAS | -- |
| GO:0097502 | mannosylation | IEA | -- |
No data available for SIGNOR curated interactions for ALG1 Gene
Drugs & Compounds for ALG1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Guanosine diphosphate | Experimental | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| (N-Acetylglucosaminyl)2-diphosphodolichol |
|
|
||||
| Beta-1,4-D-Mannosylchitobiosyldiphosphodolichol |
|
|
||||
| Guanosine diphosphate mannose |
|
3123-67-9 |
|
|||
| N,N'-Diacetylchitobiosyldiphosphodolichol |
|
|
Transcripts for ALG1 Gene
mRNA/cDNA for ALG1 Gene
- 2 REFSEQ mRNAs :
- 15 NCBI additional mRNA sequence :
- 9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000262374 3900 nts (view in UCSC)
- ENST00000544428 1419 nts (view in UCSC)
- ENST00000586840 582 nts (view in UCSC)
- ENST00000588623 2671 nts (view in UCSC)
- ENST00000591783 742 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ALG1 - Select products 50% OFF >
- * ALG1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ALG1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ALG1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ALG1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ALG1
- Browse OriGene Inhibitory RNA Products For ALG1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALG1
Clone Products
- Applied Biological Materials (abm): Clones for ALG1 - Select products 50% OFF >
- * ALG1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ALG1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ALG1
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | ||||||||||||||||||||||||||
| SP5: | - | - | - | ||||||||||||||||||||||||||||
| SP6: | - | - |
Relevant External Links for ALG1 Gene
- GeneLoc Exon Structure for
- ALG1
Expression for ALG1 Gene
This gene is overexpressed in Peripheral blood mononuclear cells (10.4), Adrenal (9.1), and Bone (7.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ALG1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ALG1
SOURCE GeneReport for Unigene cluster for ALG1 Gene:
Hs.592086Evidence on tissue expression from TISSUES for ALG1 Gene
- Nervous system(4.8)
- Kidney(2.1)
- Skin(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ALG1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- chin
- ear
- eye
- face
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- pituitary gland
- skull
Thorax:
- breast
- heart
- heart valve
Abdomen:
- kidney
- liver
- spleen
Pelvis:
- ovary
- penis
- placenta
- prostate
- testicle
- ureter
- urinary bladder
- uterus
- vagina
- vulva
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- blood
- blood vessel
- hair
- peripheral nerve
- peripheral nervous system
- skin
Primer Products
-
OriGene qPCR primer pairs for ALG1
-
OriGene qPCR primer pairs and template standards for ALG1
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ALG1 Gene
Orthologs for ALG1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ALG1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ALG1 30 |
|
||
| -- 31 |
|
OneToMany | |||
| Cow (Bos Taurus) |
Mammalia | ALG1 30 31 |
|
OneToMany | |
| Mouse (Mus musculus) |
Mammalia | Alg1 30 17 31 |
|
OneToMany | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| Chicken (Gallus gallus) |
Aves | ALG1 30 |
|
||
| -- 31 |
|
OneToMany | |||
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | alg1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | alg1 30 31 |
|
OneToMany | |
| -- 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG18012 30 31 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003551 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | T26A5.4 30 31 |
|
OneToMany | |
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ADL338C 30 |
|
||
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0B09405g 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ALG1 30 31 33 |
|
OneToMany | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G16570 30 |
|
||
| Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.5786 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os03g0180700 30 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU07261 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | alg1 30 |
|
- Species where no ortholog for ALG1 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- 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 Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for ALG1 Gene
- ENSEMBL:
- Gene Tree for ALG1 (if available)
- TreeFam:
- Gene Tree for ALG1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ALG1: view image
Paralogs for ALG1 Gene
(3) SIMAP similar genes for ALG1 Gene using alignment to 5 proteins:
- ALG1_HUMAN
- B4DP08_HUMAN
- K7EID2_HUMAN
- K7EPU3_HUMAN
- K7EQK1_HUMAN
Pseudogenes.org Pseudogenes for ALG1 Gene
Variants for ALG1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ALG1 Gene
| SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 639433 | Uncertain Significance: ALG1-CDG | 5,078,782(+) | G/A | MISSENSE_VARIANT | |
| 653599 | Pathogenic: ALG1-CDG | 5,081,042(+) | AC/A | FRAMESHIFT_VARIANT | |
| 654182 | Uncertain Significance: ALG1-CDG | 5,077,509(+) | G/T | MISSENSE_VARIANT | |
| 681426 | Likely Benign: not provided | 5,075,375(+) | C/G | INTRON_VARIANT | |
| 682375 | Likely Benign: not provided | 5,077,554(+) | C/T | INTRON_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2422516 | CNV | deletion | 17116639 |
| esv25186 | CNV | gain | 19812545 |
| esv2760069 | CNV | gain+loss | 17122850 |
| esv34300 | CNV | gain | 17911159 |
| esv3581945 | CNV | loss | 25503493 |
| esv3637713 | CNV | gain | 21293372 |
| esv3637714 | CNV | gain | 21293372 |
| esv3637718 | CNV | loss | 21293372 |
| nsv1038475 | CNV | gain | 25217958 |
| nsv1039432 | CNV | loss | 25217958 |
| nsv1042612 | CNV | loss | 25217958 |
| nsv1046986 | CNV | gain | 25217958 |
| nsv1052766 | CNV | loss | 25217958 |
| nsv1722 | CNV | deletion | 18451855 |
| nsv428318 | CNV | gain | 18775914 |
| nsv457360 | CNV | loss | 19166990 |
| nsv482188 | CNV | gain | 20164927 |
| nsv482189 | CNV | gain | 20164927 |
| nsv571303 | CNV | loss | 21841781 |
| nsv571304 | CNV | loss | 21841781 |
| nsv817715 | CNV | gain | 17921354 |
| nsv952909 | CNV | deletion | 24416366 |
| nsv977106 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
6.07;
75.28% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ALG1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALG1 Gene
Disorders for ALG1 Gene
(10) MalaCards diseases for ALG1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| congenital disorder of glycosylation, type ik |
|
|
| nephrotic syndrome, type 1 |
|
|
| congenital disorder of glycosylation, type in |
|
|
| congenital disorders of n-linked glycosylation and multiple pathway |
|
|
| immunodeficiency 47 |
|
|
Search ALG1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ALG1_HUMAN- Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269 PubMed:14709599, ECO:0000269 PubMed:14973778, ECO:0000269 PubMed:14973782, ECO:0000269 PubMed:26931382}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for ALG1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for ALG1 Gene
Publications for ALG1 Gene
- Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I. (PMID: 14973782) Kranz C … Marquardt T (American journal of human genetics 2004) 2 3 4 23
- Cloning of the human cDNA which can complement the defect of the yeast mannosyltransferase I-deficient mutant alg 1. (PMID: 10704531) Takahashi T … Nishikawa Y (Glycobiology 2000) 2 3 4 23
- Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. (PMID: 14709599) Grubenmann CE … Hennet T (Human molecular genetics 2004) 3 4 23
- ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. (PMID: 26931382) Ng BG … Freeze HH (Human mutation 2016) 3 4
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
ExternalLinks
Products for ALG1 Gene
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Sources for ALG1 Gene
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