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Aliases for UAP1L1 Gene

Aliases for UAP1L1 Gene

  • UDP-N-Acetylglucosamine Pyrophosphorylase 1 Like 1 2 3 5
  • EC 2.7.7.23 61
  • EC 2.7.7.27 61
  • EC 2.7.7.- 4
  • EC 2.7.7 61

External Ids for UAP1L1 Gene

Previous GeneCards Identifiers for UAP1L1 Gene

  • GC09P135329
  • GC09P137248
  • GC09P139091
  • GC09P139971
  • GC09P109431

Summaries for UAP1L1 Gene

GeneCards Summary for UAP1L1 Gene

UAP1L1 (UDP-N-Acetylglucosamine Pyrophosphorylase 1 Like 1) is a Protein Coding gene. Among its related pathways are Amino sugar and nucleotide sugar metabolism and Metabolism. GO annotations related to this gene include uridylyltransferase activity. An important paralog of this gene is UAP1.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UAP1L1 Gene

Genomics for UAP1L1 Gene

Regulatory Elements for UAP1L1 Gene

Enhancers for UAP1L1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around UAP1L1 on UCSC Golden Path with GeneCards custom track

Promoters for UAP1L1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around UAP1L1 on UCSC Golden Path with GeneCards custom track

Genomic Location for UAP1L1 Gene

Chromosome:
9
Start:
137,077,465 bp from pter
End:
137,084,539 bp from pter
Size:
7,075 bases
Orientation:
Plus strand

Genomic View for UAP1L1 Gene

Genes around UAP1L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UAP1L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UAP1L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UAP1L1 Gene

Proteins for UAP1L1 Gene

  • Protein details for UAP1L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3KQV9-UAP1L_HUMAN
    Recommended name:
    UDP-N-acetylhexosamine pyrophosphorylase-like protein 1
    Protein Accession:
    Q3KQV9
    Secondary Accessions:
    • A2AMJ8
    • Q5SPZ2
    • Q69YQ3
    • Q6ZR38

    Protein attributes for UAP1L1 Gene

    Size:
    507 amino acids
    Molecular mass:
    57030 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI06036.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAH10651.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=EAW88343.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for UAP1L1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UAP1L1 Gene

Post-translational modifications for UAP1L1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for UAP1L1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for UAP1L1 Gene

Protein Domains for UAP1L1 Gene

Graphical View of Domain Structure for InterPro Entry

Q3KQV9

UniProtKB/Swiss-Prot:

UAP1L_HUMAN :
  • Belongs to the UDPGP type 1 family.
Family:
  • Belongs to the UDPGP type 1 family.
genes like me logo Genes that share domains with UAP1L1: view

No data available for Gene Families for UAP1L1 Gene

Function for UAP1L1 Gene

Enzyme Numbers (IUBMB) for UAP1L1 Gene

Gene Ontology (GO) - Molecular Function for UAP1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003977 UDP-N-acetylglucosamine diphosphorylase activity IBA --
genes like me logo Genes that share ontologies with UAP1L1: view

Phenotypes for UAP1L1 Gene

genes like me logo Genes that share phenotypes with UAP1L1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for UAP1L1 Gene

Localization for UAP1L1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UAP1L1 Gene COMPARTMENTS Subcellular localization image for UAP1L1 gene
Compartment Confidence
cytosol 5
cytoskeleton 2
nucleus 2
extracellular 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for UAP1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IBA --
genes like me logo Genes that share ontologies with UAP1L1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for UAP1L1 Gene

Pathways & Interactions for UAP1L1 Gene

genes like me logo Genes that share pathways with UAP1L1: view

Pathways by source for UAP1L1 Gene

Interacting Proteins for UAP1L1 Gene

Gene Ontology (GO) - Biological Process for UAP1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006048 UDP-N-acetylglucosamine biosynthetic process IBA --
genes like me logo Genes that share ontologies with UAP1L1: view

No data available for SIGNOR curated interactions for UAP1L1 Gene

Drugs & Compounds for UAP1L1 Gene

(1) Drugs for UAP1L1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine triphosphate Experimental Pharma 0

(3) Additional Compounds for UAP1L1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N-Acetyl-glucosamine 1-phosphate
  • D-Glucosamine 1-phosphate
  • delta-Glucosamine 1-phosphate
  • N-Acetyl-alpha-D-glucosamine 1-phosphate
  • N-Acetyl-alpha-delta-glucosamine 1-phosphate
  • N-Acetyl-D-glucosamine 1-phosphate
901851-43-2
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
Uridine diphosphate-N-acetylglucosamine
  • N-[2-[[[5-[(2,4-Dioxo-1H-pyrimidin-1-yl)]-3,4-dihydroxy-tetrahydrofuran-2-yl]methoxy-hydroxy-phosphinoyl]oxy-hydroxy-phosphinoyl]oxy-4,5-dihydroxy-6-(hydroxymethyl)tetrahydropyran-3-yl]acetamide
  • UDP-a-D-N-Acetylglucosamine
  • UDP-Acetyl-D-glucosamine
  • UDP-Acetyl-delta-glucosamine
  • UDP-Acetylglucosamine
528-04-1
genes like me logo Genes that share compounds with UAP1L1: view

Transcripts for UAP1L1 Gene

Unigene Clusters for UAP1L1 Gene

UDP-N-acteylglucosamine pyrophosphorylase 1-like 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for UAP1L1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1:
SP2:
SP3:
SP4: -

Relevant External Links for UAP1L1 Gene

GeneLoc Exon Structure for
UAP1L1
ECgene alternative splicing isoforms for
UAP1L1

Expression for UAP1L1 Gene

mRNA expression in normal human tissues for UAP1L1 Gene

Protein differential expression in normal tissues from HIPED for UAP1L1 Gene

This gene is overexpressed in Tlymphocyte (18.8), Lymph node (10.3), and Monocytes (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UAP1L1 Gene



Protein tissue co-expression partners for UAP1L1 Gene

NURSA nuclear receptor signaling pathways regulating expression of UAP1L1 Gene:

UAP1L1

SOURCE GeneReport for Unigene cluster for UAP1L1 Gene:

Hs.142076
genes like me logo Genes that share expression patterns with UAP1L1: view

Primer 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 UAP1L1 Gene

Orthologs for UAP1L1 Gene

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

Orthologs for UAP1L1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia UAP1L1 34
  • 85.43 (n)
  • 84.03 (a)
UAP1L1 35
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UAP1L1 34
  • 85.02 (n)
  • 84.69 (a)
-- 35
  • 82 (a)
OneToMany
-- 35
  • 83 (a)
OneToMany
-- 35
  • 85 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Uap1l1 34
  • 83 (n)
  • 83.4 (a)
Uap1l1 16
Uap1l1 35
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UAP1L1 34
  • 99.74 (n)
  • 99.8 (a)
UAP1L1 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Uap1l1 34
  • 83 (n)
  • 83.4 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia UAP1L1 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves UAP1L1 34
  • 72.87 (n)
  • 70.85 (a)
UAP1L1 35
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UAP1L1 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia uap1l1 34
  • 69.82 (n)
  • 67.2 (a)
zebrafish
(Danio rerio)
Actinopterygii uap1l1 34
  • 66.2 (n)
  • 65.86 (a)
zgc56509 34
uap1l1 35
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta mmy 35
  • 47 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C36A4.4 35
  • 35 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes QRI1 35
  • 38 (a)
OneToMany
Species where no ortholog for UAP1L1 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • wheat (Triticum aestivum)

Evolution for UAP1L1 Gene

ENSEMBL:
Gene Tree for UAP1L1 (if available)
TreeFam:
Gene Tree for UAP1L1 (if available)

Paralogs for UAP1L1 Gene

Paralogs for UAP1L1 Gene

(1) SIMAP similar genes for UAP1L1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with UAP1L1: view

Variants for UAP1L1 Gene

Sequence variations from dbSNP and Humsavar for UAP1L1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs7037849 - 137,079,368(+) ACGTG(C/T)CTCCG reference, missense
rs1122444 - 137,080,081(+) TAAAG(C/T)CGCTA reference, missense
rs7851870 -- 137,082,899(+) GAACA(A/C)AGAAT downstream-variant-500B, utr-variant-3-prime
rs7857991 -- 137,075,878(+) tagag(A/T)caggg upstream-variant-2KB
rs7861749 -- 137,076,028(+) cgctc(G/T)gtcac upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for UAP1L1 Gene

Variant ID Type Subtype PubMed ID
dgv13007n54 CNV loss 21841781
esv1002686 CNV gain 20482838
esv2422220 CNV deletion 17116639
esv2761561 CNV gain 21179565
nsv1076223 CNV deletion 25765185
nsv469918 CNV loss 18288195
nsv524322 CNV loss 19592680
nsv527575 CNV loss 19592680
nsv616005 CNV loss 21841781
nsv616006 CNV loss 21841781
nsv616007 CNV loss 21841781
nsv825183 CNV gain 20364138
nsv831761 CNV loss 17160897
nsv951206 CNV deletion 24416366

Variation tolerance for UAP1L1 Gene

Residual Variation Intolerance Score: 41.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.90; 87.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UAP1L1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UAP1L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UAP1L1 Gene

Disorders for UAP1L1 Gene

Relevant External Links for UAP1L1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UAP1L1

No disorders were found for UAP1L1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for UAP1L1 Gene

Publications for UAP1L1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65
  2. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3 65
  3. Initial characterization of the human central proteome. (PMID: 21269460) Burkard T.R. … Colinge J. (BMC Syst. Biol. 2011) 4 65
  4. The full-ORF clone resource of the German cDNA consortium. (PMID: 17974005) Bechtel S. … Schupp I. (BMC Genomics 2007) 4 65
  5. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 4 65

Products for UAP1L1 Gene

Sources for UAP1L1 Gene

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