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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 56
  • EC 2.7.7.27 56
  • EC 2.7.7.- 4
  • EC 2.7.7 56

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. Gene Ontology (GO) annotations related to this gene include uridylyltransferase activity. An important paralog of this gene is UAP1.

Additional gene information for UAP1L1 Gene

No data available for Entrez Gene Summary , CIViC 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

GeneHancer (GH) Regulatory Elements for UAP1L1 Gene

Promoters and enhancers for UAP1L1 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
GH09I137076 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 601.6 +0.2 208 1.8 SIN3A ZNF48 ZNF335 GLIS2 ZNF143 EGR2 SMARCA5 SP5 ZBTB11 SP1 UAP1L1 DPH7 INPP5E ARRDC1-AS1 EXD3 SNAPC4 ANAPC2 QSOX2 MAN1B1 CCDC183-AS1
GH09I137078 Enhancer 0.5 ENCODE 550.8 +1.4 1419 0.2 USF1 ZBTB33 KLF8 EZH2 UAP1L1 PIR60888
GH09I137079 Enhancer 0.5 ENCODE 550.8 +1.7 1669 0 POLR2A ZBTB33 KLF8 EZH2 UAP1L1 SAPCD2 PIR60888
GH09I137080 Enhancer 0.5 ENCODE 550.8 +1.6 1592 0.1 POLR2A ZBTB33 KLF8 EZH2 UAP1L1 PIR60888
GH09I137113 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 33.6 +37.2 37223 1.8 HDGF CLOCK ATF1 SIN3A GLIS2 FOS ATF7 DEK ZNF263 REST DPP7 UAP1L1 MAN1B1 SNHG7 DPH7 EXD3 SDCCAG3 EHMT1 ANAPC2 INPP5E
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around UAP1L1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UAP1L1 gene promoter:

Genomic Locations for UAP1L1 Gene

Genomic Locations for UAP1L1 Gene
chr9:137,077,465-137,084,539
(GRCh38/hg38)
Size:
7,075 bases
Orientation:
Plus strand
chr9:139,971,953-139,978,991
(GRCh37/hg19)

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

Selected DME Specific Peptides for UAP1L1 Gene

Q3KQV9:
  • EFSPLKN
  • AGNICNHFFT
  • ADPVFIGF
  • MTSEFTLGPT
  • YCVDNIL
  • ADCGAKVV
  • VAVLLLAGGQ
  • VVEYSEIS
  • LAGGQGTRLGV
  • GADCGAKVVEK

Post-translational modifications for UAP1L1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for UAP1L1 Gene

Domains & Families for UAP1L1 Gene

Gene Families for UAP1L1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

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 --
GO:0016740 transferase activity IEA --
GO:0016779 nucleotidyltransferase activity IEA --
GO:0070569 uridylyltransferase activity IEA --
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

Clone Products

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

Localization for UAP1L1 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 UAP1L1 gene
Compartment Confidence
cytosol 5
cytoskeleton 2
nucleus 2
extracellular 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Intermediate filaments (2)
See all subcellular structures

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

Gene Ontology (GO) - Biological Process for UAP1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006048 UDP-N-acetylglucosamine biosynthetic process IBA --
GO:0008152 metabolic process IEA --
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, Investigational 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
6866-69-9
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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Evidence on tissue expression from TISSUES for UAP1L1 Gene

  • Skin(4.1)
genes like me logo Genes that share expression patterns with UAP1L1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia UAP1L1 33 34
  • 99.74 (n)
cow
(Bos Taurus)
Mammalia UAP1L1 33 34
  • 85.43 (n)
dog
(Canis familiaris)
Mammalia UAP1L1 33
  • 85.02 (n)
-- 34
  • 85 (a)
OneToMany
-- 34
  • 83 (a)
OneToMany
-- 34
  • 82 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Uap1l1 33 16 34
  • 83 (n)
rat
(Rattus norvegicus)
Mammalia Uap1l1 33
  • 83 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia UAP1L1 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves UAP1L1 33 34
  • 72.87 (n)
lizard
(Anolis carolinensis)
Reptilia UAP1L1 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia uap1l1 33
  • 69.82 (n)
zebrafish
(Danio rerio)
Actinopterygii uap1l1 33 34
  • 66.2 (n)
zgc56509 33
fruit fly
(Drosophila melanogaster)
Insecta mmy 34
  • 47 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C36A4.4 34
  • 35 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes QRI1 34
  • 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 Variation AA Info Type
rs1000008940 -- 137,079,522(+) G/A intron_variant
rs1000197047 -- 137,084,768(+) C/T downstream_transcript_variant
rs1000204173 -- 137,082,151(+) G/A coding_sequence_variant, intron_variant, synonymous_variant
rs1000508761 -- 137,079,823(+) G/A intron_variant
rs1000836025 -- 137,079,866(+) G/T intron_variant

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)

Additional Variant Information 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

Additional Disease Information for 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 (Nature genetics 2004) 3 4 58
  2. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C … Emili A (Nature 2015) 3 58
  3. Initial characterization of the human central proteome. (PMID: 21269460) Burkard TR … Colinge J (BMC systems biology 2011) 4 58
  4. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4 58
  5. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 4 58

Products for UAP1L1 Gene

Sources for UAP1L1 Gene

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