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Aliases for UMODL1 Gene

Aliases for UMODL1 Gene

  • Uromodulin Like 1 2 3 5
  • Olfactorin 2 3 4
  • Uromodulin-Like 1 3

External Ids for UMODL1 Gene

Previous GeneCards Identifiers for UMODL1 Gene

  • GC21U990105
  • GC21P042413
  • GC21P043484
  • GC21P028908

Summaries for UMODL1 Gene

GeneCards Summary for UMODL1 Gene

UMODL1 (Uromodulin Like 1) is a Protein Coding gene. Diseases associated with UMODL1 include Myopia. Gene Ontology (GO) annotations related to this gene include calcium ion binding and peptidase inhibitor activity. An important paralog of this gene is UMOD.

Additional gene information for UMODL1 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 UMODL1 Gene

Genomics for UMODL1 Gene

GeneHancer (GH) Regulatory Elements for UMODL1 Gene

Promoters and enhancers for UMODL1 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
GH21I042060 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 557 +31.7 31667 4.4 HDGF PKNOX1 RB1 BATF KLF5 IRF4 ZNF121 ZNF143 ATF7 ETV6 UMODL1 ZBTB21 ZNF295-AS1 ABCG1 C2CD2 UMODL1-AS1
GH21I042066 Promoter/Enhancer 0.7 EPDnew dbSUPER 550.3 +34.7 34656 0.1 UMODL1 ZBTB21 ZNF295-AS1 C2CD2 UMODL1-AS1
GH21I042231 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 21.8 +204.0 203999 7.7 HDGF PKNOX1 SIN3A FEZF1 IRF4 TCF12 GLIS2 ZNF207 ZNF143 ATF7 GC21M042234 ABCG1 UMODL1 PRDM15 ENSG00000233754 U2AF1 TFF2 ZBTB21 WDR4 C2CD2
GH21I041923 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.6 -102.5 -102484 11.6 HDGF FOXA2 SMAD1 MLX ZFP64 DMAP1 IRF4 ZNF48 FOS ATF7 C2CD2 PRDM15 ENSG00000251778 ENSG00000227698 ENSG00000236545 UMODL1 ZBTB21 ZNF295-AS1 UMODL1-AS1 WDR4
GH21I041952 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.6 -77.2 -77167 4.3 HDGF PKNOX1 ARNT NEUROD1 SIN3A DMAP1 ZBTB7B POLR2B ZNF207 FOS C2CD2 PRDM15 WDR4 ENSG00000233754 ZBTB21 ZNF295-AS1 ENSG00000251778 ENSG00000227698 ENSG00000236545 UMODL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around UMODL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UMODL1 gene promoter:

Genomic Locations for UMODL1 Gene

Genomic Locations for UMODL1 Gene
chr21:42,031,463-42,143,453
(GRCh38/hg38)
Size:
111,991 bases
Orientation:
Plus strand
chr21:43,483,068-43,563,563
(GRCh37/hg19)

Genomic View for UMODL1 Gene

Genes around UMODL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UMODL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UMODL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UMODL1 Gene

Proteins for UMODL1 Gene

  • Protein details for UMODL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5DID0-UROL1_HUMAN
    Recommended name:
    Uromodulin-like 1
    Protein Accession:
    Q5DID0
    Secondary Accessions:
    • C9JCE6
    • Q5DIC9
    • Q6LA40
    • Q6LA41
    • Q8N216

    Protein attributes for UMODL1 Gene

    Size:
    1318 amino acids
    Molecular mass:
    144294 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC04211.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for UMODL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UMODL1 Gene

Post-translational modifications for UMODL1 Gene

  • Glycosylation at isoforms=2, 3, 489, isoforms=2, 3, 4109, isoforms=2, 3, 4172, isoforms=2, 3, 4322, isoforms=2, 3, 4335, isoforms=2, 3, 4417, posLast=585585, posLast=713713, isoforms=2, 3, 4984, and isoforms=2, 3, 41050

No data available for DME Specific Peptides for UMODL1 Gene

Domains & Families for UMODL1 Gene

Gene Families for UMODL1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with UMODL1: view

No data available for UniProtKB/Swiss-Prot for UMODL1 Gene

Function for UMODL1 Gene

Phenotypes From GWAS Catalog for UMODL1 Gene

Gene Ontology (GO) - Molecular Function for UMODL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with UMODL1: view
genes like me logo Genes that share phenotypes with UMODL1: view

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for UMODL1 Gene

Localization for UMODL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UMODL1 Gene

Cell membrane; Single-pass type I membrane protein.
Isoform 3: Cytoplasm.
Isoform 4: Cytoplasm.

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 UMODL1 gene
Compartment Confidence
plasma membrane 4
extracellular 3
peroxisome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for UMODL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0009897 external side of plasma membrane IEA --
genes like me logo Genes that share ontologies with UMODL1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for UMODL1 Gene

Pathways & Interactions for UMODL1 Gene

SuperPathways for UMODL1 Gene

No Data Available

Interacting Proteins for UMODL1 Gene

Gene Ontology (GO) - Biological Process for UMODL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007338 single fertilization IEA --
GO:0010466 negative regulation of peptidase activity IEA --
GO:0010468 regulation of gene expression IEA --
GO:0042981 regulation of apoptotic process IEA --
GO:0048609 multicellular organismal reproductive process IEA --
genes like me logo Genes that share ontologies with UMODL1: view

No data available for Pathways by source and SIGNOR curated interactions for UMODL1 Gene

Drugs & Compounds for UMODL1 Gene

No Compound Related Data Available

Transcripts for UMODL1 Gene

Unigene Clusters for UMODL1 Gene

Uromodulin-like 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for UMODL1 Gene

No ASD Table

Relevant External Links for UMODL1 Gene

GeneLoc Exon Structure for
UMODL1
ECgene alternative splicing isoforms for
UMODL1

Expression for UMODL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UMODL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for UMODL1 Gene

This gene is overexpressed in Testis (x12.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for UMODL1 Gene



NURSA nuclear receptor signaling pathways regulating expression of UMODL1 Gene:

UMODL1

SOURCE GeneReport for Unigene cluster for UMODL1 Gene:

Hs.242520

mRNA Expression by UniProt/SwissProt for UMODL1 Gene:

Q5DID0-UROL1_HUMAN
Tissue specificity: Isoform 4 is expressed at low level in kidney, testis and fetal thymus. Isoform 3 is expressed at low level in prostate, testis and fetal thymus.
genes like me logo Genes that share expression patterns with UMODL1: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for UMODL1 Gene

Orthologs for UMODL1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for UMODL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UMODL1 33 34
  • 98.38 (n)
dog
(Canis familiaris)
Mammalia UMODL1 33 34
  • 77.83 (n)
cow
(Bos Taurus)
Mammalia UMODL1 33 34
  • 75.6 (n)
rat
(Rattus norvegicus)
Mammalia Umodl1 33
  • 73 (n)
mouse
(Mus musculus)
Mammalia Umodl1 33 16 34
  • 72.96 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia UMODL1 34
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves UMODL1 33 34
  • 59.79 (n)
lizard
(Anolis carolinensis)
Reptilia UMODL1 34
  • 41 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia umodl1 33
  • 51.31 (n)
zebrafish
(Danio rerio)
Actinopterygii umodl1 33 34
  • 46.08 (n)
Species where no ortholog for UMODL1 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for UMODL1 Gene

ENSEMBL:
Gene Tree for UMODL1 (if available)
TreeFam:
Gene Tree for UMODL1 (if available)

Paralogs for UMODL1 Gene

Paralogs for UMODL1 Gene

genes like me logo Genes that share paralogs with UMODL1: view

Variants for UMODL1 Gene

Sequence variations from dbSNP and Humsavar for UMODL1 Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs539189509 uncertain-significance, Malignant tumor of prostate 42,127,796(+) G/A coding_sequence_variant, missense_variant
rs1000037125 -- 42,082,009(+) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant
rs1000093229 -- 42,067,225(+) C/A genic_upstream_transcript_variant, intron_variant
rs1000093824 -- 42,132,526(+) T/C intron_variant
rs1000100580 -- 42,115,531(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for UMODL1 Gene

Variant ID Type Subtype PubMed ID
nsv587626 CNV loss 21841781
nsv587625 CNV loss 21841781
nsv587624 CNV loss 21841781
nsv528679 CNV loss 19592680
nsv525313 CNV loss 19592680
nsv510798 CNV deletion 20534489
nsv472901 CNV novel sequence insertion 20440878
nsv1135907 CNV deletion 24896259
nsv1118934 CNV deletion 24896259
nsv1072607 CNV deletion 25765185
nsv1072182 CNV deletion 25765185
nsv1062246 CNV loss 25217958
esv993470 CNV deletion 20482838
esv3647079 CNV loss 21293372
esv3568206 CNV loss 25503493
esv3373984 CNV insertion 20981092
esv3046012 CNV deletion 24192839
esv2723531 CNV deletion 23290073
esv2723530 CNV deletion 23290073
esv2723529 CNV deletion 23290073
esv2723527 CNV deletion 23290073
esv2723526 CNV deletion 23290073
esv2723525 CNV deletion 23290073
esv2723524 CNV deletion 23290073
esv2723523 CNV deletion 23290073
esv2723518 CNV deletion 23290073
esv2723516 CNV deletion 23290073
esv26620 CNV loss 19812545
esv2423716 CNV deletion 19546169
esv2402523 CNV deletion 18987734
esv23152 CNV gain 19812545
esv2110905 CNV deletion 18987734
dgv712e201 CNV deletion 23290073
dgv711e201 CNV deletion 23290073

Variation tolerance for UMODL1 Gene

Residual Variation Intolerance Score: 99.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.08; 97.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UMODL1 Gene

Human Gene Mutation Database (HGMD)
UMODL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UMODL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UMODL1 Gene

Disorders for UMODL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for UMODL1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
myopia
  • near vision
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for UMODL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with UMODL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UMODL1 Gene

Publications for UMODL1 Gene

  1. New susceptibility locus for high myopia is linked to the uromodulin-like 1 (UMODL1) gene region on chromosome 21q22.3. (PMID: 18535602) Nishizaki R … Mizuki N (Eye (London, England) 2009) 3 22 44 58
  2. UMODL1/Olfactorin is an extracellular membrane-bound molecule with a restricted spatial expression in olfactory and vomeronasal neurons. (PMID: 16026467) Di Schiavi E … Rugarli EI (The European journal of neuroscience 2005) 2 3 4 58
  3. Initial characterization of an uromodulin-like 1 gene on human chromosome 21q22.3. (PMID: 15194491) Shibuya K … Shimizu N (Biochemical and biophysical research communications 2004) 3 4 22 58
  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 44 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for UMODL1 Gene

Sources for UMODL1 Gene

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