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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. GO annotations related to this gene include calcium ion binding and peptidase inhibitor activity.

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

Regulatory Elements for UMODL1 Gene

Enhancers for UMODL1 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
GH21G042231 2 FANTOM5 Ensembl ENCODE dbSUPER 21.8 +204.0 203999 7.7 CREB3L1 MLX DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 PRDM15 WDR4 U2AF1 ABCG1 ENSG00000233754 UMODL1 TFF2 ENSG00000227698 ZBTB21 ENSG00000235772
GH21G042413 1.8 FANTOM5 Ensembl ENCODE dbSUPER 15.9 +383.5 383493 3.4 HDGF ATF1 TBL1XR1 NFIB BRCA1 ZBTB40 EGR1 ZNF143 FOS RELB UMODL1 ZBTB21 ABCG1 C2CD2 UBASH3A RNU6-1149P
GH21G042423 1.7 FANTOM5 Ensembl ENCODE dbSUPER 14.2 +393.3 393334 3.6 HDGF TBP WRNIP1 BMI1 ZNF48 RAD21 GATA2 ZNF143 ZNF207 RELB UMODL1 TMPRSS3 TFF1 TFF3 TFF2 ZBTB21 ABCG1 UBASH3A C2CD2 RNU6-1149P
GH21G041923 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.6 -102.5 -102484 11.6 HDGF FOXA2 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 SLC30A9 ZNF766 ENSG00000227698 C2CD2 ENSG00000251778 PRDM15 ENSG00000236545 UMODL1 ZNF295-AS1 ZBTB21 UMODL1-AS1 MX1
GH21G042096 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.8 +66.3 66341 2.5 PKNOX1 ARNT FEZF1 RFX5 ZNF366 SMARCC2 RCOR1 FOS SMARCC1 CEBPB UMODL1-AS1 ZBTB21 ZNF295-AS1 UMODL1 C2CD2 ABCG1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UMODL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for UMODL1 Gene

Chromosome:
21
Start:
42,031,463 bp from pter
End:
42,143,453 bp from pter
Size:
111,991 bases
Orientation:
Plus strand

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 Asn89, Asn109, Asn172, isoforms=2, 3, 4322, Asn335, isoforms=2, 3, 4417, posLast=585585, Asn713, Asn984, and Asn1050
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for UMODL1 Gene

Domains & Families for UMODL1 Gene

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

Function 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

Animal Model Products

CRISPR Products

Inhibitory RNA 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

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:

CRISPR Products

Inhibitory RNA 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

Primer Products

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 34 35
  • 98.38 (n)
dog
(Canis familiaris)
Mammalia UMODL1 34 35
  • 77.83 (n)
cow
(Bos Taurus)
Mammalia UMODL1 34 35
  • 75.6 (n)
rat
(Rattus norvegicus)
Mammalia Umodl1 34
  • 73 (n)
mouse
(Mus musculus)
Mammalia Umodl1 34 16 35
  • 72.96 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia UMODL1 35
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves UMODL1 34 35
  • 59.79 (n)
lizard
(Anolis carolinensis)
Reptilia UMODL1 35
  • 41 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia umodl1 34
  • 51.31 (n)
zebrafish
(Danio rerio)
Actinopterygii umodl1 34 35
  • 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

No data available for Paralogs for UMODL1 Gene

Variants for UMODL1 Gene

Sequence variations from dbSNP and Humsavar for UMODL1 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs539189509 Uncertain significance 42,127,796(+) TCCGC(A/G)TCTGC reference, missense
rs1000037125 -- 42,082,009(+) CCATC(A/G)GTAGA intron-variant, utr-variant-5-prime
rs1000093229 -- 42,067,225(+) CCACC(A/C)CTCCC intron-variant
rs1000093824 -- 42,132,526(+) TTCAT(C/T)CATCC intron-variant
rs1000100580 -- 42,115,531(+) CCACA(C/T)GCTTC intron-variant

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

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

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)

Relevant External Links for UMODL1 Gene

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

Relevant External Links for UMODL1

Genetic Association Database (GAD)
UMODL1
Human Genome Epidemiology (HuGE) Navigator
UMODL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UMODL1

No disorders were found for UMODL1 Gene.

No data available for MalaCards , 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 (Lond) 2009) 3 22 46 64
  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 E.I. (Eur. J. Neurosci. 2005) 2 3 4 64
  3. Initial characterization of an uromodulin-like 1 gene on human chromosome 21q22.3. (PMID: 15194491) Shibuya K. … Shimizu N. (Biochem. Biophys. Res. Commun. 2004) 3 4 22 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for UMODL1 Gene

Sources for UMODL1 Gene

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