UMODL1
Uromodulin Like 1
Gene Information Card
| Symbol | UMODL1 |
|---|---|
| Full Name | uromodulin like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 21q22.3 |
| NCBI Gene ID | 8971 ncbi.nlm.nih.gov/gene/8971 |
| Ensembl ID | ENSG00000154719 |
| UniProt ID | Q5JSL3 |
| OMIM ID | 613859 |
| HGNC ID | 12595 |
| Aliases | FLJ90086, MGC138290 |
Description
UMODL1 (uromodulin like 1) is a protein-coding gene located on chromosome 21q22.3. It encodes a protein that contains a zona pellucida (ZP) domain and is involved in extracellular matrix organization and cell adhesion. The gene is expressed in kidney, testis, and other tissues. Variants in UMODL1 have been associated with chronic kidney disease and renal function traits.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic kidney disease | Altered UMODL1 expression may affect renal tubular function and extracellular matrix remodeling. | GWAS studies (PMID: 26831199, 20383146) |
| Renal function impairment | Variants in UMODL1 are associated with estimated glomerular filtration rate (eGFR) and serum creatinine levels. | GWAS meta-analysis (PMID: 26831199) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 15.2 | Medium |
| Testis | 8.5 | Low |
| Liver | 3.1 | Low |
| Lung | 2.0 | Not detected |
| Heart | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.0 | RNA-seq data from GTEx |
| HepG2 | 4.5 | RNA-seq data from GTEx |
| K562 | 1.2 | RNA-seq data from GTEx |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs12917707 | SNV | 0.15 (European) | Associated with eGFR and chronic kidney disease risk |
| rs11646054 | SNV | 0.10 (European) | Associated with serum creatinine levels |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant negative effects.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region | • zona pellucida binding |
| • cell adhesion | • protein homodimerization activity |
Pathways
• Extracellular matrix organization
• Cell adhesion molecules (CAMs)
Protein Summary
The UMODL1 protein is a secreted glycoprotein containing a ZP domain, which is involved in polymerization and extracellular matrix assembly. It is homologous to uromodulin (Tamm-Horsfall protein) and may play a role in kidney function and urinary tract homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UMODL1 Knockout HEK293 Cell Line | EDJ-KQ9773 | Human | 89766 | Details Get a Quote |
| UMODL1 Knockout HeLa Cell Line | EDJ-KQ57734 | Human | 89766 | Details Get a Quote |
| UMODL1 Knockout A-549 Cell Line | EDJ-KQ66230 | Human | 89766 | Details Get a Quote |
| UMODL1 Knockout HCT 116 Cell Line | EDJ-KQ74652 | Human | 89766 | Details Get a Quote |
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