CLTRN (Collectrin, Amino Acid Transporter)
CLTRN: A key regulator of amino acid transport and renal function
Gene Information Card
| Symbol | CLTRN |
|---|---|
| Full Name | Collectrin, amino acid transporter |
| Gene Type | protein-coding |
| Chromosomal Location | Xp22.2 |
| NCBI Gene ID | 57379 ncbi.nlm.nih.gov/gene/57379 |
| Ensembl ID | ENSG00000124491 |
| UniProt ID | Q9BZW8 |
| OMIM ID | 300749 |
| HGNC ID | 21016 |
| Aliases | CLTRN, TMEM27, UNQ1887/PRO4331 |
Description
CLTRN (collectrin) encodes a transmembrane protein that functions as a chaperone for amino acid transporters, particularly in the kidney and pancreas. It is involved in the trafficking and stabilization of system B(0)AT1 (SLC6A19) and other solute carriers, playing a critical role in renal amino acid reabsorption and insulin secretion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hartnup disorder | Impaired amino acid transport due to defective CLTRN-mediated chaperoning of SLC6A19 | PMID: 15181004 |
| Chronic kidney disease | Reduced CLTRN expression linked to tubular dysfunction | PMID: 19389809 |
| Diabetes mellitus | CLTRN variants associated with altered insulin secretion | PMID: 20018949 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 25.3 | High |
| Pancreas | 12.1 | Medium |
| Small intestine | 8.5 | Medium |
| Liver | 2.4 | Low |
| Brain | 1.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Overexpression studies |
| RPTEC/TERT1 | 22.8 | Renal proximal tubule cells |
| MIN6 | 18.5 | Pancreatic beta-cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | Missense | 0.001% | Reduced SLC6A19 binding |
| c.421G>A (p.Gly141Arg) | Missense | 0.002% | Impaired trafficking |
| c.1A>G (p.Met1Val) | Start loss | <0.001% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations impair chaperone activity, leading to reduced amino acid transport.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • symporter activity (GO:0015293) | • apical plasma membrane (GO:0016324) |
| • plasma membrane (GO:0005886) | • transmembrane transport (GO:0055085) |
| • amino acid transmembrane transport (GO:0003333) |
Pathways
• REACT:136810 (Amino acid transport across the plasma membrane)
• KEGG: hsa04976 (Bile secretion)
• KEGG: hsa04950 (Maturity onset diabetes of the young)
Protein Summary
Collectrin is a 222-amino acid transmembrane protein with a single transmembrane domain. It localizes to the apical membrane of renal proximal tubule cells and pancreatic beta cells, where it interacts with amino acid transporters like SLC6A19 to facilitate their surface expression and function. Loss of collectrin leads to aminoaciduria and impaired insulin secretion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLTRN Knockout HEK293 Cell Line | EDJ-KQ12953 | Human | 57393 | Details Get a Quote |
| CLTRN Knockout A-549 Cell Line | EDJ-KQ42162 | Human | 57393 | Details Get a Quote |
| CLTRN Knockout HeLa Cell Line | EDJ-KQ56833 | Human | 57393 | Details Get a Quote |
| CLTRN Knockout HCT 116 Cell Line | EDJ-KQ73782 | Human | 57393 | Details Get a Quote |
