SLC61A1: Solute Carrier Family 61 Member 1
A molybdate transporter with emerging roles in trace element homeostasis and disease
Gene Information Card
| Symbol | SLC61A1 |
|---|---|
| Full Name | Solute carrier family 61 member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 100130894 ncbi.nlm.nih.gov/gene/100130894 |
| Ensembl ID | ENSG00000204301 |
| UniProt ID | Q8N4S9 |
| OMIM ID | 617655 |
| HGNC ID | 37238 |
| Aliases | MOT1, MOC1, Molybdate transporter 1 |
Description
SLC61A1 (solute carrier family 61 member 1) encodes a plasma membrane molybdate transporter that mediates cellular uptake of molybdate (MoO4^2-), an essential trace element required for the activity of molybdenum-dependent enzymes such as sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase. The protein is expressed in kidney, liver, and other tissues and plays a critical role in molybdenum homeostasis. Mutations in SLC61A1 are associated with molybdenum cofactor deficiency and related metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Molybdenum cofactor deficiency (MoCD) type C | Loss-of-function mutations impair molybdate uptake, reducing molybdenum cofactor biosynthesis and activity of molybdoenzymes | ClinVar, OMIM |
| Sulfite oxidase deficiency (secondary) | Deficient molybdenum cofactor leads to accumulation of toxic sulfite and neurological damage | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Small intestine | 6.1 | Low |
| Pancreas | 4.7 | Low |
| Testis | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Highest expression in renal epithelial models |
| HepG2 | 9.8 | Hepatocyte line |
| Caco-2 | 5.4 | Intestinal epithelial line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, no protein |
| c.226C>T (p.Arg76*) | Nonsense | Rare | Premature stop, loss of function |
| c.434G>A (p.Gly145Asp) | Missense | Rare | Impaired molybdate transport activity |
Mutation functional classification
Loss of Function (LOF)
Most reported SLC61A1 mutations are loss-of-function, leading to reduced molybdate uptake and molybdenum cofactor deficiency.
Gain of Function (GOF)
No gain-of-function mutations have been described in the literature.
Dominant Negative (DN)
No dominant-negative effects have been reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • GO:0015099 molybdate ion transmembrane transporter activity | • GO:0015689 molybdate ion transport |
| • GO:0005887 integral component of plasma membrane | • GO:0055078 molybdenum ion homeostasis |
Pathways
• Molybdenum cofactor biosynthesis (Reactome: R-HSA-947581)
• Sulfite oxidation (Reactome: R-HSA-1614558)
Protein Summary
SLC61A1 is a 587-amino acid transmembrane protein with 12 predicted membrane-spanning domains. It functions as a high-affinity molybdate transporter, coupling molybdate import to proton gradient. The protein is localized to the plasma membrane and is essential for molybdenum cofactor synthesis. Structural modeling suggests a conserved molybdate-binding pocket. Post-translational modifications include N-glycosylation at Asn-123.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC61A1 Knockout HEK293 Cell Line | EDJ-KQ9532 | Human | 84975 | Details Get a Quote |
| SLC61A1 Knockout A-549 Cell Line | EDJ-KQ37557 | Human | 84975 | Details Get a Quote |
| SLC61A1 Knockout HCT 116 Cell Line | EDC07740 | Human | 84975 | Details Get a Quote |
| SLC61A1 Knockout HeLa Cell Line | EDJ-KQ37559 | Human | 84975 | Details Get a Quote |
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