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This gene encodes a member of the type II sodium-phosphate cotransporter family. Mutations in this gene are associated with hypophosphatemia nephrolithiasis/osteoporosis 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
SLC34A1 (Solute Carrier Family 34 Member 1) is a Protein Coding gene. Diseases associated with SLC34A1 include Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 and Hypercalcemia, Infantile, 2. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Mineral absorption. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and PDZ domain binding. An important paralog of this gene is SLC34A2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005436 | sodium:phosphate symporter activity | IBA,IMP | 26047794 |
GO:0005515 | protein binding | IPI | 17895247 |
GO:0015293 | symporter activity | IEA | -- |
GO:0015321 | sodium-dependent phosphate transmembrane transporter activity | IEA | -- |
GO:0030165 | PDZ domain binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005768 | endosome | IEA | -- |
GO:0005829 | cytosol | IDA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001503 | ossification | IEA | -- |
GO:0001822 | kidney development | IEA | -- |
GO:0006811 | ion transport | IEA | -- |
GO:0006814 | sodium ion transport | IEA | -- |
GO:0006817 | phosphate ion transport | IDA | 8327470 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium Phosphate | Approved | Pharma | Transporter, substrate | 0 | ||
Calcium phosphate dihydrate | Approved | Pharma | Transporter | 0 | ||
Sodium phosphate, dibasic | Approved | Pharma | Transporter | 0 | ||
Sodium phosphate, monobasic | Approved | Pharma | Transporter, substrate | 0 | ||
Sodium phosphate, monobasic, unspecified form | Approved | Pharma | Transporter | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SLC34A1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SLC34A1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SLC34A1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Slc34a1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Slc34a1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SLC34A1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC34A1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SLC34A1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SLC34A1 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | slc34a1a 30 31 |
|
OneToMany | |
slc34a1b 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | ZK563.2 30 31 32 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
1164 | Pathogenic: FACTOR XII (WASHINGTON D.C.) | 177,402,372(+) | A/T | MISSENSE_VARIANT | |
635429 | Uncertain Significance: Hypercalcemia, infantile, 2 | 177,398,074(+) | C/A | MISSENSE_VARIANT | |
684754 | Likely Pathogenic: Osteogenesis imperfecta type III | 177,386,033(+) | GGGCCCTGTGGCCCTT | FRAMESHIFT_VARIANT | |
695874 | Benign: not provided | 177,404,491(+) | C/T | INTRON_VARIANT | |
696497 | Likely Benign: not provided | 177,404,542(+) | C/G | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv10184n54 | CNV | loss | 21841781 |
dgv10185n54 | CNV | loss | 21841781 |
dgv373e215 | CNV | deletion | 23714750 |
dgv733n27 | CNV | loss | 19166990 |
esv1007597 | CNV | deletion | 20482838 |
esv2675618 | CNV | deletion | 23128226 |
esv2731189 | CNV | deletion | 23290073 |
esv2731190 | CNV | deletion | 23290073 |
esv4214 | CNV | loss | 18987735 |
nsv1074891 | CNV | deletion | 25765185 |
nsv1148657 | CNV | deletion | 26484159 |
nsv1161311 | CNV | duplication | 26073780 |
nsv1161312 | CNV | deletion | 26073780 |
nsv1161313 | CNV | duplication | 26073780 |
nsv471057 | CNV | loss | 18288195 |
nsv509103 | CNV | insertion | 20534489 |
nsv600364 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
nephrolithiasis/osteoporosis, hypophosphatemic, 1 |
|
|
hypercalcemia, infantile, 2 |
|
|
fanconi renotubular syndrome 2 |
|
|
nephrolithiasis |
|
|
fanconi syndrome |
|
|