|
Gene id |
6505 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
SLC1A1 Gene UCSC Ensembl |
|
Aliases |
DCBXA, EAAC1, EAAT3, SCZD18 |
|
Gene name |
solute carrier family 1 member 1 |
|
Alternate names |
excitatory amino acid transporter 3, excitatory amino acid carrier 1, neuronal and epithelial glutamate transporter, sodium-dependent glutamate/aspartate transporter 3, solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system X, |
|
Gene location |
9p24.2 (4490465: 4587468) Exons: 14 NC_000001.11
|
|
Gene summary(Entrez) |
This gene encodes a member of the high-affinity glutamate transporters that play an essential role in transporting glutamate across plasma membranes. In brain, these transporters are crucial in terminating the postsynaptic action of the neurotransmitter g
|
|
OMIM |
133550 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
|
|
|
| Associated diseases |
References |
| Autism | GAD: 19360657 |
| Schizophrenia | GAD: 17221839 |
| Several psychiatric disorders | GAD: 19086053 |
| Obsessive compulsive disorder | GAD: 16818866 |
| May be associated with sperm maturation | MIK: 12399522 |
| Male factor infertility | MIK: 27232852 |
| Dicarboxylic aminoaciduria | KEGG: H00911 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Azoospermia | MIK: 19478329 |
| Oligozoospermia | MIK: 19478329 |
| Cryptorchidism | MIK: 28606200 |
| Male infertility | MIK: 27232852 |
| Spermatogenic defects | MIK: 12399522 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 12399522 |
May be ass
ociated wi
th sperm m
aturation
|
|
|
|
Male infertility |
|
Show abstract |
| 27232852 |
Idiopathic
male infe
rtility
|
rs6476866 in SLC1A1 |
Chinese
Han
|
592 (456 health
y fertile men,
136 subfertile
men)
|
Male infertility |
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
| 19478329 |
Azoospermi
a, Oligozo
ospermia
|
rs6476866 |
Caucasi
an
|
51 cases
|
Male infertility |
GWAS
|
Show abstract |
|