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The protein encoded by this gene is a sodium-dependent neutral amino acid transporter for alanine, serine, cysteine, and threonine. Defects in this gene have been associated with developmental delay, microcephaly, and intellectual disability. [provided by RefSeq, Jan 2017]
SLC1A4 (Solute Carrier Family 1 Member 4) is a Protein Coding gene. Diseases associated with SLC1A4 include Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly and Hartnup Disorder. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Neuroscience. Gene Ontology (GO) annotations related to this gene include chloride channel activity and L-serine transmembrane transporter activity. An important paralog of this gene is SLC1A5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005254 | chloride channel activity | IDA | 8910405 |
GO:0015171 | amino acid transmembrane transporter activity | TAS | -- |
GO:0015175 | neutral amino acid transmembrane transporter activity | IEA | -- |
GO:0015180 | L-alanine transmembrane transporter activity | IDA,IMP | 26041762 |
GO:0015183 | L-aspartate transmembrane transporter activity | IEA,ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005813 | centrosome | IDA | -- |
GO:0005882 | intermediate filament | IEA,ISS | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | IC | 8910405 |
GO:0009986 | cell surface | HDA | 19581412 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | ||
2 | Neuroscience | ||
3 | Amino acid transport across the plasma membrane |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006865 | amino acid transport | TAS | -- |
GO:0006868 | glutamine transport | TAS | 21757002 |
GO:0015808 | L-alanine transport | IDA | 8101838 |
GO:0015811 | NOT L-cystine transport | IDA | 8340364 |
GO:0015824 | proline transport | IDA | 14502423 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
sodium |
|
7440-23-5 |
|
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SLC1A4 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | SLC1A4 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SLC1A4 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Slc1a4 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Slc1a4 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | SLC1A4 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SLC1A4 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SLC1A4 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | slc1a4 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | slc1a4 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Eaat1 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | T22E5.2 32 |
|
|
|
glt-4 31 |
|
OneToMany | |||
W03G1.1 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
813663 | Uncertain Significance: Microcephaly | 64,989,883(+) |
G/C NM_003038.5(SLC1A4):c.240G>C (p.Glu80Asp) |
MISSENSE_VARIANT,INTRON | |
932143 | Pathogenic: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | 65,018,673(+) |
G/A NM_003038.5(SLC1A4):c.1358G>A (p.Trp453Ter) |
NONSENSE | |
932144 | Pathogenic: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | 65,018,177(+) |
G/A NM_003038.5(SLC1A4):c.1141G>A (p.Gly381Arg) |
MISSENSE | |
rs1037527372 | Likely Pathogenic: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | 64,989,915(+) |
T/C NM_003038.5(SLC1A4):c.272T>C (p.Leu91Pro) |
MISSENSE_VARIANT,INTRON | |
rs1057517664 | Pathogenic: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | 65,016,582(+) |
CTT/C NM_003038.5(SLC1A4):c.944_945del (p.Leu315fs) |
FRAMESHIFT_VARIANT,INTRON |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1127e212 | CNV | gain | 25503493 |
dgv1128e212 | CNV | gain | 25503493 |
esv275563 | CNV | loss | 21479260 |
nsv1010909 | CNV | gain | 25217958 |
nsv834246 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spastic tetraplegia, thin corpus callosum, and progressive microcephaly |
|
|
hartnup disorder |
|
|
microcephaly |
|
|
spasticity |
|
|
cystinuria |
|
|