SLC1A4 - solute carrier family 1 member 4 Gene

Also Known as SATT; ASCT1; SPATCCM

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6509

About SLC1A4

Cytogenetic location: 2p14 Genomic coordinates (GRCh38): 2:64,988,479-65,023,865 (from NCBI)

This gene has 5 transcripts (splice variants), 211 orthologues, 6 paralogues and is associated with 2 phenotypes. Broad expression in brain (RPKM 33.8), adrenal (RPKM 12.8) and 23 other tissues.

Summary

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 Products (4)

mRNA Protein Name
NM_001193493.2 NP_001180422.1 neutral amino acid transporter A isoform 2 precursor
NM_001348406.2 NP_001335335.1 neutral amino acid transporter A isoform 3 precursor
NM_001348407.2 NP_001335336.1 neutral amino acid transporter A isoform 3 precursor
NM_003038.5 NP_003029.2 neutral amino acid transporter A isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables L-alanine transmembrane transporter activity IDA
IDA: Inferred from direct assay
8101838 GOA
enables L-alanine transmembrane transporter activity IMP
IMP: Inferred from mutant phenotype
26041762 GOA
NOT enables L-cystine transmembrane transporter activity IDA
IDA: Inferred from direct assay
8340364 GOA
enables L-cystine transmembrane transporter activity IDA
IDA: Inferred from direct assay
8101838 GOA
enables L-hydroxyproline transmembrane transporter activity IDA
IDA: Inferred from direct assay
14502423 GOA
enables L-proline transmembrane transporter activity IDA
IDA: Inferred from direct assay
14502423 GOA
enables L-serine transmembrane transporter activity IDA
IDA: Inferred from direct assay
8101838 GOA
enables L-serine transmembrane transporter activity IMP
IMP: Inferred from mutant phenotype
26041762 GOA
enables L-threonine transmembrane transporter activity IDA
IDA: Inferred from direct assay
8340364 GOA
enables chloride channel activity IDA
IDA: Inferred from direct assay
8910405 GOA
Biological Process GO Annotation Evidence References Source
involved in L-alanine import across plasma membrane IMP
IMP: Inferred from mutant phenotype
26041762 GOA
involved in L-alanine transport IDA
IDA: Inferred from direct assay
8101838 GOA
NOT involved in L-cystine transport IDA
IDA: Inferred from direct assay
8340364 GOA
involved in L-cystine transport IDA
IDA: Inferred from direct assay
8101838 GOA
involved in L-serine import across plasma membrane IMP
IMP: Inferred from mutant phenotype
26041762 GOA
involved in L-serine transport IDA
IDA: Inferred from direct assay
8101838 GOA
involved in cognition IMP
IMP: Inferred from mutant phenotype
16897601 GOA
involved in hydroxyproline transport IDA
IDA: Inferred from direct assay
14502423 GOA
involved in proline transport IDA
IDA: Inferred from direct assay
14502423 GOA
involved in threonine transport IDA
IDA: Inferred from direct assay
8340364 GOA
Cellular Component GO Annotation Evidence References Source
located in membrane IDA
IDA: Inferred from direct assay
26041762 GOA
is active in plasma membrane IMP
IMP: Inferred from mutant phenotype
26041762 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC1A4 Protein Structure

SDF

SDF: Sodium:dicarboxylate symporter family (44 - 476)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 532 a.a.
Protein Preferred Names Protein Names

neutral amino acid transporter A

  • alanine/serine/cysteine/threonine transporter 1

Related Diseases

Diseases Alias
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly

  • Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome

  • SPATCCM

  • Asct1 Deficiency

  • Spastic Quadriplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome

  • Tetraplegia, Spastic, Thin Corpus Callosum, And Progressive Microcephaly
Hartnup Disorder

  • Hartnup Disease

  • HND

  • Neutral 1 Amino Acid Transport Defect

  • Neutral Amino Acid Transport Defect

  • Deficiency Of Tryptophan Oxygenase

  • Hartnup'S Disease

  • Aminoaciduria, Hartnup Type

  • Disorder Of Neutral Amino Acid Transport
Cystinuria

  • CSNU

  • Cystinuria Type B

  • Cystinuria Type A

  • Cystinuria, Type I, Formerly

  • Csnu1, Formerly

  • Cystinuria, Type Ii, Formerly

  • Cystinuria, Type Iii, Formerly

  • Csnu3, Formerly

  • Cystinuria, Type Non-I, Formerly

  • Cystinuria-Lysinuria

  • Cystinuria-Lysinuria Syndrome

  • Csnu1

  • Csnu3

  • Cystinuria 1

  • Cystinuria Type A/B

  • Cystinuria Type I

  • Cystinuria Type Ii

  • Cystinuria Type Iii

  • Cystinuria Type Non-I

  • Cystinuria, Type A/B

  • Cystinuria Type 1

  • Cystinuria - Lysinuria

  • Csnu - [Cystinuria]

  • Cystine Disease
Microcephaly

  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly
Spasticity
Hemiplegia

  • Infantile Hemiplegia

  • Postnatal Infantile Hemiplegia

  • Hemiplegia, Infantile
Phosphoserine Aminotransferase Deficiency

  • Psat Deficiency

  • PSATD

  • Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form

  • Psat Deficiency, Infantile/Juvenile Form

  • Deficiency, Phosphoserine Aminotransferase
Serine Deficiency
Iminoglycinuria

  • Iminoglycinuria, Digenic

  • IG
Schizophrenia

  • SCZD

  • Schizophrenia With Or Without An Affective Disorder

  • Schizophrenia 12

  • Schizophrenia, Susceptibility To

  • Schizophrenia-1

  • Dementia Praecox

  • Schizophrenia 1
Congenital Nervous System Abnormality

  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS13055 SLC1A4 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21934 Slc1a4 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28450 Slc1a4 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris SLC1A4 VGNC VGNC:46264
Rattus norvegicus SLC1A4 RGD RGD:735146
Felis catus SLC1A4 VGNC VGNC:65232
Mus musculus SLC1A4 MGD MGI:2135601
Macaca mulatta SLC1A4 VGNC VGNC:77412
Bos taurus SLC1A4 VGNC VGNC:34714
Others SLC1A4 NCBI