SLC1A4 - solute carrier family 1 member 4 Gene

Homo sapiens

Also known as SATT; ASCT1; SPATCCM

Gene ID: 6509 | Gene type: protein coding

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

SLC1A4 Protein Structure

SDF

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13055	SLC1A4 Human Pre-designed siRNA Set A		/	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

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