SLC7A5 - solute carrier family 7 member 5 Gene

Also Known as E16; CD98; LAT1; 4F2LC; MPE16; D16S469E

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8140

About SLC7A5

Cytogenetic location: 16q24.2 Genomic coordinates (GRCh38): 16:87,830,023-87,869,507 (from NCBI)

This gene has 3 transcripts (splice variants), 244 orthologues and 12 paralogues. Broad expression in testis (RPKM 35.6), bone marrow (RPKM 34.4) and 17 other tissues.

Summary

Enables L-leucine transmembrane transporter activity; L-tryptophan transmembrane transporter activity; and thyroid hormone transmembrane transporter activity. Involved in carboxylic acid transport; thyroid hormone transport; and xenobiotic transport. Located in cytosol; intracellular membrane-bounded organelle; and plasma membrane. Is integral component of membrane. Part of amino acid transport complex; apical plasma membrane; and microvillus membrane. [provided by Alliance of Genome Resources, Apr 2022]

SLC7A5 Products (1)

mRNA Protein Name
NM_003486.7 NP_003477.4 large neutral amino acids transporter small subunit 1
Molecular Function GO Annotation Evidence References Source
enables L-leucine transmembrane transporter activity IDA
IDA: Inferred from direct assay
19075510 GOA
enables L-leucine transmembrane transporter activity IMP
IMP: Inferred from mutant phenotype
24038088 GOA
enables L-tryptophan transmembrane transporter activity IDA
IDA: Inferred from direct assay
30867591 GOA
enables amino acid transmembrane transporter activity IDA
IDA: Inferred from direct assay
26305885 GOA
enables amino acid transmembrane transporter activity IMP
IMP: Inferred from mutant phenotype
23567998 GOA
enables antiporter activity IDA
IDA: Inferred from direct assay
11847106 GOA
enables aromatic amino acid transmembrane transporter activity IGI
IGI: Inferred from genetic interaction
15589117 GOA
enables neutral L-amino acid transmembrane transporter activity IDA
IDA: Inferred from direct assay
26305885 GOA
enables neutral L-amino acid transmembrane transporter activity IMP
IMP: Inferred from mutant phenotype
17197568 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25998567 GOA
enables thyroid hormone transmembrane transporter activity IDA
IDA: Inferred from direct assay
26305885 GOA
Biological Process GO Annotation Evidence References Source
involved in L-histidine transport IDA
IDA: Inferred from direct assay
9751058 GOA
involved in L-leucine import across plasma membrane IDA
IDA: Inferred from direct assay
19075510 GOA
involved in L-leucine import across plasma membrane IMP
IMP: Inferred from mutant phenotype
17197568 GOA
involved in L-leucine transport IDA
IDA: Inferred from direct assay
9751058 GOA
involved in L-tryptophan transmembrane transport IDA
IDA: Inferred from direct assay
30867591 GOA
involved in alanine transport IDA
IDA: Inferred from direct assay
18262359 GOA
involved in amino acid import across plasma membrane IDA
IDA: Inferred from direct assay
26305885 GOA
involved in amino acid import across plasma membrane IMP
IMP: Inferred from mutant phenotype
23567998 GOA
involved in isoleucine transport IDA
IDA: Inferred from direct assay
11557028 GOA
involved in methionine transport IDA
IDA: Inferred from direct assay
11557028 GOA
acts upstream of negative regulation of gene expression IMP
IMP: Inferred from mutant phenotype
24038088 GOA
involved in neutral amino acid transport IDA
IDA: Inferred from direct assay
11847106 GOA
involved in phenylalanine transport IDA
IDA: Inferred from direct assay
9751058 GOA
involved in phenylalanine transport IGI
IGI: Inferred from genetic interaction
15589117 GOA
acts upstream of positive regulation of interleukin-17 production IMP
IMP: Inferred from mutant phenotype
24038088 GOA
acts upstream of positive regulation of interleukin-4 production IMP
IMP: Inferred from mutant phenotype
24038088 GOA
acts upstream of positive regulation of type II interferon production IMP
IMP: Inferred from mutant phenotype
24038088 GOA
involved in proline transport IDA
IDA: Inferred from direct assay
10574970 GOA
involved in thyroid hormone transport IDA
IDA: Inferred from direct assay
11564694 GOA
involved in tryptophan transport IDA
IDA: Inferred from direct assay
10049700 GOA
involved in tyrosine transport IDA
IDA: Inferred from direct assay
11557028 GOA
involved in valine transport IDA
IDA: Inferred from direct assay
11557028 GOA
involved in xenobiotic transport IMP
IMP: Inferred from mutant phenotype
23567998 GOA
Cellular Component GO Annotation Evidence References Source
part of amino acid transport complex IDA
IDA: Inferred from direct assay
30867591 GOA
located in apical plasma membrane IDA
IDA: Inferred from direct assay
11742812 GOA
located in membrane IDA
IDA: Inferred from direct assay
30867591 GOA
located in microvillus membrane IDA
IDA: Inferred from direct assay
26050671 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
9751058 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

SLC7A5 Protein Structure

AA_permease_2

AA_permease_2: Amino acid permease (50 - 467)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 507 a.a.
Protein Preferred Names Protein Names

large neutral amino acids transporter small subunit 1

  • 4F2 light chain

SLC7A5 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SLC7A5 Q01650 SLC3A2 Homo sapiens P08195-1
GMS
31160781
Intra
SLC7A5 Q01650 SLC3A2 Homo sapiens P08195-1 31160781
Intra
SLC7A5 Q01650 SLC3A2 Homo sapiens P08195-1 31160781
Intra
SLC7A5 Q01650 SLC3A2 Homo sapiens P08195 35271311
Cross: Cross-species interaction Intra: Intraspecies interaction

SLC7A5 Antibodies

Cat. No. Product Name Application Reactivity
HY-P81448 SLC7A5/LAT1 Antibody (YA1193) IHC-P Human
HY-P81448A SLC7A5/LAT1 Antibody (YA1193)(PBS only) IHC-P Human

Related Diseases

Diseases Alias
Lysinuric Protein Intolerance
  • LPI

  • Dibasic Amino Aciduria Ii

  • Hyperdibasic Aminoaciduria

  • Dibasic Aminoaciduria 2

  • Dibasicamino Aciduria Ii

  • Congenital Lysinuria

  • Lpi - Lysinuric Protein Intolerance

Phenylketonuria
  • Phenylalanine Hydroxylase Deficiency

  • PKU

  • Pah Deficiency

  • Folling Disease

  • Maternal Phenylketonuria

  • Phenylketonurias

  • Oligophrenia Phenylpyruvica

  • Hyperphenylalaninemia, Non-Pku Mild

  • Folling'S Disease

  • Phenylalaninemia

  • Mild Phenylketonuria

  • Mild Pku

  • Variant Pku

  • Variant Phenylketonuria

  • Mpku

  • Deficiency Disease, Phenylalanine Hydroxylase

  • Phenylketonuria, Maternal

  • Phenylalanine Hydroxylase Deficiency Disease

  • Hyperphenylalaninemic Embryopathy

  • Maternal Pku

  • Maternal Hyperphenylalaninemia

  • Phenylketonuric Embryopathy

  • Hyperphenylalaninemia

  • HPA

  • Non-Phenylketonuria Hyperphenylalaninemia

  • NON-PKU HPA

  • Phenylketonuria Maternal

  • Classical Phenylketonuria

  • Hyperphenylalaninaemia

  • Pku - [Phenylketonuria]

Maple Syrup Urine Disease
  • MSUD

  • Bckd Deficiency

  • Branched-Chain Ketoaciduria

  • Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency

  • Keto Acid Decarboxylase Deficiency

  • Maple Syrup Urine Disease, Type Ii

  • Branched Chain Ketoaciduria

  • Classic Maple Syrup Urine Disease

  • Intermittent Maple Syrup Urine Disease

  • Maple Syrup Urine Disease, Type Ia

  • Ketoacidaemia

  • Bckdh Deficiency

  • Branched-Chain 2-Ketoacid Dehydrogenase Deficiency

  • Thiamine-Responsive Maple Syrup Urine Disease

  • Intermediate Maple Syrup Urine Disease

  • Maple Syrup Urine Disease Type 1a

  • Maple Syrup Urine Disease Type 1b

  • Maple Syrup Urine Disease Type 2

  • Maple Syrup Urine Disease, Type Ib

  • Dihydrolipoamide Dehydrogenase Deficiency

  • Branched-Chain Ketoacid Dehydrogenase Deficiency

  • Maple Syrup Disease

  • Ketoacidemia

  • Classic Bckd Deficiency

  • Classic Msud

  • Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

  • Classic Branched-Chain Ketoaciduria

  • Thiamine-Responsive Bckd Deficiency

  • Thiamine-Responsive Msud

  • Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

  • Intermittent Bckd Deficiency

  • Intermittent Msud

  • Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

  • Maple Syrup Urine Disease 1a

  • MSUD1A

  • Maple Syrup Urine Disease Type Ia

  • Msud Type Ia

  • Maple Syrup Urine Disease 1b

  • MSUD1B

  • Maple Syrup Urine Disease Type Ib

  • Msud Type Ib

  • Maple Syrup Urine Disease 2

  • MSUD2

  • Maple Syrup Urine Disease Type Ii

  • Msud Type Ii

  • Nadh Cytochrome B5 Reductase Deficiency

  • Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency

  • Ketonemia

  • Maple Syrup Urine Disease, Type 1b

  • Ketoacid Decarboxylase Deficiency

  • Oxoacid Decarboxylase Deficiency

  • Branched Chain Ketoacid Dehydrogenase Deficiency

  • Msud - [Maple-Syrup-Urine Disease]

  • Ketoaminoacidaemia

  • Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency]

  • Maple-Syrup-Urine Disorder

  • Maple-Syrup-Urine Syndrome

Extrahepatic Bile Duct Adenocarcinoma
  • Adenocarcinoma Of The Extrahepatic Bile Duct

  • Adenocarcinoma Of Extrahepatic Bile Duct

Central Serous Chorioretinopathy
  • Central Serous Chorioretinopathy After Bone Marrow Transplantation

  • Central Serous Choroidopathy

  • Cscr

  • Central Serous Retinopathy

  • Central Serous Choroidoretinopathy

Pancreatic Cancer
  • Pancreatic Carcinoma

  • Carcinoma Of Pancreas

  • Familial Pancreatic Carcinoma

  • Pancreatic Neoplasm

  • Pancreatic Carcinoma, Familial

  • Malignant Neoplasm Of Pancreas

  • Pancreatic Acinar Carcinoma

  • Pancreatic Tumor

  • Familial Pancreatic Cancer

  • Neoplasm Of The Pancreas

  • Cancer Of The Pancreas

  • Pancreatic Carcinoma, Somatic

  • Pancreatic Cancer, Somatic

  • Ca Body Of Pancreas

  • Ca Head Of Pancreas

  • Ca Tail Of Pancreas

  • Malignant Neoplasm Of Body Of Pancreas

  • Malignant Neoplasm Of Head Of Pancreas

  • Malignant Neoplasm Of Tail Of Pancreas

  • Pancreas Neoplasm

  • Exocrine Cancer

  • Exocrine Pancreas Carcinoma

  • Hereditary Pancreatic Cancer

  • Hereditary Pancreatic Carcinoma

  • PNCA

  • Pancreatic Cancer, Susceptibility To

  • Carcinoma Of Head Of Pancreas

  • Pancreatic Neoplasms

  • Pancreatic Tumors

  • Cancer, Pancreatic

  • Cancer Of Pancreas

  • Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Lip And Oral Cavity Cancer
  • Oral Cancer

  • Lip And Oral Cavity Carcinoma

  • Malignant Neoplasm Of Mouth

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

Autism Spectrum Disorder
  • Asd

  • Autism Spectrum Disorders

  • Autistic Continuum

  • Pervasive Developmental Disorder

  • Pervasive Development Disorder

  • Autistic Behavior

  • Autistic Disorder

  • Autistic

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Childhood Autism

  • Kanner Syndrome

  • Pervasive Developmental Delay Nos

  • Pervasive Developmental Disorder, Not Otherwise Specified

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

Autism
  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic

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

Orthologs Information

Species Symbol Source ID
Mus musculus SLC7A5 MGD MGI:1298205
Rattus norvegicus SLC7A5 RGD RGD:620639
Felis catus SLC7A5 VGNC VGNC:97632
Bos taurus SLC7A5 VGNC VGNC:52250
Canis familiaris SLC7A5 VGNC VGNC:53447
Macaca mulatta SLC7A5 VGNC VGNC:104750
Others SLC7A5 NCBI