Aliases for SLC7A1 Gene

Aliases for SLC7A1 Gene

  • Solute Carrier Family 7 Member 1 2 3 4 5
  • CAT-1 2 3 4
  • REC1L 2 3 4
  • Solute Carrier Family 7 (Cationic Amino Acid Transporter, Y+ System), Member 1 2 3
  • High Affinity Cationic Amino Acid Transporter 1 3 4
  • Ecotropic Retroviral Leukemia Receptor Homolog 3 4
  • System Y+ Basic Amino Acid Transporter 3 4
  • Ecotropic Retrovirus Receptor Homolog 3 4
  • Amino Acid Transporter, Cationic 1 2 3
  • Ecotropic Retroviral Receptor 2 3
  • ATRC1 3 4
  • HCAT1 2 3
  • CAT1 3 4
  • ERR 3 4
  • SLC7A1 5

External Ids for SLC7A1 Gene

Previous HGNC Symbols for SLC7A1 Gene

  • ERR
  • ATRC1

Previous GeneCards Identifiers for SLC7A1 Gene

  • GC13M028068
  • GC13M024068
  • GC13M029016
  • GC13M027886
  • GC13M027884
  • GC13M028984
  • GC13M030083
  • GC13M010903

Summaries for SLC7A1 Gene

GeneCards Summary for SLC7A1 Gene

SLC7A1 (Solute Carrier Family 7 Member 1) is a Protein Coding gene. Diseases associated with SLC7A1 include Tinea Capitis and Subacute Leukemia. Among its related pathways are Nanog in Mammalian ESC Pluripotency and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include amino acid transmembrane transporter activity and L-ornithine transmembrane transporter activity. An important paralog of this gene is SLC7A2.

UniProtKB/Swiss-Prot Summary for SLC7A1 Gene

  • High-affinity, low capacity permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine) in non-hepatic tissues.

Gene Wiki entry for SLC7A1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC7A1 Gene

Genomics for SLC7A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC7A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J029592 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 256.5 +1.0 1002 3.8 SP1 ZNF207 MYC ZNF600 POLR2A CEBPA BRCA1 ZIC2 ZBTB10 MXD4 SLC7A1 lnc-MTUS2-2 MTUS2-AS1 MTUS2 piR-31809
GH13J029846 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 9.8 -252.6 -252618 6.2 ZNF207 ZNF600 SIX5 ZNF10 POLR2A ZBTB10 YY1 CEBPB SIN3A TARDBP UBL3 HSALNG0096072 SLC7A1 HSALNG0096071
GH13J029507 Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 +87.4 87387 3 ZNF654 ZNF600 SSRP1 POLR2A CTCF REST DEK TRIM22 FEZF1 RAD21 lnc-MTUS2-1 piR-54905 SLC7A1 MTUS2-AS1 MTUS2
GH13J029758 Enhancer 1.2 FANTOM5 Ensembl ENCODE 10 -163.4 -163413 1.8 SP1 CEBPA BCL11A TRIM22 NR2C1 FOXA2 CTBP1 IRF4 EBF1 CBFB LINC00544 SLC7A1 UBL3 HSALNG0096068 HSALNG0096066
GH13J029513 Enhancer 0.7 Ensembl ENCODE dbSUPER 15.9 +81.2 81192 2.7 RBM22 TAF1 NR2F2 MN309630 SLC7A1 lnc-MTUS2-1 HSALNG0096058 MTUS2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC7A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC7A1

Top Transcription factor binding sites by QIAGEN in the SLC7A1 gene promoter:
  • CREB
  • deltaCREB
  • PPAR-gamma1
  • PPAR-gamma2
  • STAT3

Genomic Locations for SLC7A1 Gene

Latest Assembly
chr13:29,509,410-29,595,688
(GRCh38/hg38)
Size:
86,279 bases
Orientation:
Minus strand

Previous Assembly
chr13:30,083,551-30,169,825
(GRCh37/hg19 by Entrez Gene)
Size:
86,275 bases
Orientation:
Minus strand

chr13:30,083,547-30,169,825
(GRCh37/hg19 by Ensembl)
Size:
86,279 bases
Orientation:
Minus strand

Genomic View for SLC7A1 Gene

Genes around SLC7A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC7A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC7A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC7A1 Gene

Proteins for SLC7A1 Gene

  • Protein details for SLC7A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P30825-SL7A1_HUMAN
    Recommended name:
    High affinity cationic amino acid transporter 1
    Protein Accession:
    P30825
    Secondary Accessions:
    • Q5JR50

    Protein attributes for SLC7A1 Gene

    Size:
    629 amino acids
    Molecular mass:
    67638 Da
    Quaternary structure:
    • Interacts with TM4SF5; the interaction is negatively regulated by arginine.

neXtProt entry for SLC7A1 Gene

Post-translational modifications for SLC7A1 Gene

  • Glycosylation at Asn226 and Asn235
  • Ubiquitination at Lys4 and Lys484
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • SL7A1_HUMAN (1314)

Other Protein References for SLC7A1 Gene

No data available for DME Specific Peptides for SLC7A1 Gene

Domains & Families for SLC7A1 Gene

Gene Families for SLC7A1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC7A1 Gene

Suggested Antigen Peptide Sequences for SLC7A1 Gene

GenScript: Design optimal peptide antigens:
  • System Y+ basic amino acid transporter (SL7A1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P30825

UniProtKB/Swiss-Prot:

SL7A1_HUMAN :
  • Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family.
Family:
  • Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family.
genes like me logo Genes that share domains with SLC7A1: view

Function for SLC7A1 Gene

Molecular function for SLC7A1 Gene

UniProtKB/Swiss-Prot Function:
High-affinity, low capacity permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine) in non-hepatic tissues.
GENATLAS Biochemistry:
solute carrier family 7,member A1,high affinity sodium independent,cationic amino-acid transporter,y+ type

Phenotypes From GWAS Catalog for SLC7A1 Gene

Gene Ontology (GO) - Molecular Function for SLC7A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000064 L-ornithine transmembrane transporter activity IBA 21873635
GO:0005290 L-histidine transmembrane transporter activity IDA 11591158
GO:0005515 protein binding IPI 25416956
GO:0015171 amino acid transmembrane transporter activity IDA,TAS --
GO:0015174 basic amino acid transmembrane transporter activity IMP 17197568
genes like me logo Genes that share ontologies with SLC7A1: view
genes like me logo Genes that share phenotypes with SLC7A1: view

Animal Models for SLC7A1 Gene

MGI Knock Outs for SLC7A1:

Animal Models for research

  • Taconic Biosciences Mouse Models for SLC7A1

miRNA for SLC7A1 Gene

miRTarBase miRNAs that target SLC7A1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC7A1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC7A1 Gene

Localization for SLC7A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC7A1 Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC7A1 gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 2
nucleus 2
cytosol 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SLC7A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 1718082
GO:0009925 basal plasma membrane ISS --
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC7A1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC7A1 Gene

Pathways & Interactions for SLC7A1 Gene

genes like me logo Genes that share pathways with SLC7A1: view

Pathways by source for SLC7A1 Gene

Gene Ontology (GO) - Biological Process for SLC7A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006865 amino acid transport TAS --
GO:0015807 L-amino acid transport IDA 28684763
GO:0015809 arginine transport IEA --
GO:0015819 lysine transport IDA 11891586
GO:0015822 ornithine transport IMP 17197568
genes like me logo Genes that share ontologies with SLC7A1: view

No data available for SIGNOR curated interactions for SLC7A1 Gene

Drugs & Compounds for SLC7A1 Gene

(9) Drugs for SLC7A1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ornithine Approved Nutra Target 87
Lysine Approved Nutra Target 187
Arginine Investigational Nutra Target 564

(4) Additional Compounds for SLC7A1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SLC7A1: view

Transcripts for SLC7A1 Gene

mRNA/cDNA for SLC7A1 Gene

1 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC7A1

Alternative Splicing Database (ASD) splice patterns (SP) for SLC7A1 Gene

No ASD Table

Relevant External Links for SLC7A1 Gene

GeneLoc Exon Structure for
SLC7A1

Expression for SLC7A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC7A1 Gene

mRNA differential expression in normal tissues according to GTEx for SLC7A1 Gene

This gene is overexpressed in Esophagus - Mucosa (x5.2).

Protein differential expression in normal tissues from HIPED for SLC7A1 Gene

This gene is overexpressed in Breast (23.4), Bone (11.9), Testis (11.0), and Plasma (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC7A1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC7A1

SOURCE GeneReport for Unigene cluster for SLC7A1 Gene:

Hs.14846

mRNA Expression by UniProt/SwissProt for SLC7A1 Gene:

P30825-SL7A1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for SLC7A1 Gene

  • Nervous system(4.3)
  • Intestine(3.3)
  • Heart(2.4)
  • Kidney(2.4)
  • Skin(2.3)
  • Thyroid gland(2.2)
  • Muscle(2.1)
  • Pancreas(2.1)
  • Liver(2.1)
genes like me logo Genes that share expression patterns with SLC7A1: view

Primer products for research

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC7A1 Gene

Orthologs for SLC7A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC7A1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC7A1 29 30
  • 99.36 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC7A1 29 30
  • 87.76 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC7A1 29 30
  • 86.06 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc7a1 29
  • 85.52 (n)
Mouse
(Mus musculus)
Mammalia Slc7a1 29 16 30
  • 84.46 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC7A1 30
  • 72 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC7A1 30
  • 61 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CAT-1 30
  • 77 (a)
OneToOne
SLC7A1 29
  • 72.2 (n)
Lizard
(Anolis carolinensis)
Reptilia SLC7A1 30
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc7a1 29
  • 68.3 (n)
Zebrafish
(Danio rerio)
Actinopterygii SLC7A1 (2 of 2) 30
  • 70 (a)
OneToMany
slc7a1 29 30
  • 67.67 (n)
OneToMany
Dr.26583 29
Fruit Fly
(Drosophila melanogaster)
Insecta slif 29
  • 56.16 (n)
CG11128 31
  • 45 (a)
CG7255 31
  • 45 (a)
CG5535 31
  • 44 (a)
CG13248 31
  • 39 (a)
Worm
(Caenorhabditis elegans)
Secernentea C50D2.2 31
  • 39 (a)
B0454.6 31
  • 36 (a)
F23F1.6 31
  • 35 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BAP2 32
Thale Cress
(Arabidopsis thaliana)
eudicotyledons CAT4 29
  • 47.54 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 52 (a)
OneToMany
Species where no ortholog for SLC7A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SLC7A1 Gene

ENSEMBL:
Gene Tree for SLC7A1 (if available)
TreeFam:
Gene Tree for SLC7A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC7A1: view image
Alliance of Genome Resources:
Additional Orthologs for SLC7A1

Paralogs for SLC7A1 Gene

(7) SIMAP similar genes for SLC7A1 Gene using alignment to 2 proteins:

  • SL7A1_HUMAN
  • Q5JR49_HUMAN
genes like me logo Genes that share paralogs with SLC7A1: view

Variants for SLC7A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC7A1 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
rs139952828 Benign: not provided 29,517,201(-) G/A
NM_003045.5(SLC7A1):c.1620C>T (p.Ala540=)
SYNONYMOUS
rs141800249 Benign: not provided 29,532,921(-) G/A
NM_003045.5(SLC7A1):c.432C>T (p.Ile144=)
SYNONYMOUS
rs148473504 Benign: not provided 29,532,873(-) C/T
NM_003045.5(SLC7A1):c.480G>A (p.Leu160=)
SYNONYMOUS
rs34747283 Benign: not provided 29,522,324(-) G/A
NM_003045.5(SLC7A1):c.1182C>T (p.Ala394=)
SYNONYMOUS
rs374457127 Likely Benign: not provided 29,535,919(-) C/A
NM_003045.5(SLC7A1):c.270G>T (p.Arg90=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC7A1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SLC7A1 Gene

Variant ID Type Subtype PubMed ID
esv1006674 CNV deletion 20482838
esv1071553 CNV deletion 17803354
esv2661963 CNV deletion 23128226
esv2671622 CNV deletion 23128226
esv2747210 CNV deletion 23290073
esv2747211 CNV deletion 23290073
esv3631656 CNV loss 21293372
nsv1070163 CNV deletion 25765185
nsv1118262 CNV deletion 24896259
nsv1120013 CNV deletion 24896259
nsv561392 CNV loss 21841781
nsv952532 CNV deletion 24416366
nsv979 CNV deletion 18451855

Variation tolerance for SLC7A1 Gene

Residual Variation Intolerance Score: 8.95% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.57; 12.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC7A1 Gene

Human Gene Mutation Database (HGMD)
SLC7A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC7A1
Leiden Open Variation Database (LOVD)
SLC7A1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC7A1 Gene

Disorders for SLC7A1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for SLC7A1 Gene - From: COP

Disorder Aliases PubMed IDs
tinea capitis
  • dermatophytosis of scalp
subacute leukemia
dracunculiasis
  • dracontiasis
dermatophytosis
  • tinea
breast neuroendocrine neoplasm
  • neuroendocrine tumor of the breast
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC7A1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SLC7A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC7A1 Gene

Publications for SLC7A1 Gene

  1. The human cationic amino acid transporter (ATRC1): physical and genetic mapping to 13q12-q14. (PMID: 1348489) Albritton LM … Cunningham JM (Genomics 1992) 2 3 4 22
  2. Protein kinase C activation promotes the internalization of the human cationic amino acid transporter hCAT-1. A new regulatory mechanism for hCAT-1 activity. (PMID: 15491978) Rotmann A … Closs EI (The Journal of biological chemistry 2004) 3 22 25
  3. Transmembrane 4 L Six Family Member 5 Senses Arginine for mTORC1 Signaling. (PMID: 30956113) Jung JW … Lee JW (Cell metabolism 2019) 3 4
  4. Changes of differentiation and proliferation in k562 cells with various levels of knockdown of cationic amino acid transporter 1. (PMID: 18574322) Maeda T … Tamai I (Drug metabolism and pharmacokinetics 2008) 3 22
  5. Ornithine transport via cationic amino acid transporter-1 is involved in ornithine cytotoxicity in retinal pigment epithelial cells. (PMID: 17197568) Kaneko S … Ito S (Investigative ophthalmology & visual science 2007) 3 22

Products for SLC7A1 Gene

Sources for SLC7A1 Gene