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Aliases for SLC7A4 Gene

Aliases for SLC7A4 Gene

  • Solute Carrier Family 7 Member 4 2 3 4 5
  • Solute Carrier Family 7 (Cationic Amino Acid Transporter, Y+ System), Member 4 2 3
  • Solute Carrier Family 7 (Orphan Transporter), Member 4 2 3
  • CAT-4 3 4
  • CAT4 3 4
  • Solute Carrier Family 7, Member 4 2
  • Cationic Amino Acid Transporter 4 3
  • Ig Heavy Chain Variable Region 3
  • VH 3 Family 3
  • HCAT3 3
  • VH 3

External Ids for SLC7A4 Gene

Previous GeneCards Identifiers for SLC7A4 Gene

  • GC22M018081
  • GC22M019707
  • GC22M021383
  • GC22M004651

Summaries for SLC7A4 Gene

GeneCards Summary for SLC7A4 Gene

SLC7A4 (Solute Carrier Family 7 Member 4) is a Protein Coding gene. Diseases associated with SLC7A4 include Velocardiofacial Syndrome and Chromophobe Adenoma. GO annotations related to this gene include amino acid transmembrane transporter activity and basic amino acid transmembrane transporter activity. An important paralog of this gene is SLC7A1.

UniProtKB/Swiss-Prot for SLC7A4 Gene

  • Involved in the transport of the cationic amino acids (arginine, lysine and ornithine).

Gene Wiki entry for SLC7A4 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC7A4 Gene

Genomics for SLC7A4 Gene

Regulatory Elements for SLC7A4 Gene

Enhancers for SLC7A4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around SLC7A4 on UCSC Golden Path with GeneCards custom track

Promoters for SLC7A4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC7A4 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC7A4 Gene

Chromosome:
22
Start:
21,028,718 bp from pter
End:
21,032,840 bp from pter
Size:
4,123 bases
Orientation:
Minus strand

Genomic View for SLC7A4 Gene

Genes around SLC7A4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC7A4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC7A4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC7A4 Gene

Proteins for SLC7A4 Gene

  • Protein details for SLC7A4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43246-CTR4_HUMAN
    Recommended name:
    Cationic amino acid transporter 4
    Protein Accession:
    O43246
    Secondary Accessions:
    • Q0P5U2
    • Q3KNQ6
    • Q4VC45
    • Q6IBY8
    • Q96H88

    Protein attributes for SLC7A4 Gene

    Size:
    635 amino acids
    Molecular mass:
    68268 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC7A4 Gene

Post-translational modifications for SLC7A4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC7A4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC7A4 Gene

Domains & Families for SLC7A4 Gene

Gene Families for SLC7A4 Gene

Protein Domains for SLC7A4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC7A4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O43246

UniProtKB/Swiss-Prot:

CTR4_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 SLC7A4: view

Function for SLC7A4 Gene

Molecular function for SLC7A4 Gene

GENATLAS Biochemistry:
solute carrier family 7,member A4,high affinity sodium independent,cationic amino-acid transporter,y+ type
UniProtKB/Swiss-Prot Function:
Involved in the transport of the cationic amino acids (arginine, lysine and ornithine).

Gene Ontology (GO) - Molecular Function for SLC7A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015174 basic amino acid transmembrane transporter activity TAS 9598310
GO:0015179 L-amino acid transmembrane transporter activity IBA --
GO:0015297 antiporter activity IBA --
genes like me logo Genes that share ontologies with SLC7A4: view
genes like me logo Genes that share phenotypes with SLC7A4: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC7A4

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SLC7A4 Gene

Localization for SLC7A4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC7A4 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC7A4 Gene COMPARTMENTS Subcellular localization image for SLC7A4 gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC7A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IBA --
GO:0016021 integral component of membrane TAS 9598310
genes like me logo Genes that share ontologies with SLC7A4: view

Pathways & Interactions for SLC7A4 Gene

SuperPathways for SLC7A4 Gene

No Data Available

Interacting Proteins for SLC7A4 Gene

Gene Ontology (GO) - Biological Process for SLC7A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006520 cellular amino acid metabolic process TAS 9598310
GO:0006810 transport TAS 9598310
GO:0015807 L-amino acid transport IEA --
GO:1902475 L-alpha-amino acid transmembrane transport IEA --
GO:1990822 basic amino acid transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC7A4: view

No data available for Pathways by source and SIGNOR curated interactions for SLC7A4 Gene

Drugs & Compounds for SLC7A4 Gene

(3) Drugs for SLC7A4 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ornithine Approved Nutra Full agonist, Agonist, Target 67
L-Arginine Approved Nutra Full agonist, Agonist, Target 0
L-Lysine Approved Nutra Full agonist, Agonist, Target 0
genes like me logo Genes that share compounds with SLC7A4: view

Transcripts for SLC7A4 Gene

mRNA/cDNA for SLC7A4 Gene

Unigene Clusters for SLC7A4 Gene

Solute carrier family 7 (orphan transporter), member 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC7A4 Gene

No ASD Table

Relevant External Links for SLC7A4 Gene

GeneLoc Exon Structure for
SLC7A4
ECgene alternative splicing isoforms for
SLC7A4

Expression for SLC7A4 Gene

mRNA expression in normal human tissues for SLC7A4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC7A4 Gene

This gene is overexpressed in Testis (x8.6).

Protein differential expression in normal tissues from HIPED for SLC7A4 Gene

This gene is overexpressed in Placenta (37.9) and Testis (31.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC7A4 Gene



Protein tissue co-expression partners for SLC7A4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC7A4 Gene:

SLC7A4

SOURCE GeneReport for Unigene cluster for SLC7A4 Gene:

Hs.197116
genes like me logo Genes that share expression patterns with SLC7A4: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for SLC7A4 Gene

Orthologs for SLC7A4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC7A4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC7A4 34
  • 80.44 (n)
  • 74.96 (a)
SLC7A4 35
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC7A4 34
  • 83.79 (n)
  • 80.06 (a)
SLC7A4 35
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc7a4 34
  • 81.63 (n)
  • 81.42 (a)
Slc7a4 16
Slc7a4 35
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC7A4 34
  • 99.27 (n)
  • 99.21 (a)
SLC7A4 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc7a4 34
  • 81.63 (n)
  • 81.73 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC7A4 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC7A4 34
  • 73.11 (n)
  • 71.95 (a)
SLC7A4 35
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC7A4 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc7a4 34
  • 67.58 (n)
  • 76.76 (a)
zebrafish
(Danio rerio)
Actinopterygii slc7a4 34
slc7a4 34
  • 64.74 (n)
  • 66.4 (a)
slc7a4 35
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG13248 36
  • 41 (a)
CG13248 34
  • 54.38 (n)
  • 45.16 (a)
CG7255 35
  • 22 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010567 34
  • 55.38 (n)
  • 48.53 (a)
worm
(Caenorhabditis elegans)
Secernentea B0454.6 36
  • 36 (a)
C50D2.2 36
  • 40 (a)
F23F1.6 36
  • 37 (a)
Y53F4B.12 35
  • 16 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HIP1 37
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
ManyToMany
Species where no ortholog for SLC7A4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC7A4 Gene

ENSEMBL:
Gene Tree for SLC7A4 (if available)
TreeFam:
Gene Tree for SLC7A4 (if available)

Paralogs for SLC7A4 Gene

Paralogs for SLC7A4 Gene

(4) SIMAP similar genes for SLC7A4 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SLC7A4: view

Variants for SLC7A4 Gene

Sequence variations from dbSNP and Humsavar for SLC7A4 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs2072550 - 21,031,730(+) CCATG(A/G)TGGAG reference, missense
rs2270384 - 21,030,289(+) ATCGG(C/T)GGCCA reference, missense
rs55700350 - 21,029,140(+) TGGGG(A/T)ATACC reference, missense
rs880881 -- 21,028,575(+) AGGCC(C/T)ACCTG downstream-variant-500B
rs880882 -- 21,028,607(+) CCAGG(A/C)CTGGC downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for SLC7A4 Gene

Variant ID Type Subtype PubMed ID
dgv4483n100 CNV gain 25217958
dgv7993n54 CNV gain 21841781
dgv7994n54 CNV gain 21841781
esv2678175 CNV deletion 23128226
esv2760719 CNV gain 21179565
esv2763693 CNV gain 21179565
esv3647304 CNV loss 21293372
esv3647305 CNV gain 21293372
esv3893441 CNV gain+loss 25118596
nsv1056614 CNV loss 25217958
nsv1062280 CNV gain 25217958
nsv1065617 CNV gain 25217958
nsv3563 CNV deletion 18451855
nsv436864 CNV insertion 17901297
nsv471185 CNV loss 18288195
nsv523162 CNV loss 19592680
nsv588305 CNV loss 21841781
nsv588306 CNV gain 21841781
nsv828960 CNV loss 20364138
nsv834141 CNV loss 17160897
nsv834142 CNV gain 17160897

Variation tolerance for SLC7A4 Gene

Residual Variation Intolerance Score: 78.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.14; 92.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC7A4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC7A4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC7A4 Gene

Disorders for SLC7A4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SLC7A4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
velocardiofacial syndrome
  • cayler cardiofacial syndrome
chromophobe adenoma
  • chromophobe adenoma of the pituitary gland
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC7A4

Human Genome Epidemiology (HuGE) Navigator
SLC7A4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC7A4
genes like me logo Genes that share disorders with SLC7A4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC7A4 Gene

Publications for SLC7A4 Gene

  1. The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome. (PMID: 9598310) Sperandeo M.P. … Sebastio G. (Genomics 1998) 2 3 4 22 65
  2. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4 65
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 65
  4. Analysis of the genomic organization of the human cationic amino acid transporters CAT-1, CAT-2 and CAT-4. (PMID: 11665818) Hammermann R. … RackAc K. (Amino Acids 2001) 2 3 65
  5. Association of serotonin and dopamine gene pathways with behavioral subphenotypes in dementia. (PMID: 20685009) Proitsi P. … Powell J.F. (Neurobiol. Aging 2012) 3 65

Products for SLC7A4 Gene

Sources for SLC7A4 Gene

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