SLC36A4 belongs to the SLC36 family of amino acid transporters based on sequence similarity with other family members (e.g., SLC36A1; MIM 606561). SLC36 proteins contain about 500 amino acids and have 9 to 11 transmembrane domains. Unlike other SLC36 family members, which are proton-coupled amino acid transporters, SLC36A4 is a high-affinity/low-capacity non-proton-coupled amin... See more...

Aliases for SLC36A4 Gene

Aliases for SLC36A4 Gene

  • Solute Carrier Family 36 Member 4 2 3 4 5
  • PAT4 2 3 4
  • Solute Carrier Family 36 (Proton/Amino Acid Symporter), Member 4 2 3
  • Proton-Coupled Amino Acid Transporter 4 3 4
  • Proton/Amino Acid Transporter 4 4
  • FLJ38932 2
  • SLC36A4 5

External Ids for SLC36A4 Gene

Previous GeneCards Identifiers for SLC36A4 Gene

  • GC11M093065
  • GC11M092569
  • GC11M092520
  • GC11M092880
  • GC11M088965
  • GC11M093890
  • GC11M094024
  • GC11M094039
  • GC11M094217
  • GC11M093208
  • GC11M093321
  • GC11M093322
  • GC11M093422
  • GC11M093697

Summaries for SLC36A4 Gene

Entrez Gene Summary for SLC36A4 Gene

  • SLC36A4 belongs to the SLC36 family of amino acid transporters based on sequence similarity with other family members (e.g., SLC36A1; MIM 606561). SLC36 proteins contain about 500 amino acids and have 9 to 11 transmembrane domains. Unlike other SLC36 family members, which are proton-coupled amino acid transporters, SLC36A4 is a high-affinity/low-capacity non-proton-coupled amino acid transporter (Pillai and Meredith, 2011 [PubMed 21097500]).[supplied by OMIM, Feb 2011]

GeneCards Summary for SLC36A4 Gene

SLC36A4 (Solute Carrier Family 36 Member 4) is a Protein Coding gene. Diseases associated with SLC36A4 include Retinitis Pigmentosa 75. Among its related pathways are Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include symporter activity and amino acid transmembrane transporter activity. An important paralog of this gene is SLC36A1.

UniProtKB/Swiss-Prot Summary for SLC36A4 Gene

  • Functions as a sodium-independent electroneutral transporter for tryptophan, proline and alanine. Inhibited by sarcosine.

Additional gene information for SLC36A4 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC36A4 Gene

Genomics for SLC36A4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC36A4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC36A4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC36A4

Top Transcription factor binding sites by QIAGEN in the SLC36A4 gene promoter:
  • ATF
  • E47
  • E4BP4
  • FOXI1
  • HFH-3
  • Nkx6-1
  • RP58
  • Sox5
  • Tal-1beta

Genomic Locations for SLC36A4 Gene

Genomic Locations for SLC36A4 Gene
chr11:93,144,174-93,386,038
(GRCh38/hg38)
Size:
241,865 bases
Orientation:
Minus strand
chr11:92,877,341-92,931,130
(GRCh37/hg19)
Size:
53,790 bases
Orientation:
Minus strand

Genomic View for SLC36A4 Gene

Genes around SLC36A4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC36A4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC36A4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC36A4 Gene

Proteins for SLC36A4 Gene

  • Protein details for SLC36A4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6YBV0-S36A4_HUMAN
    Recommended name:
    Proton-coupled amino acid transporter 4
    Protein Accession:
    Q6YBV0
    Secondary Accessions:
    • Q86X30
    • Q8IVM5
    • Q8N8S6

    Protein attributes for SLC36A4 Gene

    Size:
    504 amino acids
    Molecular mass:
    56157 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAC82496.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC36A4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC36A4 Gene

Post-translational modifications for SLC36A4 Gene

  • Glycosylation at Asn194, Asn197, and Asn495
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC36A4 Gene

Domains & Families for SLC36A4 Gene

Gene Families for SLC36A4 Gene

Protein Domains for SLC36A4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC36A4 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 36 member 4 (S36A4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6YBV0

UniProtKB/Swiss-Prot:

S36A4_HUMAN :
  • Belongs to the amino acid/polyamine transporter 2 family.
Family:
  • Belongs to the amino acid/polyamine transporter 2 family.
genes like me logo Genes that share domains with SLC36A4: view

Function for SLC36A4 Gene

Molecular function for SLC36A4 Gene

UniProtKB/Swiss-Prot Function:
Functions as a sodium-independent electroneutral transporter for tryptophan, proline and alanine. Inhibited by sarcosine.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=3.1 uM for L-proline {ECO:0000269|PubMed:21097500}; KM=1.7 uM for L-tryptophan {ECO:0000269|PubMed:21097500}; pH dependence: Optimum pH is 7.4 (for proline transport). {ECO:0000269|PubMed:21097500};

Phenotypes From GWAS Catalog for SLC36A4 Gene

Gene Ontology (GO) - Molecular Function for SLC36A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015171 amino acid transmembrane transporter activity IBA 21873635
GO:0015180 L-alanine transmembrane transporter activity IDA 21097500
GO:0015193 L-proline transmembrane transporter activity IDA 21097500
GO:0015196 L-tryptophan transmembrane transporter activity IDA 21097500
GO:0015293 symporter activity IEA --
genes like me logo Genes that share ontologies with SLC36A4: view
genes like me logo Genes that share phenotypes with SLC36A4: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC36A4

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC36A4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC36A4 Gene

Localization for SLC36A4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC36A4 Gene

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 SLC36A4 gene
Compartment Confidence
plasma membrane 5
cytosol 3
endosome 2
lysosome 2
golgi apparatus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC36A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005774 vacuolar membrane IBA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC36A4: view

Pathways & Interactions for SLC36A4 Gene

PathCards logo

SuperPathways for SLC36A4 Gene

SuperPathway Contained pathways
1 Collagen chain trimerization
genes like me logo Genes that share pathways with SLC36A4: view

Pathways by source for SLC36A4 Gene

1 KEGG pathway for SLC36A4 Gene

Interacting Proteins for SLC36A4 Gene

Gene Ontology (GO) - Biological Process for SLC36A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003333 amino acid transmembrane transport IBA 21873635
GO:0006865 amino acid transport IEA --
GO:0015808 L-alanine transport IDA 21097500
GO:0015824 proline transport IDA 21097500
GO:0015827 tryptophan transport IDA 21097500
genes like me logo Genes that share ontologies with SLC36A4: view

No data available for SIGNOR curated interactions for SLC36A4 Gene

Drugs & Compounds for SLC36A4 Gene

No Compound Related Data Available

Transcripts for SLC36A4 Gene

mRNA/cDNA for SLC36A4 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC36A4

Alternative Splicing Database (ASD) splice patterns (SP) for SLC36A4 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11
SP1: - -
SP2: - - -
SP3:
SP4:

Relevant External Links for SLC36A4 Gene

GeneLoc Exon Structure for
SLC36A4

Expression for SLC36A4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC36A4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC36A4 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC36A4

SOURCE GeneReport for Unigene cluster for SLC36A4 Gene:

Hs.148766

Evidence on tissue expression from TISSUES for SLC36A4 Gene

  • Nervous system(4.5)
  • Muscle(4.4)
  • Skin(2.1)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with SLC36A4: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC36A4 Gene

Orthologs for SLC36A4 Gene

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

Orthologs for SLC36A4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC36A4 30 31
  • 99.74 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC36A4 30 31
  • 92.31 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC36A4 30 31
  • 91.65 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Slc36a4 30 17 31
  • 83.67 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC36A4 31
  • 82 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc36a4 30
  • 81.97 (n)
Oppossum
(Monodelphis domestica)
Mammalia SLC36A4 31
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SLC36A4 30 31
  • 72.81 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC36A4 31
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc36a4 30
  • 66.95 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32457 30
Zebrafish
(Danio rerio)
Actinopterygii slc36a4 30 31
  • 59.32 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG13384 30 31
  • 51.06 (n)
ManyToMany
CG16700 31
  • 32 (a)
ManyToMany
CG7888 31
  • 32 (a)
ManyToMany
CG8785 31
  • 31 (a)
ManyToMany
path 31
  • 30 (a)
ManyToMany
CG1139 31
  • 30 (a)
ManyToMany
CG43693 31
  • 28 (a)
ManyToMany
CG4991 31
  • 27 (a)
ManyToMany
CG32081 31
  • 27 (a)
ManyToMany
CG32079 31
  • 25 (a)
ManyToMany
CG12943 31
  • 24 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008490 30
  • 48.66 (n)
Worm
(Caenorhabditis elegans)
Secernentea T27A1.5 31
  • 32 (a)
ManyToMany
Y43F4B.7 31
  • 30 (a)
ManyToMany
H32K16.1 31
  • 27 (a)
ManyToMany
C44B7.6 31
  • 26 (a)
ManyToMany
Y38H6C.17 31
  • 25 (a)
ManyToMany
F59B2.2 31
  • 24 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AVT4 30 31
  • 48.24 (n)
ManyToMany
AVT3 31
  • 15 (a)
ManyToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C13277g 30
  • 46.56 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AER380C 30
  • 45.45 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 43 (a)
OneToMany
Species where no ortholog for SLC36A4 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SLC36A4 Gene

ENSEMBL:
Gene Tree for SLC36A4 (if available)
TreeFam:
Gene Tree for SLC36A4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC36A4: view image

Paralogs for SLC36A4 Gene

(3) SIMAP similar genes for SLC36A4 Gene using alignment to 3 proteins:

  • S36A4_HUMAN
  • E9PID7_HUMAN
  • E9PN09_HUMAN
genes like me logo Genes that share paralogs with SLC36A4: view

Variants for SLC36A4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC36A4 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs17854443 - p.Leu429Ile
rs17854445 - p.Pro376His
rs17854446 - p.Leu209Ile

Additional dbSNP identifiers (rs#s) for SLC36A4 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC36A4 Gene

Variant ID Type Subtype PubMed ID
dgv1253n100 CNV loss 25217958
dgv2094n54 CNV loss 21841781
esv2759853 CNV loss 17122850
esv33564 CNV loss 17666407
nsv1039134 CNV loss 25217958
nsv435 CNV deletion 18451855
nsv510593 OTHER complex 20534489
nsv525304 CNV loss 19592680
nsv818858 CNV loss 17921354

Variation tolerance for SLC36A4 Gene

Residual Variation Intolerance Score: 75.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.05; 50.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC36A4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC36A4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC36A4 Gene

Disorders for SLC36A4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC36A4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 75
  • rp75
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with SLC36A4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC36A4 Gene

Publications for SLC36A4 Gene

  1. SLC36A4 (hPAT4) is a high affinity amino acid transporter when expressed in Xenopus laevis oocytes. (PMID: 21097500) Pillai SM … Meredith D (The Journal of biological chemistry 2011) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. PAT4 levels control amino-acid sensitivity of rapamycin-resistant mTORC1 from the Golgi and affect clinical outcome in colorectal cancer. (PMID: 26434594) Fan SJ … Goberdhan DC (Oncogene 2016) 3
  4. Genome-wide association study identifies a region on chromosome 11q14.3 associated with late rectal bleeding following radiation therapy for prostate cancer. (PMID: 23719583) Kerns SL … Ostrer H (Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology 2013) 3
  5. Evolutionary origin of amino acid transporter families SLC32, SLC36 and SLC38 and physiological, pathological and therapeutic aspects. (PMID: 23506890) Schiöth HB … Fredriksson R (Molecular aspects of medicine 2013) 3

Products for SLC36A4 Gene

Sources for SLC36A4 Gene