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Aliases for SLC36A1 Gene

Aliases for SLC36A1 Gene

  • Solute Carrier Family 36 Member 1 2 3 4 5
  • Solute Carrier Family 36 (Proton/Amino Acid Symporter), Member 1 2 3
  • Proton/Amino Acid Transporter 1 3 4
  • PAT1 3 4
  • Proton-Coupled Amino Acid Transporter 1 3
  • Lysosomal Amino Acid Transporter 1 3
  • LYAAT1 3
  • TRAMD3 3
  • HPAT1 4
  • DCT1 3

External Ids for SLC36A1 Gene

Previous GeneCards Identifiers for SLC36A1 Gene

  • GC05P150799
  • GC05P150845
  • GC05P150855
  • GC05P150807
  • GC05P145972

Summaries for SLC36A1 Gene

Entrez Gene Summary for SLC36A1 Gene

  • This gene encodes a member of the eukaryote-specific amino acid/auxin permease (AAAP) 1 transporter family. The encoded protein functions as a proton-dependent, small amino acid transporter. This gene is clustered with related family members on chromosome 5q33.1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

GeneCards Summary for SLC36A1 Gene

SLC36A1 (Solute Carrier Family 36 Member 1) is a Protein Coding gene. Diseases associated with SLC36A1 include Iminoglycinuria, Digenic. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Collagen chain trimerization. GO annotations related to this gene include symporter activity and L-alanine transmembrane transporter activity. An important paralog of this gene is SLC36A2.

UniProtKB/Swiss-Prot for SLC36A1 Gene

  • Neutral amino acid/proton symporter. Has a pH-dependent electrogenic transport activity for small amino acids such as glycine, alanine and proline. Besides small apolar L-amino acids, it also recognize their D-enantiomers and selected amino acid derivatives such as gamma-aminobutyric acid (By similarity).

Gene Wiki entry for SLC36A1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC36A1 Gene

Genomics for SLC36A1 Gene

Regulatory Elements for SLC36A1 Gene

Enhancers for SLC36A1 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
GH05G151480 1 Ensembl ENCODE 21.7 +69.6 69563 1.1 ELF3 MAX CEBPG RAD21 ZNF644 YY1 ZNF7 POLR2A HNF4G ZNF652 SLC36A1 ENSG00000253897 FAT2 RNA5SP197 GC05M151478 GC05M151491
GH05G151474 0.4 ENCODE 50.7 +65.0 65042 3.0 FOS SLC36A1 ENSG00000253897 SPARC FAT2 GC05M151478 RNA5SP197 LOC105378234
GH05G151482 0.6 Ensembl ENCODE 29.6 +72.1 72080 1.2 MYC SLC36A1 FAT2 GC05M151491 GC05M151478 RNA5SP197
GH05G151612 1.5 Ensembl ENCODE dbSUPER 10.7 +205.8 205805 9.3 HDGF PKNOX1 FOXA2 ATF1 ZBTB7B GLIS2 FOS ZNF263 TBX21 KAT8 LOC105378231 FAT2 ENSG00000253897 SLC36A1 RPLP1P6 G3BP1 ATOX1 SPARC MIR6499
GH05G151495 0.8 Ensembl ENCODE 17.1 +84.8 84774 1.4 POLR2A HLF TEAD4 FOS REST ZBTB33 SLC36A1 FAT2 GC05M151491 ENSG00000271795
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC36A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC36A1 Gene

Chromosome:
5
Start:
151,411,344 bp from pter
End:
151,561,961 bp from pter
Size:
150,618 bases
Orientation:
Plus strand

Genomic View for SLC36A1 Gene

Genes around SLC36A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC36A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC36A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC36A1 Gene

Proteins for SLC36A1 Gene

  • Protein details for SLC36A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z2H8-S36A1_HUMAN
    Recommended name:
    Proton-coupled amino acid transporter 1
    Protein Accession:
    Q7Z2H8
    Secondary Accessions:
    • C9JI34
    • Q1LZ56
    • Q7Z7C0
    • Q86YK4
    • Q96M74

    Protein attributes for SLC36A1 Gene

    Size:
    476 amino acids
    Molecular mass:
    53076 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB71435.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC36A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC36A1 Gene

Post-translational modifications for SLC36A1 Gene

  • Glycosylation at isoforms=3, 4174, Asn183, and Asn470
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC36A1 Gene

Domains & Families for SLC36A1 Gene

Gene Families for SLC36A1 Gene

Protein Domains for SLC36A1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q7Z2H8

UniProtKB/Swiss-Prot:

S36A1_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 SLC36A1: view

Function for SLC36A1 Gene

Molecular function for SLC36A1 Gene

UniProtKB/Swiss-Prot Function:
Neutral amino acid/proton symporter. Has a pH-dependent electrogenic transport activity for small amino acids such as glycine, alanine and proline. Besides small apolar L-amino acids, it also recognize their D-enantiomers and selected amino acid derivatives such as gamma-aminobutyric acid (By similarity).

Gene Ontology (GO) - Molecular Function for SLC36A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005280 hydrogen:amino acid symporter activity IBA --
GO:0015078 hydrogen ion transmembrane transporter activity IBA --
GO:0015171 amino acid transmembrane transporter activity TAS --
GO:0015175 neutral amino acid transmembrane transporter activity IEA --
GO:0015180 L-alanine transmembrane transporter activity IBA --
genes like me logo Genes that share ontologies with SLC36A1: view
genes like me logo Genes that share phenotypes with SLC36A1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC36A1

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC36A1 Gene

Localization for SLC36A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC36A1 Gene

Cell membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein. Note=In neurons, colocalizes with the exocyst complex in the axonal processes. {ECO:0000250 UniProtKB:Q924A5}.

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 SLC36A1 gene
Compartment Confidence
plasma membrane 5
lysosome 5
endoplasmic reticulum 4
endosome 1

Gene Ontology (GO) - Cellular Components for SLC36A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA,IDA 17897319
GO:0005783 endoplasmic reticulum IDA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SLC36A1: view

Pathways & Interactions for SLC36A1 Gene

genes like me logo Genes that share pathways with SLC36A1: view

Interacting Proteins for SLC36A1 Gene

Gene Ontology (GO) - Biological Process for SLC36A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport TAS --
GO:0006865 amino acid transport TAS --
GO:0015804 neutral amino acid transport IEA --
GO:0015808 L-alanine transport IEA --
genes like me logo Genes that share ontologies with SLC36A1: view

No data available for SIGNOR curated interactions for SLC36A1 Gene

Drugs & Compounds for SLC36A1 Gene

(17) Drugs for SLC36A1 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycine Approved, Vet_approved Nutra Full agonist, Agonist, Target 232
L-Alanine Approved Nutra Full agonist, Agonist, Target Glycine receptor agonist 0
L-Tryptophan Approved, Withdrawn Nutra Positive, Allosteric regulator, binder 0
Oxitriptan Approved Nutra Inhibition, Inhibitor 0
hydroxyproline Approved, Experimental Pharma Transporter 0

(8) Additional Compounds for SLC36A1 Gene - From: IUPHAR and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-HT
Full agonist, Agonist
genes like me logo Genes that share compounds with SLC36A1: view

Transcripts for SLC36A1 Gene

Unigene Clusters for SLC36A1 Gene

Solute carrier family 36 (proton/amino acid symporter), member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC36A1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
SP1: - - - - - - - -
SP2:
SP3: - - - - - -
SP4:
SP5: - - - - - -
SP6:
SP7: - -
SP8:

Relevant External Links for SLC36A1 Gene

GeneLoc Exon Structure for
SLC36A1
ECgene alternative splicing isoforms for
SLC36A1

Expression for SLC36A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC36A1 Gene

mRNA differential expression in normal tissues according to GTEx for SLC36A1 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x5.3), Brain - Cerebellum (x5.0), and Whole Blood (x4.7).

Protein differential expression in normal tissues from HIPED for SLC36A1 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC36A1 Gene



Protein tissue co-expression partners for SLC36A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC36A1 Gene:

SLC36A1

SOURCE GeneReport for Unigene cluster for SLC36A1 Gene:

Hs.269004

Evidence on tissue expression from TISSUES for SLC36A1 Gene

  • Intestine(4.5)
  • Nervous system(2.4)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with SLC36A1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC36A1 Gene

Orthologs for SLC36A1 Gene

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

Orthologs for SLC36A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC36A1 34 35
  • 99.72 (n)
dog
(Canis familiaris)
Mammalia SLC36A1 34 35
  • 90.69 (n)
cow
(Bos Taurus)
Mammalia SLC36A1 34 35
  • 88.24 (n)
mouse
(Mus musculus)
Mammalia Slc36a1 34 16 35
  • 85.68 (n)
rat
(Rattus norvegicus)
Mammalia Slc36a1 34
  • 84.56 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC36A1 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 73 (a)
OneToMany
chicken
(Gallus gallus)
Aves SLC36A1 34
  • 75.31 (n)
-- 35
  • 69 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 73 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia slc36a1 34
  • 66.26 (n)
zebrafish
(Danio rerio)
Actinopterygii slc36a1 34 35
  • 64.19 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG13384 35
  • 38 (a)
ManyToMany
CG1139 35
  • 35 (a)
ManyToMany
CG16700 35
  • 33 (a)
ManyToMany
CG7888 35
  • 33 (a)
ManyToMany
CG8785 35
  • 31 (a)
ManyToMany
path 35
  • 30 (a)
ManyToMany
CG32079 35
  • 29 (a)
ManyToMany
CG4991 35
  • 29 (a)
ManyToMany
CG43693 35
  • 27 (a)
ManyToMany
CG12943 35
  • 26 (a)
ManyToMany
CG32081 35
  • 26 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea T27A1.5 35
  • 32 (a)
ManyToMany
Y43F4B.7 35
  • 32 (a)
ManyToMany
C44B7.6 35
  • 26 (a)
ManyToMany
H32K16.1 35
  • 26 (a)
ManyToMany
Y38H6C.17 35
  • 25 (a)
ManyToMany
F59B2.2 35
  • 23 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR051C 34
  • 44.68 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AVT3 34 35
  • 43.07 (n)
AVT4 35 37
  • 18 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E13795g 34
  • 42.56 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03783 34
  • 47.3 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 44 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes avt3 34
  • 41.51 (n)
Species where no ortholog for SLC36A1 was found in the sources mined by GeneCards:
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • 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 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 SLC36A1 Gene

ENSEMBL:
Gene Tree for SLC36A1 (if available)
TreeFam:
Gene Tree for SLC36A1 (if available)

Paralogs for SLC36A1 Gene

Paralogs for SLC36A1 Gene

(3) SIMAP similar genes for SLC36A1 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with SLC36A1: view

Variants for SLC36A1 Gene

Sequence variations from dbSNP and Humsavar for SLC36A1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs1000003823 -- 151,444,547(+) GGGGC(A/G)CGATC intron-variant
rs1000054441 -- 151,444,364(+) TTTTC(A/T)GTGTA intron-variant
rs1000074003 -- 151,419,299(+) TACCC(C/T)TGGGA intron-variant
rs1000079137 -- 151,447,975(+) CTCAC(A/C)GTCCT intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000089491 -- 151,489,420(+) GTTTG(A/G)AATTA intron-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SLC36A1 Gene

Variant ID Type Subtype PubMed ID
esv3890753 CNV gain 25118596
nsv1140581 CNV deletion 24896259
nsv823322 CNV gain 20364138

Variation tolerance for SLC36A1 Gene

Residual Variation Intolerance Score: 32.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.69; 32.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC36A1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC36A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC36A1 Gene

Disorders for SLC36A1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC36A1 Gene - From: Novoseek and GeneCards

Disorder Aliases PubMed IDs
iminoglycinuria, digenic
  • iminoglycinuria
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC36A1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC36A1
genes like me logo Genes that share disorders with SLC36A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC36A1 Gene

Publications for SLC36A1 Gene

  1. Identification of a disulfide bridge essential for transport function of the human proton-coupled amino acid transporter hPAT1. (PMID: 19549785) Dorn M. … Bosse-Doenecke E. (J. Biol. Chem. 2009) 3 4 22 64
  2. Organization and expression of the SLC36 cluster of amino acid transporter genes. (PMID: 15058382) Bermingham J.R. Jr. … Pennington J. (Mamm. Genome 2004) 3 4 25 64
  3. A cluster of proton/amino acid transporter genes in the human and mouse genomes. (PMID: 12809675) Boll M. … Daniel H. (Genomics 2003) 3 4 22 64
  4. Structure, function and immunolocalization of a proton-coupled amino acid transporter (hPAT1) in the human intestinal cell line Caco-2. (PMID: 12527723) Chen Z. … Ganapathy V. (J. Physiol. (Lond.) 2003) 3 4 22 64
  5. Taurine uptake across the human intestinal brush-border membrane is via two transporters: H+-coupled PAT1 (SLC36A1) and Na+- and Cl(-)-dependent TauT (SLC6A6). (PMID: 19074966) Anderson C.M. … Thwaites D.T. (J. Physiol. (Lond.) 2009) 3 22 64

Products for SLC36A1 Gene

Sources for SLC36A1 Gene

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