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] See more...

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-Coupled Amino Acid Transporter 1 3 4
  • Proton/Amino Acid Transporter 1 3 4
  • PAT1 3 4
  • 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 Spinocerebellar Ataxia 45 and Iminoglycinuria. 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. Gene Ontology (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 Summary 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 recognizes their D-enantiomers and selected amino acid derivatives such as gamma-aminobutyric acid (By similarity).

Gene Wiki entry for SLC36A1 Gene

Additional gene information for SLC36A1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC36A1 Gene

Genomics for SLC36A1 Gene

GeneHancer (GH) Regulatory Elements for SLC36A1 Gene

Promoters and enhancers for SLC36A1 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
GH05J151446 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 509 +37.2 37227 3.3 RXRA ZNF217 CTCF TCF12 MYC POLR2G USF1 GTF2E2 PHF8 FOS SLC36A1 ZNF300P1 SLC36A2 FAT2 ENSG00000271795 lnc-FAT2-2 ENSG00000253897
GH05J151436 Promoter 0.7 EPDnew Ensembl 509 +25.1 25057 1.6 ENSG00000253897 SLC36A1 LOC105378234 SLC36A2 ENSG00000271795 lnc-SLC36A2-2
GH05J151474 Enhancer 0.7 Ensembl ENCODE 50.8 +69.2 69206 11.3 MXI1 GATA3 POLR2A SPI1 FOS SMARCA4 MYC MAX GATA2 ZNF316 SLC36A1 FAT2 ENSG00000253897 SPARC LOC105378231 RF00001-267 RNA5SP197 lnc-FAT2-1
GH05J151469 Enhancer 0.5 Ensembl 39.8 +58.5 58457 1.6 FOXA2 FOXA1 FOS FOXA3 CEBPB CEBPA SLC36A1 FAT2 piR-48965-118 lnc-FAT2-2
GH05J151612 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.7 +205.8 205757 9.8 EP300 ZNF217 TCF12 NCOR1 ZIC2 TCF7 FOXA1 CUX1 SMARCC2 SKI G3BP1 LOC105378231 ZNF300 ENSG00000253897 SLC36A1 FAT2 ZNF300P1 RPLP1P6 ATOX1 SPARC
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC36A1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC36A1

Top Transcription factor binding sites by QIAGEN in the SLC36A1 gene promoter:
  • AML1a
  • Arnt
  • c-Myc
  • C/EBPalpha
  • Max
  • Max1
  • Pax-2
  • Pax-2a
  • USF-1
  • USF1

Genomic Locations for SLC36A1 Gene

Genomic Locations for SLC36A1 Gene
chr5:151,411,344-151,561,961
(GRCh38/hg38)
Size:
150,618 bases
Orientation:
Plus strand
chr5:150,816,607-150,871,942
(GRCh37/hg19)
Size:
55,336 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 Asn174, 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

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

Protein Domains for SLC36A1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC36A1 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 36 (Proton/amino acid symporter), member 1, isoform CRA_a (D3DQH7_HUMAN)
  • Transmembrane domain transport protein (Q1LZ56_HUMAN)
  • Transmembrane transport protein (Q86YK4_HUMAN)
  • Solute carrier family 36 member 1 (S36A1_HUMAN)

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 recognizes their D-enantiomers and selected amino acid derivatives such as gamma-aminobutyric acid (By similarity).

Phenotypes From GWAS Catalog for SLC36A1 Gene

Gene Ontology (GO) - Molecular Function for SLC36A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005280 amino acid:proton symporter activity IBA 21873635
GO:0015078 proton transmembrane transporter activity IBA 21873635
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 21873635
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

Clone 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
endoplasmic reticulum 4
endosome 2
lysosome 2
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
golgi apparatus 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,HDA 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC36A1 Gene

Pathways & Interactions for SLC36A1 Gene

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

Gene Ontology (GO) - Biological Process for SLC36A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003333 amino acid transmembrane transport IBA 21873635
GO:0006811 ion transport TAS --
GO:0006865 amino acid transport TAS --
GO:0015804 neutral amino acid transport IEA --
GO:0015808 L-alanine transport IBA 21873635
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

(21) 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 369
Oxitriptan Approved, Investigational Nutra Inhibition, Inhibitor 0
Tryptophan Approved, Withdrawn Nutra Positive, Allosteric regulator, Inhibition, Inhibitor, binder 97
Acamprosate Approved, Investigational Pharma Transporter 41
gamma-Aminobutyric acid Approved, Investigational Pharma Transporter 27

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

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

Transcripts for SLC36A1 Gene

mRNA/cDNA for SLC36A1 Gene

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

CRISPR Products

Clone 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

Expression for SLC36A1 Gene

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



Protein tissue co-expression partners for SLC36A1 Gene

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

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 31 30
  • 99.72 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC36A1 31 30
  • 90.69 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLC36A1 31 30
  • 88.24 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Slc36a1 17 31 30
  • 85.68 (n)
rat
(Rattus norvegicus)
Mammalia Slc36a1 30
  • 84.56 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC36A1 31
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 73 (a)
OneToMany
chicken
(Gallus gallus)
Aves SLC36A1 30
  • 75.31 (n)
-- 31
  • 69 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 73 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia slc36a1 30
  • 66.26 (n)
zebrafish
(Danio rerio)
Actinopterygii slc36a1 31 30
  • 64.19 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG13384 31
  • 38 (a)
ManyToMany
CG1139 31
  • 35 (a)
ManyToMany
CG7888 31
  • 33 (a)
ManyToMany
CG16700 31
  • 33 (a)
ManyToMany
CG8785 31
  • 31 (a)
ManyToMany
path 31
  • 30 (a)
ManyToMany
CG32079 31
  • 29 (a)
ManyToMany
CG4991 31
  • 29 (a)
ManyToMany
CG43693 31
  • 27 (a)
ManyToMany
CG12943 31
  • 26 (a)
ManyToMany
CG32081 31
  • 26 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea Y43F4B.7 31
  • 32 (a)
ManyToMany
T27A1.5 31
  • 32 (a)
ManyToMany
C44B7.6 31
  • 26 (a)
ManyToMany
H32K16.1 31
  • 26 (a)
ManyToMany
Y38H6C.17 31
  • 25 (a)
ManyToMany
F59B2.2 31
  • 23 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR051C 30
  • 44.68 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AVT3 31 30
  • 43.07 (n)
ManyToMany
AVT4 33 31
  • 18 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E13795g 30
  • 42.56 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03783 30
  • 47.3 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 44 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes avt3 30
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SLC36A1: view image

Paralogs for SLC36A1 Gene

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

  • S36A1_HUMAN
  • D3DQH7_HUMAN
  • E5RG64_HUMAN
  • E5RHG5_HUMAN
  • E5RI40_HUMAN
  • E7EW39_HUMAN
  • H0YB60_HUMAN
  • H0YBS2_HUMAN
genes like me logo Genes that share paralogs with SLC36A1: view

Variants for SLC36A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC36A1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
708099 Likely Benign: not provided 151,545,401(+) G/A MISSENSE_VARIANT
708910 Likely Benign: not provided 151,553,357(+) G/A MISSENSE_VARIANT
708985 Benign: not provided 151,546,287(+) G/C MISSENSE_VARIANT
709215 Benign: not provided 151,542,739(+) T/C SYNONYMOUS_VARIANT
709392 Likely Benign: not provided 151,540,596(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SLC36A1 Gene

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)

Additional Variant Information 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

(3) MalaCards diseases for SLC36A1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia 45
  • sca45
iminoglycinuria
  • iminoglycinuria, digenic
hartnup disorder
  • hnd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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 (The Journal of biological chemistry 2009) 3 4 23 54
  2. Organization and expression of the SLC36 cluster of amino acid transporter genes. (PMID: 15058382) Bermingham JR … Pennington J (Mammalian genome : official journal of the International Mammalian Genome Society 2004) 3 4 26 54
  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 23 54
  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 (The Journal of physiology 2003) 3 4 23 54
  5. The role of N-glycosylation in transport function and surface targeting of the human solute carrier PAT1. (PMID: 19409386) Dorn M … Bosse-Doenecke E (FEBS letters 2009) 3 23 54

Products for SLC36A1 Gene

Sources for SLC36A1 Gene