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Aliases for SLC36A1 Gene

Aliases for SLC36A1 Gene

  • Solute Carrier Family 36 Member 1 2 3 4
  • Solute Carrier Family 36 (Proton/Amino Acid Symporter), Member 1 2 3 5
  • 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 iminoglycinuria, digenic. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Protein digestion and absorption. GO annotations related to this gene include symporter activity and L-alanine transmembrane transporter activity. An important paralog of this gene is SLC36A3.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC36A1 Gene

Genomics for SLC36A1 Gene

Regulatory Elements for SLC36A1 Gene

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

Proteomics data for SLC36A1 Gene at MOPED

Post-translational modifications for SLC36A1 Gene

  • Glycosylation at Asn 174, Asn 183, and Asn 470
  • Modification sites at PhosphoSitePlus

Antibody Products

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:0015187 glycine transmembrane transporter activity IBA --
GO:0015193 L-proline 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

In Situ Assay 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
Jensen Localization Image for SLC36A1 Gene COMPARTMENTS Subcellular localization image for SLC36A1 gene
Compartment Confidence
lysosome 5
plasma membrane 5
vacuole 5
endoplasmic reticulum 4
endosome 1

No data available for Gene Ontology (GO) - Cellular Components for SLC36A1 Gene

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:0006811 ion transport TAS --
GO:0015808 L-alanine transport IEA --
GO:0035524 proline transmembrane transport IEA --
GO:0055085 transmembrane transport TAS --
GO:1902600 hydrogen ion transmembrane transport IEA,IBA --
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, HMDB, Novoseek, IUPHAR, and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycine Approved Nutra Full agonist, Agonist, Target Endogenous potentiator, co-transmitter 94
L-Alanine Approved Nutra Full agonist, Agonist, Target Glycine receptor agonist 0
L-Tryptophan Approved 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: Novoseek and IUPHAR

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:

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 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



SOURCE GeneReport for Unigene cluster for SLC36A1 Gene Hs.269004

genes like me logo Genes that share expression patterns with SLC36A1: view

Protein tissue co-expression partners for SLC36A1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt 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 36
  • 100 (a)
OneToOne
SLC36A1 35
  • 99.72 (n)
  • 99.79 (a)
cow
(Bos Taurus)
Mammalia SLC36A1 35
  • 88.24 (n)
  • 89.29 (a)
SLC36A1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC36A1 36
  • 94 (a)
OneToOne
SLC36A1 35
  • 90.69 (n)
  • 93.7 (a)
mouse
(Mus musculus)
Mammalia Slc36a1 16
Slc36a1 36
  • 86 (a)
OneToOne
Slc36a1 35
  • 85.68 (n)
  • 86.11 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC36A1 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 73 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Slc36a1 35
  • 84.56 (n)
  • 85.89 (a)
chicken
(Gallus gallus)
Aves SLC36A1 35
  • 75.31 (n)
  • 75.16 (a)
-- 36
  • 69 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 73 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia slc36a1 35
  • 66.26 (n)
  • 66.26 (a)
zebrafish
(Danio rerio)
Actinopterygii slc36a1 36
  • 61 (a)
OneToMany
slc36a1 35
  • 64.19 (n)
  • 64.49 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1139 36
  • 35 (a)
ManyToMany
CG12943 36
  • 26 (a)
ManyToMany
CG13384 36
  • 38 (a)
ManyToMany
CG16700 36
  • 33 (a)
ManyToMany
CG32079 36
  • 29 (a)
ManyToMany
CG32081 36
  • 26 (a)
ManyToMany
CG43693 36
  • 27 (a)
ManyToMany
CG4991 36
  • 29 (a)
ManyToMany
CG7888 36
  • 33 (a)
ManyToMany
CG8785 36
  • 31 (a)
ManyToMany
path 36
  • 30 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea C44B7.6 36
  • 26 (a)
ManyToMany
F59B2.2 36
  • 23 (a)
ManyToMany
H32K16.1 36
  • 26 (a)
ManyToMany
T27A1.5 36
  • 32 (a)
ManyToMany
Y38H6C.17 36
  • 25 (a)
ManyToMany
Y43F4B.7 36
  • 32 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR051C 35
  • 44.68 (n)
  • 34.05 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AVT3 35
  • 43.07 (n)
  • 32.18 (a)
AVT3 36
  • 15 (a)
ManyToMany
AVT4 36
  • 18 (a)
ManyToMany
AVT4 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E13795g 35
  • 42.56 (n)
  • 30.11 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03783 35
  • 47.3 (n)
  • 30.15 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes avt3 35
  • 41.51 (n)
  • 32.64 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
OneToMany
Species with no ortholog for SLC36A1:
  • 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
rs9687945 - 151,479,416(+) TTCTT(C/G/T)GTGTC nc-transcript-variant, reference, missense
rs1175 -- 151,492,234(+) TGTTA(C/T)GTGCC intron-variant, utr-variant-3-prime
rs151755 -- 151,486,297(+) cccac(A/G)actca intron-variant
rs189615 -- 151,468,043(+) ctgag(A/G)tcagg intron-variant
rs152722 -- 151,473,851(-) TGTTT(C/G)CTCAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv883033 CNV Gain 21882294
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

HapMap Linkage Disequilibrium report
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

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. 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 67
  2. Vigabatrin transport across the human intestinal epithelial (Caco-2) brush-border membrane is via the H+ -coupled amino-acid transporter hPAT1. (PMID: 16331283) Abbot E.L. … Thwaites D.T. (Br. J. Pharmacol. 2006) 3 23 25
  3. The molecular basis of neutral aminoacidurias. (PMID: 16052352) BrAPer A. … BrAPer S. (Pflugers Arch. 2006) 23 25 26
  4. Isolation and function of the amino acid transporter PAT1 (slc36a1) from rabbit and discrimination between transport via PAT1 and system IMINO in renal brush-border membrane vesicles. (PMID: 16373326) Miyauchi S. … Thwaites D.T. (Mol. Membr. Biol. 2005) 23 25 26
  5. Organization and expression of the SLC36 cluster of amino acid transporter genes. (PMID: 15058382) Bermingham J.R. Jr. … Pennington J. (Mamm. Genome 2004) 3 25 26

Products for SLC36A1 Gene

Sources for SLC36A1 Gene

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