This gene was isolated initially from a region on chromosome 1p that is frequently deleted in human neuroblastoma, although no causal relationship has since been demonstrated. The encoded protein belongs to the glycoside-pentoside-hexuronide cation symporter transporter family and may play a role in glucose uptake. [provided by RefSeq, Mar 2014] See more...

Aliases for SLC45A1 Gene

Aliases for SLC45A1 Gene

  • Solute Carrier Family 45 Member 1 2 3 4 5
  • Proton-Associated Sugar Transporter A 3 4
  • Deleted In Neuroblastoma 5 Protein 3 4
  • H+/Sugar Symporter 2 3
  • PAST-A 3 4
  • DNB5 3 4
  • Solute Carrier Family 45, Member 1 2
  • Deleted In Neuroblastoma 5 2
  • IDDNPF 3
  • DNb-5 4

External Ids for SLC45A1 Gene

Previous HGNC Symbols for SLC45A1 Gene

  • DNB5

Previous GeneCards Identifiers for SLC45A1 Gene

  • GC01P008313
  • GC01P008300
  • GC01P007532
  • GC01P008377

Summaries for SLC45A1 Gene

Entrez Gene Summary for SLC45A1 Gene

  • This gene was isolated initially from a region on chromosome 1p that is frequently deleted in human neuroblastoma, although no causal relationship has since been demonstrated. The encoded protein belongs to the glycoside-pentoside-hexuronide cation symporter transporter family and may play a role in glucose uptake. [provided by RefSeq, Mar 2014]

GeneCards Summary for SLC45A1 Gene

SLC45A1 (Solute Carrier Family 45 Member 1) is a Protein Coding gene. Diseases associated with SLC45A1 include Intellectual Developmental Disorder With Neuropsychiatric Features and Autosomal Recessive Non-Syndromic Intellectual Disability. Gene Ontology (GO) annotations related to this gene include symporter activity. An important paralog of this gene is SLC45A4.

UniProtKB/Swiss-Prot Summary for SLC45A1 Gene

Additional gene information for SLC45A1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC45A1 Gene

Genomics for SLC45A1 Gene

GeneHancer (GH) Regulatory Elements for SLC45A1 Gene

Promoters and enhancers for SLC45A1 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
GH01J008317 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas 505.3 0.0 -25 2.4 HNRNPK EP300 ZIC2 REST ZNF623 ZBTB26 TARDBP CTBP1 ATF2 RBM25 SLC45A1 RERE lnc-SLC45A1-3
GH01J009291 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 27.7 +976.2 976163 5.1 FOXK2 ZSCAN5C NRF1 POLR2G SP1 FOS ZFX ZNF639 CTCF ZIC2 SPSB1 SLC45A1 CLSTN1 RERE-AS1 HE855948
GH01J008115 Enhancer 1.6 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 28.3 -198.3 -198347 8.5 EP300 TCF12 POLR2G NCOR1 FOS PHB2 KDM6A ZBTB11 TCF7 ZNF623 RF00017-026 SLC45A1 ENSG00000238290 PARK7 RERE lnc-PARK7-4
GH01J008013 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.4 -296.4 -296397 15.9 EP300 ZNF217 CTCF TCF12 NRF1 POLR2G SP1 NCOR1 JUND FOS ERRFI1 ENSG00000238290 PARK7 SLC45A1 RERE-AS1 ENSG00000236266 UTS2 HSALNG0000596
GH01J008869 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.9 +558.0 557964 11.8 RXRA HNRNPK ZBTB40 EP300 CTCF ZSCAN5C SIN3A MYC NRF1 POLR2G ENO1 RERE GPR157 RERE-AS1 CLSTN1 PIK3CD-AS2 MIR34AHG SLC45A1 H6PD ENO1-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC45A1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC45A1

Top Transcription factor binding sites by QIAGEN in the SLC45A1 gene promoter:
  • AML1a
  • c-Myb
  • GATA-2
  • NRF-2
  • Pax-2
  • Pax-2a
  • SEF-1 (1)
  • Sp1
  • USF-1
  • USF1

Genomic Locations for SLC45A1 Gene

Genomic Locations for SLC45A1 Gene
chr1:8,317,826-8,344,167
(GRCh38/hg38)
Size:
26,342 bases
Orientation:
Plus strand
chr1:8,377,886-8,404,227
(GRCh37/hg19)
Size:
26,342 bases
Orientation:
Plus strand

Genomic View for SLC45A1 Gene

Genes around SLC45A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC45A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC45A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC45A1 Gene

Proteins for SLC45A1 Gene

  • Protein details for SLC45A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2W3-S45A1_HUMAN
    Recommended name:
    Proton-associated sugar transporter A
    Protein Accession:
    Q9Y2W3
    Secondary Accessions:
    • A0A0A0MT80
    • Q5VY46
    • Q5VY49

    Protein attributes for SLC45A1 Gene

    Size:
    782 amino acids
    Molecular mass:
    84541 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD27583.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

neXtProt entry for SLC45A1 Gene

Post-translational modifications for SLC45A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC45A1 Gene

No data available for DME Specific Peptides for SLC45A1 Gene

Domains & Families for SLC45A1 Gene

Gene Families for SLC45A1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC45A1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC45A1 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 45 member 1 (S45A1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y2W3

UniProtKB/Swiss-Prot:

S45A1_HUMAN :
  • Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family.
Family:
  • Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family.
genes like me logo Genes that share domains with SLC45A1: view

Function for SLC45A1 Gene

Molecular function for SLC45A1 Gene

UniProtKB/Swiss-Prot Function:
Proton-associated glucose transporter in the brain.

Phenotypes From GWAS Catalog for SLC45A1 Gene

Gene Ontology (GO) - Molecular Function for SLC45A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008506 sucrose:proton symporter activity IBA 21873635
GO:0015293 symporter activity IEA --
genes like me logo Genes that share ontologies with SLC45A1: view

Phenotypes for SLC45A1 Gene

genes like me logo Genes that share phenotypes with SLC45A1: view

Human Phenotype Ontology for SLC45A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for SLC45A1 Gene

miRTarBase miRNAs that target SLC45A1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC45A1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC45A1 Gene

Localization for SLC45A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC45A1 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 SLC45A1 gene
Compartment Confidence
plasma membrane 4
extracellular 1
nucleus 1
cytosol 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for SLC45A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IEA --
GO:0016020 membrane IEA,IBA 21873635
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC45A1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC45A1 Gene

Pathways & Interactions for SLC45A1 Gene

PathCards logo

SuperPathways for SLC45A1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SLC45A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008643 carbohydrate transport IEA --
GO:0015770 sucrose transport IEA --
GO:0055085 transmembrane transport IEA --
GO:1904659 glucose transmembrane transport IMP 28434495
genes like me logo Genes that share ontologies with SLC45A1: view

No data available for Pathways by source and SIGNOR curated interactions for SLC45A1 Gene

Drugs & Compounds for SLC45A1 Gene

No Compound Related Data Available

Transcripts for SLC45A1 Gene

mRNA/cDNA for SLC45A1 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
4 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 SLC45A1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC45A1 Gene

No ASD Table

Relevant External Links for SLC45A1 Gene

GeneLoc Exon Structure for
SLC45A1

Expression for SLC45A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC45A1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC45A1

SOURCE GeneReport for Unigene cluster for SLC45A1 Gene:

Hs.463036

mRNA Expression by UniProt/SwissProt for SLC45A1 Gene:

Q9Y2W3-S45A1_HUMAN
Tissue specificity: Expressed in adult heart, brain, muscle and kidney, with very strong expression in brain. Also expressed in fetal brain, kidney and lung.
genes like me logo Genes that share expression patterns with SLC45A1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC45A1 Gene

Orthologs for SLC45A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC45A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC45A1 31 30
  • 99.24 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC45A1 31 30
  • 87.91 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLC45A1 31 30
  • 87.39 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc45a1 30
  • 85.77 (n)
mouse
(Mus musculus)
Mammalia Slc45a1 17 31 30
  • 85.45 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC45A1 31
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC45A1 31
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 31
  • 79 (a)
OneToMany
-- 31
  • 78 (a)
OneToMany
SLC45A1 30
  • 72.56 (n)
lizard
(Anolis carolinensis)
Reptilia SLC45A1 31
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc45a1 30
  • 67.89 (n)
Str.15583 30
zebrafish
(Danio rerio)
Actinopterygii slc45a1 31
  • 64 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000137 30
  • 54.75 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG41087 31
  • 34 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 40 (a)
OneToOne
Species where no ortholog for SLC45A1 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for SLC45A1 Gene

ENSEMBL:
Gene Tree for SLC45A1 (if available)
TreeFam:
Gene Tree for SLC45A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC45A1: view image

Paralogs for SLC45A1 Gene

Paralogs for SLC45A1 Gene

(1) SIMAP similar genes for SLC45A1 Gene using alignment to 1 proteins:

  • S45A1_HUMAN
genes like me logo Genes that share paralogs with SLC45A1: view

Variants for SLC45A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC45A1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs137918218 Uncertain Significance: not provided 8,330,643(+) G/T MISSENSE_VARIANT
rs141816307 Intellectual developmental disorder with neuropsychiatric features (IDDNPF) [MIM:617532] p.Ile90Thr
rs150539474 Pathogenic: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES. Intellectual developmental disorder with neuropsychiatric features (IDDNPF) [MIM:617532] 8,325,956(+) C/Tp.Ala244Val MISSENSE_VARIANT
rs1553150797 Likely Benign: not provided 8,330,941(+) C/G INTRON_VARIANT
rs766999940 Uncertain Significance: not provided 8,343,990(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SLC45A1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC45A1 Gene

Variant ID Type Subtype PubMed ID
esv1250756 CNV insertion 17803354
esv2601359 CNV insertion 19546169
nsv1012977 CNV loss 25217958
nsv1743 CNV insertion 18451855
nsv512716 CNV insertion 21212237
nsv516827 CNV loss 19592680

Variation tolerance for SLC45A1 Gene

Residual Variation Intolerance Score: 10.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.86; 34.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC45A1 Gene

Human Gene Mutation Database (HGMD)
SLC45A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC45A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC45A1 Gene

Disorders for SLC45A1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SLC45A1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
intellectual developmental disorder with neuropsychiatric features
  • iddnpf
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
neuroblastoma 5
  • neuroblastoma, susceptibility to, 5
neuroblastoma
  • nb
epilepsy
  • epilepsy syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S45A1_HUMAN
  • Intellectual developmental disorder with neuropsychiatric features (IDDNPF) [MIM:617532]: An autosomal recessive disorder characterized by moderate to severe intellectual disability, epilepsy, and variable neuropsychiatric features, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphism may also be present. {ECO:0000269 PubMed:28434495}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SLC45A1

genes like me logo Genes that share disorders with SLC45A1: view

No data available for Genatlas for SLC45A1 Gene

Publications for SLC45A1 Gene

  1. Identification and characterization of novel genes located at the t(1;15)(p36.2;q24) translocation breakpoint in the neuroblastoma cell line NGP. (PMID: 10729226) Amler LC … Hampton GM (Genomics 2000) 2 3 4 54
  2. Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy. (PMID: 28434495) Srour M … Michaud JL (American journal of human genetics 2017) 3 4 54
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54
  4. Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. (PMID: 27431290) Anazi S … Alkuraya FS (Molecular psychiatry 2017) 4 54
  5. Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. (PMID: 24823311) Guan W … Steffen LM (Circulation. Cardiovascular genetics 2014) 3 54

Products for SLC45A1 Gene

Sources for SLC45A1 Gene