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    SLC45A1 solute carrier family 45 member 1 [ Homo sapiens (human) ]

    Gene ID: 50651, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SLC45A1provided by HGNC
    Official Full Name
    solute carrier family 45 member 1provided by HGNC
    Primary source
    HGNC:HGNC:17939
    See related
    Ensembl:ENSG00000162426 MIM:605763; AllianceGenome:HGNC:17939
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DNB5; IDDNPF; PAST-A
    Summary
    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]
    Expression
    Broad expression in brain (RPKM 4.3), endometrium (RPKM 1.5) and 19 other tissues See more
    Orthologs
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    Genomic context

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    See SLC45A1 in Genome Data Viewer
    Location:
    1p36.23
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (8318114..8344165)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (7849807..7876669)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (8378174..8404225)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376695 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:8300112-8300667 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:8299555-8300111 Neighboring gene uncharacterized LOC124903835 Neighboring gene Sharpr-MPRA regulatory region 9077 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:8326586-8327356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 101 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:8348386-8348886 Neighboring gene MPRA-validated peak46 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 192 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 193 Neighboring gene RNA, U6 small nuclear 991, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 194 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:8402936-8403676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:8409923-8410743 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:8419297-8419798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:8419799-8420298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:8424721-8425691 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:8427517-8428017 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:8429621-8430609 Neighboring gene Sharpr-MPRA regulatory region 599 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 102 Neighboring gene arginine-glutamic acid dipeptide repeats Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 195 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 196 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 103 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:8509073-8509572 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:8510477-8510976 Neighboring gene RERE antisense RNA 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:8519688-8520585 Neighboring gene small nucleolar RNA, C/D box 128

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification and characterization of novel genes located at the t(1;15)(p36.2;q24) translocation breakpoint in the neuroblastoma cell line NGP. Amler LC, et al. Genomics, 2000 Mar 1. PMID 10729226
    2. Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy. Srour M, et al. Am J Hum Genet, 2017 May 4. PMID 28434495, Free PMC Article
    3. A genome-wide scan for breast cancer risk haplotypes among African American women. Song C, et al. PLoS One, 2013. PMID 23468962, Free PMC Article
    4. Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. Guan W, et al. Circ Cardiovasc Genet, 2014 Jun. PMID 24823311, Free PMC Article
    5. Genomic annotation of 15,809 ESTs identified from pooled early gestation human eyes. Choy KW, et al. Physiol Genomics, 2006 Mar 13. PMID 16368877

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Intellectual developmental disorder with neuropsychiatric features
    MedGen: C4479636 OMIM: 617532 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    A genome-wide scan for breast cancer risk haplotypes among African American women.
    EBI GWAS Catalog
    Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
    EBI GWAS Catalog
    Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
    EBI GWAS Catalog

    Variation

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    See Variation Viewer (GRCh37.p13)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ26758, KIAA0458

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables D-glucose:proton symporter activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables D-glucose:proton symporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables galactose:proton symporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables sucrose:proton symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in D-glucose transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in galactose transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in sucrose transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    proton-associated sugar transporter A
    Names
    H+/sugar symporter
    deleted in neuroblastoma 5 protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_034025.1 RefSeqGene

      Range
      5030..31081
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001080397.3 → NP_001073866.3  proton-associated sugar transporter A isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL356072, BU527858, BY798065, HY013542, HY328991
      Consensus CDS
      CCDS30577.3
      UniProtKB/Swiss-Prot
      A0A0A0MT80, A0A2H2EQP0, Q5VY46, Q5VY49, Q9Y2W3
      Related
      ENSP00000418096.3, ENST00000471889.7
      Conserved Domains (1) summary
      cd17313
      Location:87 → 722
      MFS_SLC45_SUC; Solute carrier family 45 and similar sugar transporters of the Major Facilitator Superfamily of transporters

    2. NM_001379614.1 → NP_001366543.1  proton-associated sugar transporter A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL356072
      Conserved Domains (1) summary
      cl28910
      Location:87 → 730
      MFS; Major Facilitator Superfamily

    3. NM_001379615.1 → NP_001366544.1  proton-associated sugar transporter A isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL356072
      Conserved Domains (1) summary
      cl28910
      Location:469 → 699
      MFS; Major Facilitator Superfamily

    4. NM_001379616.1 → NP_001366545.1  proton-associated sugar transporter A isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL356072
      Conserved Domains (1) summary
      cl28910
      Location:87 → 691
      MFS; Major Facilitator Superfamily

    5. NM_001379617.1 → NP_001366546.1  proton-associated sugar transporter A isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL356072
      Conserved Domains (1) summary
      cl28910
      Location:298 → 528
      MFS; Major Facilitator Superfamily

    6. NM_001379618.1 → NP_001366547.1  proton-associated sugar transporter A isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL356072
      Related
      ENST00000497660.5
      Conserved Domains (1) summary
      cl28910
      Location:298 → 520
      MFS; Major Facilitator Superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      8318114..8344165
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421726.1 → XP_047277682.1  proton-associated sugar transporter A isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      7849807..7876669
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336833.1 → XP_054192808.1  proton-associated sugar transporter A isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y2W3.6 GenPept UniProtKB/Swiss-Prot:Q9Y2W3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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