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

Gene ID: 50651, updated on 5-Mar-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (8318114..8344165)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (7849807..7876669)
105.20220307 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 (11) 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 variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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 galactose:proton symporter activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables glucose:proton symporter activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables glucose: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 galactose transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in glucose transmembrane transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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, Q5VY46, Q5VY49, Q9Y2W3
    UniProtKB/TrEMBL
    A0A2H2EQP0
    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
    UniProtKB/Swiss-Prot
    A0A0A0MT80, Q5VY46, Q5VY49, Q9Y2W3
    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
    UniProtKB/Swiss-Prot
    A0A0A0MT80, Q5VY46, Q5VY49, Q9Y2W3
    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
    UniProtKB/Swiss-Prot
    A0A0A0MT80, Q5VY46, Q5VY49, Q9Y2W3
    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_2023_10

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
Q9Y2W3.5 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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