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SLC28A3 solute carrier family 28 member 3 [ Homo sapiens (human) ]

Gene ID: 64078, updated on 2-Nov-2024

Summary

Official Symbol
SLC28A3provided by HGNC
Official Full Name
solute carrier family 28 member 3provided by HGNC
Primary source
HGNC:HGNC:16484
See related
Ensembl:ENSG00000197506 MIM:608269; AllianceGenome:HGNC:16484
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CNT3
Summary
Nucleoside transporters, such as SLC28A3, regulate multiple cellular processes, including neurotransmission, vascular tone, adenosine concentration in the vicinity of cell surface receptors, and transport and metabolism of nucleoside drugs. SLC28A3 shows broad specificity for pyrimidine and purine nucleosides (Ritzel et al., 2001 [PubMed 11032837]).[supplied by OMIM, Mar 2008]
Expression
Biased expression in gall bladder (RPKM 4.2), bone marrow (RPKM 3.2) and 11 other tissues See more
Orthologs
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Genomic context

See SLC28A3 in Genome Data Viewer
Location:
9q21.32-q21.33
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (84275457..84368727, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (96425798..96519059, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (86890372..86983642, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:86595393-86595900 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:86595901-86596409 Neighboring gene heterogeneous nuclear ribonucleoprotein K Neighboring gene uncharacterized LOC101927575 Neighboring gene RecQ mediated genome instability 1 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 33 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:86766071-86767007 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:86787894-86788403 Neighboring gene Sharpr-MPRA regulatory region 11289 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19983 Neighboring gene NANOG hESC enhancer GRCh37_chr9:86891619-86892170 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:86892303-86893502 Neighboring gene SLC28A3 regulatory antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28502 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28503 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28504 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:86916903-86918102 Neighboring gene SLC28A3 intron nontranscribed chromatin-defined enhancer Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:86991346-86991846 Neighboring gene uncharacterized LOC102724036 Neighboring gene uncharacterized LOC124902192 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19984 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:87127109-87128308 Neighboring gene NANOG hESC enhancer GRCh37_chr9:87185076-87185832 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_108369 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19985 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28507 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28508 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:87323096-87324014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28509 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28510 Neighboring gene neurotrophic receptor tyrosine kinase 2 Neighboring gene uncharacterized LOC124902193

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.
EBI GWAS Catalog
Genome-wide association of lipid-lowering response to statins in combined study populations.
EBI GWAS Catalog
Genome-wide association study (GWAS) for molar-incisor hypomineralization (MIH).
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in brush border membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
solute carrier family 28 member 3
Names
concentrative Na(+)-nucleoside cotransporter 3
concentrative Na+-nucleoside cotransporter
solute carrier family 28 (concentrative nucleoside transporter), member 3
solute carrier family 28 (sodium-coupled nucleoside transporter), member 3

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.

mRNA and Protein(s)

  1. NM_001199633.2NP_001186562.1  solute carrier family 28 member 3

    See identical proteins and their annotated locations for NP_001186562.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AA643687, AF305210, AK022042, AK314039, AL356134
    Consensus CDS
    CCDS6670.1
    UniProtKB/Swiss-Prot
    A8K9Y4, B1AML0, B2RA51, B4E2S8, F5GYE3, Q9HAS3
    Related
    ENSP00000365413.4, ENST00000376238.5
    Conserved Domains (4) summary
    TIGR00804
    Location:201612
    nupC; nucleoside transporter
    pfam01773
    Location:206275
    Nucleos_tra2_N; Na+ dependent nucleoside transporter N-terminus
    pfam07662
    Location:388612
    Nucleos_tra2_C; Na+ dependent nucleoside transporter C-terminus
    pfam07670
    Location:287383
    Gate; Nucleoside recognition
  2. NM_022127.3NP_071410.1  solute carrier family 28 member 3

    See identical proteins and their annotated locations for NP_071410.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AA643687, AF305210, AK022042, AL353787, AL356134
    Consensus CDS
    CCDS6670.1
    UniProtKB/Swiss-Prot
    A8K9Y4, B1AML0, B2RA51, B4E2S8, F5GYE3, Q9HAS3
    Conserved Domains (4) summary
    TIGR00804
    Location:201612
    nupC; nucleoside transporter
    pfam01773
    Location:206275
    Nucleos_tra2_N; Na+ dependent nucleoside transporter N-terminus
    pfam07662
    Location:388612
    Nucleos_tra2_C; Na+ dependent nucleoside transporter C-terminus
    pfam07670
    Location:287383
    Gate; Nucleoside recognition

RNA

  1. NR_037638.3 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) includes an alternate exon in the coding region compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA643687, AF305210, AK022042, AK304406, AL353787, AL356134

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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    84275457..84368727 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518907.3XP_011517209.1  solute carrier family 28 member 3 isoform X2

    Conserved Domains (4) summary
    TIGR00804
    Location:118529
    nupC; nucleoside transporter
    pfam01773
    Location:123192
    Nucleos_tra2_N; Na+ dependent nucleoside transporter N-terminus
    pfam07662
    Location:305529
    Nucleos_tra2_C; Na+ dependent nucleoside transporter C-terminus
    pfam07670
    Location:204300
    Gate; Nucleoside recognition
  2. XM_011518906.3XP_011517208.1  solute carrier family 28 member 3 isoform X1

    See identical proteins and their annotated locations for XP_011517208.1

    Conserved Domains (4) summary
    TIGR00804
    Location:229640
    nupC; nucleoside transporter
    pfam01773
    Location:234303
    Nucleos_tra2_N; Na+ dependent nucleoside transporter N-terminus
    pfam07662
    Location:416640
    Nucleos_tra2_C; Na+ dependent nucleoside transporter C-terminus
    pfam07670
    Location:315411
    Gate; Nucleoside recognition
  3. XM_011518905.3XP_011517207.1  solute carrier family 28 member 3 isoform X1

    See identical proteins and their annotated locations for XP_011517207.1

    Conserved Domains (4) summary
    TIGR00804
    Location:229640
    nupC; nucleoside transporter
    pfam01773
    Location:234303
    Nucleos_tra2_N; Na+ dependent nucleoside transporter N-terminus
    pfam07662
    Location:416640
    Nucleos_tra2_C; Na+ dependent nucleoside transporter C-terminus
    pfam07670
    Location:315411
    Gate; Nucleoside recognition
  4. XM_011518908.3XP_011517210.1  solute carrier family 28 member 3 isoform X4

    Conserved Domains (4) summary
    TIGR00804
    Location:11399
    nupC; nucleoside transporter
    pfam01773
    Location:1362
    Nucleos_tra2_N; Na+ dependent nucleoside transporter N-terminus
    pfam07662
    Location:175399
    Nucleos_tra2_C; Na+ dependent nucleoside transporter C-terminus
    pfam07670
    Location:74170
    Gate; Nucleoside recognition
  5. XM_047423712.1XP_047279668.1  solute carrier family 28 member 3 isoform X3

  6. XM_011518910.3XP_011517212.1  solute carrier family 28 member 3 isoform X5

    See identical proteins and their annotated locations for XP_011517212.1

    Conserved Domains (2) summary
    pfam01773
    Location:234303
    Nucleos_tra2_N; Na+ dependent nucleoside transporter N-terminus
    pfam07670
    Location:315370
    Gate; Nucleoside recognition
  7. XM_011518909.3XP_011517211.1  solute carrier family 28 member 3 isoform X5

    See identical proteins and their annotated locations for XP_011517211.1

    Conserved Domains (2) summary
    pfam01773
    Location:234303
    Nucleos_tra2_N; Na+ dependent nucleoside transporter N-terminus
    pfam07670
    Location:315370
    Gate; Nucleoside recognition

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    96425798..96519059 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054363509.1XP_054219484.1  solute carrier family 28 member 3 isoform X2

  2. XM_054363508.1XP_054219483.1  solute carrier family 28 member 3 isoform X1

  3. XM_054363507.1XP_054219482.1  solute carrier family 28 member 3 isoform X1

  4. XM_054363511.1XP_054219486.1  solute carrier family 28 member 3 isoform X4

  5. XM_054363510.1XP_054219485.1  solute carrier family 28 member 3 isoform X3

  6. XM_054363513.1XP_054219488.1  solute carrier family 28 member 3 isoform X5

  7. XM_054363512.1XP_054219487.1  solute carrier family 28 member 3 isoform X5