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

Gene ID: 64078, updated on 17-Sep-2017
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; Vega:OTTHUMG00000020117
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]
Orthologs
Location:
9q21.32-q21.33
Exon count:
22
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 9 NC_000009.12 (84273123..84368634, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (86890765..86983413, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes 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 uncharacterized LOC105376116 Neighboring gene uncharacterized LOC102724036 Neighboring gene neurotrophic receptor tyrosine kinase 2

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

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

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
nucleoside:sodium symporter activity TAS
Traceable Author Statement
more info
 
purine-specific nucleoside:sodium symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 
pyrimidine- and adenine-specific:sodium symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
purine nucleobase transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
purine nucleoside transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
pyrimidine nucleobase transport IEA
Inferred from Electronic Annotation
more info
 
pyrimidine nucleoside transport IBA
Inferred from Biological aspect of Ancestor
more info
 
pyrimidine-containing compound transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
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

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_001199633.1NP_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, DB218604, DB237216
    Consensus CDS
    CCDS6670.1
    UniProtKB/Swiss-Prot
    Q9HAS3
    Related
    ENSP00000365413.4, OTTHUMP00000021567, ENST00000376238.4, OTTHUMT00000052874
    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_022127.2NP_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
    Consensus CDS
    CCDS6670.1
    UniProtKB/Swiss-Prot
    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_037638.2 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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p7 Primary Assembly

    Range
    84273123..84368634 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518907.2XP_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_011518906.2XP_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_011518905.2XP_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_011518908.2XP_011517210.1  solute carrier family 28 member 3 isoform X3

    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_011518910.2XP_011517212.1  solute carrier family 28 member 3 isoform X4

    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
  6. XM_011518909.2XP_011517211.1  solute carrier family 28 member 3 isoform X4

    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

RNA

  1. XR_929832.2 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 Alternate CHM1_1.1

    Range
    87037314..87129976 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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