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SLC23A3 solute carrier family 23 member 3 [ Homo sapiens (human) ]

Gene ID: 151295, updated on 24-Nov-2020

Summary

Official Symbol
SLC23A3provided by HGNC
Official Full Name
solute carrier family 23 member 3provided by HGNC
Primary source
HGNC:HGNC:20601
See related
Ensembl:ENSG00000213901
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
E2BP3; SVCT3; Yspl1
Expression
Biased expression in kidney (RPKM 21.8), small intestine (RPKM 10.2) and 3 other tissues See more
Orthologs

Genomic context

See SLC23A3 in Genome Data Viewer
Location:
2q35
Exon count:
12
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (219161465..219170029, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (220026181..220035549, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene microRNA 3131 Neighboring gene Indian hedgehog signaling molecule Neighboring gene non-homologous end joining factor 1 Neighboring gene RNA, 7SL, cytoplasmic 764, pseudogene Neighboring gene cyclin Pas1/PHO80 domain containing 1 Neighboring gene reticulophagy regulator family member 2 Neighboring gene zinc finger AN1-type containing 2B

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Many sequence variants affecting diversity of adult human height.
GeneReviews: Not available
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: NHEJ1

Homology

Clone Names

  • FLJ31168

Gene Ontology Provided by GOA

Function Evidence Code Pubs
transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
solute carrier family 23 member 3
Names
E2-binding protein 3
HPC E2-binding protein 3
Na(+)/L-ascorbic acid transporter 3
sodium-dependent vitamin C transporter 3
solute carrier family 23 (nucleobase transporters), member 3

NCBI Reference Sequences (RefSeq)

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_001144889.2NP_001138361.1  solute carrier family 23 member 3 isoform 2

    See identical proteins and their annotated locations for NP_001138361.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses alternate in-frame splice sites and contains an alternate in-frame exon, compared to variant 1. The resulting protein (isoform 2) is longer than isoform 1.
    Source sequence(s)
    AC068946, AK298256, DC361649
    Consensus CDS
    CCDS46518.1
    UniProtKB/Swiss-Prot
    Q6PIS1
    UniProtKB/TrEMBL
    B7Z508
    Related
    ENSP00000386473.3, ENST00000409878.7
    Conserved Domains (2) summary
    pfam00860
    Location:77473
    Xan_ur_permease; Permease family
    cl23746
    Location:43513
    HCO3_cotransp; HCO3- transporter family
  2. NM_001144890.2NP_001138362.1  solute carrier family 23 member 3 isoform 3

    See identical proteins and their annotated locations for NP_001138362.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses alternate in-frame splices sites in the 5' coding region and contains an alternate in-frame exon, compared to variant 1. The resulting protein (isoform 3) is longer compared to isoform 1.
    Source sequence(s)
    AC068946, AK298277, DC361649
    Consensus CDS
    CCDS46517.1
    UniProtKB/Swiss-Prot
    Q6PIS1
    Related
    ENSP00000406546.2, ENST00000455516.6
    Conserved Domains (2) summary
    pfam00860
    Location:77481
    Xan_ur_permease; Permease family
    cl23746
    Location:43521
    HCO3_cotransp; HCO3- transporter family
  3. NM_144712.5NP_653313.3  solute carrier family 23 member 3 isoform 1

    See identical proteins and their annotated locations for NP_653313.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shortest transcript and encodes the shortest isoform (1).
    Source sequence(s)
    AC068946, BC030243, DC361649
    Consensus CDS
    CCDS42819.1
    UniProtKB/Swiss-Prot
    Q6PIS1
    Related
    ENSP00000295738.7, ENST00000295738.11
    Conserved Domains (2) summary
    pfam00860
    Location:77356
    Xan_ur_permease; Permease family
    cl23746
    Location:270390
    HCO3_cotransp; HCO3- transporter family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    219161465..219170029 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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