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    SLC28A1 solute carrier family 28 member 1 [ Homo sapiens (human) ]

    Gene ID: 9154, updated on 28-Oct-2024

    Summary

    Official Symbol
    SLC28A1provided by HGNC
    Official Full Name
    solute carrier family 28 member 1provided by HGNC
    Primary source
    HGNC:HGNC:11001
    See related
    Ensembl:ENSG00000156222 MIM:606207; AllianceGenome:HGNC:11001
    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
    CNT1; HCNT1; URCTU
    Summary
    Enables azole transmembrane transporter activity; pyrimidine- and adenosine-specific:sodium symporter activity; and uridine transmembrane transporter activity. Involved in azole transmembrane transport and nucleoside transport. Located in apical plasma membrane; cytosol; and nuclear speck. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in kidney (RPKM 9.5), small intestine (RPKM 9.4) and 2 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC28A1 in Genome Data Viewer
    Location:
    15q25.3
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (84884662..84975649)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (82637040..82727893)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (85427893..85518880)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85291347-85292186 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9992 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41887 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85303845-85304346 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85309319-85309820 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85309821-85310320 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9993 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85325731-85326318 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85326319-85326906 Neighboring gene zinc finger protein 592 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41909 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85346873-85347374 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85347375-85347874 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85359685-85360215 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85362343-85362874 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85362875-85363404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:85370192-85370692 Neighboring gene skeletal muscle cis-regulatory module overlapping ALPK3 Neighboring gene uncharacterized LOC124900361 Neighboring gene alpha kinase 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85405349-85405850 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:85406419-85406920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:85406921-85407420 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:85426972-85427472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:85427473-85427973 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85432908-85433476 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9994 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:85467385-85467885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9995 Neighboring gene RNA, U6 small nuclear 339, pseudogene Neighboring gene RNA, U6 small nuclear 796, pseudogene Neighboring gene high mobility group box 1 pseudogene 43 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41947 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:85522585-85523086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:85523087-85523586 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6775 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85524736-85525268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9996 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9997 Neighboring gene Sharpr-MPRA regulatory region 10787 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6777 Neighboring gene phosphodiesterase 8A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9998 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9999 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10000 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10001 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41972 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_42025 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:85668261-85668811 Neighboring gene uncharacterized LOC124903545 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_42032 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:85708039-85708575 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6778 Neighboring gene NIFK pseudogene 8

    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

    Associated conditions

    Description Tests
    Uridine-cytidineuria
    MedGen: C4760647 OMIM: 618477 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Genome-wide association analysis of age-at-onset in Alzheimer's disease.
    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 apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in brush border membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    sodium/nucleoside cotransporter 1
    Names
    Na(+)/nucleoside cotransporter 1
    concentrative nucleoside transporter 1
    sodium-coupled nucleoside transporter 1
    solute carrier family 28 (concentrative nucleoside transporter), member 1
    solute carrier family 28 (sodium-coupled nucleoside transporter), member 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001287761.2NP_001274690.1  sodium/nucleoside cotransporter 1 isoform 3

      See identical proteins and their annotated locations for NP_001274690.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 5' UTR and lacks three in-frame exons in the 3' coding region, compared to variant 1. This variant encodes isoform 3, which is shorter than isoform 1.
      Source sequence(s)
      AC087468, AK296075
      Consensus CDS
      CCDS73777.1
      UniProtKB/TrEMBL
      B7Z3L6
      Related
      ENSP00000443752.1, ENST00000538177.5
      Conserved Domains (4) summary
      TIGR00804
      Location:179424
      nupC; nucleoside transporter
      pfam01773
      Location:184253
      Nucleos_tra2_N; Na+ dependent nucleoside transporter N-terminus
      pfam07662
      Location:347424
      Nucleos_tra2_C; Na+ dependent nucleoside transporter C-terminus
      pfam07670
      Location:265361
      Gate; Nucleoside recognition
    2. NM_001287762.2NP_001274691.1  sodium/nucleoside cotransporter 1 isoform 1

      See identical proteins and their annotated locations for NP_001274691.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an exon in the 5' UTR, compared to variant 1, and encodes isoform 1. Variants 1 and 4 encode the same protein.
      Source sequence(s)
      AC087468, AK296075, U62968
      Consensus CDS
      CCDS10334.1
      UniProtKB/Swiss-Prot
      A0AV42, A8K7I2, O00335, O00336, O00337, Q5U5S6, Q5U648, Q9UEZ9
      UniProtKB/TrEMBL
      Q96PL7
      Related
      ENSP00000286749.3, ENST00000286749.3
      Conserved Domains (4) summary
      TIGR00804
      Location:179590
      nupC; nucleoside transporter
      pfam01773
      Location:184253
      Nucleos_tra2_N; Na+ dependent nucleoside transporter N-terminus
      pfam07662
      Location:367590
      Nucleos_tra2_C; Na+ dependent nucleoside transporter C-terminus
      pfam07670
      Location:265361
      Gate; Nucleoside recognition
    3. NM_001321721.2NP_001308650.1  sodium/nucleoside cotransporter 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC087468, AK296074, AK298369
      UniProtKB/TrEMBL
      B7Z3L5, B7Z533
      Conserved Domains (4) summary
      TIGR00804
      Location:179512
      nupC; nucleoside transporter
      pfam01773
      Location:184253
      Nucleos_tra2_N; Na+ dependent nucleoside transporter N-terminus
      pfam07662
      Location:367535
      Nucleos_tra2_C; Na+ dependent nucleoside transporter C-terminus
      pfam07670
      Location:265361
      Gate; Nucleoside recognition
    4. NM_001321722.2NP_001308651.1  sodium/nucleoside cotransporter 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC087468, AK296074, AK298369
      UniProtKB/TrEMBL
      B7Z3L5
      Conserved Domains (4) summary
      TIGR00804
      Location:179590
      nupC; nucleoside transporter
      pfam01773
      Location:184253
      Nucleos_tra2_N; Na+ dependent nucleoside transporter N-terminus
      pfam07662
      Location:367590
      Nucleos_tra2_C; Na+ dependent nucleoside transporter C-terminus
      pfam07670
      Location:265361
      Gate; Nucleoside recognition
    5. NM_004213.5NP_004204.3  sodium/nucleoside cotransporter 1 isoform 1

      See identical proteins and their annotated locations for NP_004204.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Variants 1 and 4 encode the same protein.
      Source sequence(s)
      AC087468, AK296074, U62968
      Consensus CDS
      CCDS10334.1
      UniProtKB/Swiss-Prot
      A0AV42, A8K7I2, O00335, O00336, O00337, Q5U5S6, Q5U648, Q9UEZ9
      UniProtKB/TrEMBL
      Q96PL7
      Related
      ENSP00000378074.1, ENST00000394573.6
      Conserved Domains (4) summary
      TIGR00804
      Location:179590
      nupC; nucleoside transporter
      pfam01773
      Location:184253
      Nucleos_tra2_N; Na+ dependent nucleoside transporter N-terminus
      pfam07662
      Location:367590
      Nucleos_tra2_C; Na+ dependent nucleoside transporter C-terminus
      pfam07670
      Location:265361
      Gate; Nucleoside recognition
    6. NM_201651.3NP_964014.1  sodium/nucleoside cotransporter 1 isoform 2

      See identical proteins and their annotated locations for NP_964014.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks several exons and includes an alternate 3' terminal exon, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK296075, BC029788, BI765705
      Consensus CDS
      CCDS10335.1
      UniProtKB/Swiss-Prot
      O00337
      UniProtKB/TrEMBL
      B7Z3L6
      Related
      ENSP00000341629.2, ENST00000338602.6

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      84884662..84975649
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522204.4XP_011520506.1  sodium/nucleoside cotransporter 1 isoform X1

      See identical proteins and their annotated locations for XP_011520506.1

      UniProtKB/TrEMBL
      B7Z3L5
      Conserved Domains (1) summary
      TIGR00804
      Location:179590
      nupC; nucleoside transporter
    2. XM_011522203.3XP_011520505.1  sodium/nucleoside cotransporter 1 isoform X1

      See identical proteins and their annotated locations for XP_011520505.1

      UniProtKB/TrEMBL
      B7Z3L5
      Conserved Domains (1) summary
      TIGR00804
      Location:179590
      nupC; nucleoside transporter
    3. XM_011522215.3XP_011520517.1  sodium/nucleoside cotransporter 1 isoform X8

      Conserved Domains (4) summary
      TIGR00804
      Location:179424
      nupC; nucleoside transporter
      pfam01773
      Location:184253
      Nucleos_tra2_N; Na+ dependent nucleoside transporter N-terminus
      pfam07662
      Location:347424
      Nucleos_tra2_C; Na+ dependent nucleoside transporter C-terminus
      pfam07670
      Location:265361
      Gate; Nucleoside recognition
    4. XM_011522209.3XP_011520511.1  sodium/nucleoside cotransporter 1 isoform X3

      UniProtKB/TrEMBL
      B7Z3L5
      Conserved Domains (1) summary
      TIGR00804
      Location:179564
      nupC; nucleoside transporter
    5. XM_011522205.4XP_011520507.1  sodium/nucleoside cotransporter 1 isoform X1

      See identical proteins and their annotated locations for XP_011520507.1

      UniProtKB/TrEMBL
      B7Z3L5
      Conserved Domains (1) summary
      TIGR00804
      Location:179590
      nupC; nucleoside transporter
    6. XM_011522206.4XP_011520508.1  sodium/nucleoside cotransporter 1 isoform X1

      See identical proteins and their annotated locations for XP_011520508.1

      UniProtKB/TrEMBL
      B7Z3L5
      Conserved Domains (1) summary
      TIGR00804
      Location:179590
      nupC; nucleoside transporter
    7. XM_011522208.4XP_011520510.1  sodium/nucleoside cotransporter 1 isoform X2

      UniProtKB/TrEMBL
      B7Z3L5
      Conserved Domains (4) summary
      TIGR00804
      Location:170581
      nupC; nucleoside transporter
      pfam01773
      Location:175244
      Nucleos_tra2_N; Na+ dependent nucleoside transporter N-terminus
      pfam07662
      Location:358581
      Nucleos_tra2_C; Na+ dependent nucleoside transporter C-terminus
      pfam07670
      Location:256352
      Gate; Nucleoside recognition
    8. XM_017022723.2XP_016878212.1  sodium/nucleoside cotransporter 1 isoform X5

      UniProtKB/TrEMBL
      B7Z3L5
    9. XM_011522212.2XP_011520514.1  sodium/nucleoside cotransporter 1 isoform X6

      UniProtKB/TrEMBL
      B7Z3L5
      Conserved Domains (4) summary
      TIGR00804
      Location:179512
      nupC; nucleoside transporter
      pfam01773
      Location:184253
      Nucleos_tra2_N; Na+ dependent nucleoside transporter N-terminus
      pfam07662
      Location:367509
      Nucleos_tra2_C; Na+ dependent nucleoside transporter C-terminus
      pfam07670
      Location:265361
      Gate; Nucleoside recognition
    10. XM_011522210.3XP_011520512.1  sodium/nucleoside cotransporter 1 isoform X4

      UniProtKB/TrEMBL
      B7Z3L5
      Conserved Domains (4) summary
      TIGR00804
      Location:179590
      nupC; nucleoside transporter
      pfam01773
      Location:184253
      Nucleos_tra2_N; Na+ dependent nucleoside transporter N-terminus
      pfam07662
      Location:367590
      Nucleos_tra2_C; Na+ dependent nucleoside transporter C-terminus
      pfam07670
      Location:265361
      Gate; Nucleoside recognition
    11. XM_011522217.2XP_011520519.1  sodium/nucleoside cotransporter 1 isoform X9

      See identical proteins and their annotated locations for XP_011520519.1

      UniProtKB/TrEMBL
      B7Z3L6
      Conserved Domains (4) summary
      TIGR00804
      Location:179424
      nupC; nucleoside transporter
      pfam01773
      Location:184253
      Nucleos_tra2_N; Na+ dependent nucleoside transporter N-terminus
      pfam07662
      Location:347424
      Nucleos_tra2_C; Na+ dependent nucleoside transporter C-terminus
      pfam07670
      Location:265361
      Gate; Nucleoside recognition
    12. XM_011522214.3XP_011520516.1  sodium/nucleoside cotransporter 1 isoform X7

      UniProtKB/TrEMBL
      B7Z3L5
      Conserved Domains (4) summary
      TIGR00804
      Location:179512
      nupC; nucleoside transporter
      pfam01773
      Location:184253
      Nucleos_tra2_N; Na+ dependent nucleoside transporter N-terminus
      pfam07662
      Location:367509
      Nucleos_tra2_C; Na+ dependent nucleoside transporter C-terminus
      pfam07670
      Location:265361
      Gate; Nucleoside recognition
    13. XM_047433322.1XP_047289278.1  sodium/nucleoside cotransporter 1 isoform X11

    14. XM_011522218.3XP_011520520.1  sodium/nucleoside cotransporter 1 isoform X12

      Conserved Domains (2) summary
      pfam01773
      Location:184253
      Nucleos_tra2_N; Na+ dependent nucleoside transporter N-terminus
      pfam07670
      Location:265361
      Gate; Nucleoside recognition
    15. XM_047433320.1XP_047289276.1  sodium/nucleoside cotransporter 1 isoform X1

    16. XM_011522216.2XP_011520518.1  sodium/nucleoside cotransporter 1 isoform X10

      See identical proteins and their annotated locations for XP_011520518.1

      UniProtKB/TrEMBL
      B7Z3L5
      Conserved Domains (4) summary
      TIGR00804
      Location:101512
      nupC; nucleoside transporter
      pfam01773
      Location:106175
      Nucleos_tra2_N; Na+ dependent nucleoside transporter N-terminus
      pfam07662
      Location:289512
      Nucleos_tra2_C; Na+ dependent nucleoside transporter C-terminus
      pfam07670
      Location:187283
      Gate; Nucleoside recognition

    RNA

    1. XR_931945.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      82637040..82727893
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379175.1XP_054235150.1  sodium/nucleoside cotransporter 1 isoform X1

    2. XM_054379174.1XP_054235149.1  sodium/nucleoside cotransporter 1 isoform X1

    3. XM_054379185.1XP_054235160.1  sodium/nucleoside cotransporter 1 isoform X8

    4. XM_054379180.1XP_054235155.1  sodium/nucleoside cotransporter 1 isoform X3

    5. XM_054379176.1XP_054235151.1  sodium/nucleoside cotransporter 1 isoform X1

    6. XM_054379177.1XP_054235152.1  sodium/nucleoside cotransporter 1 isoform X1

    7. XM_054379179.1XP_054235154.1  sodium/nucleoside cotransporter 1 isoform X2

    8. XM_054379182.1XP_054235157.1  sodium/nucleoside cotransporter 1 isoform X5

    9. XM_054379183.1XP_054235158.1  sodium/nucleoside cotransporter 1 isoform X6

    10. XM_054379181.1XP_054235156.1  sodium/nucleoside cotransporter 1 isoform X4

    11. XM_054379186.1XP_054235161.1  sodium/nucleoside cotransporter 1 isoform X9

      UniProtKB/TrEMBL
      B7Z3L6
    12. XM_054379184.1XP_054235159.1  sodium/nucleoside cotransporter 1 isoform X7

    13. XM_054379188.1XP_054235163.1  sodium/nucleoside cotransporter 1 isoform X11

    14. XM_054379189.1XP_054235164.1  sodium/nucleoside cotransporter 1 isoform X12

    15. XM_054379178.1XP_054235153.1  sodium/nucleoside cotransporter 1 isoform X1

    16. XM_054379187.1XP_054235162.1  sodium/nucleoside cotransporter 1 isoform X10

    RNA

    1. XR_008489030.1 RNA Sequence