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    SLC50A1 solute carrier family 50 member 1 [ Homo sapiens (human) ]

    Gene ID: 55974, updated on 28-Oct-2024

    Summary

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    Official Symbol
    SLC50A1provided by HGNC
    Official Full Name
    solute carrier family 50 member 1provided by HGNC
    Primary source
    HGNC:HGNC:30657
    See related
    Ensembl:ENSG00000169241 MIM:613683; AllianceGenome:HGNC:30657
    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
    SCP; slv; SWEET1; RAG1AP1; HsSWEET1
    Summary
    Enables glucoside transmembrane transporter activity. Predicted to be involved in carbohydrate transport. Located in Golgi apparatus and plasma membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in colon (RPKM 17.3), stomach (RPKM 15.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC50A1 in Genome Data Viewer
    Location:
    1q22
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (155135375..155138853)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (154274731..154278210)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (155107851..155111329)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene EFNA4-EFNA3 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1387 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1388 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1389 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1804 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1805 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1390 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1391 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:155058284-155058452 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1392 Neighboring gene ephrin A3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:155065994-155066608 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:155075818-155075984 Neighboring gene Sharpr-MPRA regulatory region 6409 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:155098207-155099046 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1393 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1806 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1394 Neighboring gene ephrin A1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1807 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1808 Neighboring gene dolichyl-phosphate mannosyltransferase subunit 3, regulatory Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 18

    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 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. RGA protein associates with a TRPV ion channel during biosynthesis and trafficking. Barnhill JC, et al. J Cell Biochem, 2004 Mar 1. PMID 14991772
    2. Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. Pankratz N, et al. Ann Neurol, 2012 Mar. PMID 22451204, Free PMC Article
    3. Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. Eeles RA, et al. Nat Genet, 2013 Apr. PMID 23535732, Free PMC Article
    4. Molecular cloning and characterization of a novel stromal cell-derived cDNA encoding a protein that facilitates gene activation of recombination activating gene (RAG)-1 in human lymphoid progenitors. Tagoh H, et al. Biochem Biophys Res Commun, 1996 Apr 25. PMID 8630032
    5. Sugar transporters for intercellular exchange and nutrition of pathogens. Chen LQ, et al. Nature, 2010 Nov 25. PMID 21107422, Free PMC Article

    See all (14) 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

    EBI GWAS Catalog

    Description
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog
    Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.
    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glucoside transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sugar transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables sugar transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in carbohydrate transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glucoside transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in hexose transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endomembrane system ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in 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

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    Preferred Names
    sugar transporter SWEET1
    Names
    RAG1-activating protein 1
    RP11-540D14.5
    RZPDo834D038D
    probable sugar transporter RAG1AP1
    recombination activating gene 1 activating protein 1
    solute carrier family 50 (sugar efflux transporter), member 1
    solute carrier family 50 (sugar transporter), member 1
    stromal cell 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.

    mRNA and Protein(s)

    1. NM_001122837.2 → NP_001116309.1  sugar transporter SWEET1 isoform b

      See identical proteins and their annotated locations for NP_001116309.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AK289551, BC005943
      Consensus CDS
      CCDS44239.1
      UniProtKB/Swiss-Prot
      Q9BRV3
      Related
      ENSP00000357386.5, ENST00000368401.6
      Conserved Domains (1) summary
      pfam03083
      Location:72 → 158
      MtN3_slv; Sugar efflux transporter for intercellular exchange

    2. NM_001122839.2 → NP_001116311.1  sugar transporter SWEET1 isoform c

      See identical proteins and their annotated locations for NP_001116311.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AK289551, BC005943
      Consensus CDS
      CCDS44238.1
      UniProtKB/Swiss-Prot
      Q9BRV3
      Related
      ENSP00000306146.8, ENST00000303343.12
      Conserved Domains (1) summary
      pfam03083
      Location:9 → 95
      MtN3_slv; Sugar efflux transporter for intercellular exchange

    3. NM_001287586.2 → NP_001274515.1  sugar transporter SWEET1 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice junction at the 3' end of the first exon and lacks an alternate in-frame 5' coding exon compared to variant 1. The resulting isoform (d) has a shorter and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AF126023, BE958344, BI711397, DA113832
      Consensus CDS
      CCDS72930.1
      UniProtKB/TrEMBL
      A0A087WXX5
      Related
      ENSP00000481368.1, ENST00000622581.4
      Conserved Domains (2) summary
      pfam03083
      Location:81 → 167
      MtN3_slv; Sugar efflux transporter for intercellular exchange
      cl21610
      Location:7 → 49
      PQ-loop; PQ loop repeat

    4. NM_001287587.2 → NP_001274516.1  sugar transporter SWEET1 isoform e

      See identical proteins and their annotated locations for NP_001274516.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate splice junction at the 3' end of the second exon compared to variant 1, that causes a frameshift. The resulting isoform (e) has a shorter and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AF126023, BI711397, BU160680, DA113832
      UniProtKB/Swiss-Prot
      Q9BRV3
      Conserved Domains (2) summary
      pfam03083
      Location:120 → 206
      MtN3_slv; Sugar efflux transporter for intercellular exchange
      cl21610
      Location:45 → 88
      PQ-loop; PQ loop repeat

    5. NM_001287588.2 → NP_001274517.1  sugar transporter SWEET1 isoform f

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) uses an alternate splice junction at the 5' end of the last exon and lacks an alternate coding exon compared to variant 1, that causes frameshifts. The resulting isoform (f) has shorter and distinct N- and C-termini compared to isoform a.
      Source sequence(s)
      AF126023, AL691442, BI711397, BU564973
      UniProtKB/Swiss-Prot
      Q9BRV3
      Conserved Domains (1) summary
      pfam03083
      Location:72 → 133
      MtN3_slv; Sugar efflux transporter for intercellular exchange

    6. NM_001287589.2 → NP_001274518.1  sugar transporter SWEET1 isoform g

      See identical proteins and their annotated locations for NP_001274518.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) lacks two alternate consecutive exons compared to variant 1, that causes a frameshift. The resulting isoform (g) has a shorter and distinct N-terminus compared to isoform a.
      Source sequence(s)
      BI711397, DA113832, X84712
      Conserved Domains (1) summary
      pfam03083
      Location:40 → 104
      MtN3_slv; Sugar efflux transporter for intercellular exchange

    7. NM_001287590.2 → NP_001274519.1  sugar transporter SWEET1 isoform h

      See identical proteins and their annotated locations for NP_001274519.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) has an alternate first exon and lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (h) has a shorter and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AF126023, BI711397, BP248307
      Consensus CDS
      CCDS72929.1
      UniProtKB/TrEMBL
      Q5SR67
      Related
      ENSP00000420189.1, ENST00000484157.5
      Conserved Domains (1) summary
      pfam03083
      Location:62 → 148
      MtN3_slv; Sugar efflux transporter for intercellular exchange

    8. NM_001287591.2 → NP_001274520.1  sugar transporter SWEET1 isoform i

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) uses an alternate first exon and an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (i) is shorter at the N-terminus and lacks an alternate internal segment compared to isoform a.
      Source sequence(s)
      AF126023, BI711397, BM806886
      UniProtKB/Swiss-Prot
      Q9BRV3
      Conserved Domains (2) summary
      pfam03083
      Location:89 → 175
      MtN3_slv; Sugar efflux transporter for intercellular exchange
      cl21610
      Location:1 → 63
      PQ-loop; PQ loop repeat

    9. NM_001287592.2 → NP_001274521.1  sugar transporter SWEET1 isoform j

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10) uses an alternate first exon and lacks two alternate consecutive exons compared to variant 1, that causes a frameshift. The resulting isoform (j) has a shorter and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AF126023, BI711397, BM806886, BX093804
      UniProtKB/Swiss-Prot
      Q9BRV3
      Conserved Domains (1) summary
      pfam03083
      Location:31 → 95
      MtN3_slv; Sugar efflux transporter for intercellular exchange

    10. NM_018845.4 → NP_061333.2  sugar transporter SWEET1 isoform a

      See identical proteins and their annotated locations for NP_061333.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AK289551, BC005943
      Consensus CDS
      CCDS1093.1
      UniProtKB/Swiss-Prot
      Q5SR64, Q6IAK6, Q96DC5, Q9BRV3, Q9UHQ2, Q9UHQ3
      Related
      ENSP00000357389.4, ENST00000368404.9
      Conserved Domains (1) summary
      pfam03083
      Location:127 → 213
      MtN3_slv; Sugar efflux transporter for intercellular exchange

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      155135375..155138853
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425443.1 → XP_047281399.1  sugar transporter SWEET1 isoform X2

    2. XM_047425442.1 → XP_047281398.1  sugar transporter SWEET1 isoform X1

    3. XM_005245342.4 → XP_005245399.1  sugar transporter SWEET1 isoform X4

      See identical proteins and their annotated locations for XP_005245399.1

      Conserved Domains (2) summary
      pfam03083
      Location:95 → 181
      MtN3_slv; Sugar efflux transporter for intercellular exchange
      cl21610
      Location:1 → 63
      PQ-loop; PQ loop repeat

    4. XM_047425464.1 → XP_047281420.1  sugar transporter SWEET1 isoform X6

    5. XM_047425460.1 → XP_047281416.1  sugar transporter SWEET1 isoform X5

    6. XM_006711453.3 → XP_006711516.1  sugar transporter SWEET1 isoform X3

      See identical proteins and their annotated locations for XP_006711516.1

      Conserved Domains (1) summary
      pfam03083
      Location:9 → 95
      MtN3_slv; Sugar efflux transporter for intercellular exchange

    7. XM_047425465.1 → XP_047281421.1  sugar transporter SWEET1 isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      154274731..154278210
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337712.1 → XP_054193687.1  sugar transporter SWEET1 isoform X2

    2. XM_054337711.1 → XP_054193686.1  sugar transporter SWEET1 isoform X1

    3. XM_054337714.1 → XP_054193689.1  sugar transporter SWEET1 isoform X4

    4. XM_054337716.1 → XP_054193691.1  sugar transporter SWEET1 isoform X6

    5. XM_054337715.1 → XP_054193690.1  sugar transporter SWEET1 isoform X5

    6. XM_054337713.1 → XP_054193688.1  sugar transporter SWEET1 isoform X3

    7. XM_054337717.1 → XP_054193692.1  sugar transporter SWEET1 isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BRV3.1 GenPept UniProtKB/Swiss-Prot:Q9BRV3

    Gene LinkOut

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