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

Gene ID: 55974, updated on 11-Apr-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, Apr 2022]
Expression
Ubiquitous expression in colon (RPKM 17.3), stomach (RPKM 15.0) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
1q22
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (155135375..155138853)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (154274731..154278210)
105.20220307 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
  • 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. 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
  4. Sugar transporters for intercellular exchange and nutrition of pathogens. Chen LQ, et al. Nature, 2010 Nov 25. PMID 21107422, Free PMC Article
  5. 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

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_2023_10

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

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