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

Gene ID: 55974, updated on 10-Oct-2020

Summary

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
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
Expression
Ubiquitous expression in colon (RPKM 17.3), stomach (RPKM 15.0) and 25 other tissues See more
Orthologs

Genomic context

See SLC50A1 in Genome Data Viewer
Location:
1q22
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (155135375..155138853)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (155107817..155111334)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ephrin A3 Neighboring gene ephrin A1 Neighboring gene dolichyl-phosphate mannosyltransferase subunit 3, regulatory Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 18

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

Phenotypes

Associated conditions

Description Tests
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
GeneReviews: Not available
Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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)

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_001122837.2NP_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:72158
    MtN3_slv; Sugar efflux transporter for intercellular exchange
  2. NM_001122839.2NP_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:995
    MtN3_slv; Sugar efflux transporter for intercellular exchange
  3. NM_001287586.2NP_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/Swiss-Prot
    Q9BRV3
    UniProtKB/TrEMBL
    A0A087WXX5
    Related
    ENSP00000481368.1, ENST00000622581.4
    Conserved Domains (2) summary
    pfam03083
    Location:81167
    MtN3_slv; Sugar efflux transporter for intercellular exchange
    cl21610
    Location:749
    PQ-loop; PQ loop repeat
  4. NM_001287587.2NP_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:120206
    MtN3_slv; Sugar efflux transporter for intercellular exchange
    cl21610
    Location:4588
    PQ-loop; PQ loop repeat
  5. NM_001287588.2NP_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:72133
    MtN3_slv; Sugar efflux transporter for intercellular exchange
  6. NM_001287589.2NP_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:40104
    MtN3_slv; Sugar efflux transporter for intercellular exchange
  7. NM_001287590.2NP_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/Swiss-Prot
    Q9BRV3
    UniProtKB/TrEMBL
    Q5SR67
    Related
    ENSP00000420189.1, ENST00000484157.5
    Conserved Domains (1) summary
    pfam03083
    Location:62148
    MtN3_slv; Sugar efflux transporter for intercellular exchange
  8. NM_001287591.2NP_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:89175
    MtN3_slv; Sugar efflux transporter for intercellular exchange
    cl21610
    Location:163
    PQ-loop; PQ loop repeat
  9. NM_001287592.2NP_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:3195
    MtN3_slv; Sugar efflux transporter for intercellular exchange
  10. NM_018845.4NP_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
    Q9BRV3
    Related
    ENSP00000357389.4, ENST00000368404.9
    Conserved Domains (1) summary
    pfam03083
    Location:127213
    MtN3_slv; Sugar efflux transporter for intercellular exchange

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005245342.3XP_005245399.1  sugar transporter SWEET1 isoform X2

    See identical proteins and their annotated locations for XP_005245399.1

    Conserved Domains (2) summary
    pfam03083
    Location:95181
    MtN3_slv; Sugar efflux transporter for intercellular exchange
    cl21610
    Location:163
    PQ-loop; PQ loop repeat
  2. XM_006711453.2XP_006711516.1  sugar transporter SWEET1 isoform X1

    See identical proteins and their annotated locations for XP_006711516.1

    Conserved Domains (1) summary
    pfam03083
    Location:995
    MtN3_slv; Sugar efflux transporter for intercellular exchange
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