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    GAL3ST1 galactose-3-O-sulfotransferase 1 [ Homo sapiens (human) ]

    Gene ID: 9514, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GAL3ST1provided by HGNC
    Official Full Name
    galactose-3-O-sulfotransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:24240
    See related
    Ensembl:ENSG00000128242 MIM:602300; AllianceGenome:HGNC:24240
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CST
    Summary
    Sulfonation, an important step in the metabolism of many drugs, xenobiotics, hormones, and neurotransmitters, is catalyzed by sulfotransferases. This gene encodes galactosylceramide sulfotransferase, which catalyzes the sulfation of membrane glycolipids including the final step in the synthesis of sulfatide, a major lipid component of the myelin sheath. This gene exhibits elevated expression in ovarian epithelial carcinoma and the encoded enzyme exhibits elevated activity in renal cell carcinoma. Mutations in this gene may be associated with reduced insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
    Expression
    Biased expression in kidney (RPKM 2.0), duodenum (RPKM 1.8) and 9 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GAL3ST1 in Genome Data Viewer
    Location:
    22q12.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (30554635..30574665, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (31018042..31038069, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (30950622..30970652, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene SEC14 like lipid binding 4 Neighboring gene Sharpr-MPRA regulatory region 10283 Neighboring gene SEC14 like lipid binding 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30938591-30939583 Neighboring gene signal regulatory protein alpha pseudogene 1 Neighboring gene MPRA-validated peak4480 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30967053-30967554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30969210-30969891 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30969892-30970572 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:30982632-30983831 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:30987725-30988440 Neighboring gene pescadillo ribosomal biogenesis factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18840 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31002947-31003526 Neighboring gene Sharpr-MPRA regulatory region 4664 Neighboring gene transcobalamin 2

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The prognostic value of galactosylceramide-sulfotransferase (Gal3ST1) in human renal cell carcinoma.
      Title: The prognostic value of galactosylceramide-sulfotransferase (Gal3ST1) in human renal cell carcinoma.
    2. These results suggest that GAL3ST1 is a HIF-responsive gene that may contribute to clear cell renal cell carcinoma (ccRCC) development via promoting cancer cell evasion of immune surveillance.
      Title: A Hypoxia-Inducible HIF1-GAL3ST1-Sulfatide Axis Enhances ccRCC Immune Evasion via Increased Tumor Cell-Platelet Binding.
    3. results suggest that heterozygosity at SNP rs2267161 in the gene encoding the CST enzyme confers increased risk of type 2 diabetes; females with the CC allele showed lower insulin resistance
      Title: A variation in the cerebroside sulfotransferase gene is linked to exercise-modified insulin resistance and to type 2 diabetes.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 galactosylceramide sulfotransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables galactosylceramide sulfotransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables galactosylceramide sulfotransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables galactosylceramide sulfotransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables sulfotransferase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in galactosylceramide biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in galactosylceramide metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in glycerolipid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in glycosphingolipid biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in myelination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein N-linked glycosylation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sphingolipid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    galactosylceramide sulfotransferase
    Names
    3'-phosphoadenosine-5'-phosphosulfate:GalCer sulfotransferase
    cerebroside (3'-phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase
    NP_001305032.1
    NP_001305033.1
    NP_001305034.1
    NP_001305035.1
    NP_001305036.1
    NP_001305037.1
    NP_001305038.1
    NP_001305039.1
    NP_001305040.1
    NP_001305041.1
    NP_001305042.1
    NP_001305043.1
    NP_001305044.1
    NP_001305045.1
    NP_004852.1
    XP_011528820.2
    XP_011528824.1
    XP_011528830.1
    XP_016884585.1
    XP_016884586.1
    XP_054182122.1
    XP_054182123.1
    XP_054182124.1
    XP_054182125.1
    XP_054182126.1

    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_001318103.2 → NP_001305032.1  galactosylceramide sulfotransferase isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-12 encode the same isoform (1).
      Source sequence(s)
      AC005006, AW137588, BM923857, D88667, DA372454
      Consensus CDS
      CCDS13879.1
      UniProtKB/Swiss-Prot
      Q96C63, Q99999
      UniProtKB/TrEMBL
      B2R7S4
      Related
      ENSP00000384122.1, ENST00000402369.5
      Conserved Domains (1) summary
      pfam06990
      Location:1 → 408
      Gal-3-0_sulfotr; Galactose-3-O-sulfotransferase

    2. NM_001318104.2 → NP_001305033.1  galactosylceramide sulfotransferase isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-12 encode the same isoform (1).
      Source sequence(s)
      AC005006, AW137588, BM923857, D88667, DA271385
      Consensus CDS
      CCDS13879.1
      UniProtKB/Swiss-Prot
      Q96C63, Q99999
      UniProtKB/TrEMBL
      B2R7S4
      Related
      ENSP00000385207.1, ENST00000406361.6
      Conserved Domains (1) summary
      pfam06990
      Location:1 → 408
      Gal-3-0_sulfotr; Galactose-3-O-sulfotransferase

    3. NM_001318105.2 → NP_001305034.1  galactosylceramide sulfotransferase isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-12 encode the same isoform (1).
      Source sequence(s)
      AK313097, AW137588, D88667, DA384904
      Consensus CDS
      CCDS13879.1
      UniProtKB/Swiss-Prot
      Q96C63, Q99999
      UniProtKB/TrEMBL
      B2R7S4
      Conserved Domains (1) summary
      pfam06990
      Location:1 → 408
      Gal-3-0_sulfotr; Galactose-3-O-sulfotransferase

    4. NM_001318106.2 → NP_001305035.1  galactosylceramide sulfotransferase isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the shortest isoform (1). Variants 1-12 encode the same isoform (1).
      Source sequence(s)
      AW137588, D88667, DA384904
      Consensus CDS
      CCDS13879.1
      UniProtKB/Swiss-Prot
      Q96C63, Q99999
      UniProtKB/TrEMBL
      B2R7S4
      Conserved Domains (1) summary
      pfam06990
      Location:1 → 408
      Gal-3-0_sulfotr; Galactose-3-O-sulfotransferase

    5. NM_001318107.2 → NP_001305036.1  galactosylceramide sulfotransferase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13) differs in the 5' UTR and uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The encoded isoform (2) is longer than isoform 1. Both variants 13 and 14 encode the same isoform (2).
      Source sequence(s)
      AC005006, AW137588, D88667, DA382951
      UniProtKB/TrEMBL
      B2R7S4
      Conserved Domains (1) summary
      pfam06990
      Location:1 → 409
      Gal-3-0_sulfotr; Galactose-3-O-sulfotransferase

    6. NM_001318108.2 → NP_001305037.1  galactosylceramide sulfotransferase isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1-12 encode the same isoform (1).
      Source sequence(s)
      AW137588, D88667, DA376354, DA384904
      Consensus CDS
      CCDS13879.1
      UniProtKB/Swiss-Prot
      Q96C63, Q99999
      UniProtKB/TrEMBL
      B2R7S4
      Conserved Domains (1) summary
      pfam06990
      Location:1 → 408
      Gal-3-0_sulfotr; Galactose-3-O-sulfotransferase

    7. NM_001318109.1 → NP_001305038.1  galactosylceramide sulfotransferase isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15) differs in the 5' UTR and uses an alternate translation start site compared to variant 1. The encoded isoform (3) has a longer and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AW137588, BP220526, D88667, DA384904
      UniProtKB/TrEMBL
      B2R7S4
      Conserved Domains (1) summary
      pfam06990
      Location:26 → 433
      Gal-3-0_sulfotr; Galactose-3-O-sulfotransferase

    8. NM_001318110.2 → NP_001305039.1  galactosylceramide sulfotransferase isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1-12 encode the same isoform (1).
      Source sequence(s)
      AW137588, D88667, DA379889, DA381062
      Consensus CDS
      CCDS13879.1
      UniProtKB/Swiss-Prot
      Q96C63, Q99999
      UniProtKB/TrEMBL
      B2R7S4
      Conserved Domains (1) summary
      pfam06990
      Location:1 → 408
      Gal-3-0_sulfotr; Galactose-3-O-sulfotransferase

    9. NM_001318111.2 → NP_001305040.1  galactosylceramide sulfotransferase isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. Variants 1-12 encode the same isoform (1).
      Source sequence(s)
      AW137588, BU584341, D88667, DA371478, DA381062
      Consensus CDS
      CCDS13879.1
      UniProtKB/Swiss-Prot
      Q96C63, Q99999
      UniProtKB/TrEMBL
      B2R7S4
      Related
      ENSP00000385735.1, ENST00000402321.5
      Conserved Domains (1) summary
      pfam06990
      Location:1 → 408
      Gal-3-0_sulfotr; Galactose-3-O-sulfotransferase

    10. NM_001318112.2 → NP_001305041.1  galactosylceramide sulfotransferase isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR compared to variant 1. Variants 1-12 encode the same isoform (1).
      Source sequence(s)
      AW137588, BC019077, BP276494, D88667
      Consensus CDS
      CCDS13879.1
      UniProtKB/Swiss-Prot
      Q96C63, Q99999
      UniProtKB/TrEMBL
      B2R7S4
      Related
      ENSP00000385825.1, ENST00000406955.5
      Conserved Domains (1) summary
      pfam06990
      Location:1 → 408
      Gal-3-0_sulfotr; Galactose-3-O-sulfotransferase

    11. NM_001318113.2 → NP_001305042.1  galactosylceramide sulfotransferase isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) differs in the 5' UTR compared to variant 1. Variants 1-12 encode the same isoform (1).
      Source sequence(s)
      AW137588, BC014649, BP276494, D88667
      Consensus CDS
      CCDS13879.1
      UniProtKB/Swiss-Prot
      Q96C63, Q99999
      UniProtKB/TrEMBL
      B2R7S4
      Conserved Domains (1) summary
      pfam06990
      Location:1 → 408
      Gal-3-0_sulfotr; Galactose-3-O-sulfotransferase

    12. NM_001318114.2 → NP_001305043.1  galactosylceramide sulfotransferase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14) differs in the 5' UTR and uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The encoded isoform (2) is longer than isoform 1. Both variants 13 and 14 encode the same isoform (2).
      Source sequence(s)
      AW137588, BP276494, D88667, DA381099
      UniProtKB/TrEMBL
      B2R7S4
      Conserved Domains (1) summary
      pfam06990
      Location:1 → 409
      Gal-3-0_sulfotr; Galactose-3-O-sulfotransferase

    13. NM_001318115.2 → NP_001305044.1  galactosylceramide sulfotransferase isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) differs in the 5' UTR compared to variant 1. Variants 1-12 encode the same isoform (1).
      Source sequence(s)
      AC005006, AW137588, BG419785, BP276494, D88667
      Consensus CDS
      CCDS13879.1
      UniProtKB/Swiss-Prot
      Q96C63, Q99999
      UniProtKB/TrEMBL
      B2R7S4
      Conserved Domains (1) summary
      pfam06990
      Location:1 → 408
      Gal-3-0_sulfotr; Galactose-3-O-sulfotransferase

    14. NM_001318116.2 → NP_001305045.1  galactosylceramide sulfotransferase isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) differs in the 5' UTR compared to variant 1. Variants 1-12 encode the same isoform (1).
      Source sequence(s)
      AW137588, BP276494, D88667, DA370553
      Consensus CDS
      CCDS13879.1
      UniProtKB/Swiss-Prot
      Q96C63, Q99999
      UniProtKB/TrEMBL
      B2R7S4
      Conserved Domains (1) summary
      pfam06990
      Location:1 → 408
      Gal-3-0_sulfotr; Galactose-3-O-sulfotransferase

    15. NM_004861.3 → NP_004852.1  galactosylceramide sulfotransferase isoform 1

      See identical proteins and their annotated locations for NP_004852.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 1. Variants 1-12 encode the same isoform (1).
      Source sequence(s)
      AW137588, D88667, DA381062
      Consensus CDS
      CCDS13879.1
      UniProtKB/Swiss-Prot
      Q96C63, Q99999
      UniProtKB/TrEMBL
      B2R7S4
      Related
      ENSP00000384388.1, ENST00000401975.5
      Conserved Domains (1) summary
      pfam06990
      Location:1 → 408
      Gal-3-0_sulfotr; Galactose-3-O-sulfotransferase

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      30554635..30574665 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530518.3 → XP_011528820.2  galactosylceramide sulfotransferase isoform X1

    2. XM_011530522.3 → XP_011528824.1  galactosylceramide sulfotransferase isoform X2

      See identical proteins and their annotated locations for XP_011528824.1

      UniProtKB/TrEMBL
      B2R7S4
      Conserved Domains (1) summary
      pfam06990
      Location:1 → 409
      Gal-3-0_sulfotr; Galactose-3-O-sulfotransferase

    3. XM_017029097.2 → XP_016884586.1  galactosylceramide sulfotransferase isoform X2

      UniProtKB/TrEMBL
      B2R7S4
      Conserved Domains (1) summary
      pfam06990
      Location:1 → 409
      Gal-3-0_sulfotr; Galactose-3-O-sulfotransferase

    4. XM_017029096.2 → XP_016884585.1  galactosylceramide sulfotransferase isoform X2

      UniProtKB/TrEMBL
      B2R7S4
      Conserved Domains (1) summary
      pfam06990
      Location:1 → 409
      Gal-3-0_sulfotr; Galactose-3-O-sulfotransferase

    5. XM_011530528.2 → XP_011528830.1  galactosylceramide sulfotransferase isoform X2

      See identical proteins and their annotated locations for XP_011528830.1

      UniProtKB/TrEMBL
      B2R7S4
      Conserved Domains (1) summary
      pfam06990
      Location:1 → 409
      Gal-3-0_sulfotr; Galactose-3-O-sulfotransferase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      31018042..31038069 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326147.1 → XP_054182122.1  galactosylceramide sulfotransferase isoform X1

    2. XM_054326148.1 → XP_054182123.1  galactosylceramide sulfotransferase isoform X2

    3. XM_054326150.1 → XP_054182125.1  galactosylceramide sulfotransferase isoform X2

    4. XM_054326149.1 → XP_054182124.1  galactosylceramide sulfotransferase isoform X2

    5. XM_054326151.1 → XP_054182126.1  galactosylceramide sulfotransferase isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99999.1 GenPept UniProtKB/Swiss-Prot:Q99999

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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