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    ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 [ Homo sapiens (human) ]

    Gene ID: 30815, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ST6GALNAC6provided by HGNC
    Official Full Name
    ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6provided by HGNC
    Primary source
    HGNC:HGNC:23364
    See related
    Ensembl:ENSG00000160408 MIM:610135; AllianceGenome:HGNC:23364
    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
    SIAT7F; SIAT7-F; ST6GALNACVI
    Summary
    ST6GALNAC6 belongs to a family of sialyltransferases that modify proteins and ceramides on the cell surface to alter cell-cell or cell-extracellular matrix interactions (Tsuchida et al., 2003 [PubMed 12668675]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in colon (RPKM 34.9), fat (RPKM 30.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ST6GALNAC6 in Genome Data Viewer
    Location:
    9q34.11
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (127885321..127906616, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (140093108..140114388, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (130647600..130668895, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene endoglin Neighboring gene ST6GALNAC4-ST6GALNAC6-AK1 readthrough Neighboring gene uncharacterized LOC124902279 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130616269-130617185 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130618546-130619046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130619047-130619547 Neighboring gene CRISPRi-validated cis-regulatory element chr9.2869 Neighboring gene Sharpr-MPRA regulatory region 4407 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29056 Neighboring gene Sharpr-MPRA regulatory region 6524 Neighboring gene microRNA 4672 Neighboring gene adenylate kinase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130645163-130645663 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130646401-130647398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130658469-130659290 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20314 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130660112-130660932 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130660933-130661753 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20315 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20316 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29057 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130667147-130667673 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130667812-130668411 Neighboring gene ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29058 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29061 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29060 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20317 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:130685680-130686879 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130688781-130689504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130689505-130690228 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130690229-130690952 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130691676-130692399 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20318 Neighboring gene phosphatidylinositol-4-phosphate 5-kinase like 1

    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. Identification and expression of a sialyltransferase responsible for the synthesis of disialylgalactosylgloboside in normal and malignant kidney cells: downregulation of ST6GalNAc VI in renal cancers. Senda M, et al. Biochem J, 2007 Mar 15. PMID 17123352, Free PMC Article
    2. Molecular cloning and expression of mouse GD1alpha/GT1aalpha/GQ1balpha synthase (ST6GalNAc VI) gene. Okajima T, et al. J Biol Chem, 2000 Mar 10. PMID 10702226
    3. Synthesis of disialyl Lewis a (Le(a)) structure in colon cancer cell lines by a sialyltransferase, ST6GalNAc VI, responsible for the synthesis of alpha-series gangliosides. Tsuchida A, et al. J Biol Chem, 2003 Jun 20. PMID 12668675
    4. The animal sialyltransferases and sialyltransferase-related genes: a phylogenetic approach. Harduin-Lepers A, et al. Glycobiology, 2005 Aug. PMID 15843597
    5. Protein array based interactome analysis of amyloid-β indicates an inhibition of protein translation. Virok DP, et al. J Proteome Res, 2011 Apr 1. PMID 21244100

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ST6GalNAc-VI and disialylgalactosylgloboside were found in proximal tubule epithelial cells in normal kidney tissues
      Title: Identification and expression of a sialyltransferase responsible for the synthesis of disialylgalactosylgloboside in normal and malignant kidney cells: downregulation of ST6GalNAc VI in renal cancers.
    2. novel substrate specificity of ST6GalNAc VI, which is responsible for the synthesis of disialyl Lea but not for alpha-series gangliosides in human colon tissues
      Title: Synthesis of disialyl Lewis a (Le(a)) structure in colon cancer cell lines by a sialyltransferase, ST6GalNAc VI, responsible for the synthesis of alpha-series gangliosides.
    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

    Readthrough ST6GALNAC4-ST6GALNAC6-AK1

    Readthrough gene: ST6GALNAC4-ST6GALNAC6-AK1, Included gene: AK1, Included gene: ST6GALNAC4

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sialyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables sialyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell-cell recognition IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in ganglioside biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ganglioside biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in glycoprotein metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in glycosphingolipid biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in glycosphingolipid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in glycosylceramide metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in oligosaccharide biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in oligosaccharide biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in oligosaccharide metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6
    Names
    CMP-NeuAC:(beta)-N-acetylgalactosaminide (alpha)2,6-sialyltransferase member VI
    ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6
    ST6 -N-acetylgalactosaminide alpha-26-sialyltransferase 6
    ST6 GalNAc alpha-2,6-sialyltransferase 6
    epididymis secretory sperm binding protein
    galNAc alpha-2,6-sialyltransferase VI
    sialyltransferase 7F
    sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F
    NP_001273928.1
    NP_001273929.1
    NP_001273930.1
    NP_001273931.1
    NP_001273932.1
    NP_001375418.1
    NP_001387759.1
    NP_001387760.1
    NP_001387761.1
    NP_001387762.1
    NP_001387763.1
    NP_001387764.1
    NP_038471.2

    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_001286999.2 → NP_001273928.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 isoform b

      See identical proteins and their annotated locations for NP_001273928.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is longer than isoform a.
      Source sequence(s)
      AL157935
      Consensus CDS
      CCDS69669.1
      UniProtKB/Swiss-Prot
      Q969X2
      Related
      ENSP00000362235.1, ENST00000373142.5
      Conserved Domains (1) summary
      pfam00777
      Location:102 → 266
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    2. NM_001287000.2 → NP_001273929.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 isoform c precursor

      See identical proteins and their annotated locations for NP_001273929.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an exon in the 5' region, resulting in translation initiation from a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a. Variants 3, 4, 5 and 10 all encode isoform c.
      Source sequence(s)
      AL157935
      Consensus CDS
      CCDS69668.1
      UniProtKB/TrEMBL
      A0A2R8YFX0
      Related
      ENSP00000362237.3, ENST00000373144.7
      Conserved Domains (1) summary
      pfam00777
      Location:68 → 253
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    3. NM_001287001.2 → NP_001273930.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 isoform c precursor

      See identical proteins and their annotated locations for NP_001273930.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation from a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a. Variants 3, 4, 5 and 10 all encode isoform c.
      Source sequence(s)
      AL157935
      Consensus CDS
      CCDS69668.1
      UniProtKB/TrEMBL
      A0A2R8YFX0
      Related
      ENSP00000362234.1, ENST00000373141.5
      Conserved Domains (1) summary
      pfam00777
      Location:68 → 253
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    4. NM_001287002.2 → NP_001273931.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 isoform c precursor

      See identical proteins and their annotated locations for NP_001273931.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation from a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a. Variants 3, 4, 5 and 10 all encode isoform c.
      Source sequence(s)
      AL157935
      Consensus CDS
      CCDS69668.1
      UniProtKB/TrEMBL
      A0A2R8YFX0
      Related
      ENSP00000477575.1, ENST00000622357.5
      Conserved Domains (1) summary
      pfam00777
      Location:68 → 253
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    5. NM_001287003.2 → NP_001273932.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 isoform d precursor

      See identical proteins and their annotated locations for NP_001273932.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation from a downstream in-frame start codon, and lacks an exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (d) has a distinct C-terminus and is shorter than isoform a. Variants 6 and 11 encode isoform d.
      Source sequence(s)
      AL157935
      Consensus CDS
      CCDS75908.1
      UniProtKB/TrEMBL
      F6SGE3
      Related
      ENSP00000438109.2, ENST00000542456.5

    6. NM_001388489.1 → NP_001375418.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 isoform c precursor

      Status: VALIDATED

      Source sequence(s)
      AL157935
      Consensus CDS
      CCDS69668.1
      UniProtKB/TrEMBL
      A0A2R8YFX0
      Conserved Domains (1) summary
      pfam00777
      Location:68 → 253
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    7. NM_001400830.1 → NP_001387759.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 isoform e

      Status: VALIDATED

      Source sequence(s)
      AL157935

    8. NM_001400831.1 → NP_001387760.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 isoform c precursor

      Status: VALIDATED

      Source sequence(s)
      AL157935
      Consensus CDS
      CCDS69668.1

    9. NM_001400832.1 → NP_001387761.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 isoform d precursor

      Status: VALIDATED

      Source sequence(s)
      AL157935
      Consensus CDS
      CCDS75908.1
      UniProtKB/TrEMBL
      F6SGE3

    10. NM_001400833.1 → NP_001387762.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 isoform f precursor

      Status: VALIDATED

      Source sequence(s)
      AL157935

    11. NM_001400834.1 → NP_001387763.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 isoform f precursor

      Status: VALIDATED

      Source sequence(s)
      AL157935

    12. NM_001400835.1 → NP_001387764.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 isoform f precursor

      Status: VALIDATED

      Source sequence(s)
      AL157935

    13. NM_013443.5 → NP_038471.2  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 isoform a

      See identical proteins and their annotated locations for NP_038471.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform a.
      Source sequence(s)
      AL157935
      Consensus CDS
      CCDS6882.1
      UniProtKB/Swiss-Prot
      B3KQ01, Q5T9C4, Q5T9C5, Q969X2, Q9H8A2, Q9ULB8
      UniProtKB/TrEMBL
      A0A0S2Z5G9, A0A2R8YFX0
      Related
      ENSP00000362239.1, ENST00000373146.6
      Conserved Domains (1) summary
      pfam00777
      Location:96 → 287
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    RNA

    1. NR_104629.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) has alternate 5' exon structure and uses two alternate splice sites in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL157935

    2. NR_174612.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL157935

    3. NR_174613.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL157935

    4. NR_174614.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL157935

    5. NR_174615.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL157935
      Related
      ENST00000291839.10

    6. NR_174616.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL157935

    7. NR_174617.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL157935

    8. NR_174618.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL157935

    9. NR_174619.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL157935

    10. NR_174620.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL157935

    11. NR_174621.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL157935

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      127885321..127906616 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      140093108..140114388 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q969X2.1 GenPept UniProtKB/Swiss-Prot:Q969X2

    Gene LinkOut

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

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