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    SLC35B2 solute carrier family 35 member B2 [ Homo sapiens (human) ]

    Gene ID: 347734, updated on 3-Nov-2024

    Summary

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    Official Symbol
    SLC35B2provided by HGNC
    Official Full Name
    solute carrier family 35 member B2provided by HGNC
    Primary source
    HGNC:HGNC:16872
    See related
    Ensembl:ENSG00000157593 MIM:610788; AllianceGenome:HGNC:16872
    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
    SLL; HLD26; PAPST1; UGTrel4
    Summary
    Sulfotransferases (e.g., SULT4A1; MIM 608359) use an activated form of sulfate, 3-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS), as a common sulfate donor for sulfation of glycoproteins, proteoglycans, and glycolipids in the endoplasmic reticulum and Golgi apparatus. SLC35B2 is located in the microsomal membrane and transports PAPS from the cytosol, where it is synthesized, into the Golgi lumen (Kamiyama et al., 2003 [PubMed 12716889]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in gall bladder (RPKM 17.2), thyroid (RPKM 15.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC35B2 in Genome Data Viewer
    Location:
    6p21.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (44254101..44257890, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (44088249..44092041, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (44221838..44225627, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17257 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44191161-44192019 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24631 Neighboring gene solute carrier family 29 member 1 (Augustine blood group) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:44194558-44195156 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17259 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44213140-44213894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17260 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44214649-44215403 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24632 Neighboring gene heat shock protein 90 alpha family class B member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:44222709-44223424 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:44224854-44225567 Neighboring gene microRNA 4647 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24633 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24634 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24635 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24636 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24637 Neighboring gene NFKB inhibitor epsilon Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:44232415-44232914 Neighboring gene transmembrane protein 151B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:44243146-44243938 Neighboring gene t-complex-associated-testis-expressed 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 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. Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.
      Title: Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.
    2. Differential genetic associations and expression of PAPST1/SLC35B2 in bipolar disorder and schizophrenia.
      Title: Differential genetic associations and expression of PAPST1/SLC35B2 in bipolar disorder and schizophrenia.
    3. SLC35B2 Acts in a Dual Role in the Host Sulfation Required for EV71 Infection.
      Title: SLC35B2 Acts in a Dual Role in the Host Sulfation Required for EV71 Infection.
    4. Sulfation of a FLAG tag mediated by SLC35B2 and TPST2 affects antibody recognition.
      Title: Sulfation of a FLAG tag mediated by SLC35B2 and TPST2 affects antibody recognition.
    5. High SLC35B2 expression is associated with invasive ductal breast carcinoma.
      Title: SLC35B2 expression is associated with a poor prognosis of invasive ductal breast carcinoma.
    6. Results suggest that frequently downregulated miR-22 expression is associated with cell proliferation in medulloblastomas, and this may be at least in part via PAPST1, which is a novel target of miR-22
      Title: MiR-22 is frequently downregulated in medulloblastomas and inhibits cell proliferation via the novel target PAPST1.
    7. PAPS transporters play a role in the proliferation of colorectal carcinoma cells themselves and take part in a desmoplastic reaction to support cancer growth by controlling their sulfation status.
      Title: Expression and the role of 3'-phosphoadenosine 5'-phosphosulfate transporters in human colorectal carcinoma.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
    9. PAPS1 has roles in PAPS transport and post-translational sulfation
      Title: Molecular cloning and identification of 3'-phosphoadenosine 5'-phosphosulfate transporter.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Leukodystrophy, hypomyelinating, 26, with chondrodysplasia
    MedGen: C5830312 OMIM: 620269 GeneReviews: Not available
    		not available

    Variation

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    See Variation Viewer (GRCh37.p13)

    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 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		  
    enables antiporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in 3'-phospho-5'-adenylyl sulfate transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in 3'-phosphoadenosine 5'-phosphosulfate transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in 3'-phosphoadenosine 5'-phosphosulfate transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in 5'-adenylyl sulfate transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in chondroitin sulfate biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of canonical NF-kappaB signal transduction HMP PubMed 
    involved_in transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    adenosine 3'-phospho 5'-phosphosulfate transporter 1
    Names
    3'-phosphoadenosine 5'-phosphosulfate transporter
    PAPS transporter 1
    putative MAPK-activating protein PM15
    putative NF-kappa-B-activating protein 48
    solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2

    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_001286509.2 → NP_001273438.1  adenosine 3'-phospho 5'-phosphosulfate transporter 1 isoform b

      See identical proteins and their annotated locations for NP_001273438.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site that results in a frameshifted 5' coding region and translation initiation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a. Both variants 2 and 3 encode isoform b.
      Source sequence(s)
      AB106538, AK075456, AK223028, CN370928, HY044970
      UniProtKB/TrEMBL
      B3KVY9
      Conserved Domains (1) summary
      pfam08449
      Location:106 → 407
      UAA; UAA transporter family

    2. NM_001286510.2 → NP_001273439.1  adenosine 3'-phospho 5'-phosphosulfate transporter 1 isoform b

      See identical proteins and their annotated locations for NP_001273439.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, and uses an alternate splice site that results in a frameshifted 5' coding region and translation initiation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a. Both variants 2 and 3 encode isoform b.
      Source sequence(s)
      AK075456, AK223028, AK307572, DB010939
      UniProtKB/TrEMBL
      B3KVY9
      Conserved Domains (1) summary
      pfam08449
      Location:106 → 407
      UAA; UAA transporter family

    3. NM_001286511.2 → NP_001273440.1  adenosine 3'-phospho 5'-phosphosulfate transporter 1 isoform c

      See identical proteins and their annotated locations for NP_001273440.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains an alternate 5' exon and it thus differs in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a. Both variants 4 and 5 encode isoform c.
      Source sequence(s)
      AB106538, AK075456, AK223028, DA817588
      Consensus CDS
      CCDS75463.1
      UniProtKB/TrEMBL
      B3KVY9
      Related
      ENSP00000480681.1, ENST00000615337.4
      Conserved Domains (1) summary
      pfam08449
      Location:62 → 363
      UAA; UAA transporter family

    4. NM_001286512.2 → NP_001273441.1  adenosine 3'-phospho 5'-phosphosulfate transporter 1 isoform c

      See identical proteins and their annotated locations for NP_001273441.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains an alternate 5' exon and it thus differs in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a. Both variants 4 and 5 encode isoform c.
      Source sequence(s)
      AK075456, AK223028, AK307572, AY491520
      Consensus CDS
      CCDS75463.1
      UniProtKB/TrEMBL
      B3KVY9
      Conserved Domains (1) summary
      pfam08449
      Location:62 → 363
      UAA; UAA transporter family

    5. NM_001286513.2 → NP_001273442.1  adenosine 3'-phospho 5'-phosphosulfate transporter 1 isoform d

      See identical proteins and their annotated locations for NP_001273442.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks an alternate exon, resulting in a frameshifted 5' coding region and translation initiation at an alternate start codon, compared to variant 1. The encoded isoform (d) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      AK075456, AK223028, AK293344
      Consensus CDS
      CCDS69127.1
      UniProtKB/Swiss-Prot
      Q8TB61
      Related
      ENSP00000443845.1, ENST00000538577.5
      Conserved Domains (1) summary
      pfam08449
      Location:28 → 319
      UAA; UAA transporter family

    6. NM_001286517.2 → NP_001273446.1  adenosine 3'-phospho 5'-phosphosulfate transporter 1 isoform e

      See identical proteins and their annotated locations for NP_001273446.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) lacks an alternate exon, resulting in translation initiation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (e) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AB106538, AK075456, AK223028, BI769501, HY044970
      UniProtKB/Swiss-Prot
      Q8TB61
      Related
      ENST00000495706.1
      Conserved Domains (1) summary
      pfam08449
      Location:6 → 307
      UAA; UAA transporter family

    7. NM_001286519.2 → NP_001273448.1  adenosine 3'-phospho 5'-phosphosulfate transporter 1 isoform f

      See identical proteins and their annotated locations for NP_001273448.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) lacks two alternate exons, resulting in translation initiation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (f) is shorter at the N-terminus, compared to isoform a. Both variants 8 and 9 encode isoform f.
      Source sequence(s)
      AK075456, AK223028, AK293251, HY044970
      Consensus CDS
      CCDS75462.1
      UniProtKB/Swiss-Prot
      Q8TB61
      Related
      ENSP00000440340.1, ENST00000537814.2
      Conserved Domains (1) summary
      pfam08449
      Location:20 → 279
      UAA; UAA transporter family

    8. NM_001286520.2 → NP_001273449.1  adenosine 3'-phospho 5'-phosphosulfate transporter 1 isoform f

      See identical proteins and their annotated locations for NP_001273449.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) uses an alternate splice site that results in translation initiation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (f) is shorter at the N-terminus, compared to isoform a. Both variants 8 and 9 encode isoform f.
      Source sequence(s)
      AB106538, AK075456, AK223028, DA424392
      Consensus CDS
      CCDS75462.1
      UniProtKB/Swiss-Prot
      Q8TB61
      Conserved Domains (1) summary
      pfam08449
      Location:20 → 279
      UAA; UAA transporter family

    9. NM_178148.4 → NP_835361.1  adenosine 3'-phospho 5'-phosphosulfate transporter 1 isoform a

      See identical proteins and their annotated locations for NP_835361.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AB106538, AK075456, AK223028, HY044970
      Consensus CDS
      CCDS34462.1
      UniProtKB/Swiss-Prot
      B4DDM2, B4DDU9, F5H7Y9, Q2VY06, Q53GA3, Q5T9W1, Q5T9W2, Q7Z2G3, Q8NBK6, Q8TB61, Q96AR6
      UniProtKB/TrEMBL
      B3KVY9
      Related
      ENSP00000377401.3, ENST00000393812.4
      Conserved Domains (1) summary
      pfam08449
      Location:111 → 412
      UAA; UAA transporter family

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      44254101..44257890 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      44088249..44092041 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TB61.1 GenPept UniProtKB/Swiss-Prot:Q8TB61

    Gene LinkOut

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

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