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

Gene ID: 347734, updated on 11-Apr-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
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Genomic context

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Location:
6p21.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (44254101..44257890, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (44088249..44092041, complement)
105.20220307 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 RNA polymerase I and III subunit C 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 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 H3K27ac hESC enhancer GRCh37_chr6:44224854-44225567 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:44222709-44223424 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24635 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 24637 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24636 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:44232415-44232914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:44243146-44243938 Neighboring gene solute carrier family 29 member 1 (Augustine blood group) Neighboring gene heat shock protein 90 alpha family class B member 1 Neighboring gene microRNA 4647 Neighboring gene transmembrane protein 151B Neighboring gene NFKB inhibitor epsilon 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
  • 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. Differential genetic associations and expression of PAPST1/SLC35B2 in bipolar disorder and schizophrenia. Uezato A, et al. J Neural Transm (Vienna), 2022 Jul. PMID 35501530
  2. Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy. Guasto A, et al. Brain, 2022 Oct 21. PMID 35325049
  3. SLC35B2 expression is associated with a poor prognosis of invasive ductal breast carcinoma. Chim-ong A, et al. Asian Pac J Cancer Prev, 2014. PMID 25124574
  4. Sulfation of a FLAG tag mediated by SLC35B2 and TPST2 affects antibody recognition. Guo XY, et al. PLoS One, 2021. PMID 33951064, Free PMC Article
  5. MiR-22 is frequently downregulated in medulloblastomas and inhibits cell proliferation via the novel target PAPST1. Xu QF, et al. Brain Pathol, 2014 Nov. PMID 24576181, Free PMC Article

See all (38) citations in PubMed

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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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 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 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_2023_10

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

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