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    SLC35B1 solute carrier family 35 member B1 [ Homo sapiens (human) ]

    Gene ID: 10237, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SLC35B1provided by HGNC
    Official Full Name
    solute carrier family 35 member B1provided by HGNC
    Primary source
    HGNC:HGNC:20798
    See related
    Ensembl:ENSG00000121073 MIM:610790; AllianceGenome:HGNC:20798
    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
    AXER; UGTREL1
    Summary
    This gene encodes a nucleotide sugar transporter which is a member of solute carrier family 35. The transporters in this family are highly conserved hydrophobic proteins with multiple transmembrane domains. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
    Expression
    Ubiquitous expression in thyroid (RPKM 24.3), duodenum (RPKM 18.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC35B1 in Genome Data Viewer
    Location:
    17q21.33
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (49700943..49708197, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (50564044..50571286, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (47778305..47785326, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:47654119-47654649 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:47659009-47659562 Neighboring gene neurexophilin 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:47683760-47683957 Neighboring gene uncharacterized LOC107984999 Neighboring gene NANOG hESC enhancer GRCh37_chr17:47695165-47695679 Neighboring gene speckle type BTB/POZ protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12366 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12368 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:47784629-47785262 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:47785263-47785896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:47796530-47797090 Neighboring gene family with sequence similarity 117 member A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12370 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8674 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8675 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:47865191-47865964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12372 Neighboring gene SRP14 pseudogene 3 Neighboring gene lysine acetyltransferase 7

    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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    Related articles in PubMed

    1. The broad range di- and tri-nucleotide exchanger SLC35B1 displays asymmetrical affinities for ATP transport across the ER membrane. Schwarzbaum PJ, et al. J Biol Chem, 2022 Apr. PMID 35041824, Free PMC Article
    2. SLC35B1 significantly contributes to the uptake of UDPGA into the endoplasmic reticulum for glucuronidation catalyzed by UDP-glucuronosyltransferases. Ondo K, et al. Biochem Pharmacol, 2020 May. PMID 32179043
    3. AXER is an ATP/ADP exchanger in the membrane of the endoplasmic reticulum. Klein MC, et al. Nat Commun, 2018 Aug 28. PMID 30154480, Free PMC Article
    4. Roles of the nucleotide sugar transporters (SLC35 family) in health and disease. Song Z. Mol Aspects Med, 2013 Apr-Jun. PMID 23506892
    5. The ortholog of human solute carrier family 35 member B1 (UDP-galactose transporter-related protein 1) is involved in maintenance of ER homeostasis and essential for larval development in Caenorhabditis elegans. Dejima K, et al. FASEB J, 2009 Jul. PMID 19270184, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The broad range di- and tri-nucleotide exchanger SLC35B1 displays asymmetrical affinities for ATP transport across the ER membrane.
      Title: The broad range di- and tri-nucleotide exchanger SLC35B1 displays asymmetrical affinities for ATP transport across the ER membrane.
    2. SLC35B1 significantly contributes to the uptake of UDPGA into the endoplasmic reticulum for glucuronidation catalyzed by UDP-glucuronosyltransferases.
      Title: SLC35B1 significantly contributes to the uptake of UDPGA into the endoplasmic reticulum for glucuronidation catalyzed by UDP-glucuronosyltransferases.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
    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)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of solute carrier family 35, member B1 (SLC35B1) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Go to the HIV-1, Human Interaction Database

    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 ATP:ADP antiporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables UDP-galactose transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables UDP-glucose transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in ADP transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ATP transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in UDP-galactose transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in UDP-glucose transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intracellular membrane-bounded organelle TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    solute carrier family 35 member B1
    Names
    ATP/ADP exchanger ER
    ATP/ADP exchanger in the ER membrane
    UDP-galactose transporter related
    UDP-galactose transporter-related protein 1
    endoplasmic reticulum ATP/ADP translocase

    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_001278784.2 → NP_001265713.1  solute carrier family 35 member B1 isoform 2

      See identical proteins and their annotated locations for NP_001265713.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' coding region and initiates translation at downstream start codon compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC015795, AI252816, AU309730, CX164572
      UniProtKB/TrEMBL
      D6R981
      Conserved Domains (1) summary
      pfam08449
      Location:18 → 242
      UAA; UAA transporter family

    2. NM_005827.4 → NP_005818.3  solute carrier family 35 member B1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
      Source sequence(s)
      AC015795, AI252816, AU099388, BM476321, D87989
      Consensus CDS
      CCDS11552.3
      UniProtKB/Swiss-Prot
      B4DEC4, J3KQV4, P78383, Q96EW7
      Related
      ENSP00000240333.8, ENST00000240333.12
      Conserved Domains (1) summary
      pfam08449
      Location:16 → 309
      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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      49700943..49708197 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524180.3 → XP_011522482.1  solute carrier family 35 member B1 isoform X3

      See identical proteins and their annotated locations for XP_011522482.1

      UniProtKB/TrEMBL
      D6R981
      Related
      ENSP00000423323.1, ENST00000503334.5
      Conserved Domains (1) summary
      pfam08449
      Location:18 → 242
      UAA; UAA transporter family

    2. XM_011524179.3 → XP_011522481.1  solute carrier family 35 member B1 isoform X2

      Conserved Domains (2) summary
      pfam08449
      Location:53 → 303
      UAA; UAA transporter family
      cl23754
      Location:199 → 303
      EamA; EamA-like transporter family

    3. XM_006721632.4 → XP_006721695.1  solute carrier family 35 member B1 isoform X1

      Conserved Domains (1) summary
      pfam08449
      Location:53 → 380
      UAA; UAA transporter family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      50564044..50571286 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314671.1 → XP_054170646.1  solute carrier family 35 member B1 isoform X3

    2. XM_054314670.1 → XP_054170645.1  solute carrier family 35 member B1 isoform X2

    3. XM_054314669.1 → XP_054170644.1  solute carrier family 35 member B1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P78383.1 GenPept UniProtKB/Swiss-Prot:P78383

    Gene LinkOut

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

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