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

Gene ID: 10237, updated on 11-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (49700943..49708197, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (50564044..50571286, complement)
105.20220307 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
  • 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_2023_10

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

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