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SLC35E3 solute carrier family 35 member E3 [ Homo sapiens (human) ]

Gene ID: 55508, updated on 3-Nov-2024

Summary

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Official Symbol
SLC35E3provided by HGNC
Official Full Name
solute carrier family 35 member E3provided by HGNC
Primary source
HGNC:HGNC:20864
See related
Ensembl:ENSG00000175782 MIM:620355; AllianceGenome:HGNC:20864
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
BLOV1
Summary
Predicted to enable antiporter activity and nucleotide-sugar transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be located in membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in brain (RPKM 2.4), kidney (RPKM 2.2) and 25 other tissues See more
Orthologs
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Genomic context

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See SLC35E3 in Genome Data Viewer
Location:
12q15
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (68746176..68781468)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (68725733..68761041)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (69139956..69175248)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100507250 Neighboring gene ribosomal protein L7 pseudogene 42 Neighboring gene nucleoporin 107 Neighboring gene keratin 8 pseudogene 39 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:69139629-69140319 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6644 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6645 Neighboring gene MAPK activated protein kinase 2 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:69181025-69181579 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:69181580-69182133 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4648 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:69202246-69203445 Neighboring gene SZRD1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6647 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:69225023-69225696 Neighboring gene MDM2 proto-oncogene Neighboring gene carboxypeptidase M

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. Identification of epigenetic interactions between miRNA and DNA methylation associated with gene expression as potential prognostic markers in bladder cancer. Shivakumar M, et al. BMC Med Genomics, 2017 May 24. PMID 28589857, Free PMC Article
  2. Comparative analyses of gene copy number and mRNA expression in glioblastoma multiforme tumors and xenografts. Hodgson JG, et al. Neuro Oncol, 2009 Oct. PMID 19139420, Free PMC Article
  3. Genome-wide association study of hematological and biochemical traits in a Japanese population. Kamatani Y, et al. Nat Genet, 2010 Mar. PMID 20139978
  4. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. Chen Y, et al. Mol Cell Proteomics, 2013 Oct. PMID 23824909, Free PMC Article
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

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

EBI GWAS Catalog

Description
Genome-wide association study of hematological and biochemical traits in a Japanese population.
EBI GWAS Catalog

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

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 antiporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables nucleotide-sugar 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 carbohydrate derivative transport IEA
Inferred from Electronic Annotation
more info
  
involved_in nucleobase-containing compound transport IEA
Inferred from Electronic Annotation
more info
  
involved_in transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
solute carrier family 35 member E3
Names
bladder cancer-overexpressed gene 1 protein
solute carrier family 35, member E2

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_001354997.3 → NP_001341926.1  solute carrier family 35 member E3 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC124890
    Conserved Domains (1) summary
    cl26744
    Location:145 → 257
    TPT; Triose-phosphate Transporter family

  2. NM_001354998.2 → NP_001341927.1  solute carrier family 35 member E3 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC124890
    UniProtKB/TrEMBL
    A0A669KB01
    Conserved Domains (1) summary
    cl26744
    Location:16 → 253
    TPT; Triose-phosphate Transporter family

  3. NM_018656.5 → NP_061126.2  solute carrier family 35 member E3 isoform 1

    See identical proteins and their annotated locations for NP_061126.2

    Status: VALIDATED

    Source sequence(s)
    AC124890
    Consensus CDS
    CCDS41808.1
    UniProtKB/Swiss-Prot
    A8K0T0, Q0P5Y5, Q7Z769, Q9P0V1
    Related
    ENSP00000381089.2, ENST00000398004.4
    Conserved Domains (1) summary
    cl26744
    Location:16 → 294
    TPT; Triose-phosphate Transporter family

RNA

  1. NR_149143.3 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC124890

  2. NR_149144.3 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC124890

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    68746176..68781468
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    68725733..68761041
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7Z769.1 GenPept UniProtKB/Swiss-Prot:Q7Z769

Gene LinkOut

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