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

    Gene ID: 55508, updated on 27-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
    mouse all
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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
    • 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)

    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 organophosphate ester 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

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

    Chemical Information
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