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    SLC35E4 solute carrier family 35 member E4 [ Homo sapiens (human) ]

    Gene ID: 339665, updated on 11-Apr-2024

    Summary

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    Official Symbol
    SLC35E4provided by HGNC
    Official Full Name
    solute carrier family 35 member E4provided by HGNC
    Primary source
    HGNC:HGNC:17058
    See related
    Ensembl:ENSG00000100036 AllianceGenome:HGNC:17058
    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
    Summary
    Predicted to enable antiporter activity. Predicted to be involved in transmembrane transport. Predicted to be integral component of membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis (RPKM 3.9), colon (RPKM 1.3) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    22q12.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (30635781..30669019)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (31097725..31132558)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (31031768..31065006)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:30982632-30983831 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:30987725-30988440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18840 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31002947-31003526 Neighboring gene Sharpr-MPRA regulatory region 4664 Neighboring gene pescadillo ribosomal biogenesis factor 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31030490-31031194 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13614 Neighboring gene transcobalamin 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31042177-31042759 Neighboring gene ribosomal protein L13a pseudogene 26 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18842 Neighboring gene dual specificity phosphatase 18 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13615 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13616 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:31112835-31114034 Neighboring gene oxysterol binding protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18843 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18844 Neighboring gene microRNA 3200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13617 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13618 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:31168653-31169152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31175847-31176347 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13619 Neighboring gene Sharpr-MPRA regulatory region 14933 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31206089-31206590 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31217603-31218510 Neighboring gene OSBP2 intron CAGE-defined high expression enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18845 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:31225743-31226942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31259058-31259558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31259559-31260059 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31264006-31264542 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31264543-31265078 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31268713-31269213 Neighboring gene uncharacterized LOC105372994

    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. A genome annotation-driven approach to cloning the human ORFeome. Collins JE, et al. Genome Biol, 2004. PMID 15461802, Free PMC Article
    2. RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation. Wu SF, et al. Proc Natl Acad Sci U S A, 2020 Jun 23. PMID 32513696, Free PMC Article
    3. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    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

    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

    Clone Names

    • MGC129826

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables antiporter 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 transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    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 E4

    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_001001479.4 → NP_001001479.1  solute carrier family 35 member E4 isoform 1

      See identical proteins and their annotated locations for NP_001001479.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC005006, BC040191
      Consensus CDS
      CCDS13882.1
      UniProtKB/Swiss-Prot
      Q567P0, Q6ICL7
      Related
      ENSP00000339626.4, ENST00000343605.5
      Conserved Domains (3) summary
      pfam00892
      Location:188 → 324
      EamA; EamA-like transporter family
      pfam03151
      Location:54 → 325
      TPT; Triose-phosphate Transporter family
      cl23754
      Location:51 → 178
      EamA; EamA-like transporter family

    2. NM_001318370.2 → NP_001305299.1  solute carrier family 35 member E4 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC003072, AC005006, BC040191, BC093099
      Consensus CDS
      CCDS82708.1
      UniProtKB/Swiss-Prot
      Q6ICL7
      Related
      ENSP00000384377.1, ENST00000406566.1
      Conserved Domains (1) summary
      pfam00892
      Location:51 → 178
      EamA; EamA-like transporter family

    3. NM_001318371.2 → NP_001305300.1  solute carrier family 35 member E4 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR compared to variant 1. The encoded isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC003072, AC005006, BC040191, BC063569
      UniProtKB/TrEMBL
      H7C3S2
      Related
      ENSP00000413552.1, ENST00000451479.1

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      30635781..30669019
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      31097725..31132558
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325593.1 → XP_054181568.1  solute carrier family 35 member E4 isoform X1

      UniProtKB/Swiss-Prot
      Q567P0, Q6ICL7

    2. XM_054325594.1 → XP_054181569.1  solute carrier family 35 member E4 isoform X1

      UniProtKB/Swiss-Prot
      Q567P0, Q6ICL7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ICL7.1 GenPept UniProtKB/Swiss-Prot:Q6ICL7

    Gene LinkOut

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

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