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

Gene ID: 339665, updated on 2-Nov-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 located in membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Nov 2024]
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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See SLC35E4 in Genome Data Viewer
Location:
22q12.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (30635781..30669019)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (31097725..31132558)
RS_2024_09 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 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)

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
  
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_2024_08

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

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