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    EXOC3L4 exocyst complex component 3 like 4 [ Homo sapiens (human) ]

    Gene ID: 91828, updated on 10-Dec-2024

    Summary

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    Official Symbol
    EXOC3L4provided by HGNC
    Official Full Name
    exocyst complex component 3 like 4provided by HGNC
    Primary source
    HGNC:HGNC:20120
    See related
    Ensembl:ENSG00000205436 AllianceGenome:HGNC:20120
    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
    C14orf73
    Summary
    Predicted to enable SNARE binding activity. Predicted to be involved in exocyst localization and exocytosis. Predicted to be part of exocyst. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in duodenum (RPKM 4.9), small intestine (RPKM 2.6) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EXOC3L4 in Genome Data Viewer
    Location:
    14q32.32
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (103094174..103110559)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (97330672..97354998)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (103561062..103576896)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene CDC42 binding protein kinase beta Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6137 Neighboring gene ribosomal protein L13 pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6138 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6139 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6140 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:103524373-103525023 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:103541151-103541742 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6141 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9094 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:103559931-103560500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:103561071-103561640 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:103564684-103564853 Neighboring gene LBH domain containing 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:103570895-103571645 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9095 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6144 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:103576032-103576642 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:103576643-103577253 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9096 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:103588729-103589261 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:103589262-103589795 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6146 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:103594547-103595312 Neighboring gene long intergenic non-protein coding RNA 677 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:103598606-103599176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:103599177-103599745 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:103601649-103602150 Neighboring gene TNF alpha induced protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9097 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9098 Neighboring gene NADH:ubiquinone oxidoreductase subunit B4 pseudogene 11

    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. Rare variants in the splicing regulatory elements of EXOC3L4 are associated with brain glucose metabolism in Alzheimer's disease. Miller JE, et al. BMC Med Genomics, 2018 Sep 14. PMID 30255815, Free PMC Article
    2. Loci affecting gamma-glutamyl transferase in adults and adolescents show age × SNP interaction and cardiometabolic disease associations. Middelberg RP, et al. Hum Mol Genet, 2012 Jan 15. PMID 22010049, Free PMC Article
    3. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. Chambers JC, et al. Nat Genet, 2011 Oct 16. PMID 22001757, Free PMC Article
    4. New gene functions in megakaryopoiesis and platelet formation. Gieger C, et al. Nature, 2011 Nov 30. PMID 22139419, Free PMC Article
    5. Pro-prion, as a membrane adaptor protein for E3 ligase c-Cbl, facilitates the ubiquitination of IGF-1R, promoting melanoma metastasis. Li H, et al. Cell Rep, 2022 Dec 20. PMID 36543142

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Rare variants in the splicing regulatory elements of EXOC3L4 are associated with Alzheimer's disease.
      Title: Rare variants in the splicing regulatory elements of EXOC3L4 are associated with brain glucose metabolism in Alzheimer's disease.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    EBI GWAS Catalog
    Loci affecting gamma-glutamyl transferase in adults and adolescents show age × SNP interaction and cardiometabolic disease associations.
    EBI GWAS Catalog
    New gene functions in megakaryopoiesis and platelet formation.
    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 SNARE binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in exocyst localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of exocyst IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    exocyst complex component 3-like protein 4
    Names
    SEC6-like protein C14orf73

    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_001077594.2 → NP_001071062.1  exocyst complex component 3-like protein 4

      See identical proteins and their annotated locations for NP_001071062.1

      Status: VALIDATED

      Source sequence(s)
      AL161669
      Consensus CDS
      CCDS32163.1
      UniProtKB/Swiss-Prot
      Q14CR2, Q17RC7
      Related
      ENSP00000509130.1, ENST00000688303.1
      Conserved Domains (1) summary
      pfam06046
      Location:180 → 709
      Sec6; Exocyst complex component Sec6

    2. NM_001394941.1 → NP_001381870.1  exocyst complex component 3-like protein 4

      Status: VALIDATED

      Source sequence(s)
      AL161669
      Consensus CDS
      CCDS32163.1
      UniProtKB/Swiss-Prot
      Q14CR2, Q17RC7
      Related
      ENSP00000508483.1, ENST00000687959.1
      Conserved Domains (1) summary
      pfam06046
      Location:180 → 709
      Sec6; Exocyst complex component Sec6

    3. NM_001394942.1 → NP_001381871.1  exocyst complex component 3-like protein 4

      Status: VALIDATED

      Source sequence(s)
      AL161669
      Consensus CDS
      CCDS32163.1
      UniProtKB/Swiss-Prot
      Q14CR2, Q17RC7
      Conserved Domains (1) summary
      pfam06046
      Location:180 → 709
      Sec6; Exocyst complex component Sec6

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      103094174..103110559
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011537333.3 → XP_011535635.1  exocyst complex component 3-like protein 4 isoform X3

      Conserved Domains (1) summary
      pfam06046
      Location:217 → 746
      Sec6; Exocyst complex component Sec6

    2. XM_011537332.3 → XP_011535634.1  exocyst complex component 3-like protein 4 isoform X1

      See identical proteins and their annotated locations for XP_011535634.1

      UniProtKB/Swiss-Prot
      Q14CR2, Q17RC7
      Conserved Domains (1) summary
      pfam06046
      Location:180 → 709
      Sec6; Exocyst complex component Sec6

    3. XM_011537330.3 → XP_011535632.1  exocyst complex component 3-like protein 4 isoform X1

      See identical proteins and their annotated locations for XP_011535632.1

      UniProtKB/Swiss-Prot
      Q14CR2, Q17RC7
      Conserved Domains (1) summary
      pfam06046
      Location:180 → 709
      Sec6; Exocyst complex component Sec6

    4. XM_011537331.2 → XP_011535633.1  exocyst complex component 3-like protein 4 isoform X1

      See identical proteins and their annotated locations for XP_011535633.1

      UniProtKB/Swiss-Prot
      Q14CR2, Q17RC7
      Conserved Domains (1) summary
      pfam06046
      Location:180 → 709
      Sec6; Exocyst complex component Sec6

    5. XM_011537329.3 → XP_011535631.1  exocyst complex component 3-like protein 4 isoform X1

      See identical proteins and their annotated locations for XP_011535631.1

      UniProtKB/Swiss-Prot
      Q14CR2, Q17RC7
      Conserved Domains (1) summary
      pfam06046
      Location:180 → 709
      Sec6; Exocyst complex component Sec6

    6. XM_011537323.4 → XP_011535625.2  exocyst complex component 3-like protein 4 isoform X1

      UniProtKB/Swiss-Prot
      Q14CR2, Q17RC7
      Related
      ENSP00000369409.3, ENST00000380069.7

    7. XM_011537324.3 → XP_011535626.2  exocyst complex component 3-like protein 4 isoform X2

    8. XM_047431922.1 → XP_047287878.1  exocyst complex component 3-like protein 4 isoform X6

    9. XM_047431921.1 → XP_047287877.1  exocyst complex component 3-like protein 4 isoform X5

    10. XM_011537334.2 → XP_011535636.1  exocyst complex component 3-like protein 4 isoform X4

      Conserved Domains (1) summary
      pfam06046
      Location:1 → 530
      Sec6; Exocyst complex component Sec6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      97330672..97354998
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376982.1 → XP_054232957.1  exocyst complex component 3-like protein 4 isoform X3

    2. XM_054376987.1 → XP_054232962.1  exocyst complex component 3-like protein 4 isoform X1

    3. XM_054376985.1 → XP_054232960.1  exocyst complex component 3-like protein 4 isoform X1

    4. XM_054376986.1 → XP_054232961.1  exocyst complex component 3-like protein 4 isoform X1

    5. XM_054376984.1 → XP_054232959.1  exocyst complex component 3-like protein 4 isoform X1

    6. XM_054376990.1 → XP_054232965.1  exocyst complex component 3-like protein 4 isoform X10

    7. XM_054376983.1 → XP_054232958.1  exocyst complex component 3-like protein 4 isoform X9

    8. XM_054376981.1 → XP_054232956.1  exocyst complex component 3-like protein 4 isoform X8

    9. XM_054376980.1 → XP_054232955.1  exocyst complex component 3-like protein 4 isoform X7

    10. XM_054376988.1 → XP_054232963.1  exocyst complex component 3-like protein 4 isoform X4

    11. XM_054376989.1 → XP_054232964.1  exocyst complex component 3-like protein 4 isoform X5

    12. XM_054376991.1 → XP_054232966.1  exocyst complex component 3-like protein 4 isoform X11

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q17RC7.2 GenPept UniProtKB/Swiss-Prot:Q17RC7

    Gene LinkOut

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

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