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

Gene ID: 91828, updated on 28-Oct-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, Oct 2024]
Expression
Biased expression in duodenum (RPKM 4.9), small intestine (RPKM 2.6) and 10 other tissues See more
Orthologs
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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 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)

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 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

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