EXOC3L1 exocyst complex component 3 like 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EXOC3L1provided by HGNC
Official Full Name: exocyst complex component 3 like 1provided by HGNC
Primary source: HGNC:HGNC:27540
See related: Ensembl:ENSG00000179044 MIM:614117; AllianceGenome:HGNC:27540
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: EXOC3L
Summary: Predicted to enable SNARE binding activity. Predicted to be involved in exocyst localization; exocytosis; and peptide hormone secretion. Predicted to be located in secretory granule. Predicted to be part of exocyst. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in spleen (RPKM 14.8), placenta (RPKM 3.6) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q22.1

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (67184379..67190136, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (72978663..72984420, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (67218282..67224039, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

EXOC3L1: A Novel Prognostic Biomarker Correlated with Immune Infiltration in Esophageal Squamous Cell Carcinoma.
Title: EXOC3L1: A Novel Prognostic Biomarker Correlated with Immune Infiltration in Esophageal Squamous Cell Carcinoma.
EXOC3L1 is strongly expressed in vascular endothelium and forms part of the exocyst complex, a key facilitator of the trafficking of lipid receptors
Title: Genetic meta-analysis of 15,901 African Americans identifies variation in EXOC3L1 is associated with HDL concentration.

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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 coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SNARE binding	IBA Inferred from Biological aspect of Ancestor more info
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

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
involved_in exocytosis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in peptide hormone secretion	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Component	Evidence Code	Pubs
part_of exocyst	IBA Inferred from Biological aspect of Ancestor more info
part_of exocyst	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in secretory granule	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in transport vesicle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: exocyst complex component 3-like protein

Names: protein Jiangli

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.