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EXOC1L exocyst complex component 1 like [ Homo sapiens (human) ]

Gene ID: 644145, updated on 5-Mar-2024

Summary

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Official Symbol
EXOC1Lprovided by HGNC
Official Full Name
exocyst complex component 1 likeprovided by HGNC
Primary source
HGNC:HGNC:53433
See related
Ensembl:ENSG00000250821 AllianceGenome:HGNC:53433
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 phosphatidylinositol-4,5-bisphosphate binding activity. Predicted to be involved in Golgi to plasma membrane transport and exocytosis. Predicted to be part of exocyst. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
all
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Genomic context

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Location:
4q12
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (55819790..55837489)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (59307935..59325634)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (56685956..56703655)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377660 Neighboring gene CRISPRi-validated cis-regulatory element chr4.1623 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:56573715-56574216 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:56574217-56574716 Neighboring gene CRISPRi-validated cis-regulatory element chr4.1625 Neighboring gene CRISPRi-validated cis-regulatory element chr4.1626 Neighboring gene CRISPRi-validated cis-regulatory element chr4.1627 Neighboring gene CRISPRi-validated cis-regulatory element chr4.1628 Neighboring gene Sharpr-MPRA regulatory region 7030 Neighboring gene RNA, U6 small nuclear 276, pseudogene Neighboring gene uncharacterized LOC105377661 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:56707633-56708266 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:56708267-56708900 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15445 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:56726227-56727426 Neighboring gene exocyst complex component 1 Neighboring gene uncharacterized LOC105377663 Neighboring gene RNA, U6 small nuclear 652, pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:56786864-56788063 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21575

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. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
  2. 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
  3. 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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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

General gene information

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Homology

General protein information

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Preferred Names
exocyst complex component 1-like
Names
exocyst -like pseudogene
exocyst complex component 1 pseudogene

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_001351574.3 → NP_001338503.1  exocyst complex component 1-like isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC110611
    Consensus CDS
    CCDS87223.1
    UniProtKB/Swiss-Prot
    A0A1B0GW35
    Related
    ENSP00000490760.1, ENST00000636125.2
    Conserved Domains (1) summary
    cd14682
    Location:2 → 119
    PH-EXOC1_like; PH-like domain of Exocyst complex component 1-like

  2. NM_001351575.3 → NP_001338504.1  exocyst complex component 1-like isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC110611
    Conserved Domains (1) summary
    cl17171
    Location:1 → 69
    PH-like; Pleckstrin homology-like domain

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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    55819790..55837489
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024454185.2 → XP_024309953.1  exocyst complex component 1-like isoform X1

    Conserved Domains (1) summary
    cl17171
    Location:1 → 69
    PH-like; Pleckstrin homology-like domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    59307935..59325634
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350713.1 → XP_054206688.1  exocyst complex component 1-like isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A0A1B0GW35.1 GenPept UniProtKB/Swiss-Prot:A0A1B0GW35

Gene LinkOut

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Molecular Biology Databases
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