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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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