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    EVPLL envoplakin like [ Homo sapiens (human) ]

    Gene ID: 645027, updated on 10-Dec-2024

    Summary

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    Official Symbol
    EVPLLprovided by HGNC
    Official Full Name
    envoplakin likeprovided by HGNC
    Primary source
    HGNC:HGNC:35236
    See related
    Ensembl:ENSG00000214860 AllianceGenome:HGNC:35236
    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 be involved in intermediate filament cytoskeleton organization. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in skin (RPKM 3.2), esophagus (RPKM 2.4) and 9 other tissues See more
    Orthologs
    all
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    Genomic context

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    See EVPLL in Genome Data Viewer
    Location:
    17p11.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (18377778..18389647)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (18324591..18336469)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (18281092..18292961)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:18218405-18218928 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:18224803-18224995 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18225507-18226008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18226009-18226508 Neighboring gene SMCR8-C9orf72 complex subunit Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8275 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18233711-18234211 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18235020-18235826 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18235827-18236631 Neighboring gene serine hydroxymethyltransferase 1 Neighboring gene microRNA 6778 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8276 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18276669-18277169 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18283393-18283894 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18285838-18286409 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18286410-18286980 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18292166-18292878 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18302365-18302865 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:18303020-18303520 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:18303521-18304021 Neighboring gene TBC1 domain family member 3 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11838 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:18315706-18316530 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:18316531-18317354 Neighboring gene long intergenic non-protein coding RNA 2076

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. The Tumor Suppressor CIC Directly Regulates MAPK Pathway Genes via Histone Deacetylation. Weissmann S, et al. Cancer Res, 2018 Aug 1. PMID 29844126, Free PMC Article
    2. Histone deacetylase inhibitors inhibit cervical cancer growth through Parkin acetylation-mediated mitophagy. Sun X, et al. Acta Pharm Sin B, 2022 Feb. PMID 35256949, Free PMC Article
    3. 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
    4. 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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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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)

    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

    Process Evidence Code Pubs
    involved_in intermediate filament cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    envoplakin-like protein

    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_001145127.2 → NP_001138599.1  envoplakin-like protein

      See identical proteins and their annotated locations for NP_001138599.1

      Status: VALIDATED

      Source sequence(s)
      BC036791
      Consensus CDS
      CCDS45626.1
      UniProtKB/Swiss-Prot
      A8MZ36, B4DPD4
      Related
      ENSP00000382086.4, ENST00000399134.5
      Conserved Domains (1) summary
      cl02488
      Location:193 → 292
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      18377778..18389647
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436537.1 → XP_047292493.1  envoplakin-like protein isoform X1

      UniProtKB/Swiss-Prot
      A8MZ36, B4DPD4

    2. XM_011523985.3 → XP_011522287.1  envoplakin-like protein isoform X4

      See identical proteins and their annotated locations for XP_011522287.1

      Conserved Domains (1) summary
      pfam04094
      Location:72 → 183
      DUF390; Protein of unknown function (DUF390)

    3. XM_011523982.3 → XP_011522284.1  envoplakin-like protein isoform X2

      Conserved Domains (1) summary
      cl02488
      Location:190 → 289
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    4. XM_047436538.1 → XP_047292494.1  envoplakin-like protein isoform X6

    5. XM_011523983.3 → XP_011522285.1  envoplakin-like protein isoform X3

      Conserved Domains (1) summary
      cl02488
      Location:193 → 292
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    6. XM_011523987.3 → XP_011522289.1  envoplakin-like protein isoform X7

    7. XM_011523986.3 → XP_011522288.1  envoplakin-like protein isoform X5

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_017363819.1 Reference GRCh38.p14 PATCHES

      Range
      147757..159631
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332092.1 → XP_054188067.1  envoplakin-like protein isoform X1

      UniProtKB/Swiss-Prot
      A8MZ36, B4DPD4

    2. XM_054332095.1 → XP_054188070.1  envoplakin-like protein isoform X4

    3. XM_054332093.1 → XP_054188068.1  envoplakin-like protein isoform X2

    4. XM_054332097.1 → XP_054188072.1  envoplakin-like protein isoform X6

    5. XM_054332094.1 → XP_054188069.1  envoplakin-like protein isoform X3

    6. XM_054332098.1 → XP_054188073.1  envoplakin-like protein isoform X7

    7. XM_054332096.1 → XP_054188071.1  envoplakin-like protein isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      18324591..18336469
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316921.1 → XP_054172896.1  envoplakin-like protein isoform X1

      UniProtKB/Swiss-Prot
      A8MZ36, B4DPD4

    2. XM_054316924.1 → XP_054172899.1  envoplakin-like protein isoform X4

    3. XM_054316922.1 → XP_054172897.1  envoplakin-like protein isoform X2

    4. XM_054316926.1 → XP_054172901.1  envoplakin-like protein isoform X6

    5. XM_054316923.1 → XP_054172898.1  envoplakin-like protein isoform X3

    6. XM_054316927.1 → XP_054172902.1  envoplakin-like protein isoform X7

    7. XM_054316925.1 → XP_054172900.1  envoplakin-like protein isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A8MZ36.1 GenPept UniProtKB/Swiss-Prot:A8MZ36

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