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EVPLL envoplakin like [ Homo sapiens (human) ]

Gene ID: 645027, updated on 17-Sep-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 enable structural molecule activity. Predicted to be involved in intermediate filament cytoskeleton organization and wound healing. Predicted to be located in cornified envelope. Predicted to be active in cytoplasm and membrane. Predicted to colocalize with intermediate filament. [provided by Alliance of Genome Resources, Apr 2022]
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: 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. 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)

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

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

Gene LinkOut

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