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IVL involucrin [ Homo sapiens (human) ]

Gene ID: 3713, updated on 8-Jul-2021

Summary

Official Symbol
IVLprovided by HGNC
Official Full Name
involucrinprovided by HGNC
Primary source
HGNC:HGNC:6187
See related
Ensembl:ENSG00000163207 MIM:147360
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Involucrin, a component of the keratinocyte crosslinked envelope, is found in the cytoplasm and crosslinked to membrane proteins by transglutaminase. This gene is mapped to 1q21, among calpactin I light chain, trichohyalin, profillaggrin, loricrin, and calcyclin. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward esophagus (RPKM 127.7) See more
Orthologs
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Genomic context

See IVL in Genome Data Viewer
Location:
1q21.3
Exon count:
2
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (152908546..152911886)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (152881022..152884362)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371445 Neighboring gene sperm mitochondria associated cysteine rich protein Neighboring gene IVL promoter region Neighboring gene long intergenic non-protein coding RNA 1527 Neighboring gene small proline rich protein 4

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine TAS
Traceable Author Statement
more info
PubMed 
involved_in keratinization IEA
Inferred from Electronic Annotation
more info
 
involved_in keratinocyte differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in peptide cross-linking IDA
Inferred from Direct Assay
more info
PubMed 
involved_in response to UV-B IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in centrosome IDA
Inferred from Direct Assay
more info
 
located_in cornified envelope IDA
Inferred from Direct Assay
more info
PubMed 
located_in cornified envelope TAS
Traceable Author Statement
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 
located_in nuclear body IDA
Inferred from Direct Assay
more info
 

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.

Genomic

  1. NG_033018.1 RefSeqGene

    Range
    4983..8324
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005547.4NP_005538.2  involucrin

    See identical proteins and their annotated locations for NP_005538.2

    Status: REVIEWED

    Source sequence(s)
    AK300492, AL162596, BC046391, DC387410
    Consensus CDS
    CCDS1030.1
    UniProtKB/Swiss-Prot
    P07476
    Related
    ENSP00000357753.3, ENST00000368764.4
    Conserved Domains (1) summary
    pfam10583
    Location:169
    Involucrin_N; Involucrin of squamous epithelia N-terminus

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    152908546..152911886
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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