LCE5A late cornified envelope 5A [Homo sapiens (human)] - Gene

Summary

Official Symbol: LCE5Aprovided by HGNC
Official Full Name: late cornified envelope 5Aprovided by HGNC
Primary source: HGNC:HGNC:16614
See related: Ensembl:ENSG00000186207 MIM:612619
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
Also known as: LEP18; SPRL5A
Expression: Restricted expression toward skin (RPKM 22.8) See more
Orthologs: all
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Genomic context

Location:: 1q21.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
109.20210514	current	GRCh38.p13 (GCF_000001405.39)	1	NC_000001.11 (152510803..152512177)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (152483279..152484653)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: Variation in genes of the epidermal differentiation complex in German atopic dermatitis patients.
paper describing nomenclature changes and expression in range of tissues and in response to UV
Title: Late cornified envelope family in differentiating epithelia--response to calcium and ultraviolet irradiation.

Submit: New GeneRIF Correction

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

Associated conditions

Description	Tests
Common variants in the trichohyalin gene are associated with straight hair in Europeans. GeneReviews: Not available

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

SPRL5A__5301 (e-PCR)
- UniSTS:463908

NoName (e-PCR)
- UniSTS:494910

UniSTS:483006 (e-PCR)
- UniSTS:483006

Homology

Orthologs from Annotation Pipeline: 22 organisms have orthologs with human gene LCE5A

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in keratinization	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: late cornified envelope protein 5A

Names: late envelope protein 18; small proline rich-like (epidermal differentiation complex) 5A; small proline-rich-like epidermal differentiation complex protein 5A

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.