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

Gene ID: 254910, updated on 11-Jun-2021

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
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Genomic context

See LCE5A 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 (152510803..152512177)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (152483279..152484653)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene high mobility group nucleosomal binding domain 3 pseudogene 1 Neighboring gene cornulin Neighboring gene cysteine rich C-terminal 1 Neighboring gene late cornified envelope 3E

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

Phenotypes

Associated conditions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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

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.

mRNA and Protein(s)

  1. NM_178438.5NP_848525.1  late cornified envelope protein 5A

    See identical proteins and their annotated locations for NP_848525.1

    Status: VALIDATED

    Source sequence(s)
    AL135842
    Consensus CDS
    CCDS1011.1
    UniProtKB/Swiss-Prot
    Q5TCM9
    Related
    ENSP00000333952.2, ENST00000334269.3

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
    152510803..152512177
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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