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LCE1D late cornified envelope 1D [ Homo sapiens (human) ]

Gene ID: 353134, updated on 27-Nov-2024

Summary

Official Symbol
LCE1Dprovided by HGNC
Official Full Name
late cornified envelope 1Dprovided by HGNC
Primary source
HGNC:HGNC:29465
See related
Ensembl:ENSG00000172155 MIM:612606; AllianceGenome:HGNC:29465
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
LEP4
Summary
Enables identical protein binding activity. Involved in cognition. Acts upstream of or within cellular response to calcium ion. Located in cornified envelope and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Restricted expression toward skin (RPKM 30.0) See more
Orthologs
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Genomic context

See LCE1D in Genome Data Viewer
Location:
1q21.3
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (152796721..152798181)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (151933270..151934730)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (152769197..152770657)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene late cornified envelope 1F Neighboring gene late cornified envelope 1E Neighboring gene late cornified envelope 1C Neighboring gene late cornified envelope 1B

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
acts_upstream_of_or_within cellular response to calcium ion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cognition IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in keratinization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cornified envelope IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
late cornified envelope protein 1D
Names
late envelope protein 4

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_178352.3NP_848129.1  late cornified envelope protein 1D

    See identical proteins and their annotated locations for NP_848129.1

    Status: VALIDATED

    Source sequence(s)
    AL353779, BG697954
    Consensus CDS
    CCDS1025.1
    UniProtKB/Swiss-Prot
    Q5T752
    Related
    ENSP00000316737.6, ENST00000326233.7

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    152796721..152798181
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    151933270..151934730
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)