KPLCE KPRP N-terminal and LCE C-terminal like protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: KPLCEprovided by HGNC
Official Full Name: KPRP N-terminal and LCE C-terminal like proteinprovided by HGNC
Primary source: HGNC:HGNC:29468
See related: Ensembl:ENSG00000198854 AllianceGenome:HGNC:29468
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: LEP7; XP32; C1orf68
Orthologs: mouse all
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Genomic context

Location:: 1q21.3

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (152719522..152720470)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (151856064..151857012)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (152691998..152692946)

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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SNPs in C1orf68 are associated with increased risk of candidemia.
Title: Immunochip SNP array identifies novel genetic variants conferring susceptibility to candidaemia.
Observational study of gene-disease association. (HuGE Navigator)
Title: Replication of previous genome-wide association studies of bone mineral density in premenopausal American women.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in epidermis development	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: protein KPLCE

Names: skin-specific protein (xp32); skin-specific protein 32

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.