KPRP keratinocyte proline rich protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: KPRPprovided by HGNC
Official Full Name: keratinocyte proline rich proteinprovided by HGNC
Primary source: HGNC:HGNC:31823
See related: Ensembl:ENSG00000203786 MIM:613260; AllianceGenome:HGNC:31823
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
Also known as: C1orf45
Summary: This gene encodes a proline-rich skin protein possibly involved in keratinocyte differentiation. [provided by RefSeq, Jul 2016]
Expression: Restricted expression toward skin (RPKM 105.2) See more
Orthologs: mouse all
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Genomic context

Location:: 1q21.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (152758025..152762056)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (151894570..151898601)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (152730501..152734532)

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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

By allelic copy number analysis at missense single-nucleotide polymorphisms on 26 genes with copy number variation, study identified a significant association between atopic dermatitis and human KPRP. Human KPRP expression, which was localized to the upper granular layer of epidermis, was significantly decreased in atopic dermatitis compared with normal skin.
Title: Keratinocyte Proline-Rich Protein Deficiency in Atopic Dermatitis Leads to Barrier Disruption.
A human gene encoding keratinocyte proline-rich protein (hKPRP), an epidermal marker expressed in stratified squamous epithelia, has a potential role in keratinocytes differentiation.
Title: Molecular cloning and expression of human keratinocyte proline-rich protein (hKPRP), an epidermal marker isolated from calcium-induced differentiating keratinocytes.

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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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Markers

SHGC-146825 (e-PCR)
- UniSTS:175455

SHGC-149163 (e-PCR)
- UniSTS:176838

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
acts_upstream_of_or_within desmosome organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within epidermis development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within establishment of skin barrier	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within inflammatory response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within skin development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed

General protein information

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Preferred Names: keratinocyte proline-rich protein

Names: keratinocyte expressed, proline-rich protein

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.