SPRR3 small proline rich protein 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPRR3provided by HGNC
Official Full Name: small proline rich protein 3provided by HGNC
Primary source: HGNC:HGNC:11268
See related: Ensembl:ENSG00000163209 MIM:182271; AllianceGenome:HGNC:11268
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
Summary: Predicted to enable structural molecule activity. Predicted to be involved in wound healing. Located in Golgi apparatus and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward esophagus (RPKM 6973.3) See more
Orthologs: all
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Genomic context

Location:: 1q21.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (153001749..153003856)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (152138366..152140508)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (152974225..152976332)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

SPRR3 Contributes to Aggressiveness of Pancreatic Cancer Cells via NF-kappaB Signaling Pathway.
Title: SPRR3 Contributes to Aggressiveness of Pancreatic Cancer Cells via NF-κB Signaling Pathway.
Small Proline-Rich Protein 3 Regulates IL-33/ILC2 Axis to Promote Allergic Airway Inflammation.
Title: Small Proline-Rich Protein 3 Regulates IL-33/ILC2 Axis to Promote Allergic Airway Inflammation.
Fine particulate matter (PM2.5) inhibits ciliogenesis by increasing SPRR3 expression via c-Jun activation in RPE cells and skin keratinocytes.
Title: Fine particulate matter (PM2.5) inhibits ciliogenesis by increasing SPRR3 expression via c-Jun activation in RPE cells and skin keratinocytes.
SPRR3v2 mRNA level in non-lesional AD skin correlated with severity of AD, and SPRR3 protein level in non-lesional AD skin correlated inversely with pruritus.
Title: Expression of Cornified Envelope Proteins in Skin and Its Relationship with Atopic Dermatitis Phenotype.
Results implicate that SPRR3 might serve as a radiation-sensitive predictor of ESCC.
Title: Small proline-rich repeat protein 3 enhances the sensitivity of esophageal cancer cells in response to DNA damage-induced apoptosis.
This study demonstrates that SPRR3 promotes BC cell proliferation by enhancing p53 degradation via the AKT and MAPK pathways
Title: Expression of SPRR3 is associated with tumor cell proliferation in less advanced stages of breast cancer.
The quantitative analysis of SPRR3 mRNA is a robust and reliable method to monitor the malignant transformation of the healthy esophageal mucosa into esophageal squamous cell carcinoma.
Title: Quantitative evaluation of SPRR3 expression in esophageal squamous cell carcinoma by qPCR and its potential use as a biomarker.
The SPRR3 variant associated with eczema carried an extra 24-bp repeat in the central domain, which may alter the physical properties of the cornified cell envelope
Title: Association screening in the Epidermal Differentiation Complex (EDC) identifies an SPRR3 repeat number variant as a risk factor for eczema.
Results suggest that increased expression of SPRR3 is involved in colorectal tumorigenesis.
Title: Upregulation of SPRR3 promotes colorectal tumorigenesis.
two isoforms of SPRR3 were characterized from saliva of preterm human newborn and autoptic fetal oral mucosa, parotid and submandibular gland samples.
Title: Characterization of two isoforms of human SPRR3 from saliva of preterm human newborn and autoptic fetal oral mucosa, parotid and submandibular gland samples.

Submit: New GeneRIF Correction See all GeneRIFs (16)

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

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural molecule activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in epidermis development	NAS Non-traceable Author Statement more info	PubMed
involved_in keratinization	IEA Inferred from Electronic Annotation more info
involved_in keratinocyte differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in wound healing	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in cornified envelope	TAS Traceable Author Statement more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: small proline-rich protein 3

Names: 22 kDa pancornulin; cornifin beta; esophagin

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)

NM_001097589.2 → NP_001091058.1 small proline-rich protein 3

See identical proteins and their annotated locations for NP_001091058.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AL356867, BM955458, DA763011

Consensus CDS

CCDS1033.1

UniProtKB/Swiss-Prot

A5YKK8, B2R4G8, D3DV32, O75597, Q4ZGI7, Q5T525, Q8NET7, Q9UBC9, Q9UDG3

Related

ENSP00000295367.4, ENST00000295367.5

Conserved Domains (1) summary

pfam02389
Location:38 → 167

Cornifin; Cornifin (SPRR) family
NM_005416.3 → NP_005407.1 small proline-rich protein 3

See identical proteins and their annotated locations for NP_005407.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AL356867, BF826427, BM955458, DA451130

Consensus CDS

CCDS1033.1

UniProtKB/Swiss-Prot

A5YKK8, B2R4G8, D3DV32, O75597, Q4ZGI7, Q5T525, Q8NET7, Q9UBC9, Q9UDG3

Related

ENSP00000330391.3, ENST00000331860.7

Conserved Domains (1) summary

pfam02389
Location:38 → 167

Cornifin; Cornifin (SPRR) family