SPRR1B small proline rich protein 1B [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPRR1Bprovided by HGNC
Official Full Name: small proline rich protein 1Bprovided by HGNC
Primary source: HGNC:HGNC:11260
See related: Ensembl:ENSG00000169469 MIM:182266; AllianceGenome:HGNC:11260
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: SPRR1; GADD33; SPR-IB; CORNIFIN
Summary: The protein encoded by this gene is an envelope protein of keratinocytes. The encoded protein is crosslinked to membrane proteins by transglutaminase, forming an insoluble layer under the plasma membrane. This protein is proline-rich and contains several tandem amino acid repeats. [provided by RefSeq, Nov 2015]
Expression: Restricted expression toward esophagus (RPKM 644.6) See more
Orthologs: mouse all
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Genomic context

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 (153031203..153032900)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (152167945..152169640)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (153003679..153005376)

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: HPA RNA-seq normal tissues 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?

DGUOK-AS1 promotes cervical squamous cell carcinoma progression by suppressing miR-499a-5p that targets SPRR1B in vitro.
Title: DGUOK-AS1 promotes cervical squamous cell carcinoma progression by suppressing miR-499a-5p that targets SPRR1B in vitro.
Identification of small proline-rich protein 1B (SPRR1B) as a prognostically predictive biomarker for lung adenocarcinoma by integrative bioinformatic analysis.
Title: Identification of small proline-rich protein 1B (SPRR1B) as a prognostically predictive biomarker for lung adenocarcinoma by integrative bioinformatic analysis.
Identification of oral squamous cell carcinoma markers MUC2 and SPRR1B downstream of TANGO.
Title: Identification of oral squamous cell carcinoma markers MUC2 and SPRR1B downstream of TANGO.
Expression of SPRR1 and of SPRR2A is increased in mucosal samples from patients with chronic rhinosinusitis and appeared as a downstream result of TNF alpha modulation, which possibly resulted in epithelial barrier dysfunction.
Title: RNA sequencing and pathway analysis identify tumor necrosis factor alpha driven small proline-rich protein dysregulation in chronic rhinosinusitis.
Levels SPRR1B proteins were significantly higher in AD skin compared with the levels of these proteins in the skin of healthy subjects.
Title: Expression of Cornified Envelope Proteins in Skin and Its Relationship with Atopic Dermatitis Phenotype.
expression of SPRR1B is upregulated in oral CSCs/CICs and SPRR1B has a role in cell growth by suppression of RASSF4
Title: Small proline-rich protein-1B is overexpressed in human oral squamous cell cancer stem-like cells and is related to their growth through activation of MAP kinase signal.
Association of psoriasis to PGLYRP and SPRR genes at PSORS4 locus on 1q shows heterogeneity between Finnish, Swedish and Irish families.
Title: Association of psoriasis to PGLYRP and SPRR genes at PSORS4 locus on 1q shows heterogeneity between Finnish, Swedish and Irish families.
Observational study of gene-disease association. (HuGE Navigator)
Title: Variation in genes of the epidermal differentiation complex in German atopic dermatitis patients.
SPRR1B is a valid biomarker for the study of the molecular mechanisms of squamous metaplasia. There is a definitive link between inflammation and squamous metaplasia in autoimmune-mediated dry eye disease
Title: Small proline-rich protein 1B (SPRR1B) is a biomarker for squamous metaplasia in dry eye disease.
SPRR1B expression pattern in nonsquamous tumors; findings indicate SPRR1B likely coupled to signals responsible for withdrawal from the proliferative state; overexpression for prolonged periods may disrupt normal progression of mitosis
Title: SPRR1B overexpression enhances entry of cells into the G0 phase of the cell cycle.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

D1S2400 (e-PCR)
- UniSTS:24130

RH17671 (e-PCR)
- UniSTS:44433

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables structural molecule activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in epidermis development	TAS Traceable Author Statement more info	PubMed
involved_in keratinization	IEA Inferred from Electronic Annotation more info
involved_in keratinocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in peptide cross-linking	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cornified envelope	IDA Inferred from Direct Assay more info	PubMed
located_in cornified envelope	TAS Traceable Author Statement more info
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: cornifin-B

Names: 14.9 kDa pancornulin; small proline-rich protein IB

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.