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

    Gene ID: 6707, updated on 13-Nov-2024

    Summary

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    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, Nov 2024]
    Expression
    Restricted expression toward esophagus (RPKM 6973.3) See more
    Orthologs
    all
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    Genomic context

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    See SPRR3 in Genome Data Viewer
    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 (153001749..153003856)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (152138366..152140508)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (152974225..152976332)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene small proline rich protein 4 Neighboring gene small proline rich protein 1A Neighboring gene uncharacterized LOC105371446 Neighboring gene small nucleolar RNA SNORA31 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:152995252-152996451 Neighboring gene small proline rich protein 1B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Predictive role and molecular biological function of proline-rich small repeat protein SPRR3 in the diagnosis of lung adenocarcinoma. Liao S, et al. Int J Biol Macromol, 2024 Oct. PMID 39134193
    2. SPRR3 Contributes to Aggressiveness of Pancreatic Cancer Cells via NF-κB Signaling Pathway. Xie Y, et al. Biomed Res Int, 2023. PMID 36685674, Free PMC Article
    3. Esophagin cDNA cloning and characterization: a tissue-specific member of the small proline-rich protein family that is not expressed in esophageal tumors. Abraham JM, et al. Cell Growth Differ, 1996 Jul. PMID 8809402
    4. Fine particulate matter (PM2.5) inhibits ciliogenesis by increasing SPRR3 expression via c-Jun activation in RPE cells and skin keratinocytes. Bae JE, et al. Sci Rep, 2019 Mar 8. PMID 30850686, Free PMC Article
    5. Upregulation of SPRR3 promotes colorectal tumorigenesis. Cho DH, et al. Mol Med, 2010 Jul-Aug. PMID 20379613, Free PMC Article

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Predictive role and molecular biological function of proline-rich small repeat protein SPRR3 in the diagnosis of lung adenocarcinoma.
      Title: Predictive role and molecular biological function of proline-rich small repeat protein SPRR3 in the diagnosis of lung adenocarcinoma.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. Results suggest that increased expression of SPRR3 is involved in colorectal tumorigenesis.
      Title: Upregulation of SPRR3 promotes colorectal tumorigenesis.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Phenotypes

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    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

    Homology

    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 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)

    1. 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

    2. 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

    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
      153001749..153003856
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      152138366..152140508
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443702.1 → XP_047299658.1  small proline-rich protein 3 isoform X1

    2. XM_047443703.1 → XP_047299659.1  small proline-rich protein 3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UBC9.2 GenPept UniProtKB/Swiss-Prot:Q9UBC9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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