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    SPRR1A small proline rich protein 1A [ Homo sapiens (human) ]

    Gene ID: 6698, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SPRR1Aprovided by HGNC
    Official Full Name
    small proline rich protein 1Aprovided by HGNC
    Primary source
    HGNC:HGNC:11259
    See related
    Ensembl:ENSG00000169474 MIM:182265; AllianceGenome:HGNC:11259
    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
    SPRK
    Summary
    A structural constituent of skin epidermis. Involved in keratinocyte differentiation and peptide cross-linking. Located in cornified envelope. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward esophagus (RPKM 829.4) See more
    Orthologs
    all
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    Genomic context

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    See SPRR1A in Genome Data Viewer
    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 (152984081..152985814)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (152120747..152122480)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (152956557..152958290)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1527 Neighboring gene small proline rich protein 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1739 Neighboring gene small proline rich protein 4 Neighboring gene uncharacterized LOC105371446 Neighboring gene small proline rich protein 3 Neighboring gene small nucleolar RNA SNORA31

    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
    • 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. Clinical implications of SPRR1A expression in diffuse large B-cell lymphomas: a prospective, observational study. Zhang H, et al. BMC Cancer, 2014 May 14. PMID 24886019, Free PMC Article
    2. Differential expression of human cornifin alpha and beta in squamous differentiating epithelial tissues and several skin lesions. Fujimoto W, et al. J Invest Dermatol, 1997 Feb. PMID 9008234
    3. Small proline-rich protein 1A promotes lung adenocarcinoma progression and indicates unfavorable clinical outcomes. Wang S, et al. Biochem Cell Biol, 2022 Jun 1. PMID 35263193
    4. Clinical significance of SPRR1A expression in progesterone receptor-positive breast cancer. Chen G, et al. Tumour Biol, 2015 Apr. PMID 25424702
    5. Locus 1q21 Gene expression changes in atopic dermatitis skin lesions: deregulation of small proline-rich region 1A. Jarzab J, et al. Int Arch Allergy Immunol, 2010. PMID 19672094

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SPRR1A is a key downstream effector of MiR-150 during both maladaptive cardiac remodeling in mice and human cardiac fibroblast activation.
      Title: SPRR1A is a key downstream effector of MiR-150 during both maladaptive cardiac remodeling in mice and human cardiac fibroblast activation.
    2. Small proline-rich protein 1A promotes lung adenocarcinoma progression and indicates unfavorable clinical outcomes.
      Title: Small proline-rich protein 1A promotes lung adenocarcinoma progression and indicates unfavorable clinical outcomes.
    3. Survival-related indicators ALOX12B and SPRR1A are associated with DNA damage repair and tumor microenvironment status in HPV 16-negative head and neck squamous cell carcinoma patients.
      Title: Survival-related indicators ALOX12B and SPRR1A are associated with DNA damage repair and tumor microenvironment status in HPV 16-negative head and neck squamous cell carcinoma patients.
    4. The combined use of EFS, GPX2, and SPRR1A expression could distinguish favorable from poor clinical outcome among epithelial-like head and neck carcinoma subtypes.
      Title: The combined use of EFS, GPX2, and SPRR1A expression could distinguish favorable from poor clinical outcome among epithelial-like head and neck carcinoma subtypes.
    5. mRNA levels of LELP1, SPRR1Av1, and SPRR1Av2 were significantly higher in the skin of patients with AD compared with the control group.
      Title: Expression of Cornified Envelope Proteins in Skin and Its Relationship with Atopic Dermatitis Phenotype.
    6. the SPRR1A status might play an important role in the prognosis of postmenopausal breast carcinoma patients, especially that of progesterone receptor-positive subgroups.
      Title: Clinical significance of SPRR1A expression in progesterone receptor-positive breast cancer.
    7. A expression may be useful as a prognostic factor for diffuse large B-cell lymphoma.
      Title: Clinical implications of SPRR1A expression in diffuse large B-cell lymphomas: a prospective, observational study.
    8. 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.
    9. the deregulated increase in SPRR1A expression in chronic atopic skin lesions reflects an insufficient rise in SPRR transcripts, unable to compensate for the lack of LOR and thus contributing to the persistence of chronic atopic dermatitis skin lesions.
      Title: Locus 1q21 Gene expression changes in atopic dermatitis skin lesions: deregulation of small proline-rich region 1A.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: Variation in genes of the epidermal differentiation complex in German atopic dermatitis patients.
    Submit: New GeneRIF Correction

    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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of skin epidermis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    cornifin-A
    Names
    19 kDa pancornulin
    SPR-IA
    small proline-rich protein IA

    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_001199828.2 → NP_001186757.1  cornifin-A

      See identical proteins and their annotated locations for NP_001186757.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) is the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL356867, AW204307, BC105081
      Consensus CDS
      CCDS1032.1
      UniProtKB/Swiss-Prot
      B1AN47, D3DV31, P35321, Q2M303, Q9UDG4
      UniProtKB/TrEMBL
      B7ZLF8
      Related
      ENSP00000512485.1, ENST00000696219.1
      Conserved Domains (1) summary
      pfam02389
      Location:35 → 87
      Cornifin; Cornifin (SPRR) family

    2. NM_005987.4 → NP_005978.2  cornifin-A

      See identical proteins and their annotated locations for NP_005978.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate splice site, resulting in a shorter 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL356867, AW204307, BC105083
      Consensus CDS
      CCDS1032.1
      UniProtKB/Swiss-Prot
      B1AN47, D3DV31, P35321, Q2M303, Q9UDG4
      UniProtKB/TrEMBL
      B7ZLF8
      Related
      ENSP00000357751.1, ENST00000368762.2
      Conserved Domains (1) summary
      pfam02389
      Location:35 → 87
      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
      152984081..152985814
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      152120747..152122480
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P35321.2 GenPept UniProtKB/Swiss-Prot:P35321

    Gene LinkOut

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

    Chemical Information
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