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

Gene ID: 6698, updated on 2-Nov-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, Nov 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 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)

Genotypes

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.

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