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SPRR1A (small proline rich protein 1A)

Identity

Alias_namessmall proline-rich protein 1A
Other aliasSPRK
HGNC (Hugo) SPRR1A
LocusID (NCBI) 6698
Atlas_Id 55116
Location 1q21.3  [Link to chromosome band 1q21]
Location_base_pair Starts at 152956564 and ends at 152958290 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
SPRR1A (1q21.3) / KRT23 (17q21.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SPRR1A   11259
Cards
Entrez_Gene (NCBI)SPRR1A  6698  small proline rich protein 1A
AliasesSPRK
GeneCards (Weizmann)SPRR1A
Ensembl hg19 (Hinxton)ENSG00000169474 [Gene_View]  chr1:152956564-152958290 [Contig_View]  SPRR1A [Vega]
Ensembl hg38 (Hinxton)ENSG00000169474 [Gene_View]  chr1:152956564-152958290 [Contig_View]  SPRR1A [Vega]
ICGC DataPortalENSG00000169474
TCGA cBioPortalSPRR1A
AceView (NCBI)SPRR1A
Genatlas (Paris)SPRR1A
WikiGenes6698
SOURCE (Princeton)SPRR1A
Genetics Home Reference (NIH)SPRR1A
Genomic and cartography
GoldenPath hg19 (UCSC)SPRR1A  -     chr1:152956564-152958290 +  1q21.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SPRR1A  -     1q21.3   [Description]    (hg38-Dec_2013)
EnsemblSPRR1A - 1q21.3 [CytoView hg19]  SPRR1A - 1q21.3 [CytoView hg38]
Mapping of homologs : NCBISPRR1A [Mapview hg19]  SPRR1A [Mapview hg38]
OMIM182265   
Gene and transcription
Genbank (Entrez)AW204307 BC105081 BC105083 BC111839 BC143782
RefSeq transcript (Entrez)NM_001199828 NM_005987
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_004487 NW_004929293
Consensus coding sequences : CCDS (NCBI)SPRR1A
Cluster EST : UnigeneHs.46320 [ NCBI ]
CGAP (NCI)Hs.46320
Alternative Splicing GalleryENSG00000169474
Gene ExpressionSPRR1A [ NCBI-GEO ]   SPRR1A [ EBI - ARRAY_EXPRESS ]   SPRR1A [ SEEK ]   SPRR1A [ MEM ]
Gene Expression Viewer (FireBrowse)SPRR1A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6698
GTEX Portal (Tissue expression)SPRR1A
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35321   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP35321  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP35321
Splice isoforms : SwissVarP35321
PhosPhoSitePlusP35321
Domains : Interpro (EBI)Cornifin    SPRR/LCE   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)SPRR1A
DMDM Disease mutations6698
Blocks (Seattle)SPRR1A
SuperfamilyP35321
Human Protein AtlasENSG00000169474
Peptide AtlasP35321
HPRD01647
IPIIPI00017987   IPI00914840   
Protein Interaction databases
DIP (DOE-UCLA)P35321
IntAct (EBI)P35321
FunCoupENSG00000169474
BioGRIDSPRR1A
STRING (EMBL)SPRR1A
ZODIACSPRR1A
Ontologies - Pathways
QuickGOP35321
Ontology : AmiGOcornified envelope  structural molecule activity  protein binding  cytoplasm  epidermis development  peptide cross-linking  keratinocyte differentiation  protein binding, bridging  keratinization  
Ontology : EGO-EBIcornified envelope  structural molecule activity  protein binding  cytoplasm  epidermis development  peptide cross-linking  keratinocyte differentiation  protein binding, bridging  keratinization  
NDEx NetworkSPRR1A
Atlas of Cancer Signalling NetworkSPRR1A
Wikipedia pathwaysSPRR1A
Orthology - Evolution
OrthoDB6698
GeneTree (enSembl)ENSG00000169474
Phylogenetic Trees/Animal Genes : TreeFamSPRR1A
HOVERGENP35321
HOGENOMP35321
Homologs : HomoloGeneSPRR1A
Homology/Alignments : Family Browser (UCSC)SPRR1A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPRR1A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPRR1A
dbVarSPRR1A
ClinVarSPRR1A
1000_GenomesSPRR1A 
Exome Variant ServerSPRR1A
ExAC (Exome Aggregation Consortium)SPRR1A (select the gene name)
Genetic variants : HAPMAP6698
Genomic Variants (DGV)SPRR1A [DGVbeta]
DECIPHER (Syndromes)1:152956564-152958290  ENSG00000169474
CONAN: Copy Number AnalysisSPRR1A 
Mutations
ICGC Data PortalSPRR1A 
TCGA Data PortalSPRR1A 
Broad Tumor PortalSPRR1A
OASIS PortalSPRR1A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPRR1A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSPRR1A
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SPRR1A
DgiDB (Drug Gene Interaction Database)SPRR1A
DoCM (Curated mutations)SPRR1A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPRR1A (select a term)
intoGenSPRR1A
Cancer3DSPRR1A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM182265   
Orphanet
MedgenSPRR1A
Genetic Testing Registry SPRR1A
NextProtP35321 [Medical]
TSGene6698
GENETestsSPRR1A
Huge Navigator SPRR1A [HugePedia]
snp3D : Map Gene to Disease6698
BioCentury BCIQSPRR1A
ClinGenSPRR1A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6698
Chemical/Pharm GKB GenePA36088
Clinical trialSPRR1A
Miscellaneous
canSAR (ICR)SPRR1A (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPRR1A
EVEXSPRR1A
GoPubMedSPRR1A
iHOPSPRR1A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:28:59 CET 2017

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