SLURP1 (secreted LY6/PLAUR domain containing 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 57152
Gene name Secreted LY6/PLAUR domain containing 1
Gene symbol SLURP1
Synonyms (NCBI Gene)
ANUPARSArsBLY6-MTLY6LSMDM
Chromosome 8
Chromosome location 8q24.3
Summary The protein encoded by this gene is a member of the Ly6/uPAR family but lacks a GPI-anchoring signal sequence. It is thought that this secreted protein contains antitumor activity. Mutations in this gene have been associated with Mal de Meleda, a rare aut
SNPs SNP information provided by dbSNP.
11
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (11)
SNP ID Visualize variation Clinical significance Consequence
rs28937888 C>G,T Pathogenic Coding sequence variant, missense variant
rs28937889 T>G Pathogenic Initiator codon variant, missense variant
rs62636565 A>G Conflicting-interpretations-of-pathogenicity Terminator codon variant, stop lost
rs121908317 G>A,C Pathogenic Missense variant, stop gained, coding sequence variant
rs121908318 A>G Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
13
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (13)
miRTarBase ID miRNA Experiments Reference
MIRT2109929 hsa-miR-1227 CLIP-seq
MIRT2109930 hsa-miR-15a CLIP-seq
MIRT2109931 hsa-miR-15b CLIP-seq
MIRT2109932 hsa-miR-16 CLIP-seq
MIRT2109933 hsa-miR-1909 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (20)
GO ID Ontology Definition Evidence Reference
GO:0001775 Process Cell activation NAS 11285253
GO:0005125 Function Cytokine activity IEA
GO:0005125 Function Cytokine activity NAS 8742060
GO:0005515 Function Protein binding IPI 25168896, 26905431, 33961781
GO:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606119 18746 ENSG00000126233
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P55000
Protein name Secreted Ly-6/uPAR-related protein 1 (SLURP-1) (ARS component B) (ARS(component B)-81/S) (Anti-neoplastic urinary protein) (ANUP)
Protein function Has an antitumor activity (PubMed:8742060). Was found to be a marker of late differentiation of the skin. Implicated in maintaining the physiological and structural integrity of the keratinocyte layers of the skin (PubMed:14721776, PubMed:170088
PDB 6ZZE , 6ZZF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00021 UPAR_LY6 25 → 100 u-PAR/Ly-6 domain Domain
Tissue specificity TISSUE SPECIFICITY: Granulocytes. Expressed in skin. Predominantly expressed in the granular layer of skin, notably the acrosyringium. Identified in several biological fluids such as sweat, saliva, tears, plasma and urine. {ECO:0000269|PubMed:14721776, EC
Sequence
Sequence length 103
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Neuroactive ligand-receptor interaction  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Acroerythrokeratoderma Pathogenic; Likely pathogenic rs587776601, rs587776602, rs121908317, rs28937888, rs28937889, rs121908318, rs121908319, rs121908320, rs1324633355, rs2488555660 RCV000004862
RCV000004863
RCV000004864
RCV000004865
RCV000004866
View all (6 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (3)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
MAL DE MELEDA — GenCC, HPO, Orphanet
GenCC, HPO, Orphanet
GenCC, HPO, Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MELEDA DISEASE — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SLURP1-related disorder Uncertain significance; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (90)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28927521
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult type dermatomyositis Dermatomyositis BEFREE 25903820, 31779485
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 20206286
★★★★★
★☆☆☆☆
Found in Text Mining only
Aniridia Aniridia BEFREE 27929720
★★★★★
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 29545933
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 14719189
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 20621062
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 27612429
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 28927521
★★★★★
★☆☆☆☆
Found in Text Mining only
Brachydactyly Brachydactyly HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only