SLURP1 secreted LY6/PLAUR domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLURP1provided by HGNC
Official Full Name: secreted LY6/PLAUR domain containing 1provided by HGNC
Primary source: HGNC:HGNC:18746
See related: Ensembl:ENSG00000126233 MIM:606119; Vega:OTTHUMG00000164685
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ARS; MDM; ANUP; ArsB; LY6LS
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 autosomal recessive skin disorder. This gene maps to the same chromosomal region as several members of the Ly6/uPAR family of glycoprotein receptors. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward esophagus (RPKM 167.7) See more
Orthologs: mouse all

Genomic context

Location:: 8q24.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
109	current	GRCh38.p12 (GCF_000001405.38)	8	NC_000008.11 (142740944..142742411, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (143822362..143823829, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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 Jun 15 11:32:44 2016

Bibliography

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

This is the first mal de Meleda case of Javanese ethnicity to be documented, and the unique mutation has not previously been reported.
Title: Identification of novel homozygous SLURP1 mutation in a Javanese family with Mal de Meleda.
We identified a mutation in SLURP1 in five members of a consanguineous family in Pakistan, who had Mal de Meleda.
Title: A novel homozygous mutation disrupting the initiation codon in the SLURP1 gene underlies mal de Meleda in a consanguineous family.
novel splice site mutation c.58+5G>T in mal de Meleda in India
Title: A novel mutation in SLURP1 in patients with mal de Meleda from the Indian subcontinent.
Results of this study suggest understand Mal de Meleda, it will be important to identify proteins that interact with mutatated SLURP1. In any such studies, it will be important to assess binding of mutant SLURP1 proteins that cause Mal de Meleda.
Title: Heterogeneity in the properties of mutant secreted lymphocyte antigen 6/urokinase receptor-related protein 1 (SLURP1) in Mal de Meleda.
To our knowledge, the present study is the fi rst report on molecular investigation of Mal de Meleda from Libya.
Title: The first Mal de Meleda case in Libya: identification of a SLURP1 mutation.
This supports the hypothesis that the antiproliferative activity of SLURP-1 is related to 'metabotropic' signaling pathway through alpha7-nAChR, that activates intracellular signaling cascades without opening the receptor channel.
Title: Human Secreted Ly-6/uPAR Related Protein-1 (SLURP-1) Is a Selective Allosteric Antagonist of α7 Nicotinic Acetylcholine Receptor.
SLURP1 participates in pathophysiology of psoriasis by regulating keratinocyte proliferation and differentiation, and by suppressing the growth of S. aureus
Title: IL-22/STAT3-Induced Increases in SLURP1 Expression within Psoriatic Lesions Exerts Antimicrobial Effects against Staphylococcus aureus.
Palmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of Mal de Meleda.
Title: Palmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of Mal de Meleda.
rSLURP-1 decreased production of TNFalpha by T-cells, downregulated IL-1 beta and IL-6 secretion by macrophages, and moderately upregulated IL-10 production by both types of immunocytes
Title: Anti-inflammatory effects of the nicotinergic peptides SLURP-1 and SLURP-2 on human intestinal epithelial cells and immunocytes.
This report further expands the spectrum of clinical phenotypes associated with mutations in SLURP1 in the Mediterranean population.
Title: Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean region.

Submit: New GeneRIF Correction See all GeneRIFs (28)

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

Associated conditions

Description	Tests
Acroerythrokeratoderma MedGen: C0025221 OMIM: 248300 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

NoName (e-PCR)
- UniSTS:483339

RH70955 (e-PCR)
- UniSTS:15304

D8S1751 (e-PCR)
- UniSTS:15062

NoName (e-PCR)
- UniSTS:480733

Homology

Homologs of the SLURP1 gene: The SLURP1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, and rat.
Orthologs from Annotation Pipeline: 74 organisms have orthologs with human gene SLURP1
The Hierarchical Catalog of Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
acetylcholine receptor activator activity	IDA Inferred from Direct Assay more info	PubMed
cytokine activity	NAS Non-traceable Author Statement more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
cell activation	NAS Non-traceable Author Statement more info	PubMed
cell adhesion	TAS Traceable Author Statement more info	PubMed
locomotory behavior	IEA Inferred from Electronic Annotation more info
negative regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
negative regulation of cell proliferation	IDA Inferred from Direct Assay more info	PubMed
negative regulation of keratinocyte proliferation	IEA Inferred from Electronic Annotation more info
neuromuscular process controlling posture	IEA Inferred from Electronic Annotation more info
positive regulation of signaling receptor activity	IEA Inferred from Electronic Annotation more info
urokinase plasminogen activator signaling pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
extracellular exosome	HDA more info	PubMed
extracellular region	NAS Non-traceable Author Statement more info	PubMed
extracellular space	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: secreted Ly-6/uPAR-related protein 1

Names: ARS(component B)-81/S; SLURP-1; anti-neoplastic urinary protein; lymphocyte antigen 6-like secreted; secreted Ly6/uPAR related protein 1

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.

Genomic

NG_011494.1 RefSeqGene

Range

5001..6468

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_020427.2 → NP_065160.1 secreted Ly-6/uPAR-related protein 1 precursor

See identical proteins and their annotated locations for NP_065160.1

Status: REVIEWED

Source sequence(s)

X99977

Consensus CDS

CCDS6387.1

UniProtKB/Swiss-Prot

P55000

Related

ENSP00000246515.1, OTTHUMP00000227216, ENST00000246515.1, OTTHUMT00000379741

Conserved Domains (1) summary

cd00117
Location:23 → 101

LU; Ly-6 antigen / uPA receptor -like domain; occurs singly in GPI-linked cell-surface glycoproteins (Ly-6 family,CD59, thymocyte B cell antigen, Sgp-2) or as three-fold repeated domain in urokinase-type plasminogen activator receptor. Topology of these ...