VSTM1 (V-set and transmembrane domain containing 1)

Gene

• Entrez ID: 284415
• Gene name: V-set and transmembrane domain containing 1
• Gene symbol: VSTM1
• Synonyms (NCBI Gene): SIRL-1, SIRL1, UNQ3033
• Chromosome: 19
• Chromosome location: 19q13.42

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002376	Process	Immune system process	IEA
GO:0002764	Process	Immune response-regulating signaling pathway	IBA
GO:0005125	Function	Cytokine activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0016020	Component	Membrane	IEA

Other IDs

• MIM: 616804
• HGNC: 29455
• e!Ensembl: ENSG00000189068

Protein

• UniProt ID: Q6UX27
• Protein name: V-set and transmembrane domain-containing protein 1 (Signal inhibitory receptor on leukocytes-1) (SIRL-1)
• Protein function: [Isoform 2]: Behaves as a cytokine, promoting IL17A secretion by CD4+ T-cells, and differentiation and activation of IL17 producing helper T-cells (TH17).; [Isoform 1]: Inhibitory immune receptor involved in the regulation of phagocyte
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13895	Ig_2	28 → 117	Immunoglobulin domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed on myeloid (neutrophils, eosinophils and monocytes) but not on lymphoid cells. {ECO:0000269|PubMed:20375307}.
• Sequence:

  MTAEFLSLLCLGLCLGYEDEKKNEKPPKPSLHAWPSSVVEAESNVTLKCQAHSQNVTFVL
  RKVNDSGYKQEQSSAENEAEFPFTDLKPKDAGRYFCAYKTTASHEWSESSEHLQLVVTDK
  HDELEAPSMKTDTRTIFVAIFSCISILLLFLSVFIIYRCSQHSSSSEESTKRTSHSKLPE
  QEAAEADLSNMERVSLSTADPQGVTYAELSTSALSEAASDTTQEPPGSHEYAALKV

• Sequence length: 236

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	25267259	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	26760041	Stimulate	★☆☆☆☆ Found in Text Mining only
Bronchiolitis	Bronchiolitis	Pubtator	36637221	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	34565102	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	34565102	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	28219444	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	28219444		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	28219444		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	25351446		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	28219444		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	25887911	Inhibit	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	27472927		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	25887911	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	33536020	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	25267259, 26760041		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	28219444	Associate	★☆☆☆☆ Found in Text Mining only