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Aliases for STAB1 Gene

Aliases for STAB1 Gene

  • Stabilin 1 2 3 5
  • MS-1 Antigen 2 3 4
  • Fasciclin Egf-Like, Laminin-Type Egf-Like, And Link Domain-Containing Scavenger Receptor-1 2 3
  • Fasciclin, EGF-Like, Laminin-Type EGF-Like And Link Domain-Containing Scavenger Receptor 1 3 4
  • Common Lymphatic Endothelial And Vascular Endothelial Receptor-1 2 3
  • FEEL-1 3 4
  • Stabilin-1 3
  • CLEVER-1 3
  • KIAA0246 4
  • FELE-1 3
  • SCARH2 3
  • STAB-1 3
  • FEEL1 4
  • FEX1 3

External Ids for STAB1 Gene

Previous GeneCards Identifiers for STAB1 Gene

  • GC03P051621
  • GC03P051781
  • GC03P052385
  • GC03P052487
  • GC03P052504

Summaries for STAB1 Gene

Entrez Gene Summary for STAB1 Gene

  • This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 16 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. [provided by RefSeq, Jul 2008]

GeneCards Summary for STAB1 Gene

STAB1 (Stabilin 1) is a Protein Coding gene. Diseases associated with STAB1 include Rosai-Dorfman Disease. Among its related pathways are Vesicle-mediated transport and Binding and Uptake of Ligands by Scavenger Receptors. GO annotations related to this gene include calcium ion binding and protein disulfide oxidoreductase activity. An important paralog of this gene is STAB2.

UniProtKB/Swiss-Prot for STAB1 Gene

  • Acts as a scavenger receptor for acetylated low density lipoprotein. Binds to both Gram-positive and Gram-negative bacteria and may play a role in defense against bacterial infection. When inhibited in endothelial tube formation assays, there is a marked decrease in cell-cell interactions, suggesting a role in angiogenesis. Involved in the delivery of newly synthesized CHID1/SI-CLP from the biosynthetic compartment to the endosomal/lysosomal system.

Gene Wiki entry for STAB1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STAB1 Gene

Genomics for STAB1 Gene

Regulatory Elements for STAB1 Gene

Enhancers for STAB1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G052528 1.6 Ensembl ENCODE dbSUPER 17.7 +38.3 38315 9.6 HDGF PKNOX1 MLX ARNT CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 NT5DC2 PBRM1 STAB1 ITIH4 ITIH1 GNL3 NEK4 RPL29 SMIM4 PIR41495
GH03G052466 1.2 VISTA FANTOM5 dbSUPER 12 -27.2 -27158 3.0 ZNF740 MNT ZNF623 ZIC2 NR2F2 ZNF121 SMARCA4 POLR2A ZNF652 PRDM1 NT5DC2 SEMA3G STAB1 SMIM4 RNU6-856P RNU6ATAC16P PBRM1 GNL3 ENSG00000222345 ENSG00000252787
GH03G052538 0.7 ENCODE dbSUPER 12.5 +43.6 43562 0.2 TAL1 IKZF1 PBRM1 STAB1 NT5DC2 RNU6-856P
GH03G052540 0.7 ENCODE dbSUPER 12.5 +43.7 43722 0.2 IKZF1 SPI1 NT5DC2 STAB1 GNL3 RNU6-856P
GH03G052470 0.7 dbSUPER 12.1 -23.5 -23504 2.9 ZNF263 CTCF SAP130 ARID4B MAX MNT ZIC2 RAD21 GABPA YY1 NT5DC2 PPM1M STAB1 SEMA3G SMIM4 RNU6-856P RNU6ATAC16P GNL3 SNORD19B SNORD19
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around STAB1 on UCSC Golden Path with GeneCards custom track

Promoters for STAB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000152565 162 201 ZGPAT GATA2 POLR2A AGO1 MAX FOS HNRNPL KDM6A NR2F2

Genomic Location for STAB1 Gene

Chromosome:
3
Start:
52,495,338 bp from pter
End:
52,524,495 bp from pter
Size:
29,158 bases
Orientation:
Plus strand

Genomic View for STAB1 Gene

Genes around STAB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STAB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STAB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STAB1 Gene

Proteins for STAB1 Gene

  • Protein details for STAB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NY15-STAB1_HUMAN
    Recommended name:
    Stabilin-1
    Protein Accession:
    Q9NY15
    Secondary Accessions:
    • A7E297
    • Q8IUH0
    • Q8IUH1
    • Q93072

    Protein attributes for STAB1 Gene

    Size:
    2570 amino acids
    Molecular mass:
    275482 Da
    Quaternary structure:
    • Interacts with CHID1.
    SequenceCaution:
    • Sequence=BAA13377.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for STAB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STAB1 Gene

Post-translational modifications for STAB1 Gene

  • Glycosylation at posLast=133133, isoforms=2286, isoforms=2312, Asn413, Asn606, Asn673, Asn712, posLast=745745, Asn816, Asn1087, isoforms=1096, posLast=11701170, isoforms=1178, Asn1222, posLast=12741274, Asn1378, posLast=14711471, Asn1626, isoforms=1727, Asn2107, Asn2222, isoforms=2261, Asn2290, isoforms=2334, Asn2347, Asn2379, Asn2393, isoforms=2400, and posLast=24242424
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for STAB1 Gene

Domains & Families for STAB1 Gene

Gene Families for STAB1 Gene

Suggested Antigen Peptide Sequences for STAB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with STAB1: view

No data available for UniProtKB/Swiss-Prot for STAB1 Gene

Function for STAB1 Gene

Molecular function for STAB1 Gene

UniProtKB/Swiss-Prot Function:
Acts as a scavenger receptor for acetylated low density lipoprotein. Binds to both Gram-positive and Gram-negative bacteria and may play a role in defense against bacterial infection. When inhibited in endothelial tube formation assays, there is a marked decrease in cell-cell interactions, suggesting a role in angiogenesis. Involved in the delivery of newly synthesized CHID1/SI-CLP from the biosynthetic compartment to the endosomal/lysosomal system.

Gene Ontology (GO) - Molecular Function for STAB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005041 low-density lipoprotein receptor activity IDA 12077138
GO:0005044 scavenger receptor activity IDA 12077138
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 16357325
GO:0005540 hyaluronic acid binding IEA --
genes like me logo Genes that share ontologies with STAB1: view
genes like me logo Genes that share phenotypes with STAB1: view

Animal Models for STAB1 Gene

MGI Knock Outs for STAB1:

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for STAB1 Gene

Localization for STAB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for STAB1 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for STAB1 gene
Compartment Confidence
plasma membrane 5
extracellular 2
golgi apparatus 2
endosome 2
peroxisome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for STAB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 12077138
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030666 endocytic vesicle membrane TAS --
genes like me logo Genes that share ontologies with STAB1: view

Pathways & Interactions for STAB1 Gene

genes like me logo Genes that share pathways with STAB1: view

Pathways by source for STAB1 Gene

Gene Ontology (GO) - Biological Process for STAB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006898 receptor-mediated endocytosis TAS 12077138
GO:0006954 inflammatory response IEA --
GO:0007155 cell adhesion NAS 12077138
GO:0007267 cell-cell signaling IDA 12077138
GO:0016525 negative regulation of angiogenesis IMP 12077138
genes like me logo Genes that share ontologies with STAB1: view

No data available for SIGNOR curated interactions for STAB1 Gene

Drugs & Compounds for STAB1 Gene

(1) Drugs for STAB1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hyaluronic acid Approved, Vet_approved Pharma 469
genes like me logo Genes that share compounds with STAB1: view

Transcripts for STAB1 Gene

Unigene Clusters for STAB1 Gene

Stabilin 1:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for STAB1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22 ^
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

ExUns: 23 ^ 24 ^ 25a · 25b · 25c ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35a · 35b ^ 36 ^ 37 ^ 38a · 38b ^ 39a · 39b ^ 40a · 40b ^ 41a · 41b ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

ExUns: 42 ^ 43 ^ 44
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for STAB1 Gene

GeneLoc Exon Structure for
STAB1
ECgene alternative splicing isoforms for
STAB1

Expression for STAB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for STAB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for STAB1 Gene

This gene is overexpressed in Spleen (x7.1).

Protein differential expression in normal tissues from HIPED for STAB1 Gene

This gene is overexpressed in Monocytes (9.3) and Stomach (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for STAB1 Gene



Protein tissue co-expression partners for STAB1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of STAB1 Gene:

STAB1

SOURCE GeneReport for Unigene cluster for STAB1 Gene:

Hs.301989

mRNA Expression by UniProt/SwissProt for STAB1 Gene:

Q9NY15-STAB1_HUMAN
Tissue specificity: High levels found in spleen, lymph node, liver and placenta. Also expressed in endothelial cells.

Evidence on tissue expression from TISSUES for STAB1 Gene

  • Liver(4.5)
  • Nervous system(2.7)
  • Spleen(2.5)
  • Heart(2.3)
  • Blood(2.2)
genes like me logo Genes that share expression patterns with STAB1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for STAB1 Gene

Orthologs for STAB1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for STAB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia STAB1 34 35
  • 99.29 (n)
dog
(Canis familiaris)
Mammalia STAB1 34 35
  • 86.01 (n)
cow
(Bos Taurus)
Mammalia STAB1 34 35
  • 85.33 (n)
mouse
(Mus musculus)
Mammalia Stab1 34 16 35
  • 81.84 (n)
rat
(Rattus norvegicus)
Mammalia Stab1 34
  • 81.74 (n)
oppossum
(Monodelphis domestica)
Mammalia STAB1 35
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia STAB1 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves STAB1 34 35
  • 58.69 (n)
lizard
(Anolis carolinensis)
Reptilia STAB1 35
  • 49 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii stab1 34 35
  • 49.99 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 30 (a)
OneToMany
Species where no ortholog for STAB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for STAB1 Gene

ENSEMBL:
Gene Tree for STAB1 (if available)
TreeFam:
Gene Tree for STAB1 (if available)

Paralogs for STAB1 Gene

Paralogs for STAB1 Gene

(1) SIMAP similar genes for STAB1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with STAB1: view

Variants for STAB1 Gene

Sequence variations from dbSNP and Humsavar for STAB1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000035091 -- 52,498,629(+) GAGTG(C/G)GACCA intron-variant
rs1000610084 -- 52,500,547(+) AGCAA(C/T)GTGGG intron-variant
rs1000698102 -- 52,514,910(+) GAGGG(G/T)CGCAT intron-variant
rs1000973912 -- 52,496,347(+) CTGAG(C/T)GTGTC intron-variant
rs1001008385 -- 52,496,663(+) CCTCC(C/T)CTTAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for STAB1 Gene

Variant ID Type Subtype PubMed ID
dgv8326n54 CNV loss 21841781
esv2725277 CNV deletion 23290073
esv3561884 CNV deletion 23714750
nsv3820 CNV insertion 18451855
nsv590306 CNV loss 21841781
nsv834697 CNV loss 17160897
nsv954862 CNV deletion 24416366

Variation tolerance for STAB1 Gene

Residual Variation Intolerance Score: 20% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.41; 90.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for STAB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
STAB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STAB1 Gene

Disorders for STAB1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for STAB1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
rosai-dorfman disease
  • histiocytosis with joint contractures and sensorineural deafness
- elite association - COSMIC cancer census association via MalaCards
Search STAB1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for STAB1

Genetic Association Database (GAD)
STAB1
Human Genome Epidemiology (HuGE) Navigator
STAB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
STAB1
genes like me logo Genes that share disorders with STAB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for STAB1 Gene

Publications for STAB1 Gene

  1. Stabilin-1 and -2 constitute a novel family of fasciclin-like hyaluronan receptor homologues. (PMID: 11829752) Politz O. … Goerdt S. (Biochem. J. 2002) 2 3 4 22 64
  2. Novel stabilin-1 interacting chitinase-like protein (SI-CLP) is up- regulated in alternatively activated macrophages and secreted via lysosomal pathway. (PMID: 16357325) Kzhyshkowska J. … Goerdt S. (Blood 2006) 3 4 22 64
  3. FEEL-1, a novel scavenger receptor with in vitro bacteria-binding and angiogenesis-modulating activities. (PMID: 12077138) Adachi H. … Tsujimoto M. (J. Biol. Chem. 2002) 2 3 4 64
  4. Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population. (PMID: 19367581) So H.C. … Sham P.C. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 46 64
  5. Cross-talk between endocytic clearance and secretion in macrophages. (PMID: 19457577) Kzhyshkowska J. … Krusell L. (Immunobiology 2009) 3 22 64

Products for STAB1 Gene

Sources for STAB1 Gene

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