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 endoth... See more...

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 3 4
  • Fasciclin Egf-Like, Laminin-Type Egf-Like, And Link Domain-Containing Scavenger Receptor-1 2 3
  • Common Lymphatic Endothelial And Vascular Endothelial Receptor-1 2 3
  • Stabilin-1 3 4
  • FEEL-1 3 4
  • 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
  • GC03P052529

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 Auricular Cancer and Histiocytosis. Among its related pathways are Binding and Uptake of Ligands by Scavenger Receptors and Vesicle-mediated transport. Gene Ontology (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 Summary 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

Additional gene information for STAB1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for STAB1 Gene

Genomics for STAB1 Gene

GeneHancer (GH) Regulatory Elements for STAB1 Gene

Promoters and enhancers for STAB1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J052494 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 502.9 +1.6 1566 4.9 ZBTB26 KMT2B NR2F2 ZNF316 CTCF POLR2A SAP130 SPI1 GABPA FOS STAB1 ITIH4 NT5DC2 PPM1M NISCH NEK4 WDR82 TWF2 PBRM1 GLYCTK
GH03J052493 Enhancer 0.6 dbSUPER 500.7 -1.8 -1809 0.9 ZIC2 CEBPB POLR2G GLIS1 MAZ AGO2 RBM39 ZNF148 GLIS2 POLR2A STAB1 piR-44357 NEK4 SPCS1
GH03J052528 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 17.8 +38.9 38885 10.8 RXRA EP300 SIN3A TCF12 NRF1 MYC POLR2G USF1 SP1 PHF8 NT5DC2 SMIM4 lnc-STAB1-1 lnc-PBRM1-2 PBRM1 STAB1 ITIH4 RRP9 RPL29 ABHD14B
GH03J052466 Enhancer 1.1 VISTA FANTOM5 Ensembl dbSUPER 12 -27.2 -27157 3 POLR2A NR2F2 ATF4 SMARCA4 MNT GATA1 ZNF652 FOXA1 ZNF121 PRDM1 NT5DC2 SEMA3G STAB1 SMIM4 RNU6-856P RNU6ATAC16P PBRM1 GNL3 ENSG00000252787 SNORD19
GH03J052719 Enhancer 1 Ensembl ENCODE dbSUPER 6.1 +226.9 226912 5.1 NCOR1 FOXA2 TCF12 CEBPB TRIM28 FOXP1 GABPA REST POLR2A HNF4A PBRM1 GNL3 SNORD69 ENSG00000252787 SNORD19 SNORD19B SNORD19C ITIH1 STAB1 SFMBT1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around STAB1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for STAB1

Top Transcription factor binding sites by QIAGEN in the STAB1 gene promoter:
  • Arnt
  • C/EBPalpha
  • GR
  • GR-alpha
  • Max1
  • N-Myc
  • NF-1
  • NF-1/L
  • Nkx2-5
  • YY1

Genomic Locations for STAB1 Gene

Genomic Locations for STAB1 Gene
chr3:52,495,338-52,524,495
(GRCh38/hg38)
Size:
29,158 bases
Orientation:
Plus strand
chr3:52,529,354-52,558,511
(GRCh37/hg19)
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=Extended N-terminus.; 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 Asn133, Asn286, Asn312, Asn413, Asn606, Asn673, Asn712, Asn745, Asn816, Asn1087, Asn1096, Asn1170, Asn1178, Asn1222, Asn1274, Asn1378, Asn1471, Asn1626, Asn1727, Asn2107, Asn2222, Asn2261, Asn2290, Asn2334, Asn2347, Asn2379, Asn2393, Asn2400, and Asn2424
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • STAB1_HUMAN (681)

No data available for DME Specific Peptides for STAB1 Gene

Domains & Families for STAB1 Gene

Gene Families for STAB1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for STAB1 Gene

Suggested Antigen Peptide Sequences for STAB1 Gene

GenScript: Design optimal peptide antigens:
  • MS-1 antigen (STAB1_HUMAN)
genes like me logo Genes that share domains with STAB1: view

No data available for Graphical View of Domain Structure and 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.

Phenotypes From GWAS Catalog for STAB1 Gene

Gene Ontology (GO) - Molecular Function for STAB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005041 low-density lipoprotein particle 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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STAB1

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
nucleus 2
endosome 2
lysosome 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

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 730
genes like me logo Genes that share compounds with STAB1: view

Transcripts for STAB1 Gene

mRNA/cDNA for STAB1 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STAB1

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

Expression for STAB1 Gene

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



Protein tissue co-expression partners for STAB1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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)
  • Blood(2.3)
  • Heart(2.3)
genes like me logo Genes that share expression patterns with STAB1: view

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 31 30
  • 99.29 (n)
OneToOne
dog
(Canis familiaris)
Mammalia STAB1 31 30
  • 86.01 (n)
OneToOne
cow
(Bos Taurus)
Mammalia STAB1 31 30
  • 85.33 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Stab1 17 31 30
  • 81.84 (n)
rat
(Rattus norvegicus)
Mammalia Stab1 30
  • 81.74 (n)
oppossum
(Monodelphis domestica)
Mammalia STAB1 31
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia STAB1 31
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves STAB1 31 30
  • 58.69 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia STAB1 31
  • 49 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii stab1 31 30
  • 49.99 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for STAB1: view image

Paralogs for STAB1 Gene

Paralogs for STAB1 Gene

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

  • STAB1_HUMAN
  • H7C4W7_HUMAN
genes like me logo Genes that share paralogs with STAB1: view

Variants for STAB1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for STAB1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
708983 Likely Benign: not provided 52,516,706(+) C/T MISSENSE_VARIANT
709649 Likely Benign: not provided 52,503,549(+) G/C INTRON_VARIANT
709662 Benign: not provided 52,510,139(+) C/T INTRON_VARIANT
711366 Likely Benign: not provided 52,518,308(+) C/G INTRON_VARIANT
717270 Benign: not provided 52,522,483(+) C/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for STAB1 Gene

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)

Additional Variant Information for STAB1 Gene

Human Gene Mutation Database (HGMD)
STAB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STAB1

SNP Genotyping and Copy Number Assay Products

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

Disorders for STAB1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for STAB1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
auricular cancer
  • malignant tumor of ear
histiocytosis
  • chronic histiocytosis x
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

Additional Disease Information for STAB1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (The Biochemical journal 2002) 2 3 4 23 54
  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 23 54
  3. FEEL-1, a novel scavenger receptor with in vitro bacteria-binding and angiogenesis-modulating activities. (PMID: 12077138) Adachi H … Tsujimoto M (The Journal of biological chemistry 2002) 2 3 4 54
  4. Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population. (PMID: 19367581) So HC … Sham PC (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 41 54
  5. A novel GGA-binding site is required for intracellular sorting mediated by stabilin-1. (PMID: 19752197) Zhang J … Kzhyshkowska J (Molecular and cellular biology 2009) 3 23 54

Products for STAB1 Gene

  • Signalway ELISA kits for STAB1
  • Signalway Proteins for STAB1

Sources for STAB1 Gene