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    STAB1 stabilin 1 [ Homo sapiens (human) ]

    Gene ID: 23166, updated on 10-Dec-2024

    Summary

    Official Symbol
    STAB1provided by HGNC
    Official Full Name
    stabilin 1provided by HGNC
    Primary source
    HGNC:HGNC:18628
    See related
    Ensembl:ENSG00000010327 MIM:608560; AllianceGenome:HGNC:18628
    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
    FEX1; HRFT; FEEL1; FEEL-1; FELE-1; SCARH2; STAB-1; CLEVER-1
    Summary
    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]
    Expression
    Broad expression in spleen (RPKM 55.7), placenta (RPKM 32.7) and 21 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See STAB1 in Genome Data Viewer
    Location:
    3p21.1
    Exon count:
    69
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (52495338..52524495)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (52528236..52557403)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52529354..52558511)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52486099-52486919 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14444 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52490599-52491274 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52505250-52505750 Neighboring gene troponin C1, slow skeletal and cardiac type Neighboring gene nischarin Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52538009-52538514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52538515-52539020 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52540387-52540986 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52540987-52541588 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52553072-52553680 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52553681-52554287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19943 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14445 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14446 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14447 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14448 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:52570940-52571473 Neighboring gene 5'-nucleotidase domain containing 2 Neighboring gene ubiquinol-cytochrome c reductase complex assembly factor 5 Neighboring gene RNA, U6 small nuclear 856, pseudogene Neighboring gene polybromo 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Isolated hyperferritinemia
    MedGen: C3854388 OMIM: 620729 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    EBI GWAS Catalog
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    EBI GWAS Catalog
    Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of stabilin 1 (STAB1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0246

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables hyaluronic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables low-density lipoprotein particle binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables low-density lipoprotein particle receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-disulfide reductase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables scavenger receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell adhesion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in cell-cell signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in defense response to bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in receptor-mediated endocytosis TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    stabilin-1
    Names
    MS-1 antigen
    common lymphatic endothelial and vascular endothelial receptor-1
    fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1
    fasciclin, EGF-like, laminin-type EGF-like and link domain-containing scavenger receptor 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_015136.3 → NP_055951.2  stabilin-1 precursor

      See identical proteins and their annotated locations for NP_055951.2

      Status: REVIEWED

      Source sequence(s)
      AB052956, AC006208, AJ275213, BE242606, BI001474
      Consensus CDS
      CCDS33768.1
      UniProtKB/Swiss-Prot
      A7E297, Q8IUH0, Q8IUH1, Q93072, Q9NY15
      UniProtKB/TrEMBL
      Q0PNF2
      Related
      ENSP00000312946.6, ENST00000321725.10
      Conserved Domains (6) summary
      smart00180
      Location:1992 → 2021
      EGF_Lam; Laminin-type epidermal growth factor-like domai
      smart00554
      Location:2367 → 2462
      FAS1; Four repeated domains in the Fasciclin I family of proteins, present in many other contexts
      pfam02469
      Location:1736 → 1866
      Fasciclin; Fasciclin domain
      pfam12947
      Location:1459 → 1495
      EGF_3; EGF domain
      cl02612
      Location:2208 → 2300
      Link_Domain; The link domain is a hyaluronan (HA)-binding domain. It functions to mediate adhesive interactions during inflammatory leukocyte homing and tumor metastasis. It is found in the CD44 receptor and in human TSG-6. TSG-6 is the protein product of the tumor ...
      cl02663
      Location:393 → 490
      Fasciclin; Fasciclin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      52495338..52524495
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005264973.4 → XP_005265030.1  stabilin-1 isoform X1

      UniProtKB/TrEMBL
      Q0PNF2
      Conserved Domains (5) summary
      smart00180
      Location:1992 → 2021
      EGF_Lam; Laminin-type epidermal growth factor-like domai
      pfam02469
      Location:1736 → 1866
      Fasciclin; Fasciclin domain
      pfam12947
      Location:1459 → 1495
      EGF_3; EGF domain
      cl02612
      Location:2208 → 2300
      Link_Domain; The link domain is a hyaluronan (HA)-binding domain. It functions to mediate adhesive interactions during inflammatory leukocyte homing and tumor metastasis. It is found in the CD44 receptor and in human TSG-6. TSG-6 is the protein product of the tumor ...
      cl02663
      Location:393 → 490
      Fasciclin; Fasciclin domain
    2. XM_005264974.2 → XP_005265031.1  stabilin-1 isoform X2

      UniProtKB/TrEMBL
      Q0PNF2
      Conserved Domains (6) summary
      smart00180
      Location:1992 → 2021
      EGF_Lam; Laminin-type epidermal growth factor-like domai
      smart00554
      Location:2367 → 2462
      FAS1; Four repeated domains in the Fasciclin I family of proteins, present in many other contexts
      pfam02469
      Location:1736 → 1866
      Fasciclin; Fasciclin domain
      pfam12947
      Location:1459 → 1495
      EGF_3; EGF domain
      cl02612
      Location:2208 → 2300
      Link_Domain; The link domain is a hyaluronan (HA)-binding domain. It functions to mediate adhesive interactions during inflammatory leukocyte homing and tumor metastasis. It is found in the CD44 receptor and in human TSG-6. TSG-6 is the protein product of the tumor ...
      cl02663
      Location:393 → 490
      Fasciclin; Fasciclin domain
    3. XM_047447775.1 → XP_047303731.1  stabilin-1 isoform X4

      UniProtKB/TrEMBL
      Q0PNF2
    4. XM_047447776.1 → XP_047303732.1  stabilin-1 isoform X5

      UniProtKB/TrEMBL
      Q0PNF2
    5. XM_047447774.1 → XP_047303730.1  stabilin-1 isoform X3

      UniProtKB/TrEMBL
      Q0PNF2
    6. XM_047447777.1 → XP_047303733.1  stabilin-1 isoform X6

      UniProtKB/TrEMBL
      Q0PNF2
    7. XM_006713065.1 → XP_006713128.1  stabilin-1 isoform X7

      Conserved Domains (4) summary
      pfam02469
      Location:999 → 1120
      Fasciclin; Fasciclin domain
      pfam12947
      Location:1459 → 1495
      EGF_3; EGF domain
      cl02663
      Location:393 → 490
      Fasciclin; Fasciclin domain
      cl21504
      Location:831 → 859
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      52528236..52557403
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345815.1 → XP_054201790.1  stabilin-1 isoform X1

      UniProtKB/TrEMBL
      Q0PNF2
    2. XM_054345816.1 → XP_054201791.1  stabilin-1 isoform X2

      UniProtKB/TrEMBL
      Q0PNF2
    3. XM_054345818.1 → XP_054201793.1  stabilin-1 isoform X4

      UniProtKB/TrEMBL
      Q0PNF2
    4. XM_054345819.1 → XP_054201794.1  stabilin-1 isoform X5

      UniProtKB/TrEMBL
      Q0PNF2
    5. XM_054345817.1 → XP_054201792.1  stabilin-1 isoform X3

      UniProtKB/TrEMBL
      Q0PNF2
    6. XM_054345820.1 → XP_054201795.1  stabilin-1 isoform X6

      UniProtKB/TrEMBL
      Q0PNF2
    7. XM_054345821.1 → XP_054201796.1  stabilin-1 isoform X7