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STAB1 stabilin 1 [ Homo sapiens (human) ]

Gene ID: 23166, updated on 17-Apr-2020

Summary

Official Symbol
STAB1provided by HGNC
Official Full Name
stabilin 1provided by HGNC
Primary source
HGNC:HGNC:18628
See related
Ensembl:ENSG00000010327 MIM:608560
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; 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

Genomic context

See STAB1 in Genome Data Viewer
Location:
3p21.1
Exon count:
69
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (52495338..52524496)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52529354..52558512)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene troponin C1, slow skeletal and cardiac type Neighboring gene nischarin Neighboring gene 5'-nucleotidase domain containing 2 Neighboring gene small integral membrane protein 4 Neighboring gene RNA, U6 small nuclear 856, pseudogene Neighboring gene polybromo 1

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Homology

Clone Names

  • KIAA0246

Gene Ontology Provided by GOA

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

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_015136.3NP_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
    Q9NY15
    Related
    ENSP00000312946.6, ENST00000321725.10
    Conserved Domains (6) summary
    smart00180
    Location:19922021
    EGF_Lam; Laminin-type epidermal growth factor-like domai
    smart00554
    Location:23672462
    FAS1; Four repeated domains in the Fasciclin I family of proteins, present in many other contexts
    pfam02469
    Location:17361866
    Fasciclin; Fasciclin domain
    pfam12947
    Location:14591495
    EGF_3; EGF domain
    cl02612
    Location:22082300
    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:393490
    Fasciclin; Fasciclin domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    52495338..52524496
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017005998.1XP_016861487.1  stabilin-1 isoform X1

  2. XM_017005999.1XP_016861488.1  stabilin-1 isoform X3

  3. XM_017006003.1XP_016861492.1  stabilin-1 isoform X8

  4. XM_017006002.1XP_016861491.1  stabilin-1 isoform X7

  5. XM_005264973.3XP_005265030.1  stabilin-1 isoform X2

    Conserved Domains (5) summary
    smart00180
    Location:19922021
    EGF_Lam; Laminin-type epidermal growth factor-like domai
    pfam02469
    Location:17361866
    Fasciclin; Fasciclin domain
    pfam12947
    Location:14591495
    EGF_3; EGF domain
    cl02612
    Location:22082300
    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:393490
    Fasciclin; Fasciclin domain
  6. XM_017006001.1XP_016861490.1  stabilin-1 isoform X5

  7. XM_017006000.1XP_016861489.1  stabilin-1 isoform X4

  8. XM_005264974.2XP_005265031.1  stabilin-1 isoform X6

    Conserved Domains (6) summary
    smart00180
    Location:19922021
    EGF_Lam; Laminin-type epidermal growth factor-like domai
    smart00554
    Location:23672462
    FAS1; Four repeated domains in the Fasciclin I family of proteins, present in many other contexts
    pfam02469
    Location:17361866
    Fasciclin; Fasciclin domain
    pfam12947
    Location:14591495
    EGF_3; EGF domain
    cl02612
    Location:22082300
    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:393490
    Fasciclin; Fasciclin domain
  9. XM_017006004.2XP_016861493.1  stabilin-1 isoform X9

  10. XM_006713065.1XP_006713128.1  stabilin-1 isoform X10

    Conserved Domains (4) summary
    pfam02469
    Location:9991120
    Fasciclin; Fasciclin domain
    pfam12947
    Location:14591495
    EGF_3; EGF domain
    cl02663
    Location:393490
    Fasciclin; Fasciclin domain
    cl21504
    Location:831859
    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 ...

RNA

  1. XR_001740064.1 RNA Sequence

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