STAB1 stabilin 1 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Highly oxidized albumin is cleared by liver sinusoidal endothelial cells via the receptors stabilin-1 and -2.
Title: Highly oxidized albumin is cleared by liver sinusoidal endothelial cells via the receptors stabilin-1 and -2.
A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB1.
Title: A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB1.
Stabilin-1 mediates beneficial monocyte recruitment and tolerogenic macrophage programming during CVB3-induced viral myocarditis.
Title: Stabilin-1 mediates beneficial monocyte recruitment and tolerogenic macrophage programming during CVB3-induced viral myocarditis.
Stabilin-1 plays a protective role against Listeria monocytogenes infection through the regulation of cytokine and chemokine production and immune cell recruitment.
Title: Stabilin-1 plays a protective role against Listeria monocytogenes infection through the regulation of cytokine and chemokine production and immune cell recruitment.
New tools to prevent cancer growth and spread: a 'Clever' approach.
Title: New tools to prevent cancer growth and spread: a 'Clever' approach.
Not CD68 but stabilin-1 expression is associated with the risk of recurrence in patients with oral cavity squamous cell carcinoma.
Title: Not CD68 but stabilin-1 expression is associated with the risk of recurrence in patients with oral cavity squamous cell carcinoma.
This study identifies Clever-1 as an important molecule controlling lymphocyte entry into the spleen, along with a critical role for the splenic red pulp in this regulated trafficking.
Title: Clever-1 contributes to lymphocyte entry into the spleen via the red pulp.
Systemic rAAV-DCN in neuroblastoma-grafted nude mice inhibited stabilin-1.
Title: Decorin gene upregulation mediated by an adeno-associated virus vector increases intratumoral uptake of nab-paclitaxel in neuroblastoma via inhibition of stabilin-1.
Results suggest stabilin-1 mediated silent clearance of extracellular tumor growth-inhibiting factors as a mechanism of stabilin-1 induced tumor growth.
Title: Stabilin-1 is expressed in human breast cancer and supports tumor growth in mammary adenocarcinoma mouse model.
These data define stabilin-1 as a new immunosuppressive molecule and suggest that stabilin-1(high) monocytes may dampen proinflammatory reactions in vivo.
Title: Monocyte Stabilin-1 Suppresses the Activation of Th1 Lymphocytes.

Submit: New GeneRIF Correction See all GeneRIFs (32)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Isolated hyperferritinemia MedGen: CN376904 OMIM: 620729 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. EBI GWAS Catalog EBI GWAS CatalogPubMed
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

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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)

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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)

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

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

52495338..52524495

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
XM_047447775.1 → XP_047303731.1 stabilin-1 isoform X4
XM_047447776.1 → XP_047303732.1 stabilin-1 isoform X5
XM_047447774.1 → XP_047303730.1 stabilin-1 isoform X3
XM_047447777.1 → XP_047303733.1 stabilin-1 isoform X6
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 ...