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APOH apolipoprotein H [ Homo sapiens (human) ]

Gene ID: 350, updated on 2-Nov-2024

Summary

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Official Symbol
APOHprovided by HGNC
Official Full Name
apolipoprotein Hprovided by HGNC
Primary source
HGNC:HGNC:616
See related
Ensembl:ENSG00000091583 MIM:138700; AllianceGenome:HGNC:616
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
BG; B2G1; B2GP1
Summary
Apolipoprotein H, also known as beta-2-glycoprotein I, is a component of circulating plasma lipoproteins. It has been implicated in a variety of physiologic pathways including lipoprotein metabolism, coagulation, hemostasis, and the production of antiphospholipid autoantibodies. APOH may be a required cofactor for anionic phospholipid binding by the antiphospholipid autoantibodies found in sera of many patients with lupus and primary antiphospholipid syndrome (APS). The anti-beta (2) glycoprotein I antibodies from APS patients, mediate inhibition of activated protein C which has anticoagulant properties. Because beta-2-GPI is the main autoantigen in patients with APS, the disruption of this pathway by autoantibodies may be an important mechanism for thrombosis in patients with APS.[provided by RefSeq, Dec 2019]
Expression
Restricted expression toward liver (RPKM 3533.3) See more
Orthologs
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Genomic context

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See APOH in Genome Data Viewer
Location:
17q24.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (66212033..66229415, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (67082811..67100218, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (64208151..64225533, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene centrosomal protein 112 Neighboring gene nuclear transport factor 2-like Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:63996564-63997763 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:64009651-64010152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:64010153-64010652 Neighboring gene NANOG hESC enhancer GRCh37_chr17:64106810-64107347 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:64205560-64206125 Neighboring gene Sharpr-MPRA regulatory region 2592 Neighboring gene Sharpr-MPRA regulatory region 14325 Neighboring gene proteasome 26S subunit, non-ATPase 7 pseudogene 1 Neighboring gene CRISPRi-validated cis-regulatory element chr17.4440 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:64299525-64300026 Neighboring gene RNA, 5S ribosomal pseudogene 444 Neighboring gene Sharpr-MPRA regulatory region 4334 Neighboring gene Sharpr-MPRA regulatory region 10613 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:64356585-64357085 Neighboring gene RNA, 7SL, cytoplasmic 735, pseudogene Neighboring gene protein kinase C alpha

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. [Val247Leu polymorphism of beta2 glycoprotein 1 gene may justify the genesis of anti beta2GP1 antibodies and antiphospholipid syndrome in multibacillary leprosy]. Brochado MJ, et al. An Bras Dermatol, 2009 Jul-Aug. PMID 19851667
  2. [The relationship of apolipoprotein H gene polymorphism with stroke]. Xia J, et al. Zhonghua Yi Xue Za Zhi, 2003 Apr 10. PMID 12887738
  3. Beta2-GPI: a novel factor in the development of hepatocellular carcinoma. Jing X, et al. J Cancer Res Clin Oncol, 2010 Nov. PMID 20204408
  4. Correlation between beta-2-glycoprotein I gene polymorphism and anti-beta-2 glycoprotein I antibodies in patients with multibacillary leprosy. Brochado MJ, et al. Arch Dermatol Res, 2010 Oct. PMID 20140737
  5. Functional and genetic characterization of the promoter region of apolipoprotein H (beta2-glycoprotein I). Suresh S, et al. FEBS J, 2010 Feb. PMID 20089041, Free PMC Article

See all (257) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Serum apolipoprotein H determines ferroptosis resistance by modulating cellular lipid composition.
    Title: Serum apolipoprotein H determines ferroptosis resistance by modulating cellular lipid composition.
  2. The protective effect of apolipoprotein H in paediatric sepsis.
    Title: The protective effect of apolipoprotein H in paediatric sepsis.
  3. Effects of apolipoprotein H downregulation on lipid metabolism, fatty liver disease, and gut microbiota dysbiosis.
    Title: Effects of apolipoprotein H downregulation on lipid metabolism, fatty liver disease, and gut microbiota dysbiosis.
  4. The association of APOH and NCF1 polymorphisms on susceptibility to recurrent pregnancy loss in women with antiphospholipid syndrome.
    Title: The association of APOH and NCF1 polymorphisms on susceptibility to recurrent pregnancy loss in women with antiphospholipid syndrome.
  5. Clinical relevance of nitrated beta 2-glycoprotein I in antiphospholipid syndrome: Implications for thrombosis risk.
    Title: Clinical relevance of nitrated beta 2-glycoprotein I in antiphospholipid syndrome: Implications for thrombosis risk.
  6. Cardiolipin interacts with beta-2-glycoprotein I and forms an open conformation-Mechanisms analyzed using hydrogen/deuterium exchange.
    Title: Cardiolipin interacts with beta-2-glycoprotein I and forms an open conformation-Mechanisms analyzed using hydrogen/deuterium exchange.
  7. An allosteric redox switch in domain V of beta2-glycoprotein I controls membrane binding and anti-domain I autoantibody recognition.
    Title: An allosteric redox switch in domain V of β(2)-glycoprotein I controls membrane binding and anti-domain I autoantibody recognition.
  8. T Cell Proliferative Responses and IgG Antibodies to beta2GPI in Patients with Diabetes and Atherosclerosis.
    Title: T Cell Proliferative Responses and IgG Antibodies to β2GPI in Patients with Diabetes and Atherosclerosis.
  9. Apolipoprotein H drives hepatitis B surface antigen retention and endoplasmic reticulum stress during hepatitis B virus infection.
    Title: Apolipoprotein H drives hepatitis B surface antigen retention and endoplasmic reticulum stress during hepatitis B virus infection.
  10. Tissue factor and human apolipoprotein H genetic variants and pro-inflammatory cytokines in systemic lupus erythematosus patients.
    Title: Tissue factor and human apolipoprotein H genetic variants and pro-inflammatory cytokines in systemic lupus erythematosus patients.
Submit: New GeneRIF Correction See all GeneRIFs (183)

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

EBI GWAS Catalog

Description
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog
Genetic determinants of plasma β₂-glycoprotein I levels: a genome-wide association study in extended pedigrees from Spain.
EBI GWAS Catalog
Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Pr55(Gag) gag Binding of apolipoprotein H to HIV-1 Gag protein p18 as well as to the Gag p55 polyprotein has been demonstrated in vitro 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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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables heparin binding IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables lipid binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables lipoprotein lipase activator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables phospholipid binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in blood coagulation, intrinsic pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of angiogenesis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of blood coagulation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of endothelial cell migration IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of endothelial cell proliferation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of fibrinolysis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of myeloid cell apoptotic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of smooth muscle cell apoptotic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in plasminogen activation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of blood coagulation TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of lipoprotein lipase activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of fibrinolysis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in triglyceride metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in triglyceride transport ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
Component Evidence Code Pubs
located_in cell surface IDA
Inferred from Direct Assay
more info
 PubMed 
part_of chylomicron IDA
Inferred from Direct Assay
more info
 PubMed 
colocalizes_with collagen-containing extracellular matrix HDA PubMed 
located_in collagen-containing extracellular matrix HDA PubMed 
located_in extracellular exosome HDA PubMed 
located_in extracellular region HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in extracellular space HDA PubMed 
located_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 
part_of high-density lipoprotein particle IDA
Inferred from Direct Assay
more info
 PubMed 
located_in platelet dense granule lumen TAS
Traceable Author Statement
more info
  
part_of very-low-density lipoprotein particle IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
beta-2-glycoprotein 1
Names
APC inhibitor
B2GPI
activated protein C-binding protein
anticardiolipin cofactor
apo-H
apolipoprotein H (beta-2-glycoprotein I)
beta(2)GPI
epididymis secretory sperm binding protein

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.

Genomic

  1. NG_012045.1 RefSeqGene

    Range
    5024..22406
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000042.3 → NP_000033.2  beta-2-glycoprotein 1 precursor

    See identical proteins and their annotated locations for NP_000033.2

    Status: REVIEWED

    Source sequence(s)
    BC026283, BG566874
    Consensus CDS
    CCDS11663.1
    UniProtKB/Swiss-Prot
    B2R9M3, P02749, Q9UCN7
    UniProtKB/TrEMBL
    A0A384NKM6, D9IWP9
    Related
    ENSP00000205948.6, ENST00000205948.11
    Conserved Domains (2) summary
    pfam09014
    Location:261 → 345
    Sushi_2; Beta-2-glycoprotein-1 fifth domain
    cl27761
    Location:41 → 260
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    66212033..66229415 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    67082811..67100218 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P02749.3 GenPept UniProtKB/Swiss-Prot:P02749

Gene LinkOut

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