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    APOH apolipoprotein H [ Homo sapiens (human) ]

    Gene ID: 350, updated on 27-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
    mouse all
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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
    • 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)

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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