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APOH apolipoprotein H [ Homo sapiens (human) ]

Gene ID: 350, updated on 12-Oct-2019

Summary

Official Symbol
APOHprovided by HGNC
Official Full Name
apolipoprotein Hprovided by HGNC
Primary source
HGNC:HGNC:616
See related
Ensembl:ENSG00000091583 MIM:138700
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 has been implicated in a variety of physiologic pathways including lipoprotein metabolism, coagulation, 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, but it does not seem to be required for the reactivity of antiphospholipid autoantibodies associated with infections. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward liver (RPKM 3533.3) See more
Orthologs

Genomic context

See APOH in Genome Data Viewer
Location:
17q24.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (66212033..66229415, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (64208147..64225556, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene centrosomal protein 112 Neighboring gene nuclear transport factor 2 pseudogene Neighboring gene proteasome 26S subunit, non-ATPase 7 pseudogene 1 Neighboring gene RNA, 5S ribosomal pseudogene 444 Neighboring gene Sharpr-MPRA regulatory region 10613 Neighboring gene protein kinase C alpha

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

HIV-1 interactions

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

Pathways from BioSystems

  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
    Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
  • Platelet degranulation, organism-specific biosystem (from REACTOME)
    Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
  • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
    Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
heparin binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
lipid binding IDA
Inferred from Direct Assay
more info
PubMed 
lipoprotein lipase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
phospholipid binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 

General protein information

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)

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_000042.3NP_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
    P02749
    Related
    ENSP00000205948.6, ENST00000205948.11
    Conserved Domains (2) summary
    pfam09014
    Location:261345
    Sushi_2; Beta-2-glycoprotein-1 fifth domain
    cl27761
    Location:41260
    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: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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