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APOH apolipoprotein H [ Homo sapiens (human) ]

Gene ID: 350, updated on 2-Mar-2021

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, 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

See APOH in Genome Data Viewer
Location:
17q24.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (66212033..66229415, complement)
105.20201022 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 pseudogene Neighboring gene proteasome 26S subunit, non-ATPase 7 pseudogene 1 Neighboring gene CRISPRi-validated cis-regulatory element chr17.4440 Neighboring gene RNA, 5S ribosomal pseudogene 444

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

Associated conditions

Description Tests
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Genetic determinants of plasma β₂-glycoprotein I levels: a genome-wide association study in extended pedigrees from Spain.
GeneReviews: Not available
Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.
GeneReviews: Not available

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

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)

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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_000042.3NP_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 Updated Annotation Release 109.20210226

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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