APOH apolipoprotein H (beta-2-glycoprotein I) [Homo sapiens] - Gene

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Summary

Official Symbol: APOHprovided by HGNC
Official Full Name: apolipoprotein H (beta-2-glycoprotein I)provided by HGNC
Primary source: HGNC:616
See related: Ensembl:ENSG00000091583; HPRD:00728; 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]

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Genomic context

Location :: 17q23-qter

Sequence :: Chromosome: 17; NC_000017.10 (64208147..64225556, complement)

See APOH in Epigenomics, MapViewer

Chromosome 17 - NC_000017.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

A review of the role of oxidative stress in beta2-GPI-mediated immune responses.
Title: Oxidized human beta2-glycoprotein I: its impact on innate immune cells.
[REVIEW] function in innate immunity; function of beta(2) -GPI seems to depend on the structural conformation of the protein
Title: β(2) -Glycoprotein I: evolution, structure and function.
role of beta2-GPI in placentation: Data suggest that in some women with habitual miscarriage, antagonism of beta2-GPI by autoantibodies against beta2-GPI suppresses PlGF production in trophoblasts and causes failure of placenta formation/function.
Title: Effects of anti-β2-glycoprotein I antibody on PlGF, VEGF and sVEGFR1 production from cultured choriocarcinoma cell line.
Mutations of beta(2)-glycoprotein I at D8/D9 and R39 had limited impact on the NMR spectrum of domain I indicating maintenance of the overall fold of the DI domain
Title: Evaluating the conformation of recombinant domain I of β(2)-glycoprotein I and its interaction with human monoclonal antibodies.
posttranslational modification of beta2 GPI via thiol-exchange reactions is a highly specific phenomenon in the setting of antiphospholipid syndrome thrombosis.
Title: Novel assays of thrombogenic pathogenicity in the antiphospholipid syndrome based on the detection of molecular oxidative modification of the major autoantigen β2-glycoprotein I.
In vitro, beta-2-glycoprotein 1 inhibited lipopolysaccharide-induced expression of tissue factor and IL-6 from monocytes and endothelial cells.
Title: β₂-glycoprotein I: a novel component of innate immunity.
lack of significant association between mRNA expression of ABCA1 and circulating levels of oxidized LDL/beta2-glycoprotein I
Title: Lack of association between circulating levels of oxidized LDL/beta2-glycoprotein I complexes and leukocyte ABCA1 gene expression.
Intact beta2GPI in the fetal circulation may be a novel cardioprotective factor in anti-60 kDa ribonucleoprotein (Ro60 antibody)-exposed pregnancies.
Title: β2-glycoprotein I and protection from anti-SSA/Ro60-associated cardiac manifestations of neonatal lupus.
the interactive role of betaGPI, AGEs, and DCs in chronic disorders related to endothelial cell dysfunction.
Title: Advanced glycation end products of human β₂ glycoprotein I modulate the maturation and function of DCs.
Positive result in a beta2GPI-dependent lupus anticoagulant (LAC) assay correlates better with thrombosis than the classic LAC assay.
Title: An international multicentre-laboratory evaluation of a new assay to detect specifically lupus anticoagulants dependent on the presence of anti-beta2-glycoprotein autoantibodies.

Submit: New GeneRIF Correction See all (118)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

HIV-1 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 Protein Interaction Database

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Products	Interactant	Other Gene	Source	Pubs	Description
P02749	P07355	ANXA2	HPRD	PubMed
P02749	P00742	F10	HPRD	PubMed
P02749	P00748	F12	HPRD	PubMed
P02749	P08519	LPA	HPRD	PubMed
P02749	P98164	LRP2	HPRD	PubMed
P02749	Q14114	LRP8	HPRD	PubMed
P02749	P00747	PLG	HPRD	PubMed
BioGRID:106847	BioGRID:106710	AKT1	BioGRID	PubMed	Two-hybrid
BioGRID:106847	BioGRID:106799	ANXA2	BioGRID	PubMed	Reconstituted Complex
BioGRID:106847	BioGRID:107433	CDC42	BioGRID	PubMed	Two-hybrid
BioGRID:106847	BioGRID:130876	CLEC4G	BioGRID	PubMed	Two-hybrid
BioGRID:106847	BioGRID:108937	GEM	BioGRID	PubMed	Two-hybrid
BioGRID:106847	BioGRID:109142	GRB2	BioGRID	PubMed	Two-hybrid
BioGRID:106847	BioGRID:110216	LRP2	BioGRID	PubMed	Reconstituted Complex
BioGRID:106847	BioGRID:113579	LRP8	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106847	BioGRID:111865	RBBP6	BioGRID	PubMed	Two-hybrid
BioGRID:106847	BioGRID:113010	TP53	BioGRID	PubMed	Two-hybrid

Function	Evidence Code	Pubs
eukaryotic cell surface binding	IDA Inferred from Direct Assay more info	PubMed
glycoprotein binding	IPI Inferred from Physical Interaction more info	PubMed
heparin binding	IEA Inferred from Electronic Annotation more info
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

Process	Evidence Code	Pubs
blood coagulation, intrinsic pathway	IDA Inferred from Direct Assay more info	PubMed
negative regulation of angiogenesis	IDA Inferred from Direct Assay more info	PubMed
negative regulation of blood coagulation	IDA Inferred from Direct Assay more info	PubMed
negative regulation of endothelial cell migration	IDA Inferred from Direct Assay more info	PubMed
negative regulation of endothelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
negative regulation of fibrinolysis	IDA Inferred from Direct Assay more info	PubMed
negative regulation of myeloid cell apoptosis	IDA Inferred from Direct Assay more info	PubMed
negative regulation of smooth muscle cell apoptosis	IDA Inferred from Direct Assay more info	PubMed
organ regeneration	IEA Inferred from Electronic Annotation more info
plasminogen activation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of blood coagulation	TAS Traceable Author Statement more info	PubMed
positive regulation of lipoprotein lipase activity	IDA Inferred from Direct Assay more info	PubMed
regulation of fibrinolysis	IDA Inferred from Direct Assay more info	PubMed
triglyceride metabolic process	IDA Inferred from Direct Assay more info	PubMed
triglyceride transport	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Component	Evidence Code	Pubs
cell surface	IDA Inferred from Direct Assay more info	PubMed
chylomicron	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with extracellular matrix	IDA Inferred from Direct Assay more info
extracellular region	IEA Inferred from Electronic Annotation more info
extracellular space	IDA Inferred from Direct Assay more info	PubMed
high-density lipoprotein particle	IDA Inferred from Direct Assay more info	PubMed
very-low-density lipoprotein particle	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: beta-2-glycoprotein 1

Names: beta-2-glycoprotein 1; B2GPI; apo-H; beta(2)GPI; APC inhibitor; anticardiolipin cofactor; activated protein C-binding protein

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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

NG_012045.1 RefSeqGene

Range

5001..22410

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

BC026283, BG566874, BM005736

Consensus CDS

CCDS11663.1

UniProtKB/Swiss-Prot

P02749

Related

ENSP00000205948, ENST00000205948

Conserved Domains (3) summary

pfam09014
Location:261 – 345
Blast Score: 361

Sushi_2; Beta-2-glycoprotein-1 fifth domain

cd00033
Location:84 – 137
Blast Score: 141

CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

cl00043
Location:158 – 200
Blast Score: 93

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: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000017.10 Reference GRCh37.p5 Primary Assembly

Range

64208147..64225556, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000149.1 Alternate HuRef

Range

59599926..59617004, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC006120.1 (46259..63638)	None
genomic	AY322156.1	AAP72014.1
genomic	CH471099.1	EAW89012.1
		EAW89013.1
genomic	Y11493.1	CAA72279.1
genomic	Y17754.1	CAA76845.1
mRNA	AK298416.1	BAG60642.1
mRNA	AK313838.1	BAG36570.1
mRNA	BC020703.1	AAH20703.1
mRNA	BC026283.1	AAH26283.1
mRNA	BG566874.1	None
mRNA	BM005736.1	None
mRNA	HM212425.1	ADJ96598.1
mRNA	M62839.1	AAA51766.1
mRNA	S80305.1	AAB21330.1
mRNA	X53595.1	CAA37664.1
mRNA	X57847.1	CAA40977.1
mRNA	X58100.1	CAA41113.1
other-genetic	DQ891362.2	ABM82288.1
other-genetic	DQ894542.2	ABM85468.1