Endometriosis Knowledgebase

Search Result

Gene id

3240

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

HP Gene UCSC Ensembl

Aliases

BP, HP2ALPHA2, HPA1S

Gene name

haptoglobin

Alternate names

haptoglobin, binding peptide, haptoglobin alpha(1S)-beta, haptoglobin alpha(2FS)-beta, haptoglobin, alpha polypeptide, haptoglobin, beta polypeptide, zonulin,

Gene location

16q22.2 (72054591: 72061055) Exons: 7 NC_000016.10

Gene summary(Entrez)

This gene encodes a preproprotein, which is processed to yield both alpha and beta chains, which subsequently combine as a tetramer to produce haptoglobin. Haptoglobin functions to bind free plasma hemoglobin, which allows degradative enzymes to gain access to the hemoglobin, while at the same time preventing loss of iron through the kidneys and protecting the kidneys from damage by hemoglobin. Mutations in this gene and/or its regulatory regions cause ahaptoglobinemia or hypohaptoglobinemia. This gene has also been linked to diabetic nephropathy, the incidence of coronary artery disease in type 1 diabetes, Crohn's disease, inflammatory disease behavior, primary sclerosing cholangitis, susceptibility to idiopathic Parkinson's disease, and a reduced incidence of Plasmodium falciparum malaria. The protein encoded also exhibits antimicrobial activity against bacteria. A similar duplicated gene is located next to this gene on chromosome 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]

OMIM

140100

Protein Summary

Protein general information

P00738

Name: Haptoglobin (Zonulin) [Cleaved into: Haptoglobin alpha chain; Haptoglobin beta chain]

Length: 406 Mass: 45,205

Tissue specificity: Expressed by the liver and secreted in plasma.

Sequence

MSALGAVIALLLWGQLFAVDSGNDVTDIADDGCPKPPEIAHGYVEHSVRYQCKNYYKLRTEGDGVYTLNDKKQWI
NKAVGDKLPECEADDGCPKPPEIAHGYVEHSVRYQCKNYYKLRTEGDGVYTLNNEKQWINKAVGDKLPECEAVCG
KPKNPANPVQRILGGHLDAKGSFPWQAKMVSHHNLTTGATLINEQWLLTTAKNLFLNHSENATAKDIAPTLTLYV
GKKQLVEIEKVVLHPNYSQVDIGLIKLKQKVSVNERVMPICLPSKDYAEVGRVGYVSGWGRNANFKFTDHLKYVM
LPVADQDQCIRHYEGSTVPEKKTPKSPVGVQPILNEHTFCAGMSKYQEDTCYGDAGSAFAVHDLEEDTWYATGIL
SFDKSCAVAEYGVYVKVTSIQDWVQKTIAEN

Structural information

Protein Domains	Sushi (31-88) Sushi (90-147) Peptidase (162-404)
Interpro:	IPR008292 IPR009003 IPR001314 IPR000436 IPR001254
Prosite:	PS50923 PS50240
Pfam:	PF00089
CDD:	cd00033 cd00190
PDB:	4WJG 4X0L 5HU6
PDBsum:	4WJG 4X0L 5HU6
STRING:	ENSP00000348170;

Other Databases

GeneCards: HP; Malacards: HP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002376	immune system process	IEA	biological_process
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	NAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0006898	receptor-mediated endocyt osis	TAS	biological_process
GO:0006952	defense response	TAS	biological_process
GO:0006953	acute-phase response	IEA	biological_process
GO:0010942	positive regulation of ce ll death	IDA	biological_process
GO:0016209	antioxidant activity	IEA	molecular_function
GO:0030492	hemoglobin binding	IDA	molecular_function
GO:0031838	haptoglobin-hemoglobin co mplex	IDA	cellular_component
GO:0042542	response to hydrogen pero xide	IDA	biological_process
GO:0042742	defense response to bacte rium	IEA	biological_process
GO:0051354	negative regulation of ox idoreductase activity	IDA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071682	endocytic vesicle lumen	TAS	cellular_component
GO:0072562	blood microparticle	IDA	cellular_component
GO:0098869	cellular oxidant detoxifi cation	IEA	biological_process
GO:2000296	negative regulation of hy drogen peroxide catabolic process	IDA	biological_process
GO:0002376	immune system process	IEA	biological_process
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	NAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0006898	receptor-mediated endocyt osis	TAS	biological_process
GO:0006952	defense response	TAS	biological_process
GO:0006953	acute-phase response	IEA	biological_process
GO:0010942	positive regulation of ce ll death	IDA	biological_process
GO:0016209	antioxidant activity	IEA	molecular_function
GO:0030492	hemoglobin binding	IEA	molecular_function
GO:0030492	hemoglobin binding	IDA	molecular_function
GO:0031838	haptoglobin-hemoglobin co mplex	IDA	cellular_component
GO:0042542	response to hydrogen pero xide	IDA	biological_process
GO:0042742	defense response to bacte rium	IEA	biological_process
GO:0051354	negative regulation of ox idoreductase activity	IDA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071682	endocytic vesicle lumen	TAS	cellular_component
GO:0072562	blood microparticle	IDA	cellular_component
GO:0098869	cellular oxidant detoxifi cation	IEA	biological_process
GO:2000296	negative regulation of hy drogen peroxide catabolic process	IDA	biological_process
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	NAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0006898	receptor-mediated endocyt osis	TAS	biological_process
GO:0006952	defense response	TAS	biological_process
GO:0010942	positive regulation of ce ll death	IDA	biological_process
GO:0030492	hemoglobin binding	IDA	molecular_function
GO:0031838	haptoglobin-hemoglobin co mplex	IDA	cellular_component
GO:0042542	response to hydrogen pero xide	IDA	biological_process
GO:0051354	negative regulation of ox idoreductase activity	IDA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071682	endocytic vesicle lumen	TAS	cellular_component
GO:0072562	blood microparticle	IDA	cellular_component
GO:2000296	negative regulation of hy drogen peroxide catabolic process	IDA	biological_process

Diseases

Associated diseases	References
Alzheimer's disease	PMID: 19141999
Anemia	PMID: 16637741
Asthma	PMID: 16224193
Cancer	PMID: 19743954
Cholangitis	PMID: 17357835
Diabetes	PMID: 19720796
Diabetic retinopathy	PMID: 12187922
Endometriosis	PMID: 15866595
Epilepsy	PMID: 15490286
Follicular development	PMID: 25595538
Myocardial infarction	PMID: 12941730
Nephropathy	PMID: 11380078
Obesity	PMID: 19440331
Polycystic ovary syndrome (PCOS)	PMID: 25336505
Preeclampsia	PMID: 16879055
Endometriosis	INFBASE12652078
Schizophrenia	PMID: 18583979

PubMed references

PMID	Condition	Population details	Infertility_type	Associated_genes	Abstract
15866595	Endometrio sis	107 (72 patient s with endometr iosis, 35 contr ols)			Show abstract
26255447	Endometrio sis	229 (119 women (study groups), 110 patients s uffered from si mple serous or dermoid ovarian cysts (referen ce groups))			Show abstract
24889313	Endometrio sis	30 (15 patients with endometri osis, 15 patien ts without endo metriosis)	Female infertility		Show abstract
12652078	Endometrio sis			haptoglobin (pHp)	Show abstract
25449831	Endometrio sis	547 (52 with St age I endometri osis, 83 wth st age 2 endometri osis, 223 with stage 3 endomet riosis, 189 wit h stage IV endo metriosis), 79 healthy control s)	Female infertility	HP IGKC A1BG	Show abstract