• Gene id: 3240

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 (72054504: 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 acce
• OMIM: 612779

Protein Summary

• Protein general information: P00738  
  • Name: Haptoglobin (Zonulin) [Cleaved into: Haptoglobin alpha chain; Haptoglobin beta chain]
  • Length: 406  
  • Mass: 45205
  • Tissue specificity: Expressed by the liver and secreted in plasma.
• Sequence:

  MSALGAVIALLLWGQLFAVDSGNDVTDIADDGCPKPPEIAHGYVEHSVRYQCKNYYKLRTEGDGVYTLNDKKQWI
  NKAVGDKLPECEADDGCPKPPEIAHGYVEHSVRYQCKNYYKLRTEGDGVYTLNNEKQWINKAVGDKLPECEAVCG
  KPKNPANPVQRILGGHLDAKGSFPWQAKMVSHHNLTTGATLINEQWLLTTAKNLFLNHSENATAKDIAPTLTLYV
  GKKQLVEIEKVVLHPNYSQVDIGLIKLKQKVSVNERVMPICLPSKDYAEVGRVGYVSGWGRNANFKFTDHLKYVM
  LPVADQDQCIRHYEGSTVPEKKTPKSPVGVQPILNEHTFCAGMSKYQEDTCYGDAGSAFAVHDLEEDTWYATGIL
  SFDKSCAVAEYGVYVKVTSIQDWVQKTIAEN

• Structural information:
  • Protein Domains: (31..8-)
    (/note="Sushi-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00302-)
    (90..14-)
    (/note="Sushi-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00302-)
    (162..40-)
    (/note="Peptidase-S1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU002-)
  • Interpro: IPR009003  IPR001314  IPR035976  IPR000436  IPR001254  
  • Prosite: PS50923 PS50240
  • CDD: cd00033 cd00190
  • PDB: 4WJG 4X0L 5HU6 6TB2
  • PDBsum: 4WJG 4X0L 5HU6 6TB2
  • STRING: ENSP00000348170
• Other Databases: GeneCards:  HP  Malacards:  HP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005615	extracellular space	IBA	cellular component
GO:0004252	serine-type endopeptidase activity	IBA	molecular function
GO:0010942	positive regulation of cell death	IBA	biological process
GO:0002526	acute inflammatory response	IBA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0030492	hemoglobin binding	IEA	molecular function
GO:0042742	defense response to bacterium	IEA	biological process
GO:0016209	antioxidant activity	IEA	molecular function
GO:0006953	acute-phase response	IEA	biological process
GO:0006952	defense response	TAS	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0071682	endocytic vesicle lumen	TAS	cellular component
GO:1904724	tertiary granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0035580	specific granule lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030492	hemoglobin binding	IDA	molecular function
GO:0051354	negative regulation of oxidoreductase activity	IDA	biological process
GO:2000296	negative regulation of hydrogen peroxide catabolic process	IDA	biological process
GO:0010942	positive regulation of cell death	IDA	biological process
GO:0031838	haptoglobin-hemoglobin complex	IDA	cellular component
GO:0042542	response to hydrogen peroxide	IDA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0098869	cellular oxidant detoxification	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0005576	extracellular region	NAS	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0072562	blood microparticle	HDA	cellular component

Diseases

Associated diseases	References
Sleep apnea	PMID:19566894
Non-alcoholic fatty liver disease	PMID:21806828
Pre-eclampsia	PMID:17220952
Pre-eclampsia	PMID:16879055
Hypertension	PMID:8228210
Alpha thalassemia	PMID:16760505
Sarcoidosis	PMID:17446058
iron deficiency anemia	PMID:647925
Beta thalassemia	PMID:22885163
Hemolytic-uremic syndrome	PMID:6218601
cardiovascular system disease	PMID:10606363
Cardiomyopathy	PMID:16360363
Gout	PMID:7281841
Kawasaki disease	PMID:20957478
Hyperinsulinism	PMID:17598972
Arteriosclerosis	PMID:8228210
Asthma	PMID:21169467
Chronic obstructive pulmonary disease	PMID:21471098
Coronary artery disease	PMID:884791
Hyperglycemia	PMID:3690840
Hemolytic anemia	PMID:16637741
Myocardial infarction	PMID:2613263
Pulmonary hypertension	PMID:2043024
Pulmonary hypertension	PMID:25656991
diabetes mellitus	PMID:12540619
Pulmonary embolism	PMID:19566548
obesity	PMID:15181041
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male factor infertility	MIK: 29961538

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq