Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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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 accessionTerm nameEvidence codeGo 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 Mutation Ethnicity 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