HP haptoglobin [Homo sapiens (human)] - Gene

Summary

Official Symbol: HPprovided by HGNC
Official Full Name: haptoglobinprovided by HGNC
Primary source: HGNC:HGNC:5141
See related: Ensembl:ENSG00000257017 MIM:140100; AllianceGenome:HGNC:5141
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: BP; HPA1S; HP2ALPHA2
Summary: 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]
Expression: Restricted expression toward liver (RPKM 13200.4) See more
Orthologs: mouse all
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Genomic context

Location:: 16q22.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (72054505..72061055)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (77872534..77877369)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (72088404..72094954)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dysregulation of the CD163-Haptoglobin Axis in the Airways of COPD Patients.
Title: Dysregulation of the CD163-Haptoglobin Axis in the Airways of COPD Patients.
Measurement of the serum zonulin levels in patients with acne rosacea.
Title: Measurement of the serum zonulin levels in patients with acne rosacea.
Novel role of zonulin in the pathophysiology of gastro-duodenal transit: a clinical and translational study.
Title: Novel role of zonulin in the pathophysiology of gastro-duodenal transit: a clinical and translational study.
Identification of fucosylated haptoglobin-producing cells in pancreatic cancer tissue and its molecular mechanism.
Title: Identification of fucosylated haptoglobin-producing cells in pancreatic cancer tissue and its molecular mechanism.
How Do Serum Zonulin Levels Change in Gestational Diabetes Mellitus, Pregnancy Cholestasis, and the Coexistence of Both Diseases?
Title: How Do Serum Zonulin Levels Change in Gestational Diabetes Mellitus, Pregnancy Cholestasis, and the Coexistence of Both Diseases?
Haptoglobin Genotype Affects Inflammation after Aneurysmal Subarachnoid Hemorrhage.
Title: Haptoglobin Genotype Affects Inflammation after Aneurysmal Subarachnoid Hemorrhage.
Role of candidate gene variants in modulating the risk and severity of alcoholic hepatitis.
Title: Role of candidate gene variants in modulating the risk and severity of alcoholic hepatitis.
Evaluation of serum zonulin level in prediabetic patients.
Title: Evaluation of serum zonulin level in prediabetic patients.
The Role of Haptoglobin Polymorphism in Cardiovascular Disease in the Setting of Diabetes.
Title: The Role of Haptoglobin Polymorphism in Cardiovascular Disease in the Setting of Diabetes.
Dysregulated circulating SOCS3 and haptoglobin expression associated with stable coronary artery disease and acute coronary syndrome: An integrated study based on bioinformatics analysis and case-control validation.
Title: Dysregulated circulating SOCS3 and haptoglobin expression associated with stable coronary artery disease and acute coronary syndrome: An integrated study based on bioinformatics analysis and case-control validation.

Submit: New GeneRIF Correction See all GeneRIFs (312)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Anhaptoglobinemia MedGen: C3279786 OMIM: 614081 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study identifies rs2000999 as a strong genetic determinant of circulating haptoglobin levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

hshp1g5 (e-PCR)
- UniSTS:90142

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-61149 (e-PCR)
- UniSTS:9031

HP_143 (e-PCR)
- UniSTS:277326

RH70305 (e-PCR)
- UniSTS:52609

GDB:181556 (e-PCR)
- UniSTS:155282

NoName (e-PCR)
- UniSTS:483222

GDB:181606 (e-PCR)
- UniSTS:155313

RH79153 (e-PCR)
- UniSTS:72133

GDB:180916 (e-PCR)
- UniSTS:155121

Homology

Homologs of the HP gene: The HP gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, and rat.
Orthologs from Annotation Pipeline: 51 organisms have orthologs with human gene HP
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables antioxidant activity	IEA Inferred from Electronic Annotation more info
enables hemoglobin binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables serine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Process	Evidence Code	Pubs
involved_in acute inflammatory response	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in acute-phase response	IEA Inferred from Electronic Annotation more info
involved_in cellular oxidant detoxification	IEA Inferred from Electronic Annotation more info
involved_in defense response	TAS Traceable Author Statement more info	PubMed
involved_in defense response to bacterium	IEA Inferred from Electronic Annotation more info
involved_in immune system process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of hydrogen peroxide catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of oxidoreductase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell death	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in positive regulation of cell death	IDA Inferred from Direct Assay more info	PubMed
involved_in response to hydrogen peroxide	IDA Inferred from Direct Assay more info	PubMed
involved_in zymogen activation	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Component	Evidence Code	Pubs
located_in blood microparticle	HDA more info	PubMed
is_active_in blood microparticle	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in endocytic vesicle lumen	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
part_of haptoglobin-hemoglobin complex	IDA Inferred from Direct Assay more info	PubMed
located_in specific granule lumen	TAS Traceable Author Statement more info
located_in tertiary granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: haptoglobin

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

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

NG_012651.1 RefSeqGene

Range

4897..11447

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001126102.3 → NP_001119574.1 haptoglobin isoform 2 preproprotein

See identical proteins and their annotated locations for NP_001119574.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks two alternate in-frame exons in the mid-coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

AC009087, AK314700, BC107587, BJ994335

Consensus CDS

CCDS45525.1

UniProtKB/Swiss-Prot

P00738

UniProtKB/TrEMBL

Q6PEJ8

Related

ENSP00000381199.2, ENST00000398131.6

Conserved Domains (3) summary

cd00033
Location:33 → 87

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

smart00020
Location:102 → 340

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:103 → 343

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
NM_001318138.2 → NP_001305067.1 haptoglobin isoform 3 preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks two alternate in-frame exons in the coding region, compared to variant 1. It encodes isoform 3, which is shorter than isoform 1.

Source sequence(s)

AC009087, BC017862, BC121124, BJ994335

Consensus CDS

CCDS82010.1

UniProtKB/Swiss-Prot

P00738

UniProtKB/TrEMBL

A0A0C4DGL8, Q6PEJ8

Related

ENSP00000454966.1, ENST00000565574.5

Conserved Domains (3) summary

cd00033
Location:33 → 87

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

smart00020
Location:102 → 340

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:103 → 343

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
NM_005143.5 → NP_005134.1 haptoglobin isoform 1 preproprotein

See identical proteins and their annotated locations for NP_005134.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC009087, AK314700, BC017862, BJ994335

Consensus CDS

CCDS45524.1

UniProtKB/Swiss-Prot

P00738

UniProtKB/TrEMBL

Q6PEJ8

Related

ENSP00000348170.5, ENST00000355906.10

Conserved Domains (3) summary

cd00033
Location:33 → 87

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

smart00020
Location:161 → 399

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:162 → 402

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...