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HP haptoglobin [ Homo sapiens (human) ]

Gene ID: 3240, updated on 14-Oct-2019

Summary

Official Symbol
HPprovided by HGNC
Official Full Name
haptoglobinprovided by HGNC
Primary source
HGNC:HGNC:5141
See related
Ensembl:ENSG00000257017 MIM:140100
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

Genomic context

Location:
16q22.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (72054505..72061056)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (72088470..72094955)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATP synthase F1 subunit alpha pseudogene 3 Neighboring gene dihydroorotate dehydrogenase (quinone) Neighboring gene thioredoxin like 4B Neighboring gene haptoglobin-related protein Neighboring gene DEAH-box helicase 38

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Binding and Uptake of Ligands by Scavenger Receptors, organism-specific biosystem (from REACTOME)
    Binding and Uptake of Ligands by Scavenger Receptors, organism-specific biosystemScavenger receptors bind free extracellular ligands as the initial step in clearance of the ligands from the body (reviewed in Ascenzi et al. 2005, Areschoug and Gordon 2009, Nielsen et al. 2010). So...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
  • Scavenging of heme from plasma, organism-specific biosystem (from REACTOME)
    Scavenging of heme from plasma, organism-specific biosystemFree heme is damaging to tissues as it intercalates into biologic membranes, perturbing lipid bilayers and promoting the conversion of low-density lipoprotein to cytotoxic oxidized products. Moreover...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
  • amb2 Integrin signaling, organism-specific biosystem (from Pathway Interaction Database)
    amb2 Integrin signaling, organism-specific biosystem
    amb2 Integrin signaling

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC111141

Gene Ontology Provided by GOA

Function Evidence Code Pubs
antioxidant activity IEA
Inferred from Electronic Annotation
more info
 
hemoglobin binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
acute inflammatory response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acute-phase response IEA
Inferred from Electronic Annotation
more info
 
cellular oxidant detoxification IEA
Inferred from Electronic Annotation
more info
 
defense response TAS
Traceable Author Statement
more info
PubMed 
defense response to bacterium IEA
Inferred from Electronic Annotation
more info
 
negative regulation of hydrogen peroxide catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of oxidoreductase activity IDA
Inferred from Direct Assay
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
positive regulation of cell death IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of cell death IDA
Inferred from Direct Assay
more info
PubMed 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
receptor-mediated endocytosis TAS
Traceable Author Statement
more info
 
response to hydrogen peroxide IDA
Inferred from Direct Assay
more info
PubMed 
response to organic substance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
blood microparticle HDA PubMed 
endocytic vesicle lumen TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space HDA PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
haptoglobin-hemoglobin complex IDA
Inferred from Direct Assay
more info
PubMed 
specific granule lumen TAS
Traceable Author Statement
more info
 
tertiary granule lumen TAS
Traceable Author Statement
more info
 

General protein information

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)

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

  1. NG_012651.1 RefSeqGene

    Range
    4897..11447
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001126102.2NP_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)
    AK314700, BC017862, BC107587, BJ994335
    Consensus CDS
    CCDS45525.1
    UniProtKB/Swiss-Prot
    P00738
    UniProtKB/TrEMBL
    Q6PEJ8
    Related
    ENSP00000381199.2, ENST00000398131.6
    Conserved Domains (3) summary
    cd00033
    Location:3387
    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:102340
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:103343
    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 ...
  2. NM_001318138.2NP_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:3387
    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:102340
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:103343
    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 ...
  3. NM_005143.5NP_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:3387
    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:161399
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:162402
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    72054505..72061056
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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