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HP haptoglobin [ Homo sapiens (human) ]

Gene ID: 3240, updated on 19-Jul-2014
Official Symbol
HPprovided by HGNC
Official Full Name
haptoglobinprovided by HGNC
Primary source
HGNC:5141
See related
Ensembl:ENSG00000257017; HPRD:00772; MIM:140100; Vega:OTTHUMG00000173009
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. 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, Jul 2008]
Location:
16q22.2
Exon count:
7
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 16 NC_000016.10 (72054566..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, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 3 Neighboring gene dihydroorotate dehydrogenase (quinone) Neighboring gene thioredoxin-like 4B Neighboring gene haptoglobin-related protein Neighboring gene DEAH (Asp-Glu-Ala-His) box polypeptide 38

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC111141

Gene Ontology Provided by GOA

Function Evidence Code Pubs
antioxidant activity IEA
Inferred from Electronic Annotation
more info
 
catalytic 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 
Process Evidence Code Pubs
acute-phase response 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
 
immune system process IEA
Inferred from Electronic Annotation
more info
 
metabolic process 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 
positive regulation of cell death IDA
Inferred from Direct Assay
more info
PubMed 
response to hydrogen peroxide IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
blood microparticle IDA
Inferred from Direct Assay
more info
 
endocytic vesicle lumen TAS
Traceable Author Statement
more info
 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
haptoglobin-hemoglobin complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
haptoglobin
Names
haptoglobin
zonulin
binding peptide
haptoglobin alpha(1S)-beta
haptoglobin alpha(2FS)-beta
haptoglobin, beta polypeptide
haptoglobin, alpha polypeptide

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 

    Range
    5001..11448
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001126102.1NP_001119574.1  haptoglobin isoform 2 preproprotein

    See proteins identical to 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, CB117006
    Consensus CDS
    CCDS45525.1
    UniProtKB/Swiss-Prot
    P00738
    UniProtKB/TrEMBL
    Q6PEJ8
    Related
    ENSP00000381199, ENST00000398131
    Conserved Domains (3) summary
    cd00033
    Location:3387
    Blast Score: 83
    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
    Blast Score: 481
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:103343
    Blast Score: 511
    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_005143.3NP_005134.1  haptoglobin isoform 1 preproprotein

    See proteins identical to NP_005134.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK314700, BC017862, CB117006
    Consensus CDS
    CCDS45524.1
    UniProtKB/Swiss-Prot
    P00738
    UniProtKB/TrEMBL
    Q6PEJ8
    Related
    ENSP00000348170, OTTHUMP00000249890, ENST00000355906, OTTHUMT00000421680
    Conserved Domains (3) summary
    cd00033
    Location:3387
    Blast Score: 83
    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
    Blast Score: 480
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:162402
    Blast Score: 511
    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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000016.10 

    Range
    72054566..72061056
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005255922.2XP_005255979.1  

    Related
    ENSP00000454966, OTTHUMP00000249895
    Conserved Domains (3) summary
    cd00033
    Location:47101
    Blast Score: 85
    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:116354
    Blast Score: 483
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:117357
    Blast Score: 515
    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 ...

Alternate HuRef

Genomic

  1. AC_000148.1 

    Range
    57855340..57861787
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 

    Range
    73501856..73508303
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)